Compendium of Common Adult and Pediatric Neuromuscular Diagnoses Contributing Editors

Adult Diagnoses

Dennis Fell

  Vice-President, APTA Academy of Neurologic Physical Therapy

  Professor and Chair

  Department of Physical Therapy

  Pat Capps Covey College of Allied Health Professions

  University of South Alabama

  Mobile, Alabama

Diane H Pitts, PT, DPT, RN BSN

  Senior Therapist, Vestibular and Physical Therapy

  Beth M Rouse Rehabilitation and Wellness Center, Providence Hospital,

  Mobile, Alabama

Blair P. Saale, PT, DPT, NCS

  Assistant Professor

  University of South Alabama

  Department of Physical Therapy

  Mobile, Alabama

Pediatric Diagnoses

Janet Tankersley, PT, DPT, PCS

  Assistant Professor

  Augusta University

  Department of Physical Therapy

  Augusta, Georgia

Karen Y. Lunnen, PT, EdD

  Associate Professor and Head (Retired)

  Department of Physical Therapy

  College of Health and Human Sciences

  Western Carolina University

  Cullowhee, North Carolina

Dennis Fell, PT, MD; Diane Pitts, PT, DPT; Blair Saale, PT, DPT, NCS; Janet Tankersley PT, DPT PCS, Karen Lunnen PT, EdD

^*with acknowledgement to the students who assisted with literature searches, summary, and updates of information (listed at the end of this document).

Table of Contents (Alphabetical Listing of Common Neuromuscular Diagnoses – the order in which they are found in this compendium)

• Acquired Immune Deficiency Syndrome (AIDS) ^{(A) (P)}

• Amyotrophic Lateral Sclerosis ^(A)

• Angelman Syndrome ^(P)

• Arthrogryposis Multiplex Congenita ^(P)

• Autism Spectrum (Pervasive Developmental Disorder) ^(P)

• Bell's Palsy ^(A)

• Benign Paroxysmal Positional Vertigo (BPPV) ^(A)

• Brachial Plexus Injury (Neonatal Brachial Plexus Palsy) ^(P)

• Cerebellar Disease and Tumor ^{(A) (P)}

• Cerebral Palsy ^(P)

• Cerebral Tumor ^{(A) (P)}

• Cerebrovascular Accident (ischemic/hemorrhagic) / Stroke ^{(A) (P)}

• Cerebrovascular Accident –Arteriovenous Malformation ^{(A) (P)}

• Charcot-Marie-Tooth ^(A)

• Complex Regional Pain Syndrome (Reflex Sympathetic Dystrophy) ^(A)

• Congenital Limb Deficiency ^(P)

• Conversion Disorder ^{(A) (P)}

• Delirium ^{(A) (P)}

• Dementia / Alzheimer's disease ^(A)

• Developmental Coordination Disorder ^(P)

• Down's Syndrome ^(P)

• Dystonia ^(A)

• Encephalitis ^{(A) (P)}

• Fetal Alcohol Syndrome ^(P)

• Fibromyalgia ^(A)

• Friedreich's Ataxia ^(A)

• Guillain-Barré Syndrome ^(A)

• High Risk Infant / Prematurity (Intraventricular Hemorrhage) ^(P)

• Huntington's Disease ^(A)

• Ischemic Encephalopathy (Near Drowning) ^{(A) (P)}

• Lyme Disease ^{(A) (P)}

• Méniere's Disease ^(A)

• Multiple Sclerosis ^(A)

• Muscular Dystrophy ^(P)

• Myasthenia Gravis ^(A)

• Myelominingocele / Spina Bifida ^(P)

• Myotonia ^(A)

• Neurofibromatosis ^{(A) (P)}

• Normal Pressure Hydrocephalus ^(A)

• Osteogenesis Imperfecta ^(P)

• Parkinson's Disease ^(A)

• Pediatric Infectious Diseases ^(P)

• Peripheral Neuropathy ^(A)

• Poliomyelitis / Post-polio Syndrome ^{(A) (P)}

• Prader Willi Syndrome ^(P)

• Progressive Bulbar Palsy ^(A)

• Rett's Syndrome ^(P)

• Reyes Syndrome ^(P)

• Seizure Disorder (Epilepsy) ^{(A) (P)}

• Spinal Cord Tumors ^{(A) (P)}

• Spinal Muscular Atrophy ^(P)

• Syringomyelia ^(A)

• Transverse Myelitis ^{(A) (P)}

• Traumatic Brain Injury / Diffuse Axonal Injury ^{(A) (P)}

• Traumatic Spinal Cord Injury ^{(A) (P)}

• Trigeminal Neuralgia ^(A)

• Vestibular Hypofunction (Unilateral or Bilateral) ^(A)

^(P) denotes primarily Disorder in Pediatrics

^(A) denotes primarily Adult-onset Disorder

Table of Contents (Listing of Common Neuromuscular Diagnoses Grouped by Categories)

Impaired Oxygen Supply

• Cerebral Palsy ^(P)

• Cerebrovascular Accident (ischemic/hemorrhagic) / Stroke ^{(A) (P)}

• Cerebrovascular Accident –Arteriovenous Malformation ^{(A) (P)}

• Ischemic Encephalopathy (Near Drowning) ^{(A) (P)}

Brain Injury

• Traumatic Brain Injury / Diffuse Axonal Injury ^{(A) (P)}

Spinal Cord Disorders

• Syringomyelia ^(A)

• Transverse Myelitis ^{(A) (P)}

• Traumatic Spinal Cord Injury ^{(A) (P)}

Central Nervous System Neoplasia

• Cerebral Tumor ^{(A) (P)}

• Spinal Cord Tumors ^{(A) (P)}

Degenerative Disorders

• Amyotrophic Lateral Sclerosis ^(A)

• Dementia / Alzheimer's disease ^(A)

• Friedreich's Ataxia ^(A)

• Huntington's Disease ^(A)

• Multiple Sclerosis ^(A)

• Parkinson's Disease ^(A)

• Progressive Bulbar Palsy ^(A)

Vestibular Disorders

• Benign Paroxysmal Positional Vertigo (BPPV) ^(A)

• Méniere's Disease ^(A)

• Vestibular Hypofunction (Unilateral or Bilateral) ^(A)

Peripheral Nerve Disorders

• Bell's Palsy ^(A)

• Charcot-Marie-Tooth ^(A)

• Peripheral Neuropathy ^(A)

• Trigeminal Neuralgia ^(A)

Neuromotor System Disorders

• Myasthenia Gravis ^(A)

• Myotonia ^(A)

Infectious/Inflammatory Disorders

• Acquired Immune Deficiency Syndrome (AIDS) ^{(A) (P)}

• Encephalitis ^{(A) (P)}

• Guillain-Barré Syndrome ^(A)

• Lyme Disease ^{(A) (P)}

• Pediatric Infectious Diseases ^(P)

• Poliomyelitis / Post-polio Syndrome ^{(A) (P)}

• Reyes Syndrome ^(P)

Pediatric Genetic Disorders

• Angelman Syndrome ^(P)

• Down's Syndrome ^(P)

• Muscular Dystrophy ^(P)

• Neurofibromatosis ^{(A) (P)}

• Osteogenesis Imperfecta ^(P)

• Prader Willi Syndrome ^(P)

• Spinal Muscular Atrophy ^(P)

Pediatric Developmental Disorders

• Arthrogryposis Multiplex Congenita ^(P)

• Autism Spectrum (Pervasive Developmental Disorder) ^(P)

• Brachial Plexus Injury (Obstetrical Birth Palsy) ^(P)

• Congenital Limb Deficiency ^(P)

• Developmental Coordination Disorder ^(P)

• Fetal Alcohol Syndrome ^(P)

• High Risk Infant / Prematurity (Intraventricular Hemorrhage) ^(P)

• Myelominingocele / Spina Bifida ^(P)

Miscellaneous

• Cerebellar Disease and Tumor ^{(A) (P)}

• Complex Regional Pain Syndrome (Reflex Sympathetic Dystrophy) ^(A)

• Conversion Disorder ^{(A) (P)}

• Delirium ^{(A) (P)}

• Dystonia ^(A)

• Fibromyalgia ^(A)

• Normal Pressure Hydrocephalus ^(A)

• Rett's Syndrome ^(P)

• Seizure Disorder (Epilepsy) ^{(A) (P)}

^(P) denotes primarily Disorder in Pediatrics

^(A) denotes primarily Adult-onset Disorder

Organization and Use of this Compendium

The full Compendium of Adult and Pediatric Neuromuscular Diagnoses, available in the online resources associated with the book, contains an outline, with reference list, for the common neuromuscular diagnoses – pediatric and adult – that a neurologic therapist will encounter. Each outline summarizes key information for a particular neuromuscular diagnosis, which you likely learned in a previous pathophysiology course. These outlines have a particular emphasis on implications for the patient management process (APTA, 2015), from examination to plan of care / interventions and outcomes.

Each outline follows a consistent organization to serve as a resource to help you in making decisions about the examination methods you will chose, the expected degree of recovery, and the patient-centered interventions. For each diagnosis outline, Section I, "Etiology" will summarize known etiologic factors, risk factors, and pathogenesis of the disorder to understand the basis of each disorder. Section II, "Diagnostics" will include a summary of symptoms the patient may report, signs that can be observed or measured during the neurologic examination, and diagnostic tests that may be used to confirm the medical diagnosis. This section will assist in anticipating possible underlying impairments and functional activity limitations that are expected with the diagnosis, therefore focusing the examination and providing guidance for the evaluation. This section will also delineate any diagnosis-specific outcome measures that have been described. Section III, "Prognosis" will specify if the diagnosis is considered progressive or not, describe trends of progression, which should become second nature to the therapist in helping to determine appropriate short-term and long-term goals. This section will also present known prognostic factors, and help to anticipate expected sequelae including secondary body structure impairments and functional limitations. Section IV, "Medical/Surgical Management" will outline the commonly used medical/pharmaceutical interventions, and surgical procedures that may be used to address primary deficits or secondary sequelae such as range-of-motion deficits. Section V, "Key Implications for Therapeutic Management" will specify the potential role of each member of the interprofessional rehabilitation team, general aspects of the most likely aspects of therapy in rehabilitation to be included in the plan of care, and contraindications/precautions for those interventions. This section will also include the most likely "Preferred Practice Pattern(s)" from the "Guide to Physical Therapist Practice"; even though the most recent version of the "Guide" does not include the Preferred Practice Patterns, they are available in an online Guide supplement (APTA, 2017). Section VI, "Consumer and Professional Resources" will list available online resources and specific agencies and associations that provide support to individuals with the diagnosis.

While reviewing these diagnosis outlines, the reader can obtain more specific information on examination and intervention by referring to related chapters earlier in the textbook. For example, specific examination tests and measures are described in Section II, Chapter 3,Chapter 4,Chapter 5,Chapter 6,Chapter 7,Chapter 8,Chapter 9,Chapter 10,Chapter 11,Chapter 12,Chapter 13. General principles and therapeutic approaches for intervention are found in Section III, Chapter 14,Chapter 15,Chapter 16,Chapter 17. Specific interventions to address underlying body system impairments are covered in Section IV, Chapter 18,Chapter 19,Chapter 20,Chapter 21,Chapter 22,Chapter 23,Chapter 24,Chapter 25,Chapter 26,Chapter 27,Chapter 28,Chapter 29,Chapter 30,Chapter 31,Chapter 32 and specific interventions to address functional limitations are covered in Section V, Chapter 33,Chapter 34,Chapter 35,Chapter 36,Chapter 37.

References

Acquired Immune Deficiency Syndrome (AIDS) – Neurologic Deficits

I. Etiology

• AIDS is the final stage of HIV in which the immune system becomes dysfunctional.

• Incidence and Prevalence

  1. Genetic research indicates that the first human contraction occurred in the 1920s in what is now the Democratic Republic of Congo. (Faria, 2014)

  2. Scientists now estimate that the first infection of HIV came from Haiti to the U.S. between 1970-1971 (Worobey, 2016)

  3. Currently, there are 36.9 million people infected with HIV/AIDS worldwide. (Kuznik, 2016)

  4. Approximately 50, 000 new cases are diagnosed each year in the U.S. (Huang, 2016)

  5. Alabama, Florida, Georgia, Louisiana, Mississippi, and North Carolina, South Carolina, Tennessee, and Texas are referred to as "targeted states" for HIV/AIDS due to poverty, population health, and negative health outcomes for HIV-infected individuals. (Reif, 2015)

  6. In the United States, HIV/AIDS infections are highest among males of African American and/or Latin American race. (Center for Disease Control and Prevention, 2015)

• Caused by retrovirus human immunodeficiency virus type-1 and type-2. (Hladik, 2008)

  1. HIV-1 and HIV-2 are lentiviruses, which cause chronic infections in mammals (Sharp, 2011)

• HIV-1 and HIV-2 are spread through contact with infected bodily fluids, mainly sexual contact, IV drug use particularly when sharing needles, contaminated blood, and from mother to child during birth. (Greene, 2007)

  1. 30-40% of women infected with H IV acquire it through sexual intercourse. (Hladik, 2008)

• Immunoactivation, the activation of the immune system below the level of chronic inflammation, encourages pathogenesis of the etiological agent HIV-1. (Margolis, 2015)

  1. CD4+ T-cells are the clear target of HIV-1. HIV-1 infects the CD4+ T-cells and then uses these cells to replicate. The natural immune response activates other lymphocytes in the area, bringing in additional uninfected CD4+ T cells as targets for HIV-1 infection (Margolis, 2015), with ultimate reduction of the number of CD4+ T-cells, the bodies main infection-fighting mechanisms.

II. Diagnostics

• Symptoms

  1. Initial Infection

     • A small number of individuals will experience flu-like symptoms upon initial infection (fever, chills, rash, and sore throat).

  2. Later Stages

     • Later stages include chronic diarrhea, weight loss, and signs and symptoms of other opportunistic infections.

  3. After initial flu-like symptoms resolve, individuals can be asymptomatic for up to 10 years after exposure to HIV.

• Signs

  1. Opportunistic Diseases

     • The manifestation of opportunistic diseases that normally do not infect individuals with normal immune systems, particularly infections and cancer. (Greene, 2007)

     • The presence of viral induced cancers including Kaposi's sarcoma, Burkitt's lymphoma, primary central nervous system lymphoma, and cervical cancer. (Vogel, 2010)

  2. Wasting syndrome

     • An unintended loss of 10% of body mass combined with at least 30 days of diarrhea and fever.

  3. Compromised Cognition and Dementia

     • HIV infected individuals experience premature aging in the neocortex, the thalamus, and all regions that are involved in higher-cognition and integration, with risk for compromised cognition and dementia (Pfefferbaum, 2014)

     • If the patient with AIDS has AIDS dementia they will present with cognitive, motor, and/or behavioral problems. (Valcour, 2004)

  4. Distal sensory polyneuropathy

     • The most common neurological complication associate with AIDS. (Gonzalez-Duarte, 2008)

     • May occur once AIDS is confirmed (Gonzalez-Duarte, 2008)

  5. Tests

     1. A recent study found the "test window period" range for HIV infection to be 5.9 to 24.8 days after introduction – meaning this is the amount of time it takes for the doctor and patient to be 100% sure of infection. (Delaney, 2017)

     2. Hemotologic testing

        • Used to determine CD4 cell levels. (Williams, 2000)

        • An individual is considered to have AIDS if CD4 levels are below 200 cells/mm³ and are infected with the HIV virus. (Greene, 2007)

        • In developing countries, testing for CD4 cell count is expensive and sometimes impossible to access. In those cases, serum albumin levels directly correlate with CD4 cell counts in immunosuppressed individuals. (Rajasekhar, 2016)

     3. Nucleic acid testing

        • Used if a person has had a recent exposure to the virus and needs a definite positive or negative diagnosis.

        • It can detect the virus early in the first stages of infection, but it is not used as a screening tool because of the high cost.

     4. Viral load testing

        • Can be done by examining the level of HIV-1 RNA in peripheral blood (Vogel, 2010)

     5. Rapid assays are now available that allow detection of HIV infection using home testing kits.

        • These provide a simple yes-no result format and use saliva to detect specific antibodies in less than 30 minutes. These tests are available in most developed countries; however, there are limitations to these assays. Development of assays as a simple packaged test that only needs a cell phone to provide test results may enable developing countries with little infrastructure to accurately test for HIV. (Ocwieja, 2015).

