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Doctor insights on: Angelman Syndrome Ultrasound Markers

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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

Dr. Michael Gabor
2,271 Doctors shared insights

Sonogram (Definition)

An ultraound, also known as a sonogram, is a painless and relatively inexpensive imaging test that utilizes sound waves instead of ionizing radiation. There are no side effects. Ultrasound can give us two-dimensional, and in some applications three-dimensional, images of structures and organs in virtually any part of the body. In addition to diagnostic uses, such as evaluating abnormalities in the abdomen, pelvis, and breast, ultrasounds are commonly used to guide needle and catheter placement in a variety of surgical ...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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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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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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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 is the probability of inheriting angelman syndrome?

What is the probability of inheriting angelman syndrome?

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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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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Hello docs, is angelman syndrome inherited or a disorder?

Hello docs, is angelman syndrome inherited or a disorder?

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, . ...Read more

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What is the difference between Angelman syndrome and autism?

What is the difference between Angelman syndrome and autism?

Angelman Syndrome =: intellectual disability, puppet-like, jerky movements, hand-flapping, laughter outbursts, sociability, & 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 & reciprocity + their stereotypical movements, warranting additional diagnosis of Autistic Spectrum Disorder. ...Read more

Dr. Alan Ali Dr. Ali
2 doctors agreed:
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What is the difference between Angelman syndrome and Williams syndrome?

Dr. Alan Ali Dr. Ali
2 doctors agreed:
What is the difference between Angelman syndrome and Williams syndrome?

Williams/Angelman: Williams show distinct facial features, Cardiovascular abnormalities, Hypercalcemia & Hyperactivity.
Angelman show severe intellectual impairments, Seizures, Ataxia, Speech impairment.
Both are rare genetic diseases involving Chromosomal abnormalities (Chromosome 15 in Angelman, 7 in Williams). ...Read more

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What is the difference between Angelman syndrome and Prader-Willi syndrome?

What is the difference between Angelman syndrome and Prader-Willi syndrome?

Angelman vs. Prader: Prader-Willi and Angelman syndromes are the two genetic disorders of the 15q11 chromosomal region. People with Prader-Willi inherited the abnormal chromosome from father, while those with Angelman syndrome inherited from mother. ...Read more

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What is it like to have angelman syndrome? Is it a new mutation in each case?

What is it like to have angelman syndrome? Is it a new mutation in each case?

Almost always NM: The challenges of angelman syndrome are seizures, microcephaly (small head), characteristic facial features, intellectual disability with severe language impairment, unsteady gait, happy demeanor with frequent laughter, hyperactivity & more. In a few cases there's an alteration on mom's chromosome 15. Usually it's from a genetic accident. See www. Angelman. Org. ...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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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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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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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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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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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

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What is the definition or description of: Angelman syndrome?

What is the definition or description of: Angelman syndrome?

Genetic disorder: Angelman Syndrome is a rare genetic neurological disorder with severe developmental delays and learning disabilities, minimal (if any) speech, and ataxia with a happy disposition and unprovoked episodes of laughter and smiling. It is associated with a mutation in the UBE3A gene. ...Read more

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Please tell me if angelman syndrome is inherited or a disorder?

Please tell me if angelman syndrome is inherited or a disorder?

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 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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How is angelman syndrome treated? And how is this disorder diagnosed?

How is angelman syndrome treated? And how is this disorder diagnosed?

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 more

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Is angelman syndrome dominant or recessive?

Is angelman syndrome dominant or recessive?

Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation. ...Read more

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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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What are the signs and symptoms of angelman syndrome?

What are the signs and symptoms of angelman syndrome?

Angelman: Happy kids, pleasant disposition, developmental and speech delay, seizures and ataxia (uncoordinated)walking. ...Read more

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Why is 18 month old being tested for angelman syndrome?

Why is 18 month old being tested for 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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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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How do you know if your son or daughter has angelman syndrome?

How do you know if your son or daughter has angelman syndrome?

See below: Hypotonia, unsteady gait, bouts of uncontrollable inappropriate laughter, and intellectual disability are typical symptoms. Correct diagnosis requires genetic testing. ...Read more

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What is the difference between Angelman syndrome and Down syndrome?

What is the difference between Angelman syndrome and Down syndrome?

Neurodevelopmental: Disorders like AS & DS that cause Intellectual Disability differ in etiology, signs & symptoms & Neurobehavioral profiles including motor, language, cognitive & social/ adaptive skills. The genetic accident that causes DS gives a fetus 3 copies of Chromosome 21; a fetus with AS may lack a maternal UBE3A gene, have 2 copies of the gene from dad, or only dad's gene is active at Chr.15 q11.2-q13. ...Read more

Dr. Neeta Jain
67 Doctors shared insights

Angelman Syndrome (Definition)

A genetic disorder that causes mental retardation, movement problems, and seizures. Children with Angelman syndrome typically laugh a lot and ...Read more


Marker (Definition)

A "marker" is a protein or enzyme that can represent a disease process. Some markers are specific for a particular disease, while ...Read more