Victor A. McKusick, OMIM, Johns Hopkins University, November 1, 2007
[for Professionals mainly]
Autism, Infantile ... Gene Map Locus: 7q
There is evidence that several genes
may be involved in the causation and pathogenesis of autism. One of these genes
may be located on 7q31 ... Autism, the prototypical pervasive development
disorder (PDD), is characterized by impairments in reciprocal social interaction
and communication, restricted and stereotyped patterns of interests and
activities, and the presence of developmental abnormalities by 3 years of age
(Bailey et al., 1996). In his pioneer description of infantile autism, Kanner
(1943) noted that in most cases the child's behavior was abnormal from early
infancy. On this basis, he suggested the presence of an inborn, presumably
genetic, defect. Autism has a population prevalence of approximately 4 in
10,000. A strong genetic component in autism is indicated by an increased
concordance rate in monozygotic (MZ) vs dizygotic (DZ) twins (Bailey et al.,
1995) and a risk to sibs of idiopathic cases that is 75 times greater than the
general population prevalence (Bolton et al., 1994) ... no recorded cases of an
autistic child having an overtly autistic parent, ... it is unusual to find more
than 1 autistic child in a sibship ... MZ twins showed 36% concordance, ... DZ
twins showed no concordance ... Ritvo et al. (1985) found a concordance rate for
autism of 23.5% in dizygotic twins and 95.7% in monozygotic twins ...
epidemiologic study of same-sex autistic twins ... 60% of monozygotic pairs were
concordant for autism vs no dizygotic pairs ... In a multicenter study in
Sweden, Blomquist et al. (1985) found the fragile X in 13 of 83 boys (16%) with
infantile autism but in none of 19 girls with infantile autism ... Lopreiato and
Wulfsberg (1992) described a complex chromosomal rearrangement in a 6.5-year-old
boy ... involved chromosomes 1, 7 and 21: ... developmental disorder with onset
by 3 years of age. It is defined as a triad of social relating and communication
impairments, with restricted, repetitive, or stereotyped behaviors ... male to
female ratio of 4 to 1 (mental retardation is said to be present in
approximately 75% of cases, seizures in 15 to 30% of cases, and
electroencephalographic abnormalities in 20 to 50% of cases). Kanner (1943)
defined autism as 'an innate inability to form the usual, biologically provided
affective contact with people.' ... An International Molecular Genetic Study of
Autism Consortium (1998) conducted a 2-stage genome search for susceptibility
loci in autism on 87 affected sib pairs plus 12 non-sib affected relative-pairs,
from a total of 99 families ... A region on 7q was the most significant ...
Another potential susceptibility region overlapped with the 15q11-q13 region ...
Vincent et al. (2000) identified an autistic individual carrying a
translocation, t(7;13)(q31.3;q21), with the chromosome 7 breakpoint located in
the region of 7q in which a susceptibility locus for autism had been postulated
... Folstein and Mankoski (2000) suggested a relationship between autism and
specific language impairment (SLI) because genetic studies in each disorder
point to a locus on 7q31; see speech-language disorder-1 (SPCH1; 602081).
National Institute of Neurological Disorders and Stroke, December 12, 2007
AS is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS).
DSM-IV Diagnostic Criteria for Asperger's Disorder
A. Qualitative impairment in social interaction, as manifested by at least two of the following: 1) marked impairment ... 2) failure to develop ... 3) a lack of spontaneous ... 4) lack of social ... B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one off the following: 1) encompassing preoccupation ... 2) apparently inflexible ... 3) stereotyped and repetitive ... 4) persistent preoccupation ... Gillberg's Criteria for Asperger's Disorder 1. Severe impairment in reciprocal social interaction (at least two of the following) a) inability to interact with peers b) lack of desire to interact with peers c) lack of appreciation of social cues d) socially and emotionally inappropriate behavior 2. All-absorbing narrow interest (at least one of the following) a) exclusion of other activities b) repetitive adherence c) more rote than meaning 3. Imposition of routines and interests (at least one of the following) a) on self, in aspects of life ...
Education and Asperger's Syndrome
Richard L. Simpson, Ed.D. was one of the pioneers in the education of autism and Asperger's syndrome. He presented in his work at numerous conferences and workshops, and he was published numerous articles and books in this area. Dr. Simpson co-wrote a book with Brenda Myles entitled Asperger's Syndrome in 1998. He was also the Senior Editor of the journal, Focus on Autism and Other Developmental Disabilities. He was a Professor Emeritus in Special Education at the University of Kansas Medical Center in Kansas City, Kansas. Stephen M. Edelson, Ph.D. (SME) interviewed Dr. Simpson (RLS) on November 23, 1998. Their conversation is documented below.
AUTISMO Y SÍNDROME DE ASPERGER: DESDE EL PUNTO DE VISTA
Francisco José Rodríguez Muñoz, Universidad de Almería
Este repertorio bibliográfico pretende ser una versión actualizada de
algunos trabajos aparecidos entre 2000 y 2007 que abordan los trastornos
del espectro autista y el síndrome de Asperger desde la perspectiva
comunicativa. La colaboración de la lingüística con otras ciencias es un
hecho indiscutible en nuestros días. Por ello, los estudios recogidos no
corresponden exclusivamente al ámbito lingüístico, sino que a menudo
proceden de lugares colindantes con otras disciplinas ...
USEFUL LINKS RELATED TO AUTISM:
Last Updated: 2023/01/18