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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
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-inva...
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...
This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA ...
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To evaluate the usefulness of chromosomal microarray analysis (CMA) in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype.
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 ...
Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization...
This research concerns the contribution of a new examination, high-throughput exome sequencing, in the diagnosis of the cause of polymalformative fetal syndromes. With currently available ...
Optimise genetic screening of human embryos using higher resolution techniques
Pancreas cancer and precancerous cysts can be difficult to diagnose. Sometimes biopsies do not show cancer when cancer is actually present. We hypothesize that genetic differences exist in...
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)
Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinson's Disease Sleep Disorders Neurology is the branch of me...
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...