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Genetic counseling: Cerebral Palsy

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Cerebral palsy

ContractingEdit

  • 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

EtiologyEdit

  • 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 FeaturesEdit

  • 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
  • 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 OptionsEdit

  • 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 DiagnosisEdit

  • Leukodystrophy - spinal tap showing elevated spinal fluid indicates leukodystrophy
  • Hydrocephaly if child has large head
  • Tumor of cerebral hemishphere - disease is progressive
  • Spinal cord lesions - weakness limited to lower extremities
  • Muscular dystrophy - tendon reflexes would be normal
  • Ataxia telangiectasia

Recurrence RisksEdit

  • 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 IssuesEdit

  • 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

ReferencesEdit

  • "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.

NotesEdit

The information in this outline was last updated in 2002.


Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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