Fragile X syndrome ...test all children presenting with developmental delay, intellectual disability or autism for fragile X syndrome, although only one to three percent of children tested are diagnosed with the syndrome. Relevance...
Angelman syndrome ...deletions in the 15q11-q13 region both cause Angelman syndrome. While the loss of UBE3A causes Angelman syndrome, duplications within chromosomal regions that include UBE3A have been associated with autism3,4,5,6. Thus,...
Williams syndrome ...controls. Language: Prevailing wisdom says that Williams syndrome severely diminishes spatial and mathematical reasoning, while leaving language skills intact. A 2010 study, however, reports that children with the syndrome do...
Asperger syndrome ...research shows little difference between individuals with high-functioning autism and Asperger’s syndrome4,5,6. As a result, Asperger syndrome was folded into the autism spectrum in the DSM-5, the latest edition of...
Rett syndrome Features Rett syndrome affects approximately one in 10,000 female births and was first recognized by Austrian physician Andreas Rett in 1966. Symptom onset is delayed, as toddlers may have learned...
Chromosome 7 ...syndrome: Deletion of the 7q11.2 region leads to the autism-related disorder, Williams syndrome. Children with Williams syndrome have a range of cognitive symptoms, including a happy and highly social demeanor,...
UBE3A ...syndrome and possibly autism. Relevance to autism: Mutations or deletions within or surrounding UBE3A have been associated with the genetic disorder Angelman syndrome19. The most common cause of Angelman syndrome...
Epilepsy ...example fragile X syndrome and Rett syndrome. Consequently, the number of individuals with epilepsy who also have autism ranges widely, from 5 to 46 percent1. Though males are four times...
Copy number variation ...symptoms that resemble schizophrenia. 15q11.13, deletion of which is associated with autism and epilepsy7 and duplication to Angelman syndrome. 7q11.23 deletion, which is associated with Williams syndrome 22q13 deletion, which...
Neurotransmitters ...and inhibition is thought to contribute to the pathophysiology of autism spectrum disorders6,7. The FMRP protein, which is lacking in fragile X syndrome, regulates the metabotropic glutamate receptor 5 (mGLuR5)....