ReviewClujul medical (1957)2015
Genetic testing in patients with global developmental delay / intellectual disabilities. A review.
Review in Clujul medical (1957), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled 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.
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
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Article
- Genetic profiling enhances cystic fibrosis prenatal diagnosis.Scientific reports · 2026Article
- ComplexFrontiers in pediatrics · 2026Article
- Profiling the developmental signatures of genetic global developmental delay.Pediatric research · 2025Article
- The analysis of gut microbiota characteristics in children with global developmental delay.Frontiers in cellular and infection microbiology · 2025Article
- Do maternal and paternal education protect against developmental delays?Research in developmental disabilities · 2024Article
- Review
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- Review
- The metabolic role of vitamin D in children's neurodevelopment: a network study.Scientific reports · 2024Article
- Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.Journal of neurodevelopmental disorders · 2024Article
- Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.European journal of pediatrics · 2024Article
- Article
- Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report.Iranian journal of medical sciences · 2022Article
- Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.American journal of translational research · 2022Article
- Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.Balkan journal of medical genetics : BJMG · 2021Article
- First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly.Molecular