The DOI matches its Crossref record; 110 of the 110 references it cites were found in a registry or an index.
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]
Citations
Cites
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The American Journal of Human Genetics
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Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
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Cited by
Sorted by citations
Items 301–312 of 312
Neurobiology of Autism Spectrum Disorder
Casanova, M. F., Constantino, J. N., Ecker, C., Frye, R. E., Martínez‐Cerdeño, V., Rossignol, D. A., & Scherer, S. W. (2023) · Springer eBooks · doi:10.1007/978-3-030-42825-9_32-1
Autism Spectrum Disorder: A Lifespan Overview
Gordon, R., & Dimitropoulos, A. (2024) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-66932-3_15
Adaptive and Maladaptive Behaviour in Adults with Fragile X Syndrome and Down Syndrome
Gómez, M. B. M., & Garrote, G. P. D. A. (2024) · International Journal of Disability Development and Education · doi:10.1080/1034912x.2024.2427616
Huang, M., Ye, X., & Sakurai, T. (2025) · Current Bioinformatics · doi:10.2174/0115748936361195250410044441
Avances en neurobiología del autismo
Caycedo, L. S. (2006) · DOAJ (DOAJ: Directory of Open Access Journals)
Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic
Wang, Y., Wang, P., Xu, X., Goldstein, J., McConkie‐Rosell, A., Cheung, S. W., & Jiang, Y. (2015) · Contemporary clinical neuroscience · doi:10.1007/978-1-4939-2190-4_4
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye
Kayhan, G., Ozaslan, A., İşeri, E., Güney, E., Kazan, H. H., Büyüktaşkın, D., Mulayim, M. F., Ergün, M. A., & PERÇİN, F. E. (2026) · Genes · doi:10.3390/genes17020249
Réponse électrophysiologique à la voix humaine au cours du développement normal et dans l'autisme
Rogier, O. (2009) · theses.fr (ABES) · doi:10.70675/73182ba5z14f3z434fz868dzc11d498d96a0
Etudes des variations structurales chromosomiques dans l'autisme et la déficience mentale
Marouillat, S. (2011) · theses.fr (ABES) · doi:10.70675/61c503abz73b9z4e2eza417z1c6d98894a3b
Genetic Factors Associated with Autism Spectrum Disorders
Deisinger, J. A. (2012) · Emerald Group Publishing Limited eBooks · doi:10.1108/978-1-61735-782-420251005
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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