Abstract
Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy
of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College
of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119),
and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA
results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship
between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA
should be the clinical standard in all specialties for first tier genetic testing in ASD.
of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College
of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119),
and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA
results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship
between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA
should be the clinical standard in all specialties for first tier genetic testing in ASD.
- Content Type Journal Article
- Category Original Paper
- Pages 1-10
- DOI 10.1007/s10803-011-1398-3
- Authors
- Susan G. McGrew, Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, 11101 Doctors Office Tower, 2200 Children’s Way, Nashville, TN 37232-9003, USA
- Brittany R. Peters, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-9003, USA
- Julie A. Crittendon, Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, 11101 Doctors Office Tower, 2200 Children’s Way, Nashville, TN 37232-9003, USA
- Jeremy Veenstra-VanderWeele, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN, USA
- Journal Journal of Autism and Developmental Disorders
- Online ISSN 1573-3432
- Print ISSN 0162-3257