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Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...
Bipolar affective disorder (BPAD), [ 1 ] bipolar illness, manic depression, manic depressive disorder, manic–depressive illness (historical), [ 2 ] manic–depressive psychosis, circular insanity (historical), [ 2 ] bipolar disease [ 3 ] Bipolar disorder is characterized by episodes of depression and hypomania or mania. Specialty.
Usual onset. Infancy. Management. Physical, occupational and speech therapy. DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (the WAC gene). [1] The condition was first described in 2015 in six individuals. [2]
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip.
Bipolar disorder in children, or pediatric bipolar disorder (PBD), is a rare mental disorder in children and adolescents. The diagnosis of bipolar disorder in children has been heavily debated for many reasons including the potential harmful effects of adult bipolar medication use for children. PBD is similar to bipolar disorder (BD) in adults ...
Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Most parents report that the onset of autism features appear within the first or second year of life. [11][12] This course of development is fairly gradual, in that parents typically report concerns in development over the first two years of life and diagnosis can be made around 3–4 years of age. [9] Overt features gradually begin after the ...
Sanfilippo syndrome. Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).