     6. Subjective memory complaints (SMC) have been found to be a reliable marker in HIV-positive adults for actual cognitive deficits. (Kamkwalala, 2016)

III. Prognosis

• There is currently no effective vaccine for HIV/AIDS. (Greene, 2007)

• AIDS is always fatal (Vogel, 2010)

• Antiretroviral Pre-Exposure Prophylaxis (PrEP) prior to HIV exposure has been shown to prevent HIV/AIDS contraction in high-risk populations. This relatively new treatment requires patients to take daily, oral doses of one or two drugs continually while their lifestyle involves risky behaviors. (Okwundu, 2012)

• AIDS-related deaths have declined by 42% since peaking in 2004. (UNAIDS, 2016)

• Effects of Antiretroviral Therapy

  1. With highly active antiretroviral therapy treatment (HAART) life expectancy is greatly increased. A healthy 25-year-old infected with HIV and on HAART therapy can expect to live to approximately 77. (Vogel, 2010)

  2. Mortality has increased by 50% among adolescents with HIV. This increase occurred from 2005 to 2012 and is associated with lack of adherence to antiretroviral therapy (ART). The importance of adhering to ART cannot be overstated. (Denison, 2015)

  3. Those with HIV/AIDS not on a HAART treatment cycle show a five-time great incidence of AIDS related complications than those on a HAART treatment cycle. (Cain, 2009)

  4. HIV-infected individuals who are homeless or have unstable housing are least likely to adhere to antiretroviral therapy and in result have poorer prognosis. (Aidala, 2016) E

• Individuals with AIDS show a higher incidence of dementia, CVA, and decreased neuroglial function. (Valcour, 2004)

• Individuals with neurological problems caused by cerebral toxoplasmosis and a CD4 level <50 cells/mm³ have an average life span of 10 months after diagnosis of cerebral toxoplasmosis. (Laing, 1996)

IV. Medical management

• Highly Active Antiretroviral Therapy (HAART)

  1. HAART is a combination of antiretroviral medications used to suppress the replication of the virus, and is the most effective treatment for AIDS. (Vogel, 2010)

  2. Treatment is started when CD4 levels drop below 200 cells/mm³. (Cohen, 2011) 3. Recent research suggests health benefits for patients and decreased HIV transmission rates when antiretroviral treatment is begun immediately after HIV diagnosis regardless of CD4 count. (Lundgren, 2015)

• Experimental HIV therapies are being investigated to find a cure.

  1. These include application of HAART during acute infection, latency-reversing compounds, altering certain genes through gene editing, and combinations of other therapies. Latency reversing compounds currently show the most promise, but further research is needed. (Dubé, 2014)

  2. Timothy Brown is the only patient that has been cured of HIV. He received allogeneic stem cell engraftment and high-dose chemotherapy. This resulted in complete eradication of the HIV virus; however, this result has not been replicated in another patient. (Dubé, 2014)

  3. Newly developed antibody is now being tested in humans. Anti-CD4-binding-site antibodies 3BNC117 and VRCO1 have helped decrease HIV RNA levels, but the new 10-1074 antibody is stronger and has success in reducing the viral activity – this study is calling for further research on this antibody; this could be a promising option for treatment in the future. (Caskey, 2017)

V. Implications for therapeutic management

• Preferred practice patterns (APTA, 2017):

  1. 4C: Impaired muscle performance

  2. 5A: Primary prevention/risk reduction for loss of balance and falling

  3. 5E: Impaired motor function and sensory integrity associated with progressive disorders of the CNS

  4. 5G: Impaired motor function and sensory integrity associated with acute or chronic polyneuropathies

  5. 6A: Primary prevention/risk reduction for cardiovascular/pulmonary disorders (decreased functional work capacity and maximum aerobic capacity)

  6. 6B: Impaired aerobic capacity/endurance associated with deconditioning

  7. 6C: Impaired ventilation, respiration/gas exchange and aerobic capacity/endurance associated with deconditioning

  8. 6D: Impaired aerobic capacity/endurance associated with cardiovascular pump dysfunction or failure.

• Treatment for weakness and decreased cardiopulmonary function

  1. Resistance training, and resistance training and aerobic training are considered to have a beneficial effect on cardiopulmonary function, body weight, and strength without affecting immune status. (O'Brien, 2009)

  2. In one case study, a 12-week manual therapy and exercise program demonstrated total elimination of pain during exertion as well as a total elimination of shortness of breath. Patient also had an increase in CD4+ cell count and showed significant improvements in nearly all categories of quality of life. (Pullen, 2014)

• Treatment for peripheral neuropathy

  1. Night splints are shown to decrease pain scores in AIDS patients with peripheral neuropathy. (Sandoval, 2010)

  2. Consistent progressive resistive exercise has been shown to improve quality of life for patients with distal symmetrical polyneuropathy associated with HIV/AIDS antiretroviral therapy. (Mkandla, 2016)

• Prevention of the spread of HIV

  1. Physical therapists are at low risk for infection when working with a patient with AIDS, unless performing wound care or debridement, in which case they should don PPE. (U.S. Public Health Service, 2001)

• Education:

  1. Education should be centered on reducing sexual risk factors: especially not having sex, being monogamous, and each person knowing self and partner's status. (AIDS.gov)

  2. Other members of the health care team need to provide information about medication and possible side effects, test results, any procedures being performed, medical treatments, and symptom management. (AIDS.gov)

  3. Further education on the importance of adhering to ART should be emphasized to adolescents living with HIV. Several factors have been shown to help improve ART adherence among this population: using a cell phone's alarm clock, attending clinic-sponsored youth groups, and a desire to maintain a healthy lifestyle. (Denison, 2015)

• Five important factors for exercise with HIV/AIDS (Li, 2017):

  1. Group exercise for social interaction

     • Promotes adherence to exercise for people living with HIV/AIDS by decreasing stigma and increasing social support

  2. Exercise, but also consider the social/self-management aspect and offer support sessions

  3. Integrate with other chronic illnesses to decrease stigma

  4. Flexible structure due to unpredictability of HIV/AIDS

  5. Make sure the program is affordable.

VI. Consumer and Professional Resources

• For information on the HIV virus:

  • AIDS.gov

  • U.S. Centers for Disease Control and Prevention

  • AIDS Info – Facts, Education, and Next Steps after Infection at

    • https://aidsinfo.nih.gov

• For information about AIDS support groups:

  • National AIDS Hotline

    • 1600 Clifton Road Atlanta, GA 30333

    • 800-232-4636

    • www.cdc.gov

• For Information on Camps/Retreats:

  • A website with a list of camps for children infected with HIV/AIDS

    • http://www.mysummercamps.com/camps/Special_Needs_Camps/HIV_a nd_AIDS/index.html

• For information about AIDS organizations:

  1. A website with a list of AIDS organizations

     • http://www.aids.gov/federal-resources/around-the-world/global-hiv-aids-organizations/

References

Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)

I. Etiology

• Incidence and Prevalence

  • 2-3/100,000 per year in developed countries, worldwide rates unavailable due to lack of data in developing regions (Hersi, 2016; Wang, 2016))

  • Cost to society in the United States is estimated to be $256 million to $433 million (Chen, 2016)

  • More common in men than women (ratio 1.5:1) (Wang, 2016)

    • There are some sex and age-related factors: "respiratory onset disease tends to be more prevalent in men, and a predilection for isolated corticobulbar disease has been noted in elderly women"(Turner, 2013).

  • Ages between 55-65; distinctly uncommon before 20 (Ferguson, 2007; NINDS 2011)

  • Mortality lowest in population of mixed ancestry (Zaldivar, 2009)

    • Hispanic and African populations have lower incidence of ALS (Wang, 2016)

  • Established risk factors include: male sex, older age, genetics, family history, occupational and environmental factors (exposure to chemicals, heavy metals, and pesticides) and head trauma" (Hersi, 2016)

    • Other proposed factors include: Mechanical and electrical traumas; smoking; heavy physical activity; some professions such as welding, farming and animal breeding; and previous viral infections (Mitchell, 2000; Armon, 2003; Ingre, 2015; Wang, 2016); professional sports involvement, decreased body mass index, lower educational attainment, and repetitive/strenuous work/occupations (Wang, 2016)

• ALS is now thought to represent a heterogeneous group of diseases that share clinical features, rather than a single disease (Marangi, 2015).

• ALS is characterized by progressive degeneration of upper motor neurons in the brain with UMN symptoms, and lower motor neurons in the brainstem (cranial nerve nuclei) and spinal cord (alpha motor neurons) with LMN symptoms (Gordon, 2013; Wang, 2016).

• More than 25 genes linked to ALS have been identified (Marangi, 2015).

  • "70% of all monogenic cases of ALS have been reported to result from mutations in three genes: C9orf72, SOD1, and TARDBP." (Hersi, 2016)

  • Familial ALS (fALS): genetic mutation of SOD1 (Brown, 2005) on chromosome 21, which produces free radicals; 10-20% of all ALS cases (Benatar, 2009).

    • Requires only one parent to carry the gene (NINDS, 2011)

    • 20% of fALS caused by mutation of SOD1 gene (Turner, 2013), while 50% of fALS is thought to be linked to a mutation to the recently discovered C9orf72 gene (Robberecht , 2013)

    • fALS is inherited autosomal dominant; X-linked/recessive is rare for fALS (Robberecht, 2013)

• Sporadic ALS (SALS): No known cause, accounts for 90% of all ALS cases (Brown, 1997).

  • In addition to genetic factors; age, tobacco use, and athleticism may contribute to sporadic ALS, but important etiologies are unidentified for most patients (Gordon, 2013).

• Theories of ALS causes:

  • Increased glutamate in CSF causing excitotoxicity, autoimmune disorder, or environmental causes (Brown, 2005) such as cigarette smoking (Gallo, 2009)

  • Mutations and pathology associated with the TDP-43 gene and protein now thought to be more common than SOD1 mutations in familial and sporadic ALS (Rothstein, 2009)

  • Recently linked to an expansion of an intronic hexanucleotide repeat gene, C9orf72, providing evidence that ALS and frontotemporal dementia are manifestations of a clinicopathological spectrum (Turner, 2013)

    • "The apparent RNA binding function of the C9orf72 expansion adds to known manifestations in other key RNA processing and proteosomal genes linked to ALS: TARDP, FUS, and UBQLN2; these reinforce the concept that ALS pathogenesis involves multiple pathways (Turner, 2013).

  • "SOD1 A4V variant produces a rapidly progressive LMN syndrome" (Turner, 2013).

  • "FUS mutations are linked to a juvenile onset with mostly LMN syndrome" (Turner, 2013).

  • "C9orf72 hexanucleotide repeat expansion gene is associated with a younger age of onset, shortened survival, increased rates of cognitive and behavioral impairment, and a strong family history of neurodegenerative disease" (Turner, 2013).

• Pathologic mechanisms involve: "mitochondrial dysfunction, protein aggregation, excitotoxicity, and oxidative stress, with consequent loss NMJ integrity, retrograde axonal degeneration, and motor neuronal cell death" (Bucchia, 2015); "loss of neurotrophic factors, inflammatory signaling, endoplasmic reticulum dysfunction, and protein misfolding" (Chen, 2016)

II. Diagnosis

• "ALS manifests as an insidious, inexorable decline in motor function, with progressively compromised strength, coordination, gait, and respiratory function, leading to death within an average of 3 to 5 years from diagnosis." (Chen, 2016)

• Signs and Symptoms

  • Vary with each patient

  • Muscle weakness, without sensory abnormalities, in one or more limbs (most common initial symptom) (Zoccolella, 2006)

    • Loss of functional motor units is rapidly progressive, especially in the early stages of the disease and may begin as early as 18 months before clinical weakness is apparent. (Carvalho, 2016)

    • Lower motor neuron (LMN) involvement, often the first evidence of the disease, includes insidiously developing asymmetrical weakness, usually in the distal aspect of one limb and progressing to weakness of contiguous muscles.

      • Focal muscle weakness symptoms may start either distally or proximally in the upper limbs and lower limbs. (Wijesekera, 2009)

      • ALS begins in the limbs, usually in the arms, in about two-thirds of patients. The first symptoms are most often unilateral and focal (Gordon, 2013).

  • Upper Motor Neuron (UMN) symptoms can include spasticity (loss of inhibition) with impaired dexterity, poor motor control and weakness.

    • Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. During late stages of the disease patients may develop 'flexor spasms', which are involuntary spasms occurring due to excess activation of the flexor arc in a spastic limb. (Wijesekera, 2009)

  • Difficulty with speech, projection, and breathing (ALSA.ORG, 2007)

    • On examining the cranial nerves, the jaw jerk may be brisk, especially in bulbar-onset disease. An upper motor neuron type facial weakness affects the lower half of the face causing difficulty with lip seal and blowing cheeks, but often varying degrees of UMN and LMN facial weakness co-exist. (Wijesekera, 2009)

  • Twitching or muscle cramps, especially in hands and feet

  • Sensation including temperature, pain, taste, hearing, vision, and olfaction is usually spared in ALS. Also spared are muscles of sphincters including both smooth and striated and muscles of ocular movement. (Wang, 2016)

  • "Cognition, eye movement, autonomic, bowel, bladder, and sexual function usually remain intact" (Bello-Haas, 1998).

    • Cognitive impairments may be present in 50% of patients with ALS (Ringholz, 2005), including dementia and impaired executive dysfunction (Wang, 2016)

• Diagnosis: (ALSA.ORG, 2009)

  • No specific test currently available to diagnose ALS (Wang, 2016), and particularly because of rapid disease progression and lack of study participants in early stage of ALS. (Huynh, 2016)

  • History, physical, and appropriate neurological examinations to ascertain clinical finding that may suggest suspected, possible, probable or definite ALS.

    • Electrophysiological examinations to ascertain findings which confirm LMN degeneration in clinically involved regions, identify LMN degeneration in clinically uninvolved regions and exclude other disorders

    • Muscle ultrasound can detect loss of muscle volume and can show changes in muscle echo which could be used in early diagnosis of ALS. (Carvalho, 2016)

    • Combining threshold tracking TMS and FDG-PET imaging have the highest sensitivity and specificity for identifying UMN abnormalities. (Huynh, 2016)

    • Neuroimaging examinations to ascertain findings which may exclude other disease processes (ALSA 2010)

    • Clinical laboratory examinations, determined by clinical judgment, to ascertain possible ALS related syndromes

    • Diagnosis typically made clinically when unusual clinical signs are seen and using differential diagnoses. Findings such as both UMN and LMN signs in spinal and bulbar voluntary muscles (Wang, 2016)

    • Neuropathologic examinations, where appropriate, to ascertain findings which may confirm or exclude sporadic ALS, coexistent sporadic ALS, ALS-related syndromes, or ALS variants

    • Repetition of clinical and electrophysiological examinations at least six months apart to ascertain evidence of progression.

  • "The current clinical standard for diagnosis of ALS is the Revised El Escorial World Federation of Neurology Criteria." (Ferguson, 2007)

  • "Clinical evaluation and Awaji criteria, which are based on innervation and denervation, have been established as a useful diagnostic aid" (Turner, 2013)

    • The Awajii criteria allow earlier diagnosis and are clinically significant

    • Awaji criteria Diagnostic Classification (Costa, 2012):

      • "Clinically definite ALS is defined by clinical or electrophysiological evidence by the presence of LMN as well as UMN signs in the bulbar region and at least 2 spinal regions or the presence of LMN and UMN signs in 3 spinal regions."

      • "Clinically probable ALS is defined on clinical or electrophysiological evidence by LMN and UMN signs in at least 2 regions with some UMN signs necessarily rostral to the LMN signs."

      • "Clinically possible ALS is defined when clinical or electrophysiological signs of UMN and LMN dysfunction are found in only 1 region or UMN signs are found alone in >2 regions or LMN signs are found rostral to UMN signs."

  • Clinical diagnosis, defined by progressive signs and symptoms of both upper and lower motor neuron dysfunction, is confirmed by electromyography (Gordon, 2013)

    • Fasciculations in affected muscles is the first abnormality found in EMG testing in individuals with ALS. (Carvalho, 2016)

  • Requirements to be diagnosed with ALS:

    • LMN signs by clinical, electrophysiological, or neuropathological examination

    • UMN signs by clinical observation (+ Babinski found in 30-50% of patients) (Ferguson, 2007)

    • Progression of the disease within a body region or to another body region

    • Absence of electrophysiological and pathological evidence of other diseases affecting UMN and LMN

  • With the exception of a genetic test for FALS, there is no one specific diagnostic test used for ALS (ALSA 2010; Pradham, 2006)

  • Presymptomatic individuals have been shown to have changes in LMN as well as the "development of cortical hyperexcitability within a year of symptom onset" (Turner, 2013).

III. Prognosis

• Highly progressive disease; terminal and irreversible (Wang, 2016)

• Progression

  • Onset of ALS is initially observed by the patient as weakness in the distal part of one limb. Excess fasciculations and cramping of forearm and upper arm muscles may occur as well. Ultimately the patient will develop a triad combination of atrophy and weakness of the hands and forearms, slight spasticity and fasciculations of the arms and/or legs, and general hyperreflexia.

  • Mild weakness in specific muscle groups, severe weakness in some muscle groups with mild weakness in other groups, pain, decreased mobility, decreased ADL function, wheelchair dependency, dysarthria and dysphagia, complete ADL dependence, respiratory compromise, severe weakness in almost all muscle groups

  • Degeneration typically spreads throughout the local segment before it moves to the next spinal cord segment, and follows a caudal to rostral spread of signs and symptoms

  • Diminished muscle strength and atrophy occur on both sides of the body, however, not necessarily at the same rate.

    • For weeks or months, the patient may not observe any increase in symptoms, but clinical changes are still identified.

  • Can be generalized into 3 stages, early, middle, and late, based on impairments, functional limitations and disabilities.

  • Sinaki and Mulder describe 6 stages "based on progressive loss of function in the trunk and extremity muscles" (Sinaki, 1988)

    • Disease course divided into 6 stages: stage 0 (no loss of function) – stage 5 (death) (Wang, 2016)

  • "At least 1/3 of muscle fibers have already been lost before clinical wasting occurs" (Turner, 2013).

  • Transcranial magnetic stimulation (TMS) findings, particularly amplitude can objectify corticospinal tract involvement in ALS and may be a marker of disease progression (Floyd, 2009).

