Down syndrome genetic disorder of cognitive
Causes of down syndrome
However, as with the segmental aneusomies, there is a proliferation of Down's syndrome critical region DSCR genes; as yet no definitive evidence of their role in intellectual disability has been provided. Seven genes and candidate genes have been identified in the PWS region, all of which appear to be brain specific. The sequence matches a conserved region subject to both alternative splicing and adenosine-to-inosine editing. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. As the embryo develops, the extra chromosome is replicated in every cell of the body. Children with specific learning and development difficulties may be eligible for educational support, either in a mainstream or specialized school. A healthcare professional can also diagnose Down syndrome after a baby is born by inspecting their physical characteristics, blood, and tissue. By contrast, in PWS, the MR may be only mild; there is a characteristic facial appearance and a specific behavioral abnormality, ie, hyperphagia resulting in severe obesity. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. TRUTH: Though people with Down syndrome are at an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, and thyroid conditions, advances in health care and treatment of these conditions have allowed for most individuals with Down syndrome to lead healthy lives. Triple screen or quadruple screen: At 15—18 weeks, this measures the quantities of various substances in the mother's blood. Some choose to date, maintain ongoing relationships and marry. Remarkably, mutations in RSK2 give rise to nonsyndromic MR: patients in an XLMR family with neither facial, digital, nor skeletal anomalies compatible with CLS, but with mild MR, have been found to have a mutation in exon 14 of the gene, resulting in a conservative amino acid change. For centuries, people with Down syndrome have been alluded to in art, literature and science.
Most people with Down syndrome have cognitive delays that are mild to moderate. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm — although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.
It might appear that genetic lesions are directly responsible for intellectual disability more commonly in nonsyndromic than in syndromic conditions, but it should be borne in mind that, without an understanding of the pathogenesis, this is only an assumption. However, these deficits are an increasing focus of research.
Like anybody else, people with Down syndrome want to have a job where their work will be valued. In general, this distinction is reflected in the division of MR into syndromic and nonsyndromic conditions.
Genetic counseling can determine the origin of translocation.
These data can be used to design new experiments and interpret information for prediction of additional targets for effective drug treatments.
based on 22 review