Angelman syndrome

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Angelman syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, speech impairment, ataxia, seizures, happy demeanor
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation or chromosomal deletion on chromosome 15
Risks	Family history of the condition
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Cerebral palsy, autism spectrum disorder, Rett syndrome
Prevention	N/A
Treatment	Supportive care, physical therapy, speech therapy, anti-seizure medication
Medication	N/A
Prognosis	Normal life expectancy with supportive care
Frequency	1 in 12,000 to 20,000 people
Deaths	N/A

Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.  Gastrointestinal, orthopedic, and eye problems also are often present. 

Prader-willi and angelman syndrome

Clinical features

Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months. 

Progression

Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS.  Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech. 

Angelman syndrome

Cause

The disorder results from the absence of the UBE3A gene inherited from the mother.  The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.

Prognosis

Fair. Most individuals with Angelman syndrome will have significant developmental delays, speech limitations, and motor difficulties, but they understand much of what is said and often learn to communicate non-verbally and by using communication devices.  T

Treatment

Symptomatic and supportive

Sources and external links

Syndrome Angelman Syndrome at NINDS