  • There are 5 possible risk factors that may affect the progression rate of ALS in patients. These risk factors include: nutritional status (such as vitamin D deficiency), smoking, comorbidities, lack of supportive care, and ethnicity and genetic factors. (Wang, 2016)

• Survival Rate

  • The two most important predictors for survival rate are age and disease type (Wang, 2016)

  • Most patients die of respiratory muscle weakness less than 3 years from symptom-onset (Gordon, 2013; Wang, 2016).

  • Median survival is 19 months from diagnosis and 30 months from onset on average, with range from months to decades (Logroscino, 2008; Lacomblez, 1996).

  • Average survival rate from onset to death (usually due to respiratory failure, pneumonia, asphyxia due to a foreign body, or pulmonary embolism (Gil, 2008)) is 3-5 years (Ferguson, 2007; Robberecht, 2013).

    • About 10% of individuals with ALS survive for 10 or more years (NIH 2011; Wang, 2016), with some surviving up to 20 years (Robberecht, 2013), and rare cases surviving more than 50 years (Wang, 2016).

  • Increased survival rate since using proper medical guidelines with pseudobulbar, but other recommendations, like PEG and noninvasive positive pressure ventilation underutilized (Miller, 2009)

• Prognostic Indicators

  • Age at the time of diagnosis is the most predictive factor (<35yo has an increased survival time) (Lee, 1995)

  • Psychological health can increase or decrease lifespan as well

  • The type of ALS also affects prognosis; bulbar onset have a worse prognosis than limb onset ALS (Wang, 2016)

    • Analysis of large patient samples drawn from clinic based populations or population registries consistently show that the overall median survival from onset of symptoms for ALS ranges between 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. (Wijesekera, 2009)

  • The flail arm (FA) and flail leg (FL) syndromes had significantly better survival than typical ALS (Wijesekera, 2009).

  • Sniff Nasal Inspiratory Pressure (SNIP) measured at baseline identified ALS patients with early respiratory dysfunction, being a strong prognostic indicator of tracheostomy or death within 1 year (Capozzo, 2014).

  • "Weight loss upon initial presentation may be seen and portends a poor prognosis." (Ferguson, 2007)

  • ALS functional rating scale (ALSFS) can measure disease severity using 10 basic functions and a score from 0-40. Functions are based from four key functional domains including: "swallowing, walking/self-care, communicating, and breathing" (Wang, 2016)

IV. Medical/Surgical Treatment

• There is no cure for ALS

  • Research for prospective pharmacological treatment limited because mouse studies do not correlate well with human studies because onset of the symptoms occurs "long before an ALS diagnosis is confirmed so pathogenesis has progressed too far to have any therapeutic effect." (Browne, 2016; Kumar, 2016)

• Pharmaceutical Treatment

  • Two drugs FDA approved in the U.S. to treat symptoms of ALS (Kumar, 2016)

    • Riluzole,

      • Riluzole, a glutamate antagonist, is the only drug approved by the FDA for the treatment of ALS. It has been linked to increased survival, but has not been shown to slow the progress of muscular degradation (Bucchia, 2013). In two therapeutic trials, riluzole prolonged survival by three to six months. In one of these trials, treatment slightly slowed the decline in the strength of limb muscle; there was no benefit with respect to many measures of function in either trial. (Rowland, 2001)

      • A glutamate inhibitor, can be combined with Vitamin E, is the most common pharmaceutical treatment, improving survival by 2-3 months.

        • 100 mg/day has been found to prolong survival by about 2 months. (Miller RG, 2003)

    • Nuedexta was FDA approved in 2010 to treat pseudobulbar affects. (Kumar, 2016)

• Vitamin D

  • Shown to influence multiple aspects of Amyotrophic Lateral Sclerosis and can improve compromised human muscular ability, increase muscle size, and ATP production. Vitamin D can also reduce the expression of biomarkers associated with oxidative stress and inflammation in patients with MS, RA, CHF, PD, and Alzheimer's, all of which share common pathophysiology's with ALS (Gianforcaro, 2014).

• Anticonvulsant medication, benzodiazepams, lorazepam, and narcotics for muscle cramps, spasticity, fasciculations, & pain treatment (respectively)

• Antidepressants and anti-anxiety medication

• Palliative Care (Hardiman, 2010):

  • Dyspnea: treated with opiates or benzodiazepines

  • Morphine:2.5mg: administered 4-6/day followed by morphine if necessary

  • Nocturnal Symptom Control and Anxiety: Midazolam(2.5-5mg) or diazepam

  • Pain management: opiates

  • Terminal restlessness and confusion due to hypercapnia: Neuroleptics

• Cell-based therapies aimed at modulating the neuroinflammatory response in ALS may help arrest the progressive and devastating nature of this disease (Hooten, 2015).

• Dysphagia and Dysarthria treatment:

  • Work with speech language pathologists and dieticians, percutaneous endoscopic gastronomy, and palatal lift prosthesis

• Respiratory weakness treatment:

  • Yearly influenza vaccine, supplemental O2, noninvasive positive pressure ventilation oral/pulmonary secretion management, tracheostomy

  • Non-invasive ventilation (NIV) has been shown to increase quality of life and prolong survival in ALS patients with respiratory failure. (Radunovic, 2013)

• Surgical Techniques:

  • The decision ultimately faced by all patients (with extensively progressed ALS) is whether to elect to undergo a tracheostomy for long-term mechanical ventilation. That choice can be postponed by the use of noninvasive positive-pressure ventilation, which relieves symptoms and prolongs life. (Rowland, 2001)

• Current strategies include: "directing treatment against inflammation factors, kinases, and key genes. Stem cell transplantation is promising due to its ability to reduce inflammation and replace micro- environmental cells, such as astrocytes and NSC's" (Bucchia, 2015)

  • New studies are showing in treating ALS by injecting mesenchymal stem cells into the spinal cord and slowing the linear decline of forced vital capacity and of the ALS-FRS score. (Mazzini, 2008)

  • New stem cell research shows potential for induced pluripotent stem (iPS) cells for motor neuron survival by dedifferentiating adult fibroblasts. The iPS cells have many possibilities but currently show the need for immunosuppression in ALS patients, which would raise costs. (Chen, 2016)

• Ongoing research for treatment of ALS include: gene therapy, immunotherapy, and vaccines (Kumar, 2016)

V. Therapeutic Management

• Practice Pattern

  • 5E Impaired motor function and sensory integrity with progressive disorders of the Central Nervous System (APTA 2003)

• Team Approach to treatment includes:

  • Speech Therapist, Physical Therapist, Nutritionist, Occupational Therapist (Mayo Clinic, 2012)

• The primary goal of all health care professionals involved with treating patients with ALS is maintaining patients' quality of life and their independence in functional mobility and ADLs. (Lewis, 2007). There is no current cure for ALS. (John Hopkins University, 2011)

  • Restorative therapy is used to decrease impairments and improve functional status.

  • Compensatory therapy is used to modify activities, tasks, and environment.

  • Preventative therapy is used to increase ROM, strength, and aerobic capacity.

• Re-evaluations are crucial with ALS patients to continually update the patient's status and adjust the plan of care accordingly.

  • It is important to modify rehabilitation strategies based on changes in disease status (Majmudar, 2014).

• Muscle cramps and spasticity treatment:

  • Massage and stretching for cramps; moderate exercise for spasticity (Ashworth, 2004), PROM, and botulinum toxin injections (Lewis, 2007)

  • Intrathecal Baclofen via ITB pump is an effective and safe treatment modality for relief of spasticity-related pain, with no postoperative neurologic morbidity/mortality (McClelland, 2007).

• Respiratory weakness treatment:

  • Education, positioning and strategies, breathing exercises, airway clearance techniques

    • Inspiratory muscle training (IMT) is shown to have short term effects in ALS patients with respiratory insufficiency. (Macpherson, 2016)

    • Lung volume recruitment training (LVRT) has been found to increase survival and quality of life in ALS due to its long term effects on pulmonary function. (Macpherson, 2016)

  • Mechanical Ventilation: Invasive procedure that can be undertaken willingly and in emergency situations. Patients should be made aware of emergency situations and a plan should be made to avoid those situations at all costs (Hardiman, 2010).

  • Non-invasive ventilation is an important development and can prolong life up to 9 months (Hardiman, 2010)

• Muscle weakness treatment:

  • Exercise to maintain strength, appropriate use of splints, slings, orthoses, etc.

  • Exercises to promote strength, range of motion, balance and endurance may dominate the early therapy program. (Walling, 1999)

  • Carefully evaluate each individual with ALS every few months to gather adequate information to safely adjust strengthening and conditioning exercise. Approach exercise programs with caution for individuals in later stage ALS who have low respiratory capacity and/or poor functional scores (Lui, 2009)

• Decreased mobility and ADL function:

  • Education for transfers and energy saving techniques, appropriate adaptive equipment, proper wheelchair prescription, possible home modifications

  • In addition to carrying out the therapy program, physical therapists can help patients and families select and use equipment ranging from simple splints and neck supports to complex, multiple supportive devices and wheelchairs. (Walling, 1999)

  • Involvement of Physical Therapists along with orthotists is important to identify the optimal brace; brace use will need to be adjusted as the disease progresses. (Majmudar, 2014)

  • It is important to use equipment/technology that can prolong independence as long as possible; unfortunately, most insurance carriers do not cover these devices. (Majmudar, 2014)

  • "Because of the uncertainty of its effects, exercise has not been a standard treatment for ALS." (Lewis, 2007), but a Cochrane review found that more research is needed in this area. They did note "exercise produced a greater average improvement in function than usual care, and there were no reported adverse events due to exercise" (Dal Bello-Haas, 2013).

• Psychological treatment:

  • Discerning the signs of depression and making an appropriate referral, caregiver education in the cognitive deficits associated with fronto-temporal dementia (Lewis, 2007)

  • Ongoing change and adaptation model framework for the decision-making processes (King, 2009)

  • One RCT indicated that a group of patients that disclosed feelings about ALS had higher well-being (at three months post intervention, but not six months) than a group of patients that did not disclose feelings. (Averill, 2013)

  • "Expressive disclosure (being able to disclose all thought and feelings about the diagnosis of ALS), may be helpful for people with ALS, but only those who have difficulty expressing emotions." (Averill, 2013)

• Nutritional Support

  • "Early in the disease course, without dysphagia, monitor food and fluid intake monthly to assure that nutrition and weight stability is sufficient, (Atsuta, 2009).

  • After onset of dysphagia, diet modification to soft semisolid textured foods, with thicker liquids is important to help prevent aspiration (Langmore, 1999; Perry, 2002)

  • Continued weight loss despite intervention (BMI <20 kg/m2 or >5–10 % body weight loss) requires artificial nutrition (Piquet, 2006; Cameron, 2002; Katzberg, 2011)

IV. Community and Professional Resources

• Amyotrophic Lateral Sclerosis Association

  • http://www.alsa.org/als-care/r

• National Institute of Neurological Disorders and Stroke: Amytrophic Lateral Sclerosis (ALS) Fact Sheet

  • http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm

• National ALS Registry

  • www.cdc.gov/als

• Les Turner ALS Foundation

  • www.lesturnerals.org

• Project A.L.S. – Finding and Funding a Cure for ALS

  • www.projectals.org

• ALS Caregiver's Guide

  • http://als-mda.org/publications/mda-als-caregivers-guide

• ALS Therapy Development Institute

  • http://www.als.net

• Robert Packard Center for ALS Research at John Hopkins

  • http://www.alscenter.org

• Team Gleason

  • http://www.teamgleason.org/learn/

References

Angelman Syndrome

I. Etiology

• A disorder of genomic imprinting that causes severe developmental and neurological deficits (Lalande, 2007)

• Estimated frequency of 1:10,000 to 1:40,000 births (Paprocka, 2007)

• Etiology: Genetic mechanisms:

  • Chromosome 15q11-q13 abnormalities: deletion in 70-75% of cases (most severely affected) and paternal uniparental disomy (UPD) in 2-5% of cases (Pelc, 2008; Clayton-Smith, 2003; Lalande, 2007; Didden, 2006)

  • Mutated UBE3A gene in 20-25% of cases (Jiang, 1999; Clayton-Smith, 2003; Didden, 2006)

  • Imprinting defects 2-5% of cases (Jiang, 1999; Clayton-Smith, 2003; Didden 2006)

    • Increased risk in child when mother's time trying to become pregnant is greater than 2 years (Ludwig, 2005).

    • Increased risk in child conceived by intracytoplasmic sperm injection (Cox, 2002)

• Pathogenesis: UBE3A encodes for ubiquitin protein ligase- responsible for eliminating damaged/unnecessary proteins (Matsuura 1997; Jiang, 1999; Guerrini, 2003, Dagli, 2012).

  • Cells most affected and associated symptoms: (1) Purkinje-ataxia and tremors (2) hippocampal-learning deficits and epilepsy (3) olfactory mitral cells-unknown presentation

II. Diagnostics

• Symptoms and Signs

  • Originally known as "Happy Puppet" syndrome because of characteristic jerky movements, happy demeanor, prominent smiling, bouts of laughter, and general cheerfulness (Pelc, 2008).

  • Facial Features- peculiar with wide mouth and wide-spaced teeth, large mandible, prominent chin, deep set eyes, blond hair, blue eyes, hypopigmentation, and an open-mouthed expression revealing the tongue (Guerrini, 2003; Pelc, 2007)

  • Motor Defects- delay in developmental milestones, slowing of head growth during the first year of life, ataxia, jerky movements, hyperactivity, hypotonia, epilepsy (causing bone mineral density loss), frequent drooling, excessive chewing behaviors, tongue protrusion and thrusting, hyperactive lower limb reflexes, flexed arm position on ambulation, hand flapping and body rocking (Coppola, 2007; Guerrini, 2003; Pelc, 2008; Didden, 2009)

  • Speech- absent verbal expressive communication, expressive communication: functional communication of manding greater than tacting and echoing, 30% use symbolic communication (Didden, 2004; Didden, 2009)

  • Intellectual disability: significant limitations; cognitive developmental level about 17 months; IQs<70 (Peters, 2004)

  • Other- flat occiput, scoliosis, strabismus, infant feeding problems, abnormal sleep-wake cycle, diminished need for sleep, GERD, constipation, fascination with water, heightened sociability and short attention spans, long standing fever in some children (Didden, 2006; Bruni, 2004; Pelc, 2008; Oliver, 2007; Yis, 2008)

  • Seizures, abnormal EEG, and microcephaly occurs in >80% of AS patients (Guerrini, 2003)

• Diagnostic testing

  Imaging Techniques:

  • CT scan-unilateral cerebellar and cerebral atrophy, ventricular dilation, larger fissures, small temporal and frontal lobes with disorganized and irregular gyri (Guerrini, 2003)

  • EEG-epileptiform abnormalities, notched delta (Clayton-Smith, 2003, Korff, 2005)

  • Neurochemical study-↓ GABA, ↓ purkinje and granule cells (Guerrini, 2003)

  Genetic Testing:

  • Methylation test will screen for three of the four known genetic mechanisms and diagnose AS in 80-85% of cases (Williams, 2015)

  • Further genetic testing to diagnose more rare forms or narrow down the genetic cause

• Clinical diagnosis made when the child is > 3 years of age 2° behavioral and movement characteristics (Williams, 2005)

III. Prognosis

• Non-progressive, but with variable degrees of symptoms secondary to acquired genetic etiology; a typical lifespan is expected.

• Developmental history and neurological sequelae

  • 6-12 months: developmental delay, decreased head circumference; 3 years of age.: seizures and abnormal EEG

  • 5-9 years of age: wide based gait, structurally characterized by ankle valgus

  • Adulthood: ↓hyperactivity, ↓sleep disturbances, ↓seizure frequency, exaggerated facial features; unable to live independently, but can perform simple home tasks (Guerrini, 2003; Peters, 2004; Didden, 2004)

IV. Medical and Surgical Management

• Surgical techniques (for symptoms)-adenoidectomy and tonsillectomy (↓ sleep apnea); surgical tightening of the esophageal sphincter (manage GERD); corrective eye surgery (↓ nystagmus); heel cord surgery (improve structure of foot and ankle); thoraco-lumbar rod stabilization (corrects severe scoliosis) (Guerrini, 2003)

• Pharmaceuticals-Depakote, Klonopin, Lamotrigene therapy, corticosteroids for seizures; Melatonin and diphenylhydramines for sleep disorders; laxatives for constipation, motility drugs for GERD, Methylphenidate for hyperactivity (Guerrini, 2003; Dion, 2007; Forrest, 2009)

• Minocycline has shown promising results in improving communication, fine motor ability, and auditory comprehension. (Grieco, 2014)

V. Implications of Therapeutic Management

• Interventions should be individualized to address musculoskeletal impairments, disorders of gait and movement, speech and language impairments, and behavioral issues that have led to activity limitations and participation restrictions. (Bonanni, 2009)

• Use of aquatic therapy to address range of motion deficits, decreased cardiovascular endurance, gait deficits, and poor motor control and coordination due to an affinity for water (Didden, 2009)

• Hippotherapy- may improve postural control, strength, coordination, self-esteem, and quality of life (Thompson, 2014)

• Physical therapy to monitor musculoskeletal development for signs of deformity and evaluate the use of adaptive equipment for prevention of joint deformity and to assist with functional activities i.e. helmet, gait devices, adaptive car seat, adaptive chairs and positioners, and orthotic bracing for foot deformity or scoliosis (Guerrini, 2003)

• Speech therapy to promote functional communication using augmentative communication and sign language (i.e. Digivox, Cheap-Talk4, Macaw) (Guerrini, 2003; Didden, 2004)

• Occupational therapy for environmental adaptations; special educators for educational adaptations and psychologists for behavior management (Guerrini, 2003)

• Dietician or nutritionist for consultation for children with increased body mass index (Brennan, 2015)

• All members of the rehabilitation team, along with parents and teachers provide input for individualized education programs to assist with success at school. Discrete Trial Instruction (DTI) approaches are appropriate for building functional skills in children with AS (Guerrini, 2003; Summers, 2009)

References

Arthrogryposis Multiplex Congenita

I. Etiology

• Arthrogryposis multiplex congenita (AMC) is a term used to describe the presence of multiple congenital joint contractures in than one area of the body; not a disease entity but a non-progressive clinical presentation of joint contractures (Kalampokas, 2012).

