Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007
Open accessAbstract
The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.
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Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,841 · see citing works
Diagnostic and Statistical Manual of Mental Disorders.
Widiger, T. A. (2000) · Oxford University Press eBooks · doi:10.1037/10518-009 · Cited by 19,767 · see citing works
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works
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 · see citing works
Self-citationAdvances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Prevalence of intellectual disability: a meta-analysis of population-based studies
Maulik, P. K., Mascarenhas, M. N., Mathers, C. D., Dua, T., & Saxena, S. (2011) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2010.12.018 · Cited by 1,770 · see citing works
Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., et al. (2011) · Pediatrics · doi:10.1542/peds.2010-2825 · Cited by 1,429 · see citing works
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · cited 1× · see citing works
“Given the known heritability of ASD and association with known genetic syndromes, genetic testing has been used for decades in clinical research assessments of individuals with ASD (Folstein and Rutter 1977).”
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207 · see citing works
Pervasive Developmental Disorders in preschool children
Chakrabarti, S. (2001) · JAMA · doi:10.1001/jama.285.24.3093 · Cited by 1,132 · see citing works
Practice parameter: Screening and diagnosis of autism
Filipek, P. A., Accardo, P., Ashwal, S., Baranek, G. T., Cook, E. H., Dawson, G., Gordon, B., Gravel, J. S., Johnson, C. P., Kallen, R. J., et al. (2000) · Neurology · doi:10.1212/wnl.55.4.468 · Cited by 1,061 · see citing works
Racial/Ethnic Disparities in the Identification of Children With Autism Spectrum Disorders
Mandell, D. S., Wiggins, L. D., Carpenter, L. A., Daniels, J., DiGuiseppi, C., Durkin, M. S., Giarelli, E., Morrier, M. J., Nicholas, J. S., Pinto-Martin, J. A., et al. (2009) · American Journal of Public Health · doi:10.2105/ajph.2007.131243 · Cited by 946 · see citing works
Self-citationRace differences in the age at diagnosis among medicaid-eligible children with autism
MANDELL, D. S., LISTERUD, J., LEVY, S. E., & PINTO-MARTIN, J. A. (2002) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200212000-00016 · Cited by 684 · see citing works
Self-citationA recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Manning, M. A., & Hudgins, L. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f8baad · Cited by 665 · see citing works
Disparities in Diagnoses Received Prior to a Diagnosis of Autism Spectrum Disorder
Mandell, D. S., Ittenbach, R. F., Levy, S. E., & Pinto-Martin, J. A. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0314-8 · Cited by 533 · see citing works
Self-citationRacial and Ethnic Disparities in Pediatric Mental Health
Alegria, M., Vallas, M., & Pumariega, A. J. (2010) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2010.07.001 · Cited by 523 · see citing works
Sibling Recurrence and the Genetic Epidemiology of Autism
Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09101470 · Cited by 481 · see citing works
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
(2001) · The American Journal of Human Genetics · doi:10.1086/323264 · Cited by 453 · see citing works
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31822c79f9 · Cited by 437 · see citing works
Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002521 · Cited by 429 · see citing works
Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics · doi:10.1542/peds.2009-1684 · Cited by 394 · see citing works
The role of culture in families' treatment decisions for children with autism spectrum disorders
Mandell, D. S., & Novak, M. (2005) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20061 · Cited by 303 · see citing works
Self-citationGenetics of autistic disorders: review and clinical implications
Freitag, C. M., Staal, W., Klauck, S. M., Duketis, E., & Waltes, R. (2009) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-009-0076-x · Cited by 206 · see citing works
Recent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 203 · see citing works
Racial and Ethnic Variations in Knowledge and Attitudes about Genetic Testing
Singer, E., Antonucci, T. C., & Hoewyk, J. V. (2004) · Genetic Testing · doi:10.1089/109065704323016012 · Cited by 180 · see citing works
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr243 · Cited by 175 · see citing works
Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31815efdd7 · Cited by 173 · see citing works
The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications
