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Doctor insights on: Are There Official Recommendations For Treating Angelman Syndrome

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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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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


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Are there official recommendations for treating churg-strauss syndrome?

Are there official recommendations for treating churg-strauss syndrome?

Yes: You need to see an asthma or pulmonary specialist for specific treatment. Every patient is different and need to be treated individually. What works for one patient might not work for another. This disorder can be well-controlled with simple therapy but the occasional exacerbation does happen and needs immediate treatment. ...Read more

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Are there official recommendations for treating ebstein anomaly?

Are there official recommendations for treating ebstein anomaly?

Cardilogist: I am not a cardiologist, so i will like to see some input from a cardiologist regarding this. ...Read more

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Are there treatment guidelines for ehlers-danlos syndrome?

Are there treatment guidelines for ehlers-danlos syndrome?

Treat symptoms: While there is no cure for this inherited disorder, it is worth determining which of the 6 types the affected person has. This may guide the needs for cardiac evaluation for valvular or vascular problems, eye exams for vision problem such as lens dislocation, or high-risk obstetric care. ...Read more

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Are there official recommendations for treating cartilage disorders?

Are there official recommendations for treating cartilage disorders?

Let me try to help: There are of advances in treating cartilage disorders, some already been used (medications, special exercise, agua ) cartilage grafts , from the person himself or from donors. Check out your condition and seek consultation to have your problem addressed. Good luck, thanks. ...Read more

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Are there official recommendations for treating bullying?

Are there official recommendations for treating bullying?

There Are None: This is a complex behavior & we must start by trying to understand where it is coming from. I presume you are talking about a child who is bullying another. I would want to know if that child is the subject of some mistreatment. Does s/he live in a chaotic household? Do his/her parents condone aggressive behaviors towards others? As w/many behavioral issues, we must strive to understand first. ...Read more

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Are there official recommendations for treating amniotic infection?

Are there official recommendations for treating amniotic infection?

Usually delivery: An amniotic infection will most often result in spontaneous labor and delivery. When labor does not happen spontaneouly, the usual management is to induce labor or proceed with a cesarean delivery, if cesarean delivery is indicated. In either case (labor or cesarean), antibiotics would be initiated and very likely continued well after delivery for both the mom and the baby. ...Read more

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Are there official recommendations for treating brain bleeding?

Are there official recommendations for treating brain bleeding?

Yes: There are many different kinds of brain bleeding and there are guidelines out there for many of them. The american heart/stroke association has guidelines for intracerebral hemorrhage and subarachnoid hemorrhage. The neurocritical care society also has subarachnoid hemorrhage guidelines. The brain trauma foundation has guidelines for traumatic brain bleeds. Do you have a specific question? ...Read more

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Are there official recommendations for treating erythema multiforme?

Are there official recommendations for treating erythema multiforme?

Evaluate cause: Ruling out possible immunologic causes, including autoimmune, infection, or allergic reactions is first step, before initiating therapy such as prednisone. ...Read more

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Are there treatment guidelines for myelodysplastic syndromes?

Are there treatment guidelines for myelodysplastic syndromes?

Yes: Nccn, a nationaly recognized organization publishes guidlines for the treatments of all malignancies including mds. ...Read more

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Are there official recommendations for treating discoid lupus?

Are there official recommendations for treating discoid lupus?

Yes: You already know to stay out of the sun / use sunblock / broad brim hat. You probably have a fluorinated glucocorticoid -- a little can go a long way. Some physicians will try oral antimalarials for discoid lupus. ...Read more

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Are there official recommendations for treating gynecomastia?

Are there official recommendations for treating gynecomastia?

Depends on the cause: Gynecomastia can be caused by many things, including medication side effects, hormonal imbalance, street drugs and alcohol, liver failure and cirrhosis, kidney failure, hyperthyroidism, tumors (pituitary, adrenal, testes), hypogonadism (low testosterone), malnutrition...The recommendations depend on the cause. ...Read more

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Are there official recommendations for treating cystic fibrosis?

Are there official recommendations for treating cystic fibrosis?

CF center: The usual suggestion for those with CF is to get treated at a CF center (a center accredited by the CF foundation) that has a multidisciplinary clinic. Nutrition, exercise, pulmonary toilet, and medications vary by age, lung function, and other problems and should be individualized. http://www.cff.org/livingwithcf/carecenternetwork/cffoundation-accreditedcarecenters/ can help you find one. ...Read more

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What are current treatments for edwards syndrome?

What are current treatments for edwards syndrome?

Much patience: Treatment for a child with edwards syndrome is very difficult. It calls for a lot of patience as these babies are severely debilitated. ...Read more

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Are there official recommendations for treating bacterial meningitis?

Are there official recommendations for treating bacterial meningitis?

Yes: They vary by age of patient and severity of illness, but they always include antibiotics, almost always a spinal tap, and sometimes steroids. ...Read more

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Are there official recommendations for treating lung abscess?

Are there official recommendations for treating lung abscess?

Drain,antibiotics: The treatment af any abcess regardless of location is drainage and IV antibiotics. Lung abcess sometimes drain into the tracheobronchial tree, sometimes spontaneously drain into the pleura thus causing empyema others require surgical drainage. This is a very serious complication of pneumonia. See your thoracic surgeon. ...Read more

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Are there official recommendations for treating dislocated joint?

Are there official recommendations for treating dislocated joint?

Reduction: Depends on the invovled joint. Reduction of the dislocated joint is an emergency. Seek medical or er advice. After reduction, the treatment options can varying based on the involved joint. These can range from immobilization to physical therapy to surgery. The goal is to minimize the risk of recurrence and regain near full joint function. ...Read more

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Are there official recommendations for treating bladder infections?

Are there official recommendations for treating bladder infections?

Antibiotics / fluids: The usual treatment for a bladder infection is antibiotics (most often oral) and increased oral fluid intake. A urine culture is often obtained before initiating antibiotics. When the culture result is available, it can confirm the infection and confirm that the antibiotic prescribed is appropriate - or guide the change to an effective antibiotic for the particular bacteria causing the infection. ...Read more

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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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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 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 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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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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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?

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

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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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I'm curious. What symptoms go along with angelman syndrome?

I'm curious. What symptoms go along with angelman syndrome?

Developmental delay: Described in 1965, infants are normal at birth. There is little or no development of speech the child is usually happy & smiling. There is a large mouth with a protruding tongue, hyperactivity is common. Gait is wide based and ataxic with tremulous movements. Pubertal development is delayed, adult height is less than the 3rd percentile. It is associated with a deletion on chromosome 15. ...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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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