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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, firstname.lastname@example.org.
This article was published in the following journal.
Name: Journal of autism and developmental disorders
Chromosomal microarray analysis (CMA) has become increasingly important in the assessment of patients with autism spectrum disorders (ASD), but is sometimes restricted to patients with specific additi...
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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)
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.
MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENETIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with POLYMERASE CHAIN REACTION.
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...
Autism affects half a million people in the UK. Men are affected more than women. People with autism have said that the world, to them, is a mass of people, places and events which they struggle to make sense of, and which can cause them considerable a...