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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1993-8-31
|
| pubmed:abstractText |
Early screening studies of autistic individuals suggested that up to one-quarter of cases were associated with the Fragile X anomaly. Recent studies find that the usual behavioural phenotype of the Fragile X anomaly is distinct from autism as usually defined, and that a variety of methodological factors contribute to the variability of the prevalence estimates. We report the prevalence of the Fragile X anomaly, using strict cytogenetic criteria, in a large sample of autistic individuals whose diagnosis was confirmed using a standardised diagnostic instrument. The anomaly was detected in 1.6% of tested autistic individuals from a combined sample of: autistic twins; clinic attenders; and, individuals from families multiplex for autism or related cognitive phenotypes. The anomaly was not detected in greater than 2.5% of any of the constituent samples and accounted for only a small proportion of the genetic influences amongst concordant twins and multiplex families. The anomaly was detected in 5% of the 40 tested autistic females, confirming reports that the prevalence of the anomaly is similar amongst autistic individuals of both sexes.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0021-9630
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
34
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
673-88
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8340438-Adult,
pubmed-meshheading:8340438-Autistic Disorder,
pubmed-meshheading:8340438-Child,
pubmed-meshheading:8340438-Child, Preschool,
pubmed-meshheading:8340438-Chromosome Aberrations,
pubmed-meshheading:8340438-Cognition,
pubmed-meshheading:8340438-Comorbidity,
pubmed-meshheading:8340438-Diseases in Twins,
pubmed-meshheading:8340438-Female,
pubmed-meshheading:8340438-Fragile X Syndrome,
pubmed-meshheading:8340438-Humans,
pubmed-meshheading:8340438-Infant,
pubmed-meshheading:8340438-Intellectual Disability,
pubmed-meshheading:8340438-Intelligence Tests,
pubmed-meshheading:8340438-Interpersonal Relations,
pubmed-meshheading:8340438-Karyotyping,
pubmed-meshheading:8340438-Male,
pubmed-meshheading:8340438-Middle Aged,
pubmed-meshheading:8340438-Prevalence,
pubmed-meshheading:8340438-Sex Factors
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Prevalence of the fragile X anomaly amongst autistic twins and singletons.
|
| pubmed:affiliation |
MRC Child Psychiatry Unit, Institute of Psychiatry, London, U.K.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|