• The single term arthrogryposis denotes congenital contractures either in an isolated joint or multiple joints (Bamshad, 2009)

• Causes of arthrogrypotic syndromes are largely unknown, but most often multifactorial (Bevan, 2007).

  • Caused by genetics (endogenic) or fetal environment (exogenic)

• Subgroups of AMC (Bamshad, 2009, Kalampokasc, 2012)

  • Normal neurological neonatal status

    • Amyoplasia

      • Distinct symmetrical presentation with internally rotated/adducted shoulders, extended elbows, flexed wrist and ulnar deviated, stiff fingers, and thumb adduction, hips often dislocated, knees typically extended, feet with severe equinovarus contractures

    • Distal arthogryposis

    • General connective tissue disorder (diastrophic dysplasia)

    • Muscle abnormalities (muscular dystrophies, mitochondrial abnormalities)

    • Fetal movement limitation in the uterus (oligohydramnios, fibroids, multiple gestation)

  • Abnormal neurological neonatal status (most common cause at 70-80% of cases)

    • Abnormalities of forebrain, including neuronal migration

    • Central nervous system infection

    • Chromosome abnormalities

    • Motor neuron diseases (x-linked spinal muscular atrophy, Moebius syndrome)

    • Genetic peripheral neuropathies (maternal myasthenia gravis)

• More than 35 specific genetic disorders associated with arthrogryposis have been identified (Bevan, 2007).

• AMC has been described in all races and equally in both genders with an incidence of 1 in 5-10,000 (Mennen 2005).

• Normal intelligence is typical (Bamshad, 2009).

• Cases that present with decreased fetal movement during the first semester present are associated with the most long-term functional deficits (Donohoe, 2012).

II. Diagnostics

• Signs and Symptoms

  • Common signs and symptoms include: dimpling of skin over joints, clubfeet, muscle malformation, hemangiomas, absent or decreased finger creases, congenital heart disease, facial abnormalities (Donohoe, 2012).

  • All types have decreased fetal movement in common with limited range of motion and weakness is associated joint (Mennen, 2005).

  • Affected body areas: foot (78-95%), hip (60 -82%), wrist (43-81%), knee (41-79%), elbow (35-92%) and shoulder (20%-92%) (Donohoe, 2012)

  • Type I ("jackknifed"): flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, flexed and ulnarly deviated wrists (Donohoe, 2012).

  • Type II ("froglike"): abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulders, extended elbows, flexed and ulnarly deviated wrists (Donohoe, 2012).

  • Comorbidities include decreased muscle mass at times inhibiting distribution of some medications, difficult venous access, post-op more prone to respiratory problems (atelectasis, stridor, increased risk of aspiration, difficulty with intubation, and vertebral instability/scoliosis, facial/jaw abnormalities, congenital heart defects, abdominal hernias, tracheoesophageal fistulas, ophthalmologic abnormalities, gastrointestinal difficulties, and speech-language delays) (Bevan, 2007, Kalampokas, 2012)

• Diagnostic testing

  • Abnormal ultrasound and maternal perception of decreased movement in 2^nd and 3^rd trimesters of pregnancy (Bevan, 2007)

  • Radiographs, CT's, MRI's, EEG's, EMG's, muscle biopsy, and NCV studies are useful tools (Donohoe, 2012).

III. Prognosis

• Non-progressive

• In most cases, the outlook for those with AMC is positive with most children with amyoplasia functionally ambulating by 5 years old with varying degrees of functional ambulation in all types (50-78%) (Bevan, 2007)

  • Positive prognostic indicators for ambulation include active movement in hips and knees, knee flexion contracture less than 15 degrees without severe scoliosis (Fassier, 2009)

• Long term prognosis depends on the extent of involvement: mortality rate of 1%, 7%, and 50% for infants with limb, limb and other organ, and CNS involvement respectively.

IV. Medical/surgical Management

• Surgery may be utilized to align the angle of alkalosis, but range of joint motion is rarely improved (Milanese, 2007).

• Various operative procedures aim at reducing the deformities associated with AMC and are effective in improving mobility and ambulatory gains (Harold et al., 2007).

  • Osteotomies, carpectomies, elbow flexorplasty, various muscle transfers (Mennen, 2005).

V. Key Aspects of Therapeutic Management

• Congenital malformations and deformations of the musculoskeletal system: 2015 ICD-10-CM Diagnosis Code Q74.3

  • Primary impairments are limitations in joint range and decreased muscle strength and bulk (Donohoe, 2012).

• Role of the physical therapist: to maximize functional skills by using knowledge of biomechanics and typical development (Donohoe, 2012).

  • General physical therapy options

    • Physical therapy is a lifelong process and should be initiated early in the neonatal period (Fassier, 2009; Donohoe, 2012).

    • Primary goal is to promote independence in ambulation, communication, activities of daily living (Fassier, 2009)

    • Physical therapy goals (Donohoe, 2012):

      • Infancy

        • Reduce joint contractures (stretching, serial casting, bracing, splinting, and positioning)

        • Improve skeletal and extremity alignment to promote biomechanical advantage

        • Develop strength for functional mobility and teach alternative modes of mobility

        • Family education

      • Preschool

        • Continue therapeutic intervention to increase range and strength and maintain biomechanical advantage (orthotics)

        • Post-operative intervention to enhance position and function

        • Problem-solve basic self-care challenges, including adaptive equipment

      • School-age and Adolescence

        • Focus on independence in school environment

        • Promote independence in mobility

        • Maintain ROM during growth spurts

      • Adulthood

        • Maintain ROM and proper positioning

        • Address pain issues (neck, back, and joint typical)

        • Address arthritic changes in joints

        • Address mobility issues

        • Provide education to promote independence

        • Environment and work assessments

• Health promotion and prevention measures (education)

  • Parental involvement is a key factor in the success of physical therapy for infants (O'Flaherty, 2001).

  • Problem-solving with the family, child when appropriate, and healthcare team to promote opportunities for health and fitness

• Interdisciplinary health care team contributions include:

  • Pediatrician, geneticist, physical therapist, occupational therapist, and a pediatric psychiatrist (Bevan, 2007)

  • Addressing family centered goals to promote positive self-image and to maximize lifelong potential for independent living

  • Serving as a member of the educational team to promote success in the educational environment.

VI. Consumer and Professional Resources

• AVENUES: A National Support Group for AMC - http://www.avenuesforamc.com/index.htm

  • A support group for families and medical professionals with available networking, research, and publications about AMC

• Arthrogryposis Multiplex Congenita Support, Inc - http://www.amcsupport.org/

  • An AMC organization dedicated to providing educational material to parents and increasing awareness of AMC by means of conferences, meetings, and studies

References

Autism Spectrum (Pervasive Developmental Disorder)

I. Etiology

• Consistent with Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) published by the American Psychiatric Association (APA), the preferred terminology is "autism spectrum disorder" (ASD) which encompasses autism disorder, Asperger's disorder and pervasive developmental disorder but not Rett syndrome (APA, 2013).

• According to the Centers for Disease Control and Prevention (CDC), Autism and Developmental Disabilities Monitoring Network data from 2012, the combined estimated prevalence of autism among 8 year old children is 14.6 per 1000 (1 in 68 children); 4.5 times more prevalent in boys (1 in 42 boys); and highest among non-Hispanic white population (CDC, 2017).

• Likely multiple causes for different types of ASD including environmental, biologic and genetic risk factors (CDC, 2017):

  • Specific genes or gene mutations

  • Siblings of child with ASD (Hallmayer, 2011)

  • Children born to older parents

  • Maternal use of valproic acid or thalidomides during pregnancy

  • In association with certain other genetic disorders (e.g., fragile X, tuberous sclerosis, Down syndrome, neurofibromatosis)

• Neuropathophysiology: poorly understood, but findings include:

  • Under connectivity (Just, 2012)

  • Altered function of mirror neuron system (Enticott, 2012)

  • Variable abnormal findings with neuro-imaging

• Co-occurring diagnoses among 2,568 8-year old children with ASD: developmental (83%), psychiatric (10%), neurologic (16%) and possibly causative genetic or neurologic (4%) (Levy, 2010).

II. Diagnostics

• DSM-5 criteria for the diagnosis of autism spectrum disorder (APA, 2013):

  • Deficits in social communication and social interaction across multiple contexts:

    • Deficits may be in social-emotional reciprocity

    • Deficits in nonverbal communicative behaviors

    • Deficits in developing, maintaining, and understanding relationships

  • Restricted repetitive patterns of behavior, interest, or activities: the individual must demonstrate two of the following four criteria:

    • Stereotyped or repetitive motor movement, use of objects, or speech (line up toys, echolalia, etc.)

    • Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (difficulties with transitions, greeting rituals, etc.)

    • Highly restricted, fixated interests that are abnormal in intensity or focus (perseverative interests, strong attachment to or preoccupation with unusual objects, etc.)

    • Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment (adverse responses to sounds or textures, apparent indifference to pain/temperature, etc.)

  • Symptoms must be present in the early developmental period.

  • Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

  • Disturbances are not better explained by intellectual disability or global developmental delay.

• American Academy of Pediatrics recommends that primary care providers screen for ASD with valid and reliable tool during 18 and 24 month well-child visits because early detection and referral for early intervention services can improve outcomes (Zwaigenbaum, 2015; Daniels, 2014).

  • Screening tools are available, including:

    • Modified Checklist for Autism Spectrum Disorder in Toddlers (Dumont-Mathieu, 2005)

    • Pervasive Developmental Disorders Screening Test-II (Siegel, 2004)

    • Screening Tool for Autism in Two Year-Olds (Stone, 2000)

    • Social Communication Questionnaire (SCQ) (Rutter, 2003a; Rutter, 2003b; Bolte, 2008)

  • Comprehensive interdisciplinary evaluation should be based on DSM-5 diagnostic criteria. A number of evaluative tools are available (Academy of Pediatric Physical Therapy, 2015).

• Diagnosis can sometimes be made before 18 months of age and should be possible by an experienced professional by 2 years of age but may be delayed until children enter school environment (CDC, 2017).

• New genetic testing technology can identify a genetic etiology for approximately 15.8% of children with ASD (Tammimies, 2015).

• Common behaviors/symptoms in children or adults with ASD (CDC, 2017):

  • Not point at objects to show interest (e.g., not point at an airplane flying over)

  • Not look at objects when another person points at them

  • Have trouble relating to others or not have an interest in other people at all

  • Avoid eye contact and want to be alone

  • Have trouble understanding other people's feelings or talking about their own feelings

  • Prefer not to be held or cuddled, or might cuddle only when they want to

  • Appear to be unaware when people talk to them, but respond to other sounds

  • Be very interested in people, but not know how to talk, play, or relate to them

  • Repeat or echo words or phrases said to them, or repeat words or phrases in place of normal language

  • Have trouble expressing their needs using typical words or motions

  • Not play "pretend" games (for example, not pretend to "feed" a doll)

  • Repeat actions over and over again

  • Have trouble adapting when a routine changes

  • Have unusual reactions to the way things smell, taste, look, feel, or sound

  • Lose skills they once had (for example, stop saying words they were using)

• Almost half of children with ASD have average or above average intelligence, according to CDC-funded 2017 Study to Explore Early Development (SEED) (CDC, 2017)

• Possibly altered sleeping and eating patterns (CDC, 2017)

• Gross and fine motor symptoms common but not part of DSM-5 criteria (Gkotzia, 2017; Downey, 2012).

  • Motor coordination deficits a "cardinal feature" of ASD (Fournier, 2010)

  • Motor delays on standardized testing

  • Impaired imitation skills, clumsiness; difficulties with motor planning

  • Possible asymmetries in early motor development

  • Decreased postural stability – tendency to rely on reactive rather than more typical anticipatory postural control – in standing, increased sway, abnormal weight distribution and absence of typical ankle strategies – rely more heavily on visual input for balance

• Sensory processing symptoms common but not part of DSM-5 criteria

  • Tomchek et al (2014) examined sensory processing patterns in 400 children with ASD and identified 6 parsimonious factors: (1) low energy/weak, (2) tactile and movement sensitivity, (3) taste/smell sensitivity, (4) auditory and visual sensitivity, (5) sensory seeking/distractibility, and (6) hypo-responsivity.

    • Sensory integration and praxis patterns: relative strengths in visual praxis; difficulties in imitation praxis, vestibular bilateral integration, somatosensory perception and sensory reactivity (Roley, 2015)

    • Hypo or hyper-reactivity to sensory input

III. Prognosis and Sequelae

• Autism is non-progressive and has no known cure

• Twenty-year outcomes for adults with cognitive functioning in near-average and average ranges (Farley, 2009):

  • Rating of "Very Good" or "Good" on global outcome measure for more than half of participants

  • Considerable variability in measured cognitive and adaptive abilities over time (consistent with other studies)

IV. Medical/Surgical Management

• Medications may be used to help manage behaviors that interfere with function (e.g., decrease anxiety, alleviate depression, improve attention, balance energy levels or decrease self-injurious behaviors).

• Nutrition/Diet – a variety of diets have been recommended that provide vitamin/nutritional supplements or restrict certain foods, but scientific evidence does not support any particular diet for individuals with autism (CDC, 2017).

• Obesity is a concern for individuals with ASD and should be managed with appropriate diet and physical activity (Curtin, 2010; Srinivasan, 2014).

• No surgical management applicable to primary symptoms of ASD

V. Key Aspects of Therapeutic Management

• Behavioral and education approaches focus on providing consistent organization, structure and direction, often breaking tasks down into manageable discrete steps. It is important that team members and family members follow basic constructs of these approaches. A valuable resource is an Evidence-Based Practices Comparison Chart developed by the Centers for Medicare and Medicaid Services, the National Autism Center and the National Professional Development Center on ASD available at: https://www.autism-society.org/wp-content/uploads/2014/04/ebp-comparison-chart-o.pdf. Some of the more common programs:

  • Applied Behavior Analysis (ABA): uses positive reinforcement to teach specific tasks/skills; several different defined approaches

  • Developmental, Individual Differences, Relationship-Based Approach (DIR) or "Floortime": focuses on emotional and relational development and how the child deals with sights, sounds, and smells.

  • Treatment and Education of Autistic and related Communication-handicapped Children (TEACCH): uses visual cues to teach skills. For example, picture cards can help teach a child how to get dressed by breaking information down into small steps.

  • Picture Exchange Communication System (PECS): teaches communication skills using picture symbols

• Intervention for motor delays or movement disorders

  • Assessment utilizing standardized instruments

    • A comprehensive resource on assessment tools for evaluation of children with ASD in school-based practice was published as a "Fact Sheet" by the Academy of Pediatric Physical Therapy (2015).

    • Three commonly used tests of motor proficiency (Gkotzia, 2017):

      • Bruininks-Oseretsky Test of Motor Proficiency, 2^nd edition (Bruininks, 2005)

      • Movement Assessment Battery for Children-2 (Henderson, 2007)

      • Test of Gross Motor Development, 2^nd edition (Ulrich, 2000)

    • Utilize general approaches to evaluate and treat gross and fine motor delays or movement disorders; consider likelihood of coordination and balance problems

    • Incorporate instructional strategies that will maximize potential for success (Srinivasan, 2014; Gkotzia, 2017)

    • Support development of structured exercise programs for general health, improved motor performance, weight control, academic engagement, and behavioral management

      • Meta-analysis examined effects of structured exercise programs for children and adults with autism provided in individual and group contexts; combined results provide support for improvements in motor performance and social skills with the largest benefit achieved with individual vs. group intervention (Sowa, 2012).

      • Systematic review of literature by Lang et al (2010) on effects of participation in a physical exercise program for, across the corpus of studies, 64 individuals with ASD (ages 3-41): decreases in stereotypy, aggression, off-task behavior and elopement; and increases in on-task behavior, academic responding, and appropriate motor behavior.

      • Physical activity may help prevent obesity among individuals with ASD (Curtin, 2010; Srinivasan, 2014)

      • Aerobic exercise prior to class may improve academic engagement (Oriel, 2011)

      • Aquatic therapy – water exercise swimming program can improve swimming ability and has potential for improving social skills (Pan, 2010).

