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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.


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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. Bennett Machanic
Board Certified
46 years in practice
47M 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.


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. Bennett Machanic
Board Certified
46 years in practice
47M people helped
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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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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. Bennett Machanic
Board Certified
46 years in practice
47M people helped
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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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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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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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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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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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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. Bennett Machanic
Board Certified, Neurology
46 years in practice
47M people helped
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