Angelman syndrome


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Angelman syndrome

[′aŋ·gəl·mən ‚sin‚drōm]
(medicine)
A genetic disorder that is caused by defects on the maternally derived chromosome 15, causing severe mental retardation, absence of speech, microcephaly, facial dysmorphism, seizures, neonatal hypotonia, ataxic movements, and inappropriate laughter.
References in periodicals archive ?
The Angelman Syndrome Foundation is to be applauded in having the vision to recognize the critical importance of basic research and in setting this research on a trajectory toward a cure.
This year it is not only the 50th anniversary of Angelman Syndrome being discovered and documented by Dr Angelman but it would have also been his 100th birthday.
A family from Te Atatu Peninsula said they were learning new ways to communicate with their son after attending a conference about Angelman syndrome in Australia.
Rachel Martin, chairwoman of Assert, whose 11-year-old son James has Angelman Syndrome, said: "There are no set rules with the condition and it can be difficult to give a full prognosis when young.
Then our health visitor, who had seen a child with Angelman syndrome before, mentioned it to his paediatrician and he was soon diagnosed.
Angelman Syndrome affects chromosome 15, leaving most sufferers unable to talk and with severe learning disabilities.
Prader-Willi syndrome (PWS, [4] OMIM 176270) and Angelman syndrome (AS; OMIM 105830) are the most common genetic disorders involving non-Mendelian inheritance in the form of genomic imprinting (6).
His son Kit, seven, has Angelman syndrome, a rare genetic disorder that causes speech impairment and learning difficulties.
Rankin is a veteran campaigner for the disabled - his seven-year-old son Kit has Angelman syndrome, a rare genetic disorder that leaves sufferers blind and unable to walk or talk.
The father of two also told of his delight that his oldest son, James, eight, is as healthy as he could possibly be and has been seizure-free for 24 months, despite suffering from Angelman Syndrome, a debilitating neuro-genetic condition.
The symposium and workshops covered a range of research on neurological disorders, including: neural connectivity; dysfunction of proteins at synapses, which may interfere with the passing of electrical or chemical signals within the nervous system; signaling networks that regulate synaptic development and cognitive function; research updates on Angelman syndrome, autism, Rett syndrome and tuberous sclerosis complex or TSC; and the identification of new research paths and priorities for advancing promising discoveries with translational potential.
The purpose of the following study was to solicit input from parents of children with Angelman syndrome (AS) regarding the schooling and education of their children.