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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.
Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, 11101 Doctors Office Tower, 2200 Children's Way, Nashville, TN, 37232-9003, USA, email@example.com.
This article was published in the following journal.
Name: Journal of autism and developmental disorders
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Optimise genetic screening of human embryos using higher resolution techniques
The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format.
Techniques or methods of patient care used by nurses as primary careproviders.
The primary responsibility of one nurse for the planning, evaluation, and care of a patient throughout the course of illness, convalescence, and recovery.
A childhood disorder predominately affecting boys and similar to autism (AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development. (From DSM-IV)
Behavioral science applied with the aim of improving socially important issues such as behavior problems and learning. For individuals diagnosed with intellectual and developmental disabilities including AUTISM, techniques can be categorized as comprehensive or focused.
Neurology - Central Nervous System (CNS)
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Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
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