cerebral palsy
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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[6]
Epidemiology
- 0.1-0.2% of children
- 1% of premature or low birth-weight infants
- cerebral palsy is the most common lifelong physical disability[7]
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
- spasticity
- localization
- paraplegia
- intellect generally normal with spastic paraplegia
- hemiplegia
- intellect generally normal with spastic hemiplegia
- quadriplegia
- generally associated with disabling mental retardation
- paraplegia
- 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[4]
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:
Notes
- quality-of-life for adolescents is similar to that of unaffected peers[5]
More general terms
More specific terms
References
- ↑ Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
- ↑ The Merck Manual, 14th ed, Merck, Sharp & Dohme, Rathway, NJ, 1982
- ↑ Moster D et al, Cerebral Palsy Among Term and Postterm Births JAMA. 2010;304(9):976-982. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/20810375 <Internet> http://jama.ama-assn.org/cgi/content/short/304/9/976
- ↑ 4.0 4.1 Hemming K, Hutton JL, Pharoah PO. Long-term survival for a cohort of adults with cerebral palsy. Dev Med Child Neurol. 2006 Feb;48(2):90-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16417662
- ↑ 5.0 5.1 Colver A et al Self-reported quality of life of adolescents with cerebral palsy: a cross-sectional and longitudinal analysis. The Lancet, Early Online Publication, 7 October 2014 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25301503 <Internet> http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2814%2961229-0/abstract
- ↑ 6.0 6.1 Forthun I, Wilcox AJ, Strandberg-Larsen K et al Maternal Prepregnancy BMI and Risk of Cerebral Palsy in Offspring Pediatrics Sep 2016 PMID: https://www.ncbi.nlm.nih.gov/pubmed/27609826
- ↑ 7.0 7.1 Peterson MD. Reframing Cerebral Palsy as a Lifelong Physical Disability. N Engl J Med. 2024 Nov 7;391(18):1668-1670. PMID: https://www.ncbi.nlm.nih.gov/pubmed/39494838
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Cerebral Palsy Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebral-Palsy-Information-Page
Cerebral Palsy: Hope Through Research https://www.ninds.nih.gov/disorders/patient-caregiver-education/hope-through-research/cerebral-palsy-hope-through-research
Patient information
cerebral palsy patient information