September 10th 2018
Literature review: Angelman Syndrome
Angelman Syndrome is a genetic disorder that affects mainly a person’s nervous system. Angelman Syndrome is considered a ‘syndromic’ form of autism spectrum disorder. Some characteristic of this condition are delayed development, intellectual disability which means it’s harder for them to learn, speech impairment, and ataxia which is problems with balance and movement. Most affected children also have epilepsy and microcephaly meaning relatively small heads. Delayed development may become noticeable as early as 6 months old, and more common signs and symptoms usually appear in early childhood. Most cases of Angelman Syndrome are not inherited, they’re usually caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells, the egg and the sperm, or in early embryonic development. The main fear with Angelman Syndrome is the mothers think it’s their fault and they say “I did everything right” and they might have it’s just been a rare mutation carried by one of the child’s parents.
Children with Angelman Syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and have what’s called happy hand movements, which is quite common in many forms of autism. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, these symptoms seem to improve and get better over time. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures all throughout their lives. Adults with Angelman Syndrome have distinct facial features that are often described as ;coarse;, where they have larger facial features but their head is slightly smaller than normal. Other common features include unusually fair skin with light-colored hair and scoliosis which is an abnormal side-to-side curvature of the spine. The life expectancy of people with this condition appears to be nearly normal. However the disease is an incurable one.
Angelman Syndrome is usually diagnosed by a healthcare provider. If they are suspecting they will usually do a physical examination and check personal medical history along with the child’s family medical history along with a few lab tests like genetics testing. Molecular, chromosomal, and biochemical genetic testing could also be used to diagnose genetic disorders. Other laboratory tests that measure the levels of a particular substance in blood and urine can also help suggest a diagnosis. Angelman Syndrome isn’t impossible to live with nor is it completely life threatening, yes the child will have epilepsy but it could be so much worse. God thought that by giving a parent a child with AS was because they could handle the challenge and he needed beautifully happy kids in a world of such sadness.
The prognosis of a genetic condition depends a lot of different factors, such as the specific diagnosis and a person’s particular signs and symptoms. Sometimes the associated genetic change can also give clues to the prognosis. The course and outcome of a condition depends on the availability and effectiveness of treatment and management tactics. The prognosis of very rare diseases can be very difficult to predict because very little people who have the diseases are identified. Prognosis could also be difficult or near impossible to conclude if a person’s diagnosis is unknown. Those with Angelman Syndrome live a complete life, the disease doesn’t shorten their life it just challenges it a little.
The prognosis of a disease is based on probability, which means that it is likely but not certain that the disorder will follow a particular course. A healthcare provider is the best resource for information about the prognosis of a person’s specific genetic condition. He or she can assess the medical history and signs and symptoms to give their patient the most accurate estimate of your prognosis.
According to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, autism spectrum disorder (ASD) is defined by persistent deficits in social communication and social interaction, as well as by restricted, repetitive patterns of behavior, interests, or activities. Recent advances in genetic research indicate that there may be nearly 1000 genes that contribute to the susceptibility of developing ASD. (Neul) With all that said Angelman syndrome appears to be a tough thing to handle but from all the readings, parents are strong and are those kids superheros. The people affected are such a bright light, they don’t usually communicate a ton in the beginning which may lead to some frustrations but they still smile through it all, and that’s all anyone can ask for.
U.S. National Library of Medicine, Genetics Home Reference.
September 4th, 2018https://www.angelman.org/what-is-as/facts-about-angelman-syndrome/
Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M.Neurotherapeutics; New York Vol. 12, Iss. 3, (Jul 2015): 641-650. DOI:10.1007/s13311-015-0361-y https://search-proquest-com.proxy195.nclive.org/pubidlinkhandler/sng/pubtitle/Neurotherapeutics/$N/1476362/PagePdf/1693690662/fulltextPDF/F9C0B72C95444FAFPQ/1?accountid=14968
Therapeutic Advances in Autism and Other Neurodevelopmental Disorders
Neul, Jeffrey L; Sahin, Mustafa.Neurotherapeutics; New York Vol. 12, Iss. 3, (Jul 2015): 519-520.DOI:10.1007/s13311-015-0364-8
Angelman Syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
A. Bottani M.D.
W. P. Robinson
C. D. Delozier?Blanchet
M. A. Morris
HYPERLINK ;https://onlinelibrary.wiley.com/action/doSearch?ContribAuthorStored=Schinzel%2C+A; A. Schinzel
First published: 15 May 1994
Epilepsy in Angelman Syndrome: A questionnaire?based assessment of the natural history and current treatment options
Ronald L. Thibert
Kerry D. Conant
Eileen K. Braun
Rana R. Said
Mark P. Nespeca
HYPERLINK ;https://onlinelibrary.wiley.com/action/doSearch?ContribAuthorStored=Thiele%2C+Elizabeth+A; Elizabeth A. Thiele
First published: 23 October 2009
https://doi.org/10.1111/j.1528-1167.2009.02108.x HYPERLINK ;https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1528-1167.2009.02108.x#citedby-section;
Address correspondence to Dr. Elizabeth Thiele MD, PhD, Pediatric Epilepsy Program, Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street No. 340, Boston, MA 02114, U.S.A