ReviewIrish journal of medical science2016
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
Review in Irish journal of medical science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.Orphanet journal of rare diseases · 2026Article
- Towards an agreed approach to investigate children with developmental regression.BMJ paediatrics open · 2025Article
- Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.Neuropediatrics · 2025Observational
- DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.Italian journal of pediatrics · 2025Article
- INAHTA member agency stories of engaging, adaptable, and impactful HTA.International journal of technology assessment in health care · 2024Review
- Article
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.Molecular genetics & genomic medicine · 2023Article
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- Children, Adolescents, and Young Adults with Borderline Intellectual Functioning: Etiological, Neurophysiological, and Mri Findings in a Cohort of 651 Patients.Neurology international · 2022Article
- Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.BMJ case reports · 2022Article
- How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study.BMC pediatrics · 2022Article
- Genetic analysis of neurodevelopmental disorders in children.Frontiers in child and adolescent psychiatry · 2022Article
- Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children.Frontiers in molecular biosciences · 2021Article
- Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.Clinical and experimental pediatrics · 2020Article
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq.Oman medical journal · 2019Article
- Current evidence-based recommendations on investigating children with global developmental delay.Archives of disease in childhood · 2017Review
- Genetics of Schizophrenia: Ready to Translate?Current psychiatry reports · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInvestigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty.
aimsA guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID. METHODS AND RECOMMENDATIONS: A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs.
conclusionIt is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.
Indexed as
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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.