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Angelman syndrome
Angelman syndrome is a rare genetic and neurological disorder that is characterized by severe developmental delay; learning and speech disabilities; ataxia; tremulousness; and a distinct behavioral pattern characterized by a cheerful disposition
Prevalence
1-9 / 100 000
Age of Onset
ICD-10
Q93.5
Inheritance
This condition does not appear to have a clear pattern of inheritance.
5 Facts you should know
FACT
Angelman syndrome (AS) is characterized by significant developmental delay, severe speech impairment, gait ataxia, and unusual happy demeanor
FACT
AS is caused by absence of the maternally inherited copy of the UBE3A gene
FACT
More than 80 percent of individuals with AS have seizures by the time they reach two years of age
FACT
The characteristic findings of AS are usually diagnosed between 1 and 4 years of age
FACT
AS is commonly misdiagnosed with Prader-Willi syndrome, autism, and cerebral palsy due to the common characteristics these diseases have
Interest over time
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Common signs & symptoms
Absent speech
Ataxia
Behavioral abnormality
Blue irides
Brachycephaly
Broad-based gait
Cerebral cortical atrophy
Clumsiness
Mandibular prognathia
Current treatments
Treatment focuses on managing the symptoms and maximizing the individual's quality of life. Some approaches and therapies may include:
Behavioral Therapies
These may include applied behavior analysis (ABA) therapy to help with communication, social skills, and behavior management
Physical Therapy
Physical therapy can help improve mobility, balance, and coordination
Occupational Therapy
Occupational therapy focuses on developing skills needed for activities of daily living, such as feeding, dressing, and self-care
Speech Therapy
Speech therapy can help improve communication skills, including speech, language, and nonverbal communication
Medications
Medications may be prescribed to manage symptoms such as seizures, sleep disturbances, and anxiety. However, it's essential to consult with a healthcare professional for appropriate medication management