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cerebral palsy
A generic term for non-progressive motor dysfunction present at birth or beginning early in childhood.
Etiology:
1) disorders in utero
2) birth trauma
3) neonatal asphyxia
4) neonatal jaundice
5) preterm (< 38 weeks) & posterm (> 42 weeks) associated with increased risk
6) higher pre-pregnancy BMI associated with increased risk of cerebral palsy in offspring [6]
- high-normal BMI (23.0-24.9): 35% increase
- overweight (BMI, 25.0-29.9) & obese (BMI >= 30.0): 55% increase
Epidemiology:
1) 0.1-0.2% of children
2) 1% of premature or low birth-weight infants
Pathology:
1) spasticity due to upper motor neuron injury
2) corticobulbar involvement is common with quadriplegia
3) choreoathetosis secondary to basal ganglia involvement
4) ataxia is due to involvement of
a) cerebellum, &/or or
b) spinocerebellar tract
Genetics:
- autosomal recessive form associated with defects in GAD1
Clinical manifestations:
1) syndromes
a) 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
b) choreoathetosis (20% of cases)
- manifestations increase with emotional tension & disappear during sleep
- dysarthria is present & often severe
c) ataxia (10%)
- weakness
- incoordination
- intention tremor
- wide-based gait
- unsteadiness
- difficulty with rapid or fine movements
d) mixed
- most commonly spasticity & choreoathetosis
- less commonly ataxia & athetosis
e) developmental delay, mental retardation & sometimes epilepsy may occur with autosomal recessive forms
2) localization
- paraplegia
- intellect generally normal with spastic paraplegia
- hemiplegia
- intellect generally normal with spastic hemiplegia
- quadriplegia
- generally associated with disabling mental retardation
3) 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:
1) Tay-Sachs disease
2) metachromatic leukodystrophy
3) mucopolysaccharidosis
4) adrenoleukodystrophy
a) diffuse cerebral sclerosis
b) Schilder's disease
5) Lesch-Nyhan syndrome
6) tuberous sclerosis
7) neurofibromatosis
8) ataxia telangiectasia
9) von Hippel-Lindau disease
10) Sturge-Weber syndrome
11) spinal muscular atrophy
12) spinocerebellar ataxia
13) muscular dystrophy
Management:
1) goal is maximum independence
2) physical therapy/occupational therapy
3) speech therapy
4) seizure prophylaxis if indicated (see seizure)
5) orthopedic surgery may be indicated
6) Information & help is available through:
-> United Cerebral Palsy Association
Notes:
- quality-of-life for adolescents is similar to that of unaffected peers [5]
Specific
athetoid cerebral palsy (dyskinetic cerebral palsy)
cerebral palsy spastic quadriplegic type 2
General
genetic disease of the central nervous system
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 603513
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.
PMID: 20810375
http://jama.ama-assn.org/cgi/content/short/304/9/976
- 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: 16417662
- 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
PMID: 25301503
http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2814%2961229-0/abstract
- Forthun I, Wilcox AJ, Strandberg-Larsen K et al
Maternal Prepregnancy BMI and Risk of Cerebral Palsy in Offspring
Pediatrics Sep 2016
PMID: 27609826
- 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