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Doctor insights on: Angelman Syndrome

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Dr. Neeta Jain
67 Doctors shared insights

Angelman Syndrome (Overview)

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

Dr. Neeta Jain
67 Doctors shared insights

Angelman Syndrome (Overview)

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 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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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Monitor your weight and review your diet daily
daily
Blend exercises that make sense into your daily routine
daily
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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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Living with Down Syndrome (Checklist)

Enroll in an early intervention program
Once
Get help from local and national support groups
Once
Consider getting help from mental health professionals
Once
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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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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your primary care physician or gastroenterologist if symptoms persist
Once
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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?

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

Yes!: Angelman's syndrome is a genetic disorder. Children with this condition need to start supportive therapies early to help with language and other delays. It is also important for parents of a child with this condition to meet with a genetic counselor to determine the risk of having another child with the same condition. ...Read more

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Managing Carpal Tunnel Syndrome (Checklist)

Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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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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What is angelman syndrome?

What is angelman syndrome?

Angelman syndrome: It is a Neuro-genetic disorder resulting from abnormality of genes on Chromosome 15. ...Read more

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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Practice stress management and mindfulness
2x day
Do not be afraid to ask for feedback
3x day
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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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Angelman syndrome information needed?

Angelman: The answer can be found here:
http://www. Ninds. Nih. Gov/disorders/angelman/angelman. Htm. ...Read more

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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check your cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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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 symptoms include what?

Angelman syndrome symptoms include what?

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. ...Read more

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Living with Chronic Fatigue Syndrome (CFIDS) (Checklist)

Don't overdo it when you have more energy than usual
Once
Try slow and steady movement like qigong, tai chi, or yoga
Once
Consider natural medical alternatives such as dipsacus
Once
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What sort of problem is angelman syndrome?

What sort of problem is angelman syndrome?

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. ...Read more

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How exactly is angelman syndrome passed on?

How exactly is angelman syndrome passed on?

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

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What are the symptoms of angelman syndrome?

What are the symptoms of angelman syndrome?

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. ...Read more

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Best way to get help for angelman syndrome?

Best way to get help for angelman syndrome?

For your questions: Www. Angelman. Org website has a page for you to fill in your demographics and the specific genetic abnormality that caused your child's angelman syndrome. The angelman syndrome cinic at mass general in boston will also answer parents' questions.617-726-6540. ...Read more

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Is the testing for angelman syndrome painful?

Is the testing for angelman syndrome painful?

No: The diagnosis of angelman syndrome requires a dna sample from blood, amniotic fluid cells or a cvs sample. ...Read more

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Did any famous people have angelman syndrome?

Did any famous people have angelman syndrome?

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. ...Read more

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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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What is the population affected by angelman syndrome?

What is the population affected by angelman syndrome?

Angelman s.: Newborns with genetic abnormality involving chromosome #15q (partial deletion of short piece of that chromosome). ...Read more

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What is a way to detect a carrier of angelman syndrome?

What is a way to detect a carrier of angelman syndrome?

Angelman Syndrome: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their families. ...Read more