ArticlePediatrics2020
Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder.
Article in Pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 56 citations in OpenAlex.
- Genetic Testing Abnormalities in Children with Autism Spectrum Disorder: Prevalence, Patterns, and Clinical Associations.Neurology international · 2026Article
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Autistic perspectives on the moral and ethical considerations of genetic testing for autism.European journal of human genetics : EJHG · 2025Article
- Genetic Testing of Neurodevelopmental Disorders in Israel.JAMA network open · 2025Article
- Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.Journal of medical genetics · 2025Article
- Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.International journal of molecular sciences · 2025Article
- Examining parents' perceptions of their children's autism and completion of genetic testing.International journal of developmental disabilities · 2025Article
- Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.European child & adolescent psychiatry · 2024Article
- Male and Female Toddlers with DSM-5 Autism Spectrum Disorder have Similar Developmental Profiles and Core Autism Symptoms.Journal of autism and developmental disorders · 2024Article
- Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.Annals of clinical and translational neurology · 2024Article
- Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis.PloS one · 2024Article
- Practitioner Review: Psychosis in children and adolescents.Journal of child psychology and psychiatry, and allied disciplines · 2023Review
- Child and adolescent psychiatrists' use, attitudes, and understanding of genetic testing and pharmacogenetics in clinical practice.Psychiatry research · 2023Article
- Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.International journal of developmental disabilities · 2023Article
- Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study.Autism : the international journal of research and practice · 2022Article
- Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.BMJ case reports · 2022Article
- Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.Developmental medicine and child neurology · 2022Article
- Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder.Genes · 2022Review
- Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.Journal of child psychology and psychiatry, and allied disciplines · 2021Article
- Child and Adolescent Psychiatrists' Perceptions of Utility and Self-rated Knowledge of Genetic Testing Predict Usage for Autism Spectrum Disorder.Journal of the American Academy of Child and Adolescent Psychiatry · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
objectivesGenetic testing is recommended for individuals with autism spectrum disorder (ASD). Pathogenic yield varies by clinician and/or patient characteristics. Our objectives were to determine the pathogenic yield of genetic testing, the variability in rate of pathogenic results based on subject characteristics, and the percentage of pathogenic findings resulting in further medical recommendations in toddlers with a
methodsWe conducted a retrospective chart review of 500 toddlers, 18 to 36 months, diagnosed with
resultsOver half of subjects (59.8%,
conclusionsOur findings reinforce the importance of genetic testing for toddlers diagnosed with ASD given the 12% yield and lack of phenotypic differences between subjects with and without pathogenic findings. The majority of pathogenic results lead to further medical recommendations.
Indexed as
Identifiers
What OpenQuestion holds
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.