Cited by 316Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Cohen, David, Pichard, Nad�ge, Tordjman, Sylvie, Baumann, Clarisse, Burglen, Lydie, Excoffier, Elsa, Lazar, Gabriela, Mazet, Philippe, Pinquier, Cl�ment, Verloes, Alain, H�ron, Delphine·2005·Journal of Autism and Developmental Disorders

DOI 10.1007/s10803-004-1038-2

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Abstract

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.

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Authors: Cohen, D., Pichard, N., Tordjman, S., Baumann, C., Burglen, L., Excoffier, E., Lazar, G., Mazet, P., Pinquier, C., Verloes, A., & H�ron, D.
Affiliations: Pitié-Salpêtrière Hospital (FR)
Centre National de la Recherche Scientifique (FR)
Hôpital Robert-Debré (FR)
Corresponding author: Cohen, David
ORCID: Cohen, David
Tordjman, Sylvie
Venue: Journal of Autism and Developmental Disorders
Publisher: Springer Science and Business Media LLC
Published: 2005-02
Volume: 35
Issue: 1
Pages: 103-116
ISSN: 0162-3257 (ISSN-L)
1573-3432
DOI: 10.1007/s10803-004-1038-2
OpenAlex: W2163364301
Cited by: 316
References: 110
Citations by year: 2026: 1 · 2025: 2 · 2024: 8 · 2023: 4 · 2022: 15 · 2021: 5 · 2020: 10 · 2019: 16 · 2018: 7 · 2017: 26 · 2016: 10 · 2015: 18 · 2014: 21 · 2013: 13 · 2012: 22
FWCI: 37.36
Type: book chapter
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Journal of Autism and Developmental Disorders (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: autism spectrum disorder, genetic disorders, fragile X syndrome, tuberous sclerosis complex, Angelman syndrome, Down syndrome, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, Smith-Lemli-Opitz syndrome, diagnostic approach, clinical screening
MeSH terms: Autistic Disorder, Child, Chromosome Aberrations, Genetic Counseling, Humans, Phenotype, Syndrome, Comorbidity, Causality, Genetic Predisposition to Disease, Genetic Diseases, Inborn

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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

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