    • Toe walking is common in children with ASD; cause unclear; likely at least partially a response to abnormal sensory processing. If toe walking becomes habitual and persistent, it is important not to let the gastro-soleus tendon shorten. Stretching exercises, serial casting and splinting may all be required to prevent or alleviate structural deformity (Barkocy, 2017)

  • Intervention for sensory processing disorder – focus self-regulation (Baranek, 2002)

    • Evaluation: Sensory Profile 2 (Dunn, 2014) based on teacher or caregiver interview; appropriate for infants/children from birth to 14 years 11 months (separate profiles for three different age spans)

    • Sensory integration therapy – "clinic-based interventions that use sensory-rich, child-directed activities to improve a child's adaptive responses to sensory experiences" (Case-Smith, 2015)

      • Moderate evidence to support positive effect on child performance and reduction in behaviors related to sensory problems

    • Sensory-based interventions – "classroom-based interventions that use single-sensory strategies, for example, weighted vests or therapy balls, to influence a child's state or arousal" (Case-Smith, 2015)

      • Weak evidence to support; further research needed

    • Music therapy involving both active, improvisational methods and receptive music therapy approaches; evidence to support improved motivation, communication skills, social interaction and attention (Wigram, 2006).

References

Bell's Palsy

I. Etiology

• Acute idiopathic, acute peripheral-nerve palsy involving the facial nerve (CNVII)

  • Caused by inflammation of CN VII at geniculate ganglion, leading to nerve compression and possible ischemia and demyelination of CN VII (Tiemstra, 2007).

  • Bell's Palsy has a strong association with infectious agents. Infectious agent prompts the initial step of a cascade of facial nerve inflammation, degeneration, and paralysis (Morgan, 1992).

• Results in unilateral facial paralysis or weakening (Gilden, 2008).

• Etiology is unknown

  • Possibly dormant viral infections of Herpes Simplex/Herpes Zoster (Morgan, 1992; Holland, 2004; Stjernquist-Desatnik, 2006).

    • The reactivation of a latent herpes simplex virus is the most likely cause of Bell's palsy, but it often diagnosed by ruling out other diagnoses (Zandian, 2014).

    • Herpes simplex virus (HSV-1) and varicella-zoster virus (VZV) were thought to provoke an autoimmune response leading to demyelination of cranial nerves, particularly the facial nerve. However, the role of HSV-1 and VZV in causing Bell's palsy is now unclear. Researchers are now considering HHV-6 (high levels in the saliva of patients with Bell's palsy) in the pathogenesis of Bell's palsy. (Turriziani, 2014).

  • Rapid onset Bell's palsy can be due to Lyme's disease, autoimmune disease, neoplasms, or can be viral. (Hohman, 2013)

  • Structural lesions of ear or parotid gland, cholesteatoma, salivary tumors, Lyme disease, otitis media, Ramsay Hunt Syndrome, sarcoidosis, and some influenza vaccines may present as isolated facial nerve palsies; Diabetes Mellitus is common and may be contributing factor (Tiemstra, 2007).

  • Peripheral facial palsy can be caused by neoplastic meningitis, with symptoms and MRI findings mimicking those of benign facial palsy (Hiraumi, 2014).

  • May present as one form of a neural manifestation in individuals with Human Immunodeficiency Virus infection (Morgan, 1992; Alakram, 2008).

  • May be related to mumps virus, rubella virus, HIV, and B. burgdorferi (Morgan, 1992)

  • Bilateral facial paralysis is very rare and can occur during pregnancy. Preeclampsia is usually reported in the third trimester and can cause peripheral edema, which can cause compression of the facial nerve, and subsequent paralysis. (Vogell, 2014).

  • Previous use of Statin drugs has been suggested to be associated with the development of Bell's Palsy. (Hung, 2014).

  • Glycated hemoglobin levels (HbAlc) correlate with the severity of Bell's Palsy, although it does not seem to affect prognosis (Riga, 2012).

• Prevalence and Incidence

  • Equal occurrence in either gender and at any age but most common between ages 15-45 with peak incidence in 40's (Holland, 2004; Gilden, 2004).

  • Incidence of 20-30 cases per 100,000 people per year (Holland, 2004; Gilden, 2004). 1 in 5000 people worldwide (Alakram, 2008)

  • Patients with DM and pregnancy have increased incidence (Cohen, 2000).

  • While seasonal and monthly distributions of Bell's palsy do not differ significantly, it has been suggested that stronger wind speeds on the preceding day may be related to the occurrence of Bell's palsy (Jeon, 2013).

II. Diagnostics

Symptoms and Signs:

• Acute unilateral facial paralysis/weakness with onset of 1-3 day resulting in incomplete eyelid closure with dry eye, facial drooping, diminished tearing, drooling, and thicker saliva (Holland, 2004; Tiemstra, 2007).

• Postauricular pain, dry eye, dysgeusia (disordered taste), dry mouth, facial pain, hyperlacrimation, aural fullness, and hyperacusis (on the affected side) are some of the symptoms that can precede and accompany facial paresis. (De Sata, 2014)

  • Mild pain around the jaw and behind the ear (generally preceding palsy) (Holland, 2004).

• Unable to smile, fill cheeks with air, or wrinkle forehead on affected side.

• Hyperacusis (hypersensitivity to sound) and/or altered taste (Holland, 2004).

• Bell's Phenomenon (upward diversion of eye with attempted eyelid closure) (Holland, 2004, Tiemstra, 2007).

• A high Neutrophil-to-Lymphocyte ratio (NLR) was shown to be a reliable predictor of Bell's palsy (Bucak, 2014).

• Red flag symptoms that indicate other diagnoses include diplopia, dysphagia, numbness of the face, or dizziness (Phan, 2016).

Diagnostic Testing:

• Clinical diagnosis of exclusion (Gilden, 2008; Hohman, 2013). The objective of the history and examination is to rule out an infectious, neurologic, otologic, or neoplastic cause (Phan, 2016).

• History of onset, progression, and detailed PMH (Tiemstra, 2007).

• The first step in the diagnosis is to determine whether facial weakness has a central or peripheral etiology. (Murthy, 2011)

• Currently the trigeminal blink reflex is the only test to measure intracranial pathway of the facial nerve and also useful test to study various postparalysis sequelae such as synkinesis and hemifacial spasms. (Murthy, 2011)

• Physical examination and inspection of the ear canal, tympanic membrane, and oropharynx (Tiemstra, 2007).

• Peripheral nerve testing of extremities, evaluation of cranial nerves and facial muscles (Tiemstra, 2007).

• Imaging:

  • CT, MRI (indicated for insidious onset, central weakness, trauma) (Tiemstra 2007, Gilden 2004).

• Laboratory tests:

  • diabetes, bacterial/viral infections (Tiemstra, 2007).

• Electrodiagnostic Test:

  • Used to determine if lesion is demyelinated or axonal degeneration.

• House-Brackmann Facial Nerve Grading Scale Facial Disability Inventory (Alakram, 2008)

  • "Has poor evaluation quality for measuring severe facial nerve palsy, and is suitable for patients with mild facial nerve injury. There are six classifications for grading facial nerve injury: normal, mild, moderate, moderate-severe, severe dysfunction, and complete paralysis" (Huang, 2014).

• Electrical response grading is a newer method for assessing the degree of facial nerve injury that is superior to the House-Brackmann scale for measuring the degree of facial nerve palsy and is superior in efficacy and reliability. "The electrical response grading system is divided into 4 grades based on a muscle-specific response to electroacupuncture. The grades and output intensities include: excellent (4 mA with facial muscle twitching and motion of facial muscle reaches or exceeds normal motion), moderate (4-6 mA with muscle twitching and slight muscle contraction, but does not reach normal range of motion), poor (>6 mA with slight twitch, and no contraction), and no response (>6 mA with no muscle activity)" (Huang, 2014).

• A complete blood count with high Neutrophil to Lymphocyte Ratio (NLR) is supported as a good indicator of Bell's Palsy in pediatrics; However, this value cannot determine the severity of the disease. (Eryilmaz, 2015).

Differential Diagnosis: (Tiemstra,2007)

• Nuclear (peripheral)

  • Lyme disease: Tick exposure, rash, arthralgias, exposure to endemic Lyme disease

  • Otitis media: Bacterial pathogens, gradual onset; ear pain, fever, conductive hearing loss

  • Ramsay Hunt syndrome: Herpes zoster, pronounced pain; vesicular eruption in ear canal or pharynx

  • Sarcoidosis or Guillain-Barré syndrome: Autoimmune response, more often bilateral

  • Tumor: Cholesteatoma or parotid gland, gradual onset

• Supranuclear (central) forehead motor function less affected because of bilateral cortical control of forehead muscles

  • Multiple sclerosis: Demyelination, neurological symptoms

  • Stroke, Ischemic or hemorrhagic:, extremities on affected side are often involved, while the frontalis muscle on the affected side is not involved (Mooney, 2013). Stroke often includes changes in level of consciousness, dizziness, loss of coordination, or changes in vision. (Mayhew, 2015).

  • Tumor: Metastases or primary brain, gradual onset; mental status changes; history of cancer

• People are often misdiagnosed with Bell's palsy, versus actual diagnosis of stroke, herpes zoster, Guillain-Barre and otitis media. Emergency rooms have a very low rate of misdiagnosis. This low rate is, in part, due to CT and MRI use. "Increasing age and diabetes are modest risk factors for misdiagnosis" (Fahimi, 2014).

• If facial nerve palsy continues without improvement over 3 months, it is recommended the patient have a high-resolution MRI, perilesional biopsies, or direct nerve biopsy to determine the correct diagnosis and rule out microcystic adnexal carcinoma-like squamous cell carcinoma or other neoplastic etiology (Mueller, 2017).

III. Prognosis

• Non-Progressive and Self-Limiting

  • Spontaneous recovery in 85% of patients within 3 weeks; most recover completely in 3 months (Tiemstra, 2007).

  • Small population of patients may never completely recover. Paralysis considered permanent after 6 months (Holland, 2004).

  • For complete involvement: 75% recover motor function (Holland, 2004).

• Age and degree of facial paralysis are prognostic factors, with recovery of symptoms in 21 days predicting a favorable prognosis (Zandian, 2014).

• Severity of paralysis, partial or complete, may be predictive:

  • 94% of patients who show incomplete paralysis of the face will restore normal function without treatment, and only 30% of patients with complete paralysis will show no recovery. However, at the end of 1 month if paralysis is still complete, chance of recovery is 10-40%, and after 2 months, the predicted chance of full recovery falls to 0%. (Li Y, 2015).

• Poor outcomes are associated with:

  • Age >60, systemic comorbidities, and a lesion with autonomic involvement (Cedarwall, 2006).

  • Decreased blink reflex and electroneurography are the best predictors of residual palsy and no facial function recovery. These tests, along with clinical findings, can be used as assessment tools in the early post-palsy period (Mancini, 2014).

  • A high Neutrophil-to-Lymphocyte ratio (NLR) is associated with nonsatisfactory recovery in patients with Bell's palsy (Bucak, 2014).

  • Bilateral paralysis has a poor prognosis, with increased risk of permanent damage, and may be the first sign of preeclampsia in pregnant women (Vogell, 2014).

  • Dry mouth at onset was correlated with severe grade palsy and poor prognosis (De Sata, 2014).

• Crocodile tears (facial mm contract resulting in tear formation) can occur during recovery for up to 1 year

• If untreated, the prognosis of pregnancy related Bell's Palsy may have a better prognosis than for patients with non-pregnancy related palsy (Sax, 2006).

• The Yanagihara system can be used to diagnose the severity of Bell's palsy. Using this system to diagnose patients can lead to prompt treatment and a better overall prognosis (Hato, 2014).

  • The Y-system scoring system is a tool that can be used to predict non-recovery in patients with Bell's palsy. The Y-score at week 1 can predict non-recovery at 6 months and can be used to determine which patients should be treated with antiviral therapy (Fujiwara, 2014).

• "Electroneugrophy and House Brackmann grading during the first to fourth weeks of Bell's Palsy are useful prognostic indicators.

  • Serial electroneurography (ENoG) examinations are recommended to predict the status of neural degeneration and the prognosis of the palsy" It is best to use ENoG in early periods of paralysis in order to determine the most accurate state of the paralysis, maximum denervation, and any residual nerve function. "The correlation between facial function and ENoG value begins to decrease in late periods of paralysis" (Arslan, 2014).

IV. Medical/Surgical Management

Pharmacologic Options:

• Bell's palsy is the leading cause of facial nerve palsy, with corticosteroids being the drug of choice when medical therapy is needed (Zandian, 2014).

  • Combined use of Prednisone and Acyclovir very effective if given within 72 hours of onset (Holland, 2004; Sullivan 2007; Gilden 2008).

  • High-dose corticosteroids for 10 days; prevents permanent damage, begin right away

  • Corticosteroids show clinical and statistical significant recovery of motor function of facial nerve (Ramsey, 2000).

  • Steroids are likely to be effective and should be offered to increase the probability of recovery of facial nerve function (Gronseth, 2012), and reduce the duration of symptoms (Albers, 2014)

  • Corticosteroids are the drug of choice for treating Bell's palsy. However, this drug class can be problematic for those patients with diabetes mellitus. Stellate ganglion blocks have been a successful method for treating patients who have diabetes mellitus and Bell's palsy (Liu, 2014).

• The clinical guideline for Bell's Palsy by the American Academy of Otolaryngology– Head and Neck Surgery recommends a 10-day regimen of oral steroids with at least 5 days at a high dose. Two options are given: 1) 10 days of Prednisolone at 50 mg or 2) 5 days of Prednisone at 60 mg with a following 5-day taper. This is best done within 72 hours of onset (Baugh, 2013).

• Antibiotics/anti-virals fight bacteria/viruses, analgesics for pain

  • Regardless of the initial symptoms, antiviral agents did not increase the number of patients who achieved complete recovery (Turgeon, 2014).

• Steroids and antiviral agents have been used to treat Bell's palsy. A combination of the two has shown higher recovery rates in those with initially severe Bell's palsy and those who do not have diabetes mellitus or hypertension (Kang, 2014), and is more effective than steroids alone (Lee, 2013).

  • In one systematic review, moderate quality evidence supported no significant difference between the use of corticosteroid with antivirals and corticosteroids only, or corticosteroids and a placebo, or the use of only antivirals compared to placebo in treating Bell's Palsy. (Gagyor, 2015).

• Studies in children do not support the use of steroids or antivirals (Sanders, 2004).

• "Intratympanic steroid injection might be a safe and useful adjuvant treatment modality for Bell's palsy" (Chung, 2014).

Surgical Options:

• Decompression surgery of facial nerve has high risk of complications and is generally not recommended (Holland 2004; Tiemstra, 2007) Permanent cases of facial symmetry and muscle contracture may require cosmetic surgery (Tiemstra, 2007)

  • Some surgeons agree that surgical decompression of the facial nerve will help to release the entrapment of the nerve through the facial canal. This surgery should occur early after the onset of full paralysis (2-3 weeks) in the patients who have poor prognosis for full recovery. If the surgery occurs more than 2 months after onset of full paralysis, it is possible that frequency of adverse effects matches the benefits. Therefore, decompression surgery after two months of onset would not benefit the patient. (Li , 2015).

  • In one study: only half of otologist and neurologist think surgery decompression should be the standard for patients with an electroneuronography < 10% normal (Smouha, 2010).

• Plastic surgery using facial slings may be used to replace active muscle contraction

• To protect cornea, wear eye patch or glasses, use of artificial tears, and heat or massage can be used

  • Tiny gold weights may be implanted to help close lid when muscles relax (Tiemstra, 2007; Shafshak, 2006)

• Botox injections have been shown to improve facial symmetry at rest and during movement, by reducing facial synkinesis (Toffola, 2010).

V. Implications for Therapeutic Management

• Practice pattern (APTA, 2017)

  • 5D: Impaired Motor Function and Sensory Integrity Associated With Nonprogressive Disorders of the Central Nervous System-Acquired in Adolescence or Adulthood; 10-60 visits per episode of care

  • 4E: Impaired joint mobility, motor function, muscle performance, and range of motion associated with localized inflammation

  • 5F: impaired peripheral nerve integrity and muscle performance associated with peripheral nerve injury

• Physical Therapy

  • No evidence of significant benefit or harm from any physical therapy for idiopathic facial paralysis. (Teixeira, 2008; 2011)

  • For patients with idiopathic facial palsy who remain symptomatic for over a year, facial physiotherapy assists in improving facial grading scores. (Watson, 2015)

  • Physical therapy has only been shown to be effective in those with severe Bell's palsy, while those with less severe palsy usually recover on their own (Nicastri, 2014).

  • Physical therapies, such as exercise, biofeedback, laser, electrotherapy, massage and thermotherapy are used to hasten recovery. However, evidence supporting the effectiveness of the previously mentioned therapies is lacking (Murthy, 2011)

  • There is low quality evidence that tailored facial exercises can help to improve facial function, mainly for people with moderate paralysis and chronic cases. (Teixeira, 2011)

  • There is low quality evidence that facial exercise reduces sequelae in acute cases. (Teixeira, 2011)

• A significant and long lasting effect of facial function can be achieved through using education, neuromuscular training, massage, meditation-relaxation, and an individualized home program. (Lindsay, 2009)

  • Individualized facial neuromuscular re-education is more effective in improving facial symmetry in patients with Bell's palsy than conventional therapeutic measures (including electrical stimulation). (Manikandan, 2007)

  • To promote facial muscle control and function HEP should consist of a twice a day exercise program emphasizing facial movement

• Local superficial moist heat for pain, tissue extensibility, circulation (Shafshak, 2006); ultrasound (Shafshak, 2006).

