Evidence map›Paper›PMID 27468247›Full record

ArticleThe application of clinical genetics2016

Utilization of genetic testing among children with developmental disabilities in the United States.

Bridget Kiely, Sujit Vettam, Andrew Adesman

Abstract read
In one paragraph

Article in The application of clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed.

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  13. Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
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  14. Review
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  19. Minor physical anomalies in neurodevelopmental disorders: a twin study.Child and adolescent psychiatry and mental health · 2017
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Bridget KielyDivision of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Sujit VettamDivision of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Andrew AdesmanDivision of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSeveral professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey.

methodsData were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions. This study included 3,371 respondents who indicated that their child had an autism spectrum disorder (ASD), intellectual disability (ID), and/or developmental delay (DD) at the time of survey administration. History of genetic testing was assessed based on report by the parent/s. Children were divided into the following five mutually exclusive condition groups: ASD with ID; ASD with DD, without ID; ASD only, without ID or DD; ID without ASD; and DD only, without ID or ASD. Logistic regression was used to assess the demographic correlates of genetic testing, to compare the rates of genetic testing across groups, and to examine associations between genetic testing and use of other health-care services.

resultsOverall, 32% of this sample had a history of genetic testing, including 34% of all children with ASD and 43% of those with ID. After adjusting for demographics, children with ASD + ID were more than seven times as likely as those with ASD only, and more than twice as likely as those who had ID without ASD, to have undergone genetic testing. Prior specialist care (developmental pediatrician or neurologist) and access to all needed providers within the previous year were associated with higher odds of genetic testing.

conclusionThe majority of children in this nationally representative sample did not undergo recommended genetic testing. Research is needed to identify barriers to the use of genetic testing in this population.

Indexed as

autism spectrum disordersdevelopmental delaygenetic screeningintellectual disability

Identifiers

PMID27468247
PMCPMC4946856

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Registered trials

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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.