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Conditions comorbid to autism. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that begins in early childhood, persists throughout adulthood, and affects two crucial areas of development: social communication and restricted, repetitive patterns of behavior. [1] There are many conditions comorbid to autism spectrum disorder, such ...
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.
Diagnosis of autism. The diagnosis of autism is based on a person's reported and directly observed behavior. [1] There are no known biomarkers for autism spectrum conditions that allow for a conclusive diagnosis. [2] In most cases, diagnostic criteria codified in the World Health Organization's International Classification of Diseases (ICD) or ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental 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, flexible fingers, and ...
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3][4]
Evidence for a genetic link is that AS tends to run in families where more family members have limited behavioral symptoms similar to AS (for example, some problems with social interaction, or with language and reading skills). [8] Most behavioral genetic research suggests that all autism spectrum disorders have shared genetic mechanisms. [19]
A wide variety of postnatal contributors to autism have been proposed, including gastrointestinal or immune system abnormalities, allergies, and exposure of children to drugs, infection, certain foods, or heavy metals. The evidence for these risk factors is anecdotal and has not been confirmed by reliable studies.
1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities, including developmental delay, dysmorphic traits, autism spectrum disorder, and congenital cardiac defects. [1] Common facial features include frontal bossing, hypertelorism, and macrocephaly.