Linked Life Data

9809261

Source:http://linkedlifedata.com/resource/pubmed/id/9809261

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1999-2-5
pubmed:abstractText
We undertook a retrospective etiological study of all children referred for evaluation of pervasive developmental disorder (PDD). We identified 91 children who met the DSM III-R criteria for PDD. Fifty-two were diagnosed with autistic disorder (AD), and 39 with PDD-not otherwise specified (PDD-NOS). Seven families (8.2%) had more than one affected sib. The overall recurrence rate was 7.1%. Six families had a positive history of PDD in more distant relatives. An excess of developmental problems were identified on the maternal side (seven families, vs two families on the paternal side). Affected children had head circumferences above the mean when compared with standardized growth curves. A recognizable syndrome or genetic disorder was identified in 14 children (15.4%), of which 8 children (9%) were thought to be causative of PDD (5 children with Rett syndrome, 2 with fragile X syndrome, and 1 with velocardiofacial syndrome [VCFS]). Six others had a recognized genetic, cytogenetic, or metabolic disorder believed to be unrelated to the PDD diagnosis. Given the relatively high yield of genetic diagnoses in this population, we believe that children with PDD-NOS or AD should have a detailed evaluation by a clinical geneticist or pediatrician trained in dysmorphology. Chromosome anomalies, fragile X, and other recognizable disorders, including VCFS, need to be excluded. The value of general screening for an inborn error of metabolism in all children with PDD is not certain. In light of the relatively high recurrence of PDD in families, genetic counseling is recommended.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0196-206X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
321-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Outcomes of genetic evaluation in children with pervasive developmental disorder.
pubmed:affiliation
Section of Genetics and Metabolism, Children's Hospital, Winnipeg, Manitoba, Canada.
pubmed:publicationType
Journal Article, Clinical Trial