Angelman syndrome is a genetic disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking and, in some cases, seizures.
Angelman syndrome is usually not recognized in early infancy since the developmental problems are nonspecific during this time. The most common age of diagnosis is between two and five years when the characteristic behaviors and features become most evident. Parents may first suspect the diagnosis after reading about AS or meeting a child with the condition. Children with AS may have a relatively wide mouth and a protruding tongue, sometimes associated with a prominent chin.
Developmental delays include:
- Movement or balance disorder
- Usually ataxia of gait
- Behavioral uniqueness (frequent combination of laughing laughter/smiling, happy demeanor, Often hand-flapping or waving movements)
- Behavioral uniqueness such as any combination of frequent laughter/smiling, excitable personality, often with uplifted hand-flapping or waving movements and speech impairment
- None or minimal use of words
- Receptive and non-verbal communication skills higher than verbal ones.
Confirming a diagnosis of Angelman syndrome requires taking a blood sample from your child for genetic studies. A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. Genetic testing can be completed by asking your pediatrician to refer you to an appropriate source.
Your child might have an evaluation with a Speech Language Pathologist, Occupational Therapist or Physical Therapist. The therapist will talk with you about your child’s medical history and your reason for coming to the evaluation. They will talk with you about difficulties your child is having in a typical day. The therapist’s assessment will involve looking at the child’s current developmental skills as related to speech, fine motor, gross motor and feeding skills. They may give a formal test to your child as well as interact with and observe our child.
Use speech, occupational, and physical therapy treatment strategies to improve function in daily activities as well as exploration of augmentative and alternative communication means or other equipment related to movement and independence.