• Mime therapy and facial exercises with biofeedback (mirror or EMG) to promote muscle reeducation (Shafshak,2006; Beurskens, 2003)

  • EMG biofeedback is an exercise therapy tool that can be used for treating involuntary facial movements associated with Bell's palsy (Pourmomeny, 2014).

• If the patient cannot fully close the affected eye, the physical therapist should implement eye protection and educate the patient (Baugh, 2013).

• Electrical Stimulation

  • Electrical stimulation in patients with Bell's palsy is safe but may not be any better than spontaneous recovery (Alakram, 2010)

  • The use of electrical stimulation, shortly after palsy onset (4 weeks), has been shown to be beneficial when performed three times a week. Using this modality has improved functional facial movements and electrophysiologic outcome measures in patients with Bell's palsy (Tuncay, 2014).

  • Some research indicates that E-stim causes damage and delayed healing while other research suggests a positive effect in preventing muscle atrophy and encouraging neuromuscular reeducation (Shafshak, 2006)

  • Electrical stimulation to the facial muscles during the early phase of Bell's palsy was no more effective than a control group who did not receive electrical stimulation. (Alakram, 2010)

• High intensity laser therapy and low level laser therapy can both be used to treat patients with Bell's palsy, with high intensity showing greater improvements (Alayat, 2014).

• Gentle massage—circulation, prevention of contractures (Shafshak, 2006)

• Acupuncture is superior to massage and methylcobalamin, but the benefits of acupuncture have not been fully determined. (Wang, 2012)

VI. Consumer and Professional Resources

• National Institute of Health

  • http://rarediseases.info.nih.gov/GARD/Condition/5906/Bells_palsy.aspx

• Bell's palsy Information Site

  • http://www.bellspalsy.ws/

• Bell's palsy Support Group

  • http://www.mdjunction.com/bells-palsy

• Bell's palsy Support Group

  • http://www.imedix.com/bell%27s_palsy

• Bell's Palsy Information Site

  • https://aanem.org/Education/Patient-Resources/Disorders/Bell-s-Palsy.aspx

• National Institute of Neurological Disorders and Stroke

  • http://www.ninds.nih.gov/disorders/bells/bells.htm

• Facial Paralysis Institute

  • http://www.facialparalysisinstitute.com/

References

Benign Paroxysmal Positional Vertigo (BPPV)

I. Etiology:

• The most common peripheral vestibular pathology, representing ~ 50% of all cases of vertigo

• Otoconia in the utricle are dislodged, fragment, and migrate into semi-circular canal(s). Calcium carbonate particles free-float in endolymph (canalithiasis) or adhere to cupula (cupulolithiasis), causing disruption of endolymph flow and cupular deflection (Furman, 1999; Strupp, 2013) Creates abnormal action potentials and confusing vestibular signals (Furman, 1999; Strupp, 2013). Results in episodes of vertigo characterized by brief spinning sensations, often triggered by specific changes in head position (Oh, 2014; Kim, 2014)

  • Canalithiasis of the posterior semicircular is the most frequent cause of BPPV (Lee, 2010)

  • Posterior semicircular canal (the most gravity-dependent canal) BPPV is most common (60-90% of cases), while lateral or horizontal (10-30% of cases) and anterior canal (3% of cases) are less common (Baloh, 1993; von Brevern, 2013; Anagnostou, 2015)

  • The right ear is affected more often than the left, often due to sleeping position of individuals (De Sousa Oliveira, 2013; Babac, 2014)

• Incidence

  • Approximately 1/10,000 people (Mizukoshi, 1988), increases with age; mean age of onset at 54 y.o. (von Brevern, 2007; Bhattacharyya, 2008)

  • BPPV occurs more often in females, with a 2:1-3:1 ratio of female to males, possibly suggesting that hormones may play a role (Pisani, 2015; Ogun 2014)

    • Hormonal factors could play a role in the development in BPPV. There is a significant association between osteopenia/osteoporosis and idiopathic BPPV, hence the high prevalence in middle –aged women (Lee 2010).

  • BPPV can occur at any age, but occurrence does increase with age (Strupp, 2013; von Brevern, 2007; Baloh, 1987)

• Actual cause of BPPV unknown.

  • 50% to 70% of BPPV cases are idiopathic (Baloh, 1987)

• Risk factors:

  • Head injury, ear injury, ear infection, ear surgery, degeneration of inner ear structures, vestibular neuritis, Meniere's disease, nasal allergies, menopause, decreased Vitamin D intake, low bone mineral density, and any jolt or strenuous action that could cause the otoconia to break free (Mandala, 2012; Strupp, 2013; Talaat, 2014; Ogun, 2014).

  • BPPV following both major and minor head trauma is most often bilateral, involves multiple canals, and in younger individuals (Pisani 2015)

  • Post traumatic BPPV accounts for about 15%-20% of cases (Pisani, 2015)

  • BPPV has also been found in individuals after long term bed rest (Strupp, 2013)

  • Can be a complication following closed sinus lift procedure using a mallet, as opposed to a screwable (Sammartino, 2011)

  • There is a possible link between patients with migraines developing BPPV. Patients with migraine have a 2.03 fold greater risk of developing BPPV compared to the age- and sex- matched control cohort. The relationship can partially be explained due to the vasospasm and downstream of vascular events that take place intracranially and in the inner ear during a migraine (Chu, 2015).

II. Diagnostics:

• Signs/Symptoms:

  • Occur with head movements specific to each patient and observed with provocative testing: vertigo, lightheadedness, disequilibrium, dizziness, nausea/vomiting, difficulty concentrating, blurred vision, and nystagmus (Furman, 1999; Mayo Clinic Staff, 2010; Parnes, 2003)

• Patients who report vertigo provoked by head movements should first undergo Hallpike-Dix maneuver (Kim, 2014)

• Radiographic imaging not recommended unless signs unrelated to BPPV are present (Bhattacharyya, 2008)

• Use of an anamnesis questionnaire based on the presence/absence of six typical features of BPPV could reduce the risk of a misdiagnosis of BPPV (Lapenna, 2015).

• Provocative tests

  • Positional tests: place migrated otoconia in a gravity-dependent position and provoke symptoms

    • Hallpike-Dix test: tests for anterior or posterior semi-circular canal BPPV

      • Vertical and torsional nystagmus occurs with anterior/posterior canal involvement. The posterior canal most commonly affected (Korres, 2002; Huebner, 2013)

      • Upbeating torsional nystagmus towards uppermost ear = PSCC involvement; downbeating torsional nystagmus towards downside ear = ASCC involvement

    • Side-lying test: tests for posterior canal involvement

      • Used less often than the Hallpike-Dix test, but has been found to be equally valid and can be used if the patient does not tolerate the Hallpike-Dix maneuver (Helminski, 2014; Hilton, 2014)

    • Roll test (aka Paganini-McLure maneuver): tests for horizontal semi-circular canal (HC) BPPV (Parnes, 2003; Vannucchi, 1997; Kinne, 2012)

      • Horizontal nystagmus: Geotrophic nystagmus- beating towards ground; if <60s indicates HC canalithiasis. Ageotrophic nystagmus- beating away from ground; if >60s indicates HC cupulolithiasis

  • Vestibular Evoked Myogenic Potentials (VEMP)

    • Help define the extent of saccular damage and the prognosis of patients with BPPV (Longo, 2012)

  • Observation of patient's eye movements enhanced by:

    • Frenzel lenses: goggles magnify eye for observer, eliminates patient's ability to fixate eyes on stable target

    • Infrared goggle system (video nystagmography): blocks visual fixation, infrared light illuminates the eye for videography but without fixation since using non-visual spectrum (an additional visible light can be activated in the goggle to test with visual fixation), includes capability for video and replay on a large video monition and with slow motion replay.

  • Positive test if nystagmus observed, nausea experienced, and vertigo/dizziness occurs (Norre, 1995)

    • Nystagmus in 30 seconds of provocative positioning

    • Direction of nystagmus indicates the canal(s) affected. The nystagmus is named according to the direction of the fast component of nystagmus. So right-beating nystagmus indicates that the right side is affected. However the direction of the nystagmus does not predict the likelihood of lateralization of those with horizontal BPPV (Oh, 2014).

    • Duration of nystagmus indicates type of BPPV: Cupulolithiasis with nystagmus lasting >60s,canalithiasis with nystagmus lasting < 60s

    • Diagnosed into subgroups (posterior, horizontal or lateral, and anterior) also based on characteristics of nystagmus (torsional, vertical, horizontal, latency, crescendo, decrescendo, transience, reversibility, and fatiguability). (Korres, 2004; Balatsourus, 2012)

III. Prognosis:

• Non-progressive, usually self-limiting

  • Presents weeks or years with unpredictable remissions/recurrences

  • Patients avoid head movements that provoke symptoms (Furman, 1999)

  • Intractable BPPV persists despite conservative treatment

  • Patients with BPPV exhibit a significantly higher risk for fractures than those without BPPV secondary to falls and high ratio of osteoporosis (Wen-Ling, 2015)

  • Factors that suggest a poorer prognosis:

    • Older age, history of head trauma, long duration of symptoms, osteoporosis, and anterior canal involvement (Babac, 2014)

• Patient prognosis improved with proper therapeutic/surgical management

  • BPPV is the most successfully treatable cause of vertigo (Von Brevern, 2007).

  • Treatment designed for cupulolithiasis: 70% remission of vertigo and nystagmus; another 20% had improvement of symptoms (Herdman, 1993)

  • Treatment designed for canalithiasis: 57% remission of vertigo and nystagmus; another 33% improvement of symptoms (Herdman, 1993)

  • 97% of patients have resolution within three treatments of CRPs and less than 16% reoccurrence. (Balatsouras, 2012)

  • 50-80% of patients have complete resolution with one session of either Epley's or Semont's maneuver (Herdman, 1993; Serfini, 1996). However, patient must be informed that BPPV may recur and require treatment (Kim, 2014)

  • For patients with posterior canal BPPV, the repeated Epley maneuver is effective in 95% of cases (Strupp, 2013)

  • With no intervention, BPPV has a high natural recovery rate of 60% (Strupp, 2013)

  • With multiple canal involvement, BPPV often takes more treatment sessions over a longer time for effective treatment (Shim, 2014; Pisani, 2015).

  • Positional restrictions are often given to decrease the rate of recurrence, however patients often fail to heed the sleeping restrictions, which leads to increased recurrence of their symptoms (Li, 2013).

  • Potential complications/negative side effects: few were reported during treatment, however nausea, imbalance, neck/back injury or debris moving into another canal can occur (De Sousa Oliveira, 2013; Hilton, 2014)

  • BPPV that is brought on by trauma seems to be more difficult to treat than idiopathic BPPV (Pisani, 2015).

IV. Medical/Surgical Management:

• Drug therapy: no drugs are recommended for long-term use due to high risk of vestibular damage. Drugs are used with caution to relieve symptoms of acute attacks (Hain, 2003)

  • Vestibular suppressants decrease symptom intensity but not attack frequency. They can be given following provocative testing to reduce symptoms: antihistamines (Antivert), anticholinergics (Scopolamine), benzodiazepines (Diazepam) (Strupp, 2013), and phenothiazines (Promethazine)

  • Vestibular suppressants (dimenhydrinate) treatment after canalith repositioning procedures may help reduce residual symptoms in patients who have BPPV (Kim 2014).

• Surgical Management- reserved for the intractable cases of BPPV due to complications and decreased vestibular functioning

  • Singular Neurectomy: Sectioning posterior ampullary nerve, eliminating neural input from canal; effective, but high risk hearing loss (Gacek, 2005)

  • Transmastoid posterior semi-circular canal occlusion: bony plug placed in PSCC, preventing endolymph flow from stimulating the cupula. Effective, with less risk of hearing loss (Agrawal, 2005; Parnes, 1990; Beyea, 2012; Ahmed, 2012)

  • CO2 laser-assisted posterior semicircular canal ablation (LAPSCCA): bony plug placed in both ends of the PSCC, the CO2 laser is then used to completely section the labyrinth.

    • Excellent option for intractable BPPV (Knox, 2010)

V. Implications for Therapeutic Management:

• Preferred practice patterns (Smith, 2009; APTA, 2017)

  • 5A: primary prevention/risk reduction for loss of balance and falling

  • 5D: impaired motor function and sensory integrity associated with non-progressive disorders of the central nervous system – acquired in adolescence or adulthood

  • 5E: impaired motor function and sensory integrity associated with progressive disorders of the central nervous system

  • 5F: impaired peripheral nerve integrity and muscle performance associated with peripheral nerve injury

• Approaches to treatment:

  • BPPV has the most successful treatment regimen of all vestibular pathologies (Pisani, 2015)

  • Patient education concerning the mechanics/ characteristics of BPPV (Asawavichianginda, 2000; Smith, 2009)

    • Injury prevention/risk reduction training to identify/avoid provocative movements

    • Discuss appropriate use of assisted devices

    • Fracture prevention

    • Fall prevention

  • Canalith repositioning procedures to reposition particles in utricle (Asawavichianginda 2000; Smith, 2009; Huebner, 2013)

    • Canalith Repositioning or Liberator Maneuver: Posterior or Anterior Canal Canalithiasis

      • Epley's or Semont's is effective in treating posterior canal BPPV (Mandala, 2011; Hilton, 2014; Liu, 2015)

        • Epley's maneuver was found to be more effective than Semont's maneuver in improving the quality of life of those with posterior canal BPPV (Durga, 2014).

      • Particle repositioning maneuver/ Epley maneuver has been found to be more effective treating BPPV than Brandt-Daroff exercises (Amor-Dorado, 2012; Hilton 2014)

      • Canalith repositioning maneuvers may be performed multiple times per treatment session, in order to ensure that the treatment session will be the most effective for the patient (Helminski, 2014; De Sousa Oliveira, 2013)

      • Retest after treatment in order to determine if more treatment should be done in the session in order to help prevent recurrence (De Sousa Oliveira, 2013)

      • The Gans maneuver may be a more appropriate treatment for its technical performance and having fewer complications (Saberi, 2016).

        • Epley had overall higher success rate in 1 day, but after one week, the results obtained in Gans and Epley maneuvers were equal with a lower recurrence rate in patients treated with Gans maneuver (Saberi, 2016)

    • Canalith Repositioning Treatment: Horizontal Canal Canalithiasis

      • Appiani Procedure (Appiani, 2001)

        • Pt. sits on side of table and quickly moved onto unaffected side and remain here 1 minute after nystagmus stops

        • Pt. head quickly turned 45 degrees downward and this position is held for 2 minutes

        • Pt. slowly returns to the sitting position

        • Appiani procedure led to complete remission of the horizontal canal canalithiasis in all 32 pts after the first session (Appiani, 2001)

      • Gufoni's maneuver is an effective treatment for lateral or horizontal canal BPPV (Francesco, 2009; Strupp, 2013; Madala, 2013; van den Broek, 2014).

    • Horizontal Canal Cupulolithiasis

      • Casani Procedure

        • Pt. brought quickly onto the affected side with a neutral C-spine

        • Immediately turn head down to mat and then wait 2-3 minutes

        • The positive side has the least significant nystagmus and is typically the asymptomatic side

    • Multiple Canal Treatment

      • Treatment order was previously suggested to first treat the canal causing the most intense symptoms, however recent studies have shown that regardless of which canal is treated first, treating multiple canals will take more sessions but will be successful (Shim, 2014).

      • Often the Epley maneuver is seen to be the most successful for those with posterior and horizontal canal involvement (Shim, 2014)

  • Posterior Canal cases may require more physical repositioning maneuvers before obtaining success while Horizontal canal cases may recover with fewer maneuvers (Pisani, 2015).

  • Evaluation should include balance/fall risk (Bhattacharyya, 2008).

  • Balance Vestibular Rehabilitation Therapy (VRT), when used in tandem with Canalith Repositioning Maneuvers, increases dynamic balance in chronic BPPV patients (Ribiero, 2016)

  • Patient may be able to self-treat by performing the canalith repositioning procedure (CRP) using gravity to move and reposition the calcium carbonate particles (Helminski, 2010)

    • A new iPhone software program, DizzyFIX, has been developed that helps individuals independently perform the Epley maneuver more accurately in their home program (Organ, 2015)

  • Home Habituation exercises used if repositioning procedures ineffective

  • Referral to other health professionals

VI. Consumer and Professional Resources

• American Physical Therapy Association, Section on Neurology

  • http://www.neuropt.org/docs/vsig-english-pt-fact-sheets/bppv-why-me.pdf?sfvrsn=2

• Vestibular Disorders Association

  • http://www.vestibular.org/

• Mayo Clinic

  • http://www.mayoclinic.com/health/vertigo/DS00534

• Johns Hopkins Medicine

  • http://www.hopkinsmedicine.org/neurology_neurosurgery/specialty_areas/vestib ular/conditions/benign_paroxysmal_positional_vertigo.html

• National Institute on Deafness and Other Communication Disorders

  • http://www.nidcd.nih.gov/Pages/default.aspx

• American Hearing Research Foundation

  • http://american-hearing.org

References

Brachial Plexus Injury (Neonatal Brachial Plexus Palsy)

I. Etiology

• Brachial plexus injury (BPI) in both adults and children is often caused by extreme lateral traction applied to the head and neck with depression or hyperextension of the shoulder (Eser, 2009; Hudic, 2006; Wellington, 2009).

