Question 1

what is the difference between angelman syndrome and autism?

Accepted Answer

Angelman Syndrome = :  intellectual disability,puppet-like, jerky movements, hand-flapping, laughter outbursts, sociability, &amp; severe language deficits from lack of  maternal genes, 2 sets of paternal genes or only active paternal genes on Chromosome 15q11.2-q13. A few  kids with AS lack social communication &amp; reciprocity + their stereotypical movements, warranting additional diagnosis of Autistic Spectrum Disorder.

Question 2

how to know what is angelman syndrome?

Accepted 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.

Question 3

angelman syndrome symptoms include what?

Accepted Answer

Angelman syndrome: Individuals with angelman syndrome have a characteristic facial appearance with microbrachycephaly, maxillary hypoplasia, deep-set eyes, and large mouth with tongue protrusion. The gait is jerky and puppet-like and behavior is marked by frequent spells of inappropriate laughter. Severe intellectual disability and speech impairment are usually present, and most suffer from epilepsy.

Question 4

what sort of problem is angelman syndrome?

Accepted Answer

Angelman syndrome: Angelman syndrome is a genetic cause of developmental delay and neurological problems.  Affected kids have"flat heads, jerky movements, protruding tongues, and bouts of laughter." infants appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Info at: http://www.Ninds.Nih.Gov/disorders/angelman/angelman.Htm.

Question 5

what are the symptoms of angelman syndrome?

Accepted Answer

Early on: Seizures & microcephaly ( small head), developmental delays may present first, characteristic facial features ( e.g., pointed chin) are seen. Later, ataxic ( unsteady) gait hand -flapping, happy demeanor with frequent laughter, intellectual disability, hyperactivity, short attention span, severe language impairment, feeding problems, chewing/mouthing objects, gene involved is on chromosome 15.

Question 6

did any famous people have angelman syndrome?

Accepted Answer

No: As is a genetic disorder due to dysfunction of a gene (ube3a) on chromosome 15. Patients have developmental delay, problems with movement/balance, happy/excitable personality & problems with speech.  See: www.Angelman.Org. The children of some famous people have been diagnosed with as: sons of actor, colin farrell, author, ian rankin, baseball player, dave henderson, & hockey player, peter mcduffe.

Question 7

what is the probability of inheriting angelman syndrome?

Accepted Answer

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.

Question 8

angelman syndrome, what are the latest developments to treat this?

Accepted Answer

Topoisomerase drugs: Angelman syndrome has a variety of neurological and physical issues which are treated supportively.  However, the disease is caused by silencing of the ube3a gene.  Topoisomerase inhibitors like topotecan and Etoposide have been used in an animal model to unsilenced the ube3a gene in brain neurons.  This class of drug may be useful for early treatment.

Question 9

hello docs, is angelman syndrome inherited or a disorder?

Accepted Answer

Most of the time not: Angelman syndrome, while it is a genetic condition, is rarely inherited and thus the risk of it happening again in other children of the same parents is very low, .

Question 10

is there anything you can do to prevent angelman syndrome?

Accepted Answer

No.: Most cases are sporadic, though some are familial. There is no association with either increased maternal or paternal age. The prevalence is estimated at 1 in 12, 000.

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