ArticlePaediatrics & child health2018
Paediatricians underuse recommended genetic tests in children with global developmental delay.
Article in Paediatrics & child health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Implementing Genetic Cascade Testing for Familial Hypercholesterolemia in Primary Care: Patient and General Practitioner Experiences.International journal of behavioral medicine · 2026Article
- Integration of medical genetics and genomics into faculty development programs in india: assessment of success and experience of genetic research centre.Journal of community genetics · 2026Article
- Health-related social needs and referrals for genetic evaluation among young children.Genetics in medicine open · 2026Article
- Genetic Testing for Global Developmental Delay in Early Childhood.JAMA network open · 2024Article
- Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.Journal of primary care & community healthArticle
- Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.Missouri medicineArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo assess paediatricians' use of genetic testing for children with global developmental delay (GDD). STUDY
designWe developed and piloted a questionnaire assessing the use of genetic tests in children with GDD and awareness of relevant guidelines. All practicing Quebec paediatricians were contacted. Paediatricians who did not evaluate children with GDD in their practice were excluded. Descriptive and statistical analyses were performed with SPSS.
resultsOf the 651 paediatricians, 225 answered (34.5%) and 141 were eligible. Only 31.9% were familiar with at least one guideline about genetic tests for the investigation of children with GDD, but 93.6% had ordered genetic testing for children with GDD (Fragile X testing [92.9%], karyotype [87.2%] and chromosomal microarray [63.8%]). Based on vignettes, 20.6% of participants would order genetic tests for isolated GDD and 95.0% for GDD with dysmorphic features and microcephaly. Only 56.7% ordered Fragile X testing for a girl with GDD and a known family history of Fragile X syndrome. Use of tests for isolated GDD was increased in presence of maternal pregnancy, compared with absence of pregnancy (44.7% and 27.7%, respectively). More participants would order genetic tests for a child with GDD and fetal exposure to alcohol (69.5%) than isolated GDD (20.6%).
conclusionsEven though paediatricians often order genetic testing for children with GDD, practices and knowledge regarding testing are not optimal. As new and more complex genetic tests are developed, up-to-date training about the use of genetic tests for children with GDD needs to be integrated into paediatrics residency programs and continuous medical education.
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