• Adult BPI

  • Common mechanism of injury: motor vehicle accident, industrial accidents, falls, lacerations, sports related, gunshot, and iatrogenic factors, including tumors/masses and radiotherapy (Eser, 2009; Wellington 2009). BPI is often caused by fracture and/or dislocation (Eser, 2009).

• Neonatal brachial plexus palsy (NBPP)

  • Etiology involves stretching of the brachial plexus during delivery with multiple risk factors (Benjamin, 2005; Heise 2015).

  • Risk Factors/Possible Causes:

    • Maternal: uterine abnormalities, diabetes, stature, obesity or excessive weight gain during pregnancy, age > 35 years, primiparity, pelvic anatomy, uterine anomalies, previous child with NBPP (Benjamin, 2005; Doumouchtsis, 2009; Kay, 1998)

    • Infant: large birth weight (over 4000 grams) most important fetal factor, gestational age (Hudic, 2006; Kay, 1998; Heise 2015)

    • Delivery: shoulder dystocia observed in at least half of the cases (Heise, 2015); breech delivery, prolonged labor, vacuum-assisted labor, induction of labor, propulsive forces of labor (Doumouchtsis, 2009; Hudic, 2006; Kay, 1998; Mackinnon, 2004)

    • Other: atraumatically in-utero, intrauterine maladaptation, failure of the shoulder to rotate (Doumouchtsis, 2009)

    • Although risk factors are known, it is difficult to predict NBPP, which can also occur in the absence of any risk factors. However, the presence of multiple risk factors does increase risk, particularly maternal diabetes and macrosomia (Doumouchtsis, 2009)

    • Injury is typically unilateral, may be to the roots or trunk of the brachial plexus, and is classically described as being a neurapraxia, axonotmesis, neurotmesis, or avulsion (Malessy, 2009; Waters, 2005).

• Brachial plexus injury most commonly occurs in the anterior shoulder and is attributed to a stretch injury with tearing of the cervical nerves or avulsion of the nerve roots from the spinal cord (Hankins, 1995)

  • Avulsions will not recover motor function spontaneously (Jellicoe, 2008)

  • Mechanically, lesions can be described as a stretch, varying degrees of rupture, and avulsion (Waters, 2005). In many BPIs, the damaged and stretched nerve forms a neuroma, which can block growth and impede axonal continuity (Malessy, 2009).

II. Diagnostics

Symptoms

• Varying degrees of weakness or paralysis and numbness depending on severity and location of the injury.

Signs

• Signs of NBPP are usually present immediately after birth, though a more precise diagnosis can be made after 48 hours (Gilbert, 1995).

• If untreated, the internal rotators and adductors will eventually lead to posterior subluxation and progress to dislocation of the glenohumeral joint (Jellicoe, 2008).

• Physical Examination

  • The reference standard for evaluating severity in NBPP is the clinical examination repeated over several months (Curtis, 2002).

  • Observation of the child's spontaneous use of the affected upper extremity during activities (Frykman, 1976).

  • Observation of posture, preferred pattern of prehension, muscle atrophy, sudomotor function (Ho, 2015)

  • Provocative tests: Tinel's sign (Ho, 2015); scarf sign

  • Strength: Manual muscle testing (Ho, 2015), Modified Mallet Shoulder Scale (Abzug, 2014), Pinch/grip dynamometery (Ho, 2015)

  • Sensory testing: Weinstein Enhanced Sensory Test (WEST)

  • Tactile gnosis: Two-point discrimination (2PD) (Bell, 1993); shape/texture identification (STI-test) (Rosen, 2000)

  • Froment's test if suspected or known ulnar nerve injury (McRae, 1990)

Diagnostic Testing

• Diagnosis begins with observation and is characterized by asymmetrical or lack of active movement in an upper extremity although passive movement is equal on both sides.

• Imaging:

  • Three-dimensional proton density MRI: Does not require radiation, contrast agents or sedation to evaluate the spinal nerve root leading to earlier detection of injury severity (Bauer, 2017).

  • CT: myelographies show nerve root avulsions, such as those occurring with OBPI more clearly (Dunham, 2003).

  • Electrodiagnostic testing (EDX) is a noninvasive method commonly used to assess lesion site, type of lesion, and extent of neural dysfunction (Spires, 2017)

  • Imaging studies should be used in adjunct with physical examination and may be used to guide preoperative planning (Waters, 2005). Imaging is also used to assess the shoulder joint to see if there is any secondary deformity (Waters, 2005).

• Classification of perinatal brachial plexus injuries (Al-Qattan, 2009; Hearse, 2015):

  • Grade 1: Upper brachial plexus injury or Erb's Palsy (C5-6, sometimes C7): the shoulder is internally rotated and adducted, elbow extended, forearm pronated, and hand and wrist flexed (waiter's tip positioning) (Jellicoe, 2008). This is the most common form with the best prognosis (Huffman, 2005); 70-80% of cases resolve within one year (Doumouchtsis, 2009).

  • Grade II: Extended Erb's Palsy involving upper and middle trunks (C5-C7): seen in about one third of cases; involves motor deficits seen with Erb's palsy, plus impaired elbow and wrist extension and weak finger flexion (Hearse, 2015).

  • Grade III: Global Palsy (C5-C8, T1): Complete flaccid paralysis of the arm, the hand is clawed, and no movement or sensation is present in the entire arm. This is the most devastating type of OBPI and has the worst prognosis of the three types (Jellicoe, 2008; Kay, 1998). The infant may ignore the arm (Jellicoe, 2008). 30-50% experience spontaneous recovery of the shoulder and elbow but have residual hand deficits.

  • Grade IV: Global Palsy with Horner's syndrome (C5-C8, T1): Complete flaccid paralysis of the arm with Horner syndrome. Severe arm deficits without surgical intervention (Al-Qattan; et al, 2009).

  • Lower brachial plexus injury or Klumpkes paralysis (C7/8-T1): Resting position of forearm is supination, paralysis of wrist flexor and extensors and intrinsic muscles of hand (claw hand). This type is very rare (Dodds, 2000; Jellicoe, 2008). Usually persists (Doumouchtsis, 2009).

• In NBPP: the right side is effected in two thirds of the cases because of the most common fetal presentation (Heise, 2015).

III. Prognosis & Sequelae

Trends of Progression

• Non-progressive; 12 -25% will experience permanent impairment and injury (Andersen, 2006).

• Prognosis depends on the severity of the lesion (stretch, rupture, or avulsion), extent of the injury (upper, middle, lower plexus), associated fractures, associated Horner's sign, phrenic nerve involvement and if the lesion is pre- or postganglionic (Jellicoe, 2008; Waters 2005). Upper root lesions generally have a better prognosis (Jackson, 1988).

• Recovery begins first in the hand, often within 8-12 weeks. Prognosis is good if any signs of recovery occur during the first month, while no recovery of function by 3 months indicates a poorer prognosis. This is considered by some to be an indication for surgery (Grossman, 2000).

Expected Sequelae

• Birthweight over 4 kg and younger maternal age are predictors of disability lasting >1 year (Zuarez-Easton, 2017)

• Sequelae deformities may result from an NBPP that does not recover. The most common deformities are humeral dislocation, pronation/supination contractures at the forearm, radial head dislocation, scapular winging, and hypoplasia of bones in the affected extremity (Plexus, 2007).

• Early intervention and referral remains the best plan for a good functional outcome (Dunham, 2003).

• Outcome measures:

  • Mallet Classification (MC): used to assess active UE motion and characterize shoulder function in infants and children; tests 5 movements (abduction, external rotation, hand behind head, hand to back, and hand to mouth. Scores can range from 5-25; scores can be affected by muscle function, joint contracture, bony deformity, and neglect of involved arm. (Bae, 2008).

  • Toronto Test Score (TTS): used to evaluate neurological recovery in infants (Bae, 2008).

  • Hospital for Sick Children Active Movement Scale (AMS): used to quantify upper limb motor function (Bae, 2008).

  • Pediatric Outcomes Data Collection Instrument (PODCI): a patient/parent derived measure of functional outcomes; norm referenced (Bae, 2008; Huffman, 2005).

  • Brachial Plexus Outcome Measure (BPOM): Assess activity and participation (Ho, 2012)

  • Gilbert Shoulder Classification – grades 0-5 based on active shoulder abduction and external rotation

IV. Medical/Surgical Management

Medical/Pharmaceutical

• Early referral to a multidisciplinary center is recommended to maximize education for parents, provide access to specialized therapists, and assess for recovery and possible operative planning (Coroneos, 2017).

• Prevention, early diagnosis, and early referral to physical or occupational therapy are focus of initial management (Benjamin, 2005; Jellicoe, 2008; Mami, 1997)

Surgical Techniques

• Because many patients with upper plexus lesions recover spontaneously within days or weeks, surgery may not be needed (Kay, 1998). Recovery has been noted up to the age of 1 year (McAbee, 2006) and surgical intervention is only necessary in approximately 10% of cases.

  • Timing of surgery is debatable, but most sources say it should occur between 3-8 months if no spontaneous recovery is observed (Grossman, 2000). Microsurgery will improve, but not necessarily normalize the situation (Waters, 2005).

  • Surgery is usually performed for exploration, evaluation, and repair (Dunham, 2003). Surgical techniques/procedures include neurolysis, neuroma resection, nerve grafting, and nerve transfer (Grossman, 2000; Waters, 2005).

  • Total brachial plexus lesions, with accompanied Horner's sign, can be treated surgically at 3-4 months assuming no spontaneous recovery (Kay, 1998).

  • Primary surgery, often used in severe injuries or when no spontaneous healing has occurred by 3-4 months, should occur 3-6 months after birth (Mayo, 2001).

  • Secondary surgery is used to correct the effects of incomplete nerve healing on the surrounding joints. This type of surgery is usually performed between 2 and 10 years of age. Procedures include capsule release, joint fusion, osteotomy, and muscle or tendon transfer often occurring in combination with the goal of increasing functionality (Dunham, 2003).

  • Internal contracture release and muscle tendon transfer for external rotation led to improved range of motion (ROM), strength, arm function, quality of life and high parental satisfaction for children aged 3-10 using latissimus dorsi/teres major (van der Holst, 2015).

V. Key Aspects of Therapeutic Management

• Achievement of full function of the hand, wrist, elbow, and shoulder with emphasis on the restoration of abduction and external rotation guides goals (Grossman, 2000; Waters, 2005; Jellicoe, 2008).

• Using the ICF framework, treatment priorities shift from emphasis on body, structure and function deficits in infancy toward activity and participation as child matures. (Duff, 2015)

• Physical therapy goals should focus on aiding spontaneous recovery of function and preventing joint injury, contractures and abnormal movement patterns. Gaining full ROM and normal strength to participate in daily life activities guide goal decisions for the first two years.

• Intervention should address decreased ROM, decreased strength, atypical posture, sensory deficits, and prevention of joint deformity and dislocation

• ROM should be done with caution immediately post-injury (neonatal period); should be pain free; if pain, warrants further investigation of associated musculoskeletal problems; emphasis on preventing should internal rotation contractures; avoid aggressive supination as can cause radial dislocation; splinting wrist in some extension can improve function of fingers; should facilitate optimal scapula-humeral rhythm (Hearse, 2015; Semel-Concepcion, 2017)

• Exercise therapy is the most frequently used conservative treatment to prevent deformities and contractures, stimulate muscle and sensory function, increase awareness of the affected upper extremity and educate the parents (Bialocerkowski, 2009).

• Therapeutic management of infants: focus is on maintaining passive ROM, restoring symmetry and removing areas of potential nerve impingement (Waters, 2005; Ciervo, 2009). Caution is needed in first weeks after birth to avoid further damage.

• ROM: be gentle, avoiding pain and/or overstretching; strengthening: of the entire extremity; external rotators of importance in the shoulder (Waters, 2005).

• Parental education should address caring for the infant and administering a home program with gentle passive ROM (Waters, 2005).

• Functional training using constraint-induced movement therapy and Botox (Santamato, 2011)

• Manual therapy: myofascial release for torticollis, and contractures (Ramos, 2000).

• Electrical stimulation: neuromuscular electrical stimulation (NMES) during weight bearing exercises has been shown to improve shoulder function and bone mineral density in children with OBPI (Elnaggar, 2016).

• Postural education: avoid compensatory maneuvers that can lead to aberrant postures (Ramos, 2000).

• Splints: used to maintain shoulder abduction and external rotation and to prevent flexion contractures of wrist and fingers (Waters, 2005). Splinting no longer recommended for infants.

• Botox injection: used to reduce contraction forces that overpower weaker muscles and release contractures (Waters, 2005).

References

Cerebellar Disease and Tumor

I. Etiology:

A. Cerebellar Infarction:

• Can result from occlusion in the major branches to the middle or superior cerebellar artery or to the posterior inferior cerebellar artery (PICA) as well as the basilar artery. Infarction in anterior inferior cerebellar artery (AICA) seldom happens (Amarenco, 1990)

  • Infarction of PICA as well as the superior cerebellar artery may occur with massive paramedian brainstem infarction and cerebellar tonsilar herniation.

  • There is a frequent association with vertigo and impaired hearing with AICA infarct because of common blood supply (Ogawa, 2016).

• Arteriosclerosis, and embolism, can cause cerebellar infarction (Amarenco, 1990).

• Risk factors for cerebellar infarction include the following:

  • Poor dietary habits (hyperlipidemia), hypertension, diabetes mellitus, obesity, smoking, and those who suffered previously from a stroke.

  • Hypertriglyceridemia and rheumatic valve disease have been identified as risk factor (Amaya, 1997).

  • Trauma like whiplash, MVA or closed head injuries could also contribute to infarction (Schmahmann, 2004).

  • Infarctions in younger adults have been associated with drug abuse, vascular dissection, infections, and hypercoagulable states (Datar, 2014).

• Cerebellar infarctions are present in 2 to 3% of people who present to the emergency department with strokes (Datar, 2014).

• Many patients do not report acute onset of symptoms, and they may not seek medical attention for several days (Mitoma, 2016).

B. Cerebellar Tumor:

1. Hemangioblastoma- a tumor that is typically located in the posterior cranial fossa and presents primarily as a solitary lesion with an uncertain origin in the cerebellum.

   • Hemangioblastomas often occur in the spinal cord and brains stem in addition to the cerebellar hemisphere (Ji, 2016).

   • The endothelial cells and pericytes are not neoplastic and the stromal cells are believed to be the principle tumor cell (Catteeuw, 1994).

   • Hemangioblastomas are rare and make up only about 2% of all intracranial neoplasms, however they are the most common primary adult tumor of the posterior fossa.

     • Hemangioblastomas are more prevalent in males.

   • The etiology is not clear

     • Presence in various clinical syndromes may suggest an underlying genetic abnormality (Catteeuw, 1994).

     • The tumor is usually sporadic but approximately ¼ of the cases are associated with von Hippel-Lindau (VHL) disease, which is an autosomal dominant hereditary syndrome (often called Lindau's tumor) (Catteeuw, 1994).

   • Intermittent hemangioblastomas are typically associated with cysts and are large at the time of discovery. (Liao, 2014)

   • Cerebellar hemangioblastomas can cause disease symptoms similar to anorexia nervosa and appetite has been shown to return immediately following resection of the tumor (Oya, 2014)

2. Cerebellar Astrocytoma- a disease in which benign or malignant cells form in the tissues of the brain from brain cells called astrocytes.

   • Pilocytic astrocytomas are benign tumors located in the cerebellum more likely to occur in the first 20 years of life (Ye, 2014). The term "pilocytic" derives from the Greek word for hair and refers to the elongated and bipolar microscopic appearance of tumor cells. (Ye, 2014)

   • Although cancer is rare in children, brain tumors are the most common type of childhood cancer other than leukemia and about 15-25% of all childhood brain tumors are astrocytomas (Garcia, 1989).

   • Astrocytomas of the cerebellum are often cystic and well circumscribed (Schmahmann,2004).

   • Cerebellar pilocytic astrocytomas (Brandao, 2017)

     • Forty percent occur in the cerebellum. Sixty percent of all posterior fossa tumors in children are either cerebellar pilocytic astrocytomas or medulloblastomas.

     • Classified by the World Health Organization as a grade I tumor.

C. Hereditary Cerebellar degenerative disease:

• Spincocerebellar Ataxia (SCA) or also called Autosomal dominant spinocerebellar ataxia (SCAs) (Schmahmann, 2004)

• There are currently 44 different types of SCA, each with a different genetic cause but with very similar symptoms. (Smeets, 2016)

  • SCAs type 1,2,3,7, and 17 are due to lengthen of polyglutamine. (Schmahmann, 2004)

  • SCA1 is an incurable, dominantly-inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ATXN1 (Cvetanovic, 2015).

  • Disruption of Potassium or Calcium channel function cause the channelopathies, SCA 6, and episodic ataxia type 1 and 2 (Schmahmann, 2004).

  • SCAs 8, 10 and 12 are also called gene expression disorders. They are cause by repeat expansions outside of coding regions. (Schmahmann, 2004)

  • SCA type 12 is usually seen in German-American and Indian descents and is the most frequent ataxias in India (Swarup, 2012).

• Machado-Joseph disease (SCA type 3)

  • SCA type 3 may be the most common autosomal-dominant ataxia in many regions of the world, characterized by phenotypic heterogeneity (Fahl, 2014).

  • SCA3 is characterized by cervical cord atrophy and flattening (Fahl, 2013).

