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

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

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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Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
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
S., J. (1950) · Population · doi:10.2307/1523704 · Cited by 5,124
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
Austism diagnostic observation schedule: A standardized observation of communicative and social behavior
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
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
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
Untitled work
(1997) · PubMed · Cited by 645
Autism and tuberous sclerosis
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 511

Show all 110 references

Research works printed but not linked: 9

J. C. Cabral de Almeida, 1989, Annals of Genetics, 32, 184
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
D. Héron, 1999, Neurologies, 2, 140
J. Jaeken, 1984, Lancet, 2, 1058
A. Orrico, 2000, FEBS Letters, 24106, 1
C. Pinquier, 2001, L?Encéphale, 27, 45
E. Tierny, 2001, Mental Retardation and Developmental Disability Research Review, 98, 191
C. A. Williams, 1990, American Journal of Medical Genetics (Suppl), 7, 110

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Morais, Y. B., Felix, L. D. C., & Oliveira, S. D. R. C. (2022) · Amplla Editora eBooks · doi:10.51859/amplla.tea2232-21
DIETAS ISENTAS DE GLÚTEN E CASEÍNA EM CRIANÇAS E ADOLESCENTES COM TEA
Vasconcelos, Q. D. J. S. (2022) · Amplla Editora eBooks · doi:10.51859/amplla.tea2232-30
METILAÇÃO DO DNA ENVOLVIDA NA EXPRESSÃO DO TRANSTORNO DO ESPECTRO AUTISTA
Maia, D. O., Alves, A. D. S., Guimarães, S. C. M., Rocha, I. G. B., ALBUQUERQUE, G. B. D., & Aragão, G. F. (2022) · Amplla Editora eBooks · doi:10.51859/amplla.tea2232-13
Effectiveness of healing touch technique among autistic patient : a randomized control trial
Sresumatchai, V. (2017) · Chula Digiverse · doi:10.58837/chula.the.2017.517

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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