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Clinically significant symptoms of these two conditions commonly co-occur, and children with both sets of symptoms may respond poorly to standard ADHD treatments. Individuals with autism spectrum disorder may benefit from additional types of medications. [13] [14] The term AuDHD is sometimes used for those with both autism and ADHD.
16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion. The rate of having ADHD is higher than in people with deletion. [1] [2]
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q.
Most psychiatric disorders are highly heritable; the estimated heritability for bipolar disorder, schizophrenia, and autism (80% or higher) is much higher than that of diseases like breast cancer and Parkinson disease. [1] Having a close family member affected by a mental illness is the largest known risk factor, to date. [6]
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]
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). [1] The duplication was first described as a case study in 1996. [2]
Identical twin studies put autism's heritability in a range between 36% and 95.7%, with concordance for a broader phenotype usually found at the higher end of the range. [28] Autism concordance in siblings and fraternal twins is anywhere between 0 and 23.5%. This is more likely 2–4% for classic autism and 10–20% for a broader spectrum.
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [ 12 ] [ 23 ] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [ 12 ]