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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]
There are many conditions comorbid to autism spectrum disorder such as attention-deficit hyperactivity disorder and epilepsy . In medicine, comorbidity is the presence of one or more additional conditions co-occurring with the primary one, or the effect of such additional disorders. About 10–15% of autism cases have an identifiable Mendelian ...
Discrimination. Discrimination against autistic people, also known as Autistiphobia, involves any form of discrimination, persecution, or oppression against people who are autistic. Discrimination against autistic people is a form of ableism. [ 1]
1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome ( FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3] [4] Physical features may include a long and narrow face, large ears ...
17q12 microdeletion syndrome. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome.
Genetic factors may be the most significant cause of autism. Early studies of twins had estimated heritability to be over 90%, meaning that genetics explains over 90% of whether a child will develop autism. [1] This may be an overestimation, as later twin studies estimate the heritability at between 60 and 90%.
from birth. Pervasive developmental disorder not otherwise specified ( PDD-NOS) [1] is a historic psychiatric diagnosis first defined in 1980 that has since been incorporated into autism spectrum disorder in the DSM-5 (2013). According to the earlier DSM-IV, PDD-NOS referred to "mild or severe pervasive deficits in the development of reciprocal ...
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an ...