Autism, Susceptibility To, 3; Auts3

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.See also chromosome 13q14 deletion syndrome (OMIM ) in which retinoblastoma and mental retardation are features.

Clinical Features

• Intellectual disability
• Seizures
• Delayed speech and language development
• Atrial septal defect
• Autism
• EEG abnormality
• Autistic behavior
• Stereotypy
• Ketonuria
• Retinoblastoma

And another 6 symptoms. If you need more information about this disease we can help you.