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
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
The American Journal of Human Genetics
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
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
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
Bailey, A. J., Phillips, W., & Rutter, M. L. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01381.x · Cited by 765
(1997) · PubMed · Cited by 645
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 511
Research works printed but not linked: 9
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- E. H. Cook Jr, 1997, American Journal of Human Genetics, 60, 928
- E. Fombonne, 1997, Journal of the American Academy of Child and Adolescent Psychiatry, 36, 1561
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Cited by
Sorted by citations
Psychosis and autism as diametrical disorders of the social brain
Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004214 · Cited by 635
The immune response in autism: a new frontier for autism research
Ashwood, P., Wills, S., & Van de Water, J. (2006) · Journal of Leukocyte Biology · doi:10.1189/jlb.1205707 · Cited by 528
Amiet, C., Gourfinkel-An, I., Bouzamondo, A., Tordjman, S., Baulac, M., Lechat, P., Mottron, L., & Cohen, D. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.04.030 · Cited by 499
Self-citationImmunity, neuroglia and neuroinflammation in autism
Pardo, C. A., Vargas, D. L., & Zimmerman, A. W. (2005) · International Review of Psychiatry · doi:10.1080/02646830500381930 · Cited by 469
AutDB: a gene reference resource for autism research
Basu, S. N., Kollu, R., & Banerjee-Basu, S. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn835 · Cited by 394
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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