  • SCA3 is characterized by cerebral cortical damage with progression of the disease, leading to motor and cognitive dysfunction (De Rezende, 2015).

• Friedreich's Ataxia

  • Friedreich's Ataxia is an autosomal recessive neurodegenerative disorder (Vogel, 2014) and is the most common form of childhood onset ataxia with average onset at age 10 (Vogel, 2014).

  • The major clinical signs of Friedreich's ataxia are progressive ataxia, scoliosis, dysarthria (the most common type of speech deficiency), cardiomyopathy, diabetes mellitus and foot deformity (Vogel, 2014).

• Joubert Syndrome

  • Incidence of between 1/80,000 and 1/100,000 births (Brancati, 2010).

  • Joubert Syndrome is an autosomal recessive or X-linked (rare) neurological disorder (Romani, 2013).

  • Joubert Syndrome: characterized by underdevelopment of the cerebellar vermis and additional brain stem differences results in hypotonia; and developmental delays/intellectual disabilities of varying degrees.

II. Diagnostic Procedure:

A. General Signs and Symptoms:

• Headache, nausea and vomiting, incoordination/ataxia ipsilateral to lesion side, dysmetria/pass-pointing, intention tremor, dysdiadochokinesia, movement decomposition, overcompensation, dysarthria, confusion, nystagmus, diplopia, hypotonia, dysphagia, asthenia, gait disorder, loss of balance, neuropathy, asthenia, kyphoscoliosis, anorexia and gross muscle wasting (Oya, 2014).

• Sleep disturbances (DelRosso, 2014).

B. Cerebellar Infarction

• Imaging:

  • MRI is the method of choice for diagnosing cerebellar infarction (De Cocker, 2017).

    • On MRI, anterior inferior cerebellar artery infarction can often be mistaken for a lateral posterior inferior cerebellar artery infarction.

    • On MRI, subacute cerebellar infarcts may be missed during imaging methods due to a phenomenon called "fogging" where the infarct is almost invisible on MRI initially.

  • CT and MRI scan can be used to determine cerebral hemorrhage, but MRI has poor sensitivity for intracranial hemorrhage (Kummer, 2002).

    • Diffusion weighted MRI is more sensitive, which shows within the first two hours

    • Non-contrast head CT scan can be used to detect hyper-density of basilar artery, which can indicate a thrombotic occlusion (Datar, 2014).

  • Angiography and MR angiography can also be used.

  • Transcranial Doppler Sonography has been shown as a noninvasive method of monitoring elevated ICP in patients with large infarctions due to its ability to show cerebral cranial herniation and to decide if medical therapy or surgical therapy is to be used (Wijdicks, 2014).

• Labs and Other Tests:

  • A complete blood count can be helpful. Levels of blood glucose, sedimentation rate, along with a test to exclude syphilis and elevated cholesterol levels should be included

  • Cardiac arrhythmia can be ruled out with electrocardiography.

• Signs and Symptoms:

  • Non-equilibrium coordination tests can be used to assess cerebellar coordination function.

  • Having the patient fixate on the PT finger can test nystagmus. PT will be able to observe back and forth movement of the patient's eye during gaze upon a lateral placed object (PT finger) to the midline and back (Donan, 1987)

  • Cranial Nerve testing should also be done due to possible cranial nerve involvement, especially test for CNVII as well as CNVIII, CNIV, CNV, CNVI, CNIX-CNXII

  • Patients often complain of dizziness, vertigo, mild instability, or vomiting (Mitoma, 2016).

C. Cerebellar Tumor:

• Initial observation of a hemangioblastoma/astrocytoma is made by a MRI/CT scan.

• Laboratory test should also be done in order to determine red blood cell count.

• Brain tumor type is confirmed by biopsy and microscopic examination of tissue/cell type (Hayostek,1993).

• Some tumors are initially discovered when patient presents with anorexia nervosa symptoms to gastroenterologists due to medical referral (Oya, 2014).

• Hemangioblastomas in the cerebellum can be misdiagnosed as an aneurysm or ArterioVenous Malformation (AVM) of the PICA (Ji, 2016).

  D. Hereditary Cerebellar Degenerative Disease:

• Spinocerebellar Ataxias (SCA)

  • Diagnostic Testing

    • Evidence of degeneration can be seen on MRI/CT scan, with location depending on the type of ataxia.

    • Current molecular test can be used to identify the types of SCAs (Musova, 2012).

      • Genetic testing by using triple repeat primed polymerase chain reaction to diagnose Friedreich's ataxia (Xunclà, 2010)

      • Examination of expansions of gene is part of the differential diagnosis to identify types of SCA. (Musova, 2012)

  • Signs & Symptoms

    • Nystagmus usually seen in SCA 3, 6, 10, 15, and 16 (Rossi, 2014)

    • Diplopia more commonly seen in SCA 1, 2, 3, 6, and 31 (Rossi, 2014)

    • Visual impairment and retinal degeneration mostly seen in SCA7 (Rossi, 2014).

    • Intention or postural tremor usually found in SCA 2 and 12 (Rossi, 2014).

• Joubert Syndrome:

  • Presence of the "molar tooth sign" on axial MRI (T1-weighted) through the malformed pontomesencephalic junction (isthmus); two key features: enlarged superior cerebellar peduncles that do not decussate in the isthmus of the brain stem and cerebellar vermis dysplasia (Maria, 1997).

  • Hypotonia in 100% of infants (Parisi, 2007)

  • The presence of ataxia with broad-based gait, hypotonia, oculomotor disturbances, and language difficulties help to support the diagnosis of Joubert Syndrome (Bolduc, 2009; Brancati, 2010).

  • Developmental delay and mental retardation/intellectual disability in 100% of individuals but variable severity (Parisi, 2007; Brancati, 2010)

  • One or both of the following (not absolutely required but supportive of the diagnosis): (Parisi, 2007)

    • Irregular breathing pattern in infancy (episodic tachypnea and/or apnea)

    • Abnormal eye movements (including nystagmus, jerky eye movements, and oculomotor apraxia or difficulty with smooth visual pursuits)

III. Prognosis:

• Progressive disease and prognosis varies among underlying causes

• Recovery from cerebellar lesions is often slow and incomplete (Deluca, 2011).

  1. Trends of Progression

     • a) Early Stage

       1. Poor balance (Schmahmann, 2004)

       2. Inability to perform tandem gait (Schmahmann, 2004)

       3. Nystagmus(Ataxia UK)

       4. Dysarthria(Ataxia UK)

     • b) Later Stages

       1. Wide base gait (Schmahmann, 2004)

       2. Problem when turning around (Schmahmann, 2004)

       3. Stepping, staggering from side to side (Schmahmann, 2004)

       4. Dysphagia (Ataxia UK)

       5. Parkinsonian features (Ataxia UK)

       6. Ophthalmoplegia (Ataxia UK)

  2. Expected Sequelae

     1. Structural

        1. Cerebellar atrophy (Stowe, 2012)

        2. Disrupted motor/sensory pathways connecting cerebellum with other parts of the brain (Bastian, 1997)

     2. Function (Walker, 1990)

        1. Poor visual scanning, impaired visual/verbal memory, paraphasic errors

        2. Motor problems, i.e. frequent falls due to incoordination

        3. Difficulties with ADL such as, buttoning, donning, cooking etc.

        4. When the disease is very severe, the patient will not be able to stand or walk even with assistance. (Schmahmann, 2004)

A. Cerebellar Infarction:

• Prognosis in general always depends on the severity of the infarct and the time that lapses before intervention is initiated.

• No other brain infarction has a higher fatality rate than cerebellar infarction (Donnan, 1987).

  • Patients who survive and receive physical therapy often improve gait pattern, including gait speed and step symmetry.

• Poor Prognostic Factors

  • Prognosis is worse in older people and those with multiple comorbidities (Datar, 2014).

  • Survival is less for patients who lose consciousness due to infarction and exhibit coma.

  • Progressive brainstem dysfunction can be seen in some patients who had a cerebellar infarction but did not receive surgical alleviation of the cerebellar compression within 24-96 hours (Donnan, 1987).

  • Delayed treatment can lead to further strokes and death (Xunclà, 2010).

  • Patients with infarction of SCA are more impaired (postural impairment and gait ataxia) than those with infarction of PICA (Bultmann, 2014).

• Surgical intervention is used in patients who are rapidly deteriorating due to large amounts of edema and has favorable outcomes based on decreased co-morbidities and time elapsed from onset of symptoms (Datar, 2014).

B. Cerebellar Tumor:

1. Hemangioblastoma

   • Complete resection is usually curative (Jagannathan, 2008).

   • Recurrence can occur locally even with total resection and is more common with von Hippel-Lindau (VHL) complex

   • Usually a long history of minor neurologic symptoms (Catteeuw, 1994).

   • Patient's with gross emaciation and anorexia nervosa symptoms generally have a worse outcome due to delayed diagnosis of the tumor because of the belief the patient had a psychological disorder (Oya, 2014).

2. Cerebellar Astrocytoma (childhood)

   • Most important factor affecting prognosis is grade of astrocytoma and whether cancer cells remain after surgery (Hayostek,1993).

     • Complete removal during surgery results in 90% chance of cure (Gracia, 1989).

     • Tumors that are not fully removed are likely to recur.

   • Low grade astrocytomas treated optimally have a 5 to 10 year survival rate of 100% for completely excised lesions (Gracia, 1989).

     • In children with low-grade astrocytoma, total tumor resection has a more favorable prognosis than partial tumor resection (Loh, 2013).

   • Long term quality of life prognosis after tumor excision is positive when combined with neurocognitive interventions that are carefully coordinated with parents and teachers to correctly sequence interventions (Aarsen, 2004)

   • Pilocytic astrocytomas have a more favorable prognosis in a younger population. (Ye, 2014)

   • Cerebellar high-grade astrocytomas result in worse survival rates compared to cerebral high-grade astrocytomas (Karremann, 2013).

   • There is little to no correlation between location of cerebellar astrocytoma and the cognitive or adaptive outcomes in a pediatric population (Beebe, 2005).

C. Hereditary Cerebellar Degenerative disease:

1. Friedreich's ataxia

   • 15-20 years after the first symptoms, patients usually dependent on wheelchair. (NINDH)

   • Cardiac dysfunction is the most common cause of death in patients with Friedreich's Ataxia (59%) (Delatycki, 2012)

   • Onset typically occur before 25 years old. (Delatycki, 2012)

     • Late-onset (after 25 years) found in about 14% of affected individuals

     • Very late-onset (after 40 years) is very rare

2. Spinocerebellar Ataxias Type 1, 2, 6

   • Mean age onset 19 to 71 years old.

   • Survives 10-15 years after the appearance of first symptoms (Globas, 2008)

3. Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)

   • Aspiration pneumonia often cause the early death in patients with MJD (Machado-Joseph Disease Fact Sheet.)

   • Life expectancy ranges from the mid-30's for those with most severe form to nearly normal life expectancy for those with mild, late-onset forms.

   • Patients with Machado-Joseph Disease have shown extracerebellar degeneration (including the cerebral cortex) throughout the course of the disease, causing a decline in motor and cognitive function. (de Rezende, 2015)

4. Spinocerebellar Ataxias Type 8

   • Patients with SCA8 will typically have a normal lifespan (Stone, 2001)

   • Most of the time it is associated with sporadic cases (Musova, 2012)

5. Joubert Syndrome (and related disorders)

   • While global developmental delay is frequent, health and growth are usually not severely affected.

   • Commonly a degree of mild or moderate retardation.

     • Severe mental retardation is uncommon.

   • Few cases of affected individuals with normal intelligence or learning abilities.

IV. Medical and Surgical Management

A. Pharmaceuticals

1. Physostigmine: Active cholinerase inhibitor physostigmine to prevent further cerebellum atrophy (Ogawa, 2004).

2. For ataxia

   1. Choline and choline derivatives: Lecithin/ pure phosphatidycholine may improve ataxia and muscle strength in patients with Friedreich's Ataxia (Ogawa, 2004).

   2. Serotonergic system: hydroxytryptophan (Serotonin precursor) may improve cerebellar ataxia (Ogawa, 2004).

   3. Thyrotrophin releasing hormone is used to improve ataxic syndrome in patients with SCAs (Ogawa, 2004).

   4. Acetazolamide is used to improve sign and symptoms of episodic ataxia type 2. v. Cycloserine: D-serine ethylester or D-cycloserine is effective to treat truncal ataxia, and dysarthria.(Ogawa, 2004)

   5. Varenicline(for type 3 SCA) to improve axial symptoms and rapid alternating movements (Zesiewicz, 2012)

   6. Riluzole has been used to improve cerebellar ataxia in research and is moving towards use in clinical practice (Romano, 2015).

3. Sulfamethoxazole-trimethoprim: Tetrahydrobiopterin can be used to improve gait and spasticity (Ogawa, 2004).

4. Aminopyridines help treat downbeating nystagmus as a symptom (Ilg, 2014).

5. Co-enzyme Q10 may decrease seizures, developmental delay, mental retardation, and pyramidal signs (Lamperti, 2003)

6. The efficiency of corticosteroids (prednisone or dexamethasone) in the reduction of brain swelling is questioned (Tierney, 2003).

7. Idebenone (for Friedreich's Ataxia): Used as therapy for more than a decade; may provide a trend toward improved total, emotional, social, and school components of quality of life (after 1 year trial). (Brandsema, 2010)

8. Mannitol and hypertonic saline are used to manage cranial swelling after infarction (Datar, 2014)

9. To date, no medications have proven to be effective in halting disease progression (Ilg, 2014).

10. There is growing evidence supporting the use of coenzyme Q10 and lithium carbonate to treat Machado Joseph Disease (SCA3). However, more research is needed (Lopes-Ramos, 2016).

B. Possible surgical techniques

1. Tumors

   1. High dose radiation may reduce the size of the tumor (Amaya, 1997)

   2. Chemotherapy is sometimes used to stop the growth of cancer cells

   3. Surgical excision of the tumor nodule (cyst wall does not have to be removed)

2. Infraction

   1. Surgical decompression to decrease the intracranial pressure

   2. Hemicraniectomy for severe cerebellar infarction (Wijdicks, 2014)

   3. Bilateral cerebellar infarctions are best managed using immediate decompressive craniectomy and insertion of external ventricular drainage to prevent loss of life or decreased state of consciousness. (Tsitsopoulos, 2011)

3. Thalamotomy to treat tremor (Marmolino, 2010)

4. High frequency electrical stimulation (Deep Brain Stimulation) of the ventral intermediate nucleus (Marmolino, 2010)

5. Stem cell transplantation (Marmolino, 2010)

6. Spine surgery to correct neurology scoliosis to reduce ataxias symptoms (lumbar transpedicular screws, thoracic Universal Clamps, pedicle-transverse hooks at the upper end of the curve) (La Rosa, 2010)

V. Therapeutic Management:

A. Guide Practice Patterns (APTA, 2017)

1. Pattern 5A: Primary Prevention/Risk Reduction for Loss of Balance and Falling

2. Pattern 5E: Impaired Motor Function and Sensory Integrity Associated With Progressive Disorders of the Central Nervous System

B. General PT options

• Therapy for cerebellar tumors will consider hypotonia, ataxia, tremors, asthenia, rebound phenomenon, nystagmus, prevention and intervention for movement disorders, and dysarthria (Konecne, 1998)

• Treatment for Incoordination/Ataxia

  • Balance, coordination and agility training

  • Vestibular treatment

  • Encourage patients to be physically active

  • Strengthening exercises

  • Neuromuscular training

  • Exergame training (Synofzik, 2014)

• Treatment for Difficulties in ADL

  • Body mechanics and postural stabilization

  • Neuromotor retraining for specific functional motor patterns (Synofzik, 2010)

  • Gait and locomotion training

  • PNF patterns for strengthening and stabilization

• Treatment for Tremor

• Gait and locomotion training

  • Orthotic devices

  • Assisted devices

  • Gait training

  • Stretching/strengthening/ROM

• Treatment for Dysphagia

  • Speech therapy

• Prevent Muscle Contracture

  • Passive range of motion

  • Stretching

• Treatment for Hypotonia

  • Use NMES to activate hypotonic muscles

  • Postural control training

  • Stretching and tapping if necessary

• Considerations for Physical Therapists (Kelly, 2015)

  • Patients with cerebellar lesions have difficulty responding to and learning from unexpected sensory input, so consider the environment in which therapy takes place.

  • Cerebellar impairment results in impaired motor learning.

  • Patients with cerebellar lesions have difficulty consolidating movements as automatic, especially problematic during gait training

C. Contraindications/precautions

1. Patients should be encouraged to reduce anxiety and stress because stress will worsen the tremor.

2. Patients with cerebellar disease should avoid alcohol assumption because it will exacerbate the condition. (Stone, 2001).

3. Radiation should be delayed for children younger that 3 years of age due to the effects of radiation on the developing brain (Catteeuw, 1994).

4. Diabetic patients with Friedreich's Ataxia need precautions when doing exercises because they have lower glucose tolerance. (Delatycki, 2012).

D. Healthcare promotion/education

1. Education of lifestyle changes

   • a) A modified diet with lipid intake reduction

   • b) Control of hypertension

   • c) Cessation of smoking

   • d) Increase of physical activities with the goal on weight reduction.

   • e) Decreased intake of alcohol

   • f) Control of diabetes mellitus and other co-morbidities