El-Fishawy, P., & State, M. W. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.002 · Cited by 166 · see citing works
Age of Diagnosis Among Medicaid-Enrolled Children With Autism, 2001–2004
Mandell, D. S., Morales, K. H., Xie, M., Lawer, L., Stahmer, A. C., & Marcus, S. C. (2010) · Psychiatric Services · doi:10.1176/ps.2010.61.8.822 · Cited by 155 · see citing works
Self-citationClinical genetics evaluation in identifying the etiology of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cc9 · Cited by 135 · see citing works
Understanding risk and lessons for clinical risk communication about treatment preferences
Edwards, A., & Elwyn, G. J. (2001) · BMJ Quality & Safety · doi:10.1136/qhc.0100009 · Cited by 125 · see citing works
Chromosomal microarray testing influences medical management
Coulter, M. E., Miller, D. T., Harris, D. J., Hawley, P. P., Picker, J. D., Roberts, A. E., Sobeih, M. M., & Irons, M. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821dd54a · Cited by 122 · see citing works
Autism spectrum disorders: clinical and research frontiers
Caronna, E. B., Milunsky, J. M., & Tager-Flusberg, H. B. (2008) · Archives of Disease in Childhood · doi:10.1136/adc.2006.115337 · Cited by 121 · see citing works
Hilton, C. L., Fitzgerald, R. T., Jackson, K., Maxim, R. A., Bosworth, C. C., Shattuck, P. T., Geschwind, D. H., & Constantino, J. N. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0905-2 · Cited by 98 · see citing works
Regier, D. A., Friedman, J. M., & Marra, C. A. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.009 · Cited by 67 · see citing works
McGrew, S. G., Peters, B., Crittendon, J. A., & Veenstra-VanderWeele, J. M. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1398-3 · Cited by 64 · see citing works
Miller, F. A., Hayeems, R. Z., & Bytautas, J. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.34 · Cited by 58 · see citing works
Clinical Utility of Chromosomal Microarray Analysis
Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., Lewis, J., Torchia, B. S., Walker, C., Traylor, R. N., et al. (2012) · PEDIATRICS · doi:10.1542/peds.2012-0568 · Cited by 52 · see citing works
Saam, J. R., Gudgeon, J., Aston, E., et al. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e3181634eca · Cited by 41 · see citing works
Roesser, J. L. (2011) · Clinical Pediatrics · doi:10.1177/0009922811406261 · Cited by 41 · see citing works
Mendelsohn, N. J., & Schaefer, G. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.01.005 · Cited by 37 · see citing works
Aratani, Y., & Cooper, J. L. (2011) · The Journal of Behavioral Health Services & Research · doi:10.1007/s11414-011-9261-z · Cited by 33 · see citing works
Mandell, D. S., Morales, K. H., Xie, M., Polsky, D. E., Stahmer, A. C., & Marcus, S. C. (2010) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-0982-2 · Cited by 25 · see citing works
Self-citationDatapoints: Medicaid's Increasing Role in Treating Youths With Autism Spectrum Disorders
Semansky, R. M., Xie, M., & Mandell, D. S. (2011) · Psychiatric Services · doi:10.1176/ps.62.6.pss6206_0588 · Cited by 17 · see citing works
Self-citationGenetic testing for autism: recent advances and clinical implications
Miller, D. T. (2010) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.10.82 · Cited by 16 · see citing works
Datapoints: Medicaid's Increasing Role in Treating Youths With Autism Spectrum Disorders
Semansky, R. M. (2011) · Psychiatric Services · doi:10.1176/appi.ps.62.6.588 · Cited by 6 · see citing works
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- Authors
- Shea, L., Newschaffer, C. J., Xie, M., Myers, S. M., & Mandell, D. S.
- Affiliations
- Drexel University (US)
- University of Pennsylvania (US)
- Geisinger Health System (US)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Shea, Lindsay
- Venue
- Human Genetics
- Published
- 2013-09-15
- Volume
- 133
- Issue
- 1
- Pages
- 111-116
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC4765906
- OpenAlex
- W2010410866
- Cited by
- 26
- References
- 48
- Citations by year
- 2025: 3 · 2023: 1 · 2022: 3 · 2021: 3 · 2020: 3 · 2019: 1 · 2018: 5 · 2017: 3 · 2016: 1 · 2015: 1 · 2014: 2
- FWCI
- 0.73
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH077000)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- autism spectrum disorder, genetic testing, genetic counseling, chromosomal microarray analysis, health care disparities, racial and ethnic disparities, sex differences, service utilization trends
- MeSH terms
- Child, Child Development Disorders, Pervasive, Female, Genetic Counseling, Genetic Testing, Humans, Male, Medicaid, Intellectual Disability, United States, Prevalence, Logistic Models, Healthcare Disparities
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