ArticleJournal of autism and developmental disorders2012
Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?
Article in Journal of autism and developmental disorders, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 64 citations in OpenAlex.
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.Molecular genetics & genomic medicine · 2021Article
- Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Screening forBioMed research international · 2021Article
- Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group.Journal of community genetics · 2020Article
- Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder.Pediatrics · 2020Article
- Article
- Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.Molecular genetics & genomic medicine · 2019Article
- Review
- Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies.International journal of environmental research and public health · 2019Review
- Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.Journal of autism and developmental disorders · 2018Article
- Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.Molecular genetics & genomic medicine · 2018Article
- Do the data really support ordering fragile X testing as a first-tier test without clinical features?Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.PLoS currents · 2017Article
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.International journal of molecular sciences · 2016Article
- Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.Clinical and translational medicine · 2016Article
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.BioMed research international · 2016Article
- What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders.Autism research and treatment · 2016Article
- 7q11.23 Duplication syndrome: Physical characteristics and natural history.American journal of medical genetics. Part A · 2015Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.