ArticleJournal of medical genetics2023
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2026Pooled it
- Pooled it
- Effectiveness of the National Health Screening Program for Infants and Children in Detecting Neurodevelopmental Disorders: A Nationwide Population-Based Analysis.Annals of rehabilitation medicine · 2026Article
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Screening, Diagnosis, and Investigation of Global Developmental Delay and Intellectual Developmental Disorder.Cureus · 2025Article
- Towards an agreed approach to investigate children with developmental regression.BMJ paediatrics open · 2025Article
- Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.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
- Latest clinical frontiers related to autism diagnostic strategies.Cell reports. Medicine · 2025Review
- Article
- Digging Out Metabolic Causes in Global Developmental Delay.Indian journal of pediatrics · 2025Article
- Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.Scientific reports · 2025Article
- Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.American journal of medical genetics. Part A · 2024Article
- Closing gaps in care and knowledge for adults with complex genetic conditions.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2024Article
- Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.European journal of human genetics : EJHG · 2024Article
- Expected and Desirable Preterm and Small Infant Growth Patterns.Advances in nutrition (Bethesda, Md.) · 2024Review
- Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.Molecular genetics and genomics : MGG · 2024Article
- Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.Genes · 2024Article
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
14 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose and scopeThe aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global developmental delay (GDD), intellectual disability (ID) and/or autism spectrum disorder (ASD). This document also provides guidance for primary care and non-genetics specialists caring for these patients while awaiting consultation with a clinical geneticist or metabolic specialist. METHODS OF STATEMENT DEVELOPMENT: A multidisciplinary group reviewed existing literature and guidelines on the use of genetic and metabolic investigations for the diagnosis of NDDs and synthesised the evidence to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and to the Canadian Pediatric Society (Mental Health and Developmental Disabilities Committee); following incorporation of feedback, it was approved by the CCMG Board of Directors on 1 September 2022. RESULTS AND
conclusionsChromosomal microarray is recommended as a first-tier test for patients with GDD, ID or ASD. Fragile X testing should also be done as a first-tier test when there are suggestive clinical features or family history. Metabolic investigations should be done if there are clinical features suggestive of an inherited metabolic disease, while the patient awaits consultation with a metabolic physician. Exome sequencing or a comprehensive gene panel is recommended as a second-tier test for patients with GDD or ID. Genetic testing is not recommended for patients with NDDs in the absence of GDD, ID or ASD, unless accompanied by clinical features suggestive of a syndromic aetiology or inherited metabolic disease.
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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.