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 suggest that the greater the genetic contribution, the more dysmorphic signs, and cognitive impairment are present.
“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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Jiang, Y., Wang, Y., Xu, X., Choy, K. W., Pursley, A. N., & Cheung, S. W. (2014) · Critical Reviews in Clinical Laboratory Sciences · doi:10.3109/10408363.2014.910747 · Cited by 45 · see citing works
Tessier, C. R., & Broadie, K. S. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.09.002 · Cited by 44 · see citing works
Hong, M. P., Eckert, E. M., Pedapati, E. V., Shaffer, R. C., Dominick, K. C., Wink, L. K., Sweeney, J. A., & Erickson, C. A. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9262-4 · Cited by 42 · see citing works
An assay for social interaction in Drosophila fragile X mutants
Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., & Tully, T. (2010) · Fly · doi:10.4161/fly.4.3.12280 · Cited by 42 · see citing works
On the hierarchy of choice: An applied neuroscience perspective on the AIDA model
Montazeribarforoushi, S., Keshavarzsaleh, A., & Ramsøy, T. Z. (2017) · Cogent Psychology · doi:10.1080/23311908.2017.1363343 · Cited by 43 · see citing works
- 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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