| Specific genetic disorders and autism: clinical contribution towards their identification. | |
| | |
MedLine Citation:
|
PMID: 15796126 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation. |
| | |
Authors:
|
David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron |
Related Documents
:
|
14513906 - New haliangicin isomers, potent antifungal metabolites produced by a marine myxobacterium. 3558326 - Capgras' syndrome: the delusion of substitution. 7608576 - Perspectives on craniofacial asymmetry. iv. hemi-asymmetries. 107136 - Basal cell nevus syndrome. a case report. 2311266 - 5p;12q translocation with manifestations of cri du chat syndrome and marfanoid arachnod... 12070486 - Guillain-barré syndrome after varicella zoster virus infections. a case report. |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Journal of autism and developmental disorders Volume: 35 ISSN: 0162-3257 ISO Abbreviation: J Autism Dev Disord Publication Date: 2005 Feb |
Date Detail:
|
Created Date: 2005-03-30 Completed Date: 2005-09-12 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7904301 Medline TA: J Autism Dev Disord Country: United States |
Other Details:
|
Languages: eng Pagination: 103-16 Citation Subset: IM |
Affiliation:
|
Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris. david.cohen@psl.ap-hop-paris.fr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Autistic Disorder
/
diagnosis,
epidemiology,
genetics* Causality Child Chromosome Aberrations / statistics & numerical data Comorbidity Genetic Counseling Genetic Diseases, Inborn / diagnosis, epidemiology, genetics* Genetic Predisposition to Disease / genetics Humans Phenotype Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Goal directed locomotion and balance control in autistic children.
Next Document: A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and...