The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Autism and tuberous sclerosis
Open accessAbstract
Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the cooccurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17–58% of TSC subjects manifesting autism and 0.4–3% of autistic subjects having TSC. In initial data collected on 13 TSC probands and 14 autistic probands in our family study of autism and TSC, we identified 7 TSC subjects with autism. The seven TSC autistic probands are similar to non-TSC autistic probands on the Social and Communication domains of the Autism Diagnostic Inventory (ADI) (Le Couteur et al., 1989), but show fewer Repetitive Rituals. There are more male TSC probands with autism than female, despite an equal sex ratio among TSC probands. The TSC probands with autism have significantly more seizures and mental retardation than those without autism; however, the extent and etiology of associations require further study. Our preliminary findings suggest that a fruitful approach for delineating genetic influences in autism may come from further investigation of possible mechanisms underlying the association of autism and TSC.
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Cites
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
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
Identification and characterization of the tuberous sclerosis gene on chromosome 16
(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645
Epidemiology of autistic conditions in young children: 1. Prevalence
Lotter, V. (1966) · Social Psychiatry · doi:10.1007/bf00584048 · Cited by 780
Psychiatric disorders in the parents of autistic individuals
PIVEN, J., CHASE, G. A., LANDA, R., WZOREK, M., GAYLE, J., CLOUD, D., & FOLSTEIN, S. (1991) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199105000-00019 · Cited by 206
Autism and Psychiatric Disorders in Tuberous Sclerosis
SMALLEY, S., SMITH, M., & TANGUAY, P. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb37789.x · Cited by 19
Self-citation
Cited by
Identification and Evaluation of Children With Autism Spectrum Disorders
Johnson, C. P., Myers, S. M., & and the Council on Children With Disabilities (2007) · Pediatrics · doi:10.1542/peds.2007-2361 · Cited by 2,011
The Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793
Epidemiological Surveys of Autism and Other Pervasive Developmental Disorders: An Update
Fombonne, E. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025054610557 · Cited by 1,505
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
Metadata
- Authors
- Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G.
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 1992-09
- Volume
- 22
- Issue
- 3
- Pages
- 339-355
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- OpenAlex
- W1997714374
- Cited by
- 520
- References
- 6
- FWCI
- 3.45
- Type
- journal article
- Language
- en
- Open access
- green
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