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Case study angelman syndrome

Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to characterize changes over time in the natural history of this syndrome in a large population. We reviewed the medical records of the 53 patients who were born prior to and seen at the Angelman Syndrome Clinic at Massachusetts General Hospital to assess neurological, sleep, behavioral, gastrointestinal, orthopedic, and ophthalmologic functioning. The average age of this cohort was 24 years. The results of this study suggest that the prevalence of active seizures may decrease in adulthood but that the prevalence of movement disorders such as tremor and nonepileptic myoclonus may increase. Anxiety increases significantly as individuals age while defiant behaviors appear to decrease.

Angelman Syndrome : The Happy Puppet Syndrome

Famous People with Angelman Syndrome - HRF

A disease is considered rare if it affects less than 5 in 10, of the general population. There are at least 7, known rare diseases and around five new rare diseases are described in the medical literature every week. Diseases with such low prevalence present a number of challenges to healthcare practitioners, public health bodies and biomedical researchers. There is often a lack of fundamental knowledge concerning the epidemiology of the disease, and the patient populations are usually very limited, heterogeneous and spread over large geographical distances, making studies logistically difficult and expensive. Limited patient numbers represent a considerable disincentive for pharmaceutical companies to invest in new drug research and development, meaning that despite the high burden of rare disease on individual patients, treatment options are often limited.

Angelman syndrome

Based on the case study of a boy who has a rare defect in the UBE3A gene that went undetected using the usual genetic tests for Angelman Syndrome, a team of London researchers has recommended special analyses to detect the mutation. AS is caused by a variety of mutations defects in a gene called UBE3A , which usually are detected using genetic tests. But small deletions of the gene have been rarely described, and may be missed by conventional tests. The authors report the case of a 4-year-old boy suspected of having AS, but not confirmed by standard tests that seek to identify gene mutations. The boy had developmental delay with severe speech impairment, microcephaly a small-sized brain , and happy disposition, but was able to walk independently in his third year.
Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support or life-changing treatments. Testing and diagnosis of AS is done through a medical doctor. Below are the tests that help determine whether AS is present. All of these tests are done through a blood test and the final results of genetic testing can take a couple weeks or more.

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