Handbook of Genetic Counseling/Cerebral Palsy
Cerebral palsy
Contracting
edit- What is your understanding of why you were referred to genetics?
- What questions or concerns would you like us to address today?
- Set agenda for the session
Etiology
edit- Heterogeneous group of conditions usually leading to ataxia
- Sometimes inherited in autosomal dominant, autosomal recessive, or X-linked form in familial cerebellar hypoplasia
Inheritance | Condition | Features |
---|---|---|
Autosomal Dominant | Cerebellar Vermis Aplasia | Female Sex Bias |
Autosomal recessive | Cerebellar hypoplasia with or without retinal pigment abnormality | Presents in infancy |
Cerebellar granule cell hypoplasia | 2 or more types, one with severe microcephaly | |
Cerebellar ataxia with neuronal migration defect | Absence of muscle disease | |
Pontoneocerebellar atrophy with extrapyramidal dyskinesia | ||
Fatal infantile olivopontocerebellar hypoplasia | Neronal loss in olives and pontine nuclei, white matter gliosis, microcephaly | |
Cerebellar atrophy with infantile striatal degeneration | Progressive epilepsy, mental handicap, death after febrile illness | |
Gillespie syndrome | Cerebellar atrophy, aniridia, mental handicap | |
Cerebellar atrophy and anterior horn cell disease | Neuromuscular condition similar to type I SMA | |
Cerebellar hypoplasia with progressive pancytopenia (Hyoyeraal-Hreidarsson) | Males with growth retardation, microcephaly, pancytopaenia (X-linked?) | |
Cerebellar atrophy, renal and liver disease | Carbohydrate-deficient glycoprotein syndrome | |
X-linked (possibly) | Paine syndrome | Hypoplasia of pons and olives, microcephaly, epilepsy, mental handicap, spasticity |
X-linked dominant vermis aplasia | Preponderance of female-to-female transmission | |
Cerebellar vermis aplasia, holoprosencephaly syndrome | Male sibs affected by holoprosencephaly and/or vermis aplasia |
- Congenital and childhood-onset ataxias tend to be autosomal recessive
- Adult-onset conditions tend to be autosomal dominant
- May also be due to teratogenic insults
- Methymercury
- Retinoic acid
- Anticonvulsants
- Most common cause is hypoxic/ischemic injury in perinatal period or early childhood
- Anoxia
- Trauma to the brain at birth
- Can be caused by cerebral injury later in life
Clinical Features
edit- Several classes with different features
- Spastic diplegia
- Onset several weeks or months after birth
- Delay in normal development, especially motor skills
- Results from prenatal or perinatal insult
- Walking attempted much later and results in characteristic stance and gait
- Legs advanced stiffly in short steps like arc of circle
- May have scissors gait with crossing over of legs
- Lower legs splayed out, feet flexed and turned in, heels not touching ground
- Posture alternates between extremes of supination and pronation
- Walking accompanied often by rotary movements of neck and facial grimacing
- Legs short and small but muscles not atrophic
- Arms may also be mildly affected
- Onset several weeks or months after birth
- Hemiplegia
- Difference in function of right and left extremities noticed after birth or 6-12 months
- Accounts for about 1/3 of children with cerebral palsy
- Affects arms first, noticed in legs when learning to walk
- Mental defects depend on whether brain lesion confined to one hemisphere
- Convulsions (35-50%)
- Seizures may accompany onset if develops during childhood
- Usually limited to hemiplegic side of body
- May persist throughout life
- Double hemiplegia
- Occurs less frequently than hemiplegia
- Bilateral weakness of face, arms, and legs
- Begins at any age due to acquired cerebral disease
- May be due to bilateral cerebral lesion or high cervical cord lesion
- May also be produced in infant by fracture-dislocation of cervical spine by breech delivery
- Arms severely affected
- Congenital choreoathetosis
- Recognized after several months or a year
- Causes some combination of chorea, athetosis, ballismus, myoclonus, and dystonia
- Causes defect in voluntary movement
- May be mild resulting in "fidgets"
- May be severe, intense involuntary movements
- Even with rehabilitation, the most severe rarely achieve enough motor control to live independent life
- Intelligence may not be affected
- Kernicterus
- Was common when postnatal serum bilirubin was kept below 15 mg/dL
- Majority of infants die within 1 or 2 years
- Survivors usually mentally retarded, deaf, and totally unable to sit, stand, or walk
- Several patients reportedly were not mentally retarded and learned to walk backwards
- Have rigid limbs
Management/Treatment Options
edit- Outcome depends on severity of associated intellectual handicaps
- Early application of stretching to prevent contractures
- Orthopedic appliances and surgical procedures to improve mobility
- Special education to help with motor problems and intellectual involvement
- Prevention is great challenge
- Prevention of kernicterus by phototherapy has helped
- Providing low-birth weight infants with extra care may help
- More prone to respiratory distress
- Must provide good surveillance of respiratory function
Differential Diagnosis
edit- Leukodystrophy - spinal tap showing elevated spinal fluid indicates leukodystrophy
- Hydrocephaly if child has large head
- Tumor of cerebral hemisphere - disease is progressive
- Spinal cord lesions - weakness limited to lower extremities
- Muscular dystrophy - tendon reflexes would be normal
- Ataxia telangiectasia
Recurrence Risks
edit- Depends if cause of cerebral palsy can be determined
- Autosomal recessive
- Each pregnancy from heterozygote parents has 25% risk of child being affected
- Each pregnancy has 50% risk of being carrier
- Autosomal dominant
- Each child born to affected parent has 50% chance of being affected
- May also occur due to new mutation so low recurrence risk
- X-linked
- Sons of affected males not affected
- Daughters of affected males must be affected
- Daughters of carrier females 50% risk of being carriers
- Sons of carrier females 50% risk of being affected
- Most cases probably caused by hypoxic or ischemic injury to brain so recurrence risk is low
Psychosocial Issues
edit- Parental guilt
- Burden of disease that requires daily management
- Social stigma
- Financial pressures, disruption of daily activities for special therapies, orthotics, or other needs
- Potential need for lifetime care
References
edit- "Abnormalities of Motor Function (Cerebral Palsy)." Principles of Internal Medicine (1994): 2342.
- "Cerebellar Hypoplasias." Principles and Practice of Medical Genetics (1997): 2154-2156.
- "Cerebral Palsy (Little Disease)." Textbook of Pediatrics (1979): 1759-1761.
Notes
editThe information in this outline was last updated in 2002.