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Angelman syndrome (AS) is a rare genetic disorder which primarily affects the nervous system with a small head, facial characteristics and intellectual disability. It generally is first noticed around one year of age. Due to a lack of function of part of chromosome 15. Prevalence of around 1 in 12000 to 20000 people.
It was previously and often referred to as “Happy Puppet Syndrome” due to the characteristic happy demeanour and the stiff jerky movements of the children who have it. However, the name has many negative connotations associated with it.
First reported in 1965 in three children as ‘Puppet’ Children by the paediatrician, Harry Angelman from Warrington, England.
Common features:
Developmental delay; ataxia and/or tremulous movement of limbs; frequent laughter or smiling; hand flapping; speech impairment; microcephaly; seizures, abnormal EEG
Also can have, but less commonly:
Protruding tongue; drooling; feeding problems; mouthing behaviors; flat occiput; prominent jaw; hypopigmented skin; light hair; strabismus; scoliosis; hyperreflexia; sleep disorders; fascination with water and crinkly type items; increased sensitivity to heat; obesity as get older
Lower Limb Involvment:
~20% have wider base of gait with pronated feet or valgus ankles
Hyperactive lower extremity deep tendon reflexes
Consequences of obesity
Foot self care and hygiene issues
Differential Diagnosis:
Rett syndrome; Prader-Willi syndrome; Lennox-Gastaut syndrome; Infantile autism
Management:
Mostly supportive
Management of seizures
Management of behaviors, learning, motor impairment and sleep disturbance.
Genetic counselling
Prognosis:
Symptoms tend to change with age
ICD-10:
>XVII Congenital malformations, deformations and chromosomal abnormalities
>>Q90-Q99 Chromosomal abnormalities, not elsewhere classified
>>>Q93.5 Other deletions of part of a chromosome
>>>>(Angelman syndrome)
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