Doctor insights on:
Are There Official Recommendations For Treating Angelman Syndrome
Suggestions: A complete list of medical, therapeutic & educational treatments & supports is found on www.Angelman.Org. A parent can fill in their demographics & their child's genetic findings from fish test of chr 15 or cgh, +/- methylation to receive support & suggestions. Or they can call 617-726-6540, the angelman syndrome clinic at mass. General in boston. ...Read moreSee 1 more doctor answer
Dx 90% lab, 10% PE: A clinical geneticist can make a diagnosis by observing the combination of unusual behavioral features and pattern of developmental delay, usually by 2 years of age. 90% confirmed by convoluted genetic testing, 10% by clinical presentation alone. Treatment includes the full range of therapies for developmental delay, especially speech therapy initially concentrating on nonverbal communication. ...Read moreSee 1 more doctor answer
Sometimes: Some cases are due to a mutation carried by the mother. Most are due to spontaneous mutations or epigenetic events in the fertilized egg. So, the risk of Angelman may be inherited, but the disease may be genetic or due to epigenetic factors. It is one of the most complex genetic mechanisms yet discovered, and a clinical geneticist must analyze whether other family members are at up to 50% risk ...Read moreSee 1 more doctor answer
Happy Puppet Syndrom: As is a genetic disorder, a chromosome 15 deletion, characterized by intellectual and developmental delay, sleep disorder, seizures, jerky movements, abnormal gait, autistic behavior and frequent laughter or smiling.No cure is available, anti-seizure medications can be given for the seizures. ...Read more
Variable: Angelman patients lack a good copy of the gene UBE3A from their mothers. This may be the result of uniparental disomy (both chromosome 15's from Dad) or a new mutation on Mom's chromosome. It's tricky and goes beyond Mendel's laws. ...Read more
Actually, : It's almost always a new mutation. If mom has a translocation on chromososome 15 or has a point mutation of the ube3a gene, the risk goes up. It can be from deletion of 15q11-q13 on the maternal copy of chromosome 15 or from having both chromosomes 15 come from father or act as if they're both from father.Fish test of chr 15 or cgh & methylation are genetic tests used for diagnosis & to test mom. ...Read more
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