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The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is ...
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 ...
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]
17q12 microdeletion syndrome is an autosomal dominant disorder, where one copy of the relevant mutation is enough to cause the condition. Most cases are de novo, or spontaneous mutations that do not occur in the proband's parents; [10] approximately 75% are de novo, while 25% are inherited. [4]
Medical genetics. 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]
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed or not, depending on whether they are inherited from the female or male parent. [1][2][3][4][5] Genes can also be partially imprinted. Partial imprinting occurs when alleles from both parents are differently expressed rather than complete expression and complete ...
Epilepsy is present in the majority of cases, with approximately 80-98% of patients affected by seizures. [8] Truncal hypotonia and clumsy or ataxic gait are typical. [5] Behavioral and sleep problems are also common. [9] [10] Approximately 50% of patients receive a diagnosis of autism spectrum disorder. [8] Some patients have significant ...
ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. [1][2] The hallmark features of the syndrome are intellectual disability, global developmental delays, global motor planning delays, and autism ...
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