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Doctor insights on: Angelman Syndrome

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Dr. Neeta Jain
66 doctors shared insights

Angelman Syndrome (Overview)

Angelman syndrome is a genetic disorder that causes mental retardation, movement problems, and seizures. Children with Angelman syndrome typically laugh a lot and have a happy demeanor.


Dr. Mark Diamond
Board Certified, Pediatrics
40 years in practice
16M people helped
1

1
What causes angelman syndrome?

What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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Dr. Eric Weisman
Board Certified
30 years in practice
4M people helped
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Dr. Neeta Jain
66 doctors shared insights

Angelman Syndrome (Overview)

Angelman syndrome is a genetic disorder that causes mental retardation, movement problems, and seizures. Children with Angelman syndrome typically laugh a lot and have a happy demeanor.


Dr. Alan Ali
Board Certified, Psychiatry
26 years in practice
176M people helped
2

2
What are common symptoms of angelman syndrome?

What are common symptoms of angelman syndrome?

Angelman syndrome: Severe developmental delays, sleep disturbance, jerky movements, seizures, intellectual deficits, & a happy demeanour. ...Read more

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Dr. Eric Weisman
Board Certified
30 years in practice
4M people helped
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Dr. Walter Husar
Board Certified, Neurology
27 years in practice
3M people helped
3

3
What are signs and symptoms of angelman syndrome?

What are signs and symptoms of angelman syndrome?

ANGELMAN SYNDROME: Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Most affected children also have recurrent seizures and a small head size. Delayed development becomes noticeable by the age of 6 and other S/S appear. ...Read more

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Dr. Scott McLean
Board Certified, Clinical Genetics
29 years in practice
206K people helped
4

4
Does the doctor need to do to tests to be sure if the diagnosis is angelman syndrome?

Does the doctor need to do to tests to be sure if the diagnosis is angelman syndrome?

Genetic tests help: But tests alone will not confirm the diagnosis in 1 out of 10 children with angelman syndrome. Common signs are very delayed development, speech impairment, and trouble with coordination. A specific and complex checklist is the standard way to establish the diagnosis. Anywhere from 1 to 6 genetic tests are used to confirm the diagnosis and tell us if the condition might happen again in the family. ...Read more

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Dr. Eric Weisman
Board Certified
30 years in practice
4M people helped
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Dr. Mohammad Homsi
Board Certified, Neurology
27 years in practice
325K people helped
5

5
How to know what is angelman syndrome?

How to know what is angelman syndrome?

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

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Dr. Maulik Shah
Board Certified, Clinical Genetics
18 years in practice
217K people helped
6

6
Angelman syndrome, what are the latest developments to treat this?

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

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. ...Read more

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Dr. Johanna Fricke
Board Certified, Developmental and Behavioral Pediatrics
44 years in practice
16M people helped
7

7
Are there official recommendations for treating angelman syndrome?

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 more

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Dr. Elizabeth Finley-Belgrad
Board Certified, Child Psychiatry
28 years in practice
731K people helped
8

8
Are there any treatments for angelman's syndrome that help early on?

Nothing specific: As far as I am aware there is no specific rx for anglemans s. Good eval will reveal what symptoms or problems are present and adequate support and guidance, finding optimal educational support, treating sx that cause distress. Appropriate expectations for child's abilities-really no different from any other challenged child. Full eval and comprehensive intervention. ...Read more

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Dr. Jonathan Dissin
Board Certified, Neurology
33 years in practice
533K people helped
9

9
Is there anything you can do to prevent angelman syndrome?

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. ...Read more

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Dr. Mark Diamond
Board Certified, Pediatrics
40 years in practice
16M people helped
10

10
What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

Get help from a doctor now ›

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Dr. Eric Weisman
Board Certified, Neurology
30 years in practice
4M people helped
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