cerebral palsy

Introduction

A generic term for non-progressive motor dysfunction present at birth or beginning early in childhood.

Etiology

• disorders in utero
• birth trauma
• neonatal asphyxia
• neonatal jaundice
• preterm (< 38 weeks) & posterm (> 42 weeks) associated with increased risk
• higher pre-pregnancy BMI associated with increased risk of cerebral palsy in offspring
  • high-normal BMI (23.0-24.9): 35% increase
  • overweight (BMI, 25.0-29.9) & obese (BMI >= 30.0): 55% increase

Epidemiology

• 0.1-0.2% of children
• 1% of premature or low birth-weight infants

Pathology

• spasticity due to upper motor neuron injury
• corticobulbar involvement is common with quadriplegia
• choreoathetosis secondary to basal ganglia involvement
• ataxia is due to involvement of
  • cerebellum, &/or or
  • spinocerebellar tract

Genetics

• autosomal recessive form associated with defects in GAD1

Clinical manifestations

• syndromes
  • spasticity
    • most common (70% of cases)
    • affected limbs generally underdeveloped
    • increased deep tendon reflexes
    • hypertonic muscles
    • weakness
    • tendency for contractures
    • 'scissors gait' & toe-walking
    • with mild cases, disorder may only be noted with certain activities, such as running
    • dysarthria with corticobulbar involvement
  • choreoathetosis (20% of cases)
    • manifestations increase with emotional tension & disappear during sleep
    • dysarthria is present & often severe
  • ataxia (10%)
    • weakness
    • incoordination
    • intention tremor
    • wide-based gait
    • unsteadiness
    • difficulty with rapid or fine movements
  • mixed
    • most commonly spasticity & choreoathetosis
    • less commonly ataxia & athetosis
  • developmental delay, mental retardation & sometimes epilepsy may occur with autosomal recessive forms
• localization
  • paraplegia
    • intellect generally normal with spastic paraplegia
  • hemiplegia
    • intellect generally normal with spastic hemiplegia
  • quadriplegia
    • generally associated with disabling mental retardation
• manifestations often not apparent until year 2 of life

Laboratory

• not useful except to distinguish inborn errors of metabolism

Complications

• tonic-clonic seizures in 25%
  • most commonly in patients with hemiplegia
• early mortality
  • 90% of patients survive until age 19
  • 2/3 of patients live at least 50 years

Differential diagnosis

• Tay-Sachs disease
• metachromatic leukodystrophy
• mucopolysaccharidosis
• adrenoleukodystrophy
  • diffuse cerebral sclerosis
  • Schilder's disease
• Lesch-Nyhan syndrome
• tuberous sclerosis
• neurofibromatosis
• ataxia telangiectasia
• von Hippel-Lindau disease
• Sturge-Weber syndrome
• spinal muscular atrophy
• spinocerebellar ataxia
• muscular dystrophy

Management

• goal is maximum independence
• physical therapy/occupational therapy
• speech therapy
• seizure prophylaxis if indicated (see seizure)
• orthopedic surgery may be indicated
• Information & help is available through:
  • United Cerebral Palsy Association

Notes

• quality-of-life for adolescents is similar to that of unaffected peers

More general terms

• genetic disease of the central nervous system
• genetic syndrome (multisystem disorder)

More specific terms

• athetoid cerebral palsy (dyskinetic cerebral palsy)
• cerebral palsy spastic quadriplegic type 2

Patient information

cerebral palsy patient information

Database

• OMIM: https://mirror.omim.org/entry/603513