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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification
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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“some authors (142–144) suggest that the greater the genetic contribution, the more dysmorphic signs, and cognitive impairment are present.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [144]
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Metadata
- 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
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2005-02
- Volume
- 35
- Issue
- 1
- Pages
- 103-116
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- 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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