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01-08-2012 | Original Paper | Uitgave 8/2012

Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?

Tijdschrift:: Journal of Autism and Developmental Disorders > Uitgave 8/2012

Auteurs:: Susan G. McGrew, Brittany R. Peters, Julie A. Crittendon, Jeremy Veenstra-VanderWeele

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Presented at International Meeting for Autism Research, San Diego, CA, May, 2011.

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.

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Titel: Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
Auteurs:: Susan G. McGrew
Brittany R. Peters
Julie A. Crittendon
Jeremy Veenstra-VanderWeele
Publicatiedatum: 01-08-2012
DOI: https://doi.org/10.1007/s10803-011-1398-3
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Uitgave 8/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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