Advertisement
Advertise here Publish your press releases here Sponsor BioPortfolio
Follow us on Twitter Sign up for daily news and research emails Contributors wanted

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

15:00 EDT 16th April 2014 | BioPortfolio

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

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.

Affiliation

Department of Pediatrics, Division of Developmental Medicine, Vanderbilt University Medical Center, 11101 Doctors Office Tower, 2200 Children's Way, Nashville, TN, 37232-9003, USA, susan.g.mcgrew@vanderbilt.edu.

Journal Details

This article was published in the following journal.

Name: Journal of autism and developmental disorders
ISSN: 1573-3432
Pages:

Links

PubMed Articles [24458 Associated PubMed Articles listed on BioPortfolio]

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay...

Update on diagnostic classification in autism.

In the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny.

Quality of life in autism across the lifespan: A meta-analysis.

Autism is a lifelong neurodevelopmental disorder, with a known impact on quality of life. Yet the developmental trajectory of quality of life is not well understood. First, the effect of age on qualit...

Awareness of autism in primary school teachers.

Objective. To assess the knowledge and perception of primary school teachers regarding autism in private and public schools of Karachi, Pakistan. Methods. A cross-sectional survey was conducted on pri...

Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.

Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart...

Clinical Trials [4851 Associated Clinical Trials listed on BioPortfolio]

Study of Sperm Molecular Factors Implicated in Male Fertility

Sperm analysis following World Health Organization guidelines is unable to explain the molecular causes of male infertility when basic sperm parameters are within a normal range and women...

Divalproex Sodium vs. Placebo in Childhood/Adolescent Autism

The study is designed to assess the efficacy of treatment with divalproex sodium (DS) vs. placebo in childhood/adolescent autism fulfilling DSM-IV and Autism Diagnostic Interview (ADI) cri...

Chromosomal Analysis of Single Cells in Human Embryos

Optimise genetic screening of human embryos using higher resolution techniques

Autism in Adult Patients and the Effects on Caregivers

Background: The number of adults with autism is expected to rise significantly in the near future, due to two main reasons: First, a dramatic increase in the estimates of the prevalence of...

Studying Lymph Nodes in Patients With Stage II Colon Cancer

RATIONALE: Diagnostic procedures that look for micrometastases in lymph nodes removed during surgery for colon cancer may help doctors learn the extent of disease. PURPOSE: This phase I t...

Medical and Biotech [MESH] Definitions

The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format.

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.

Search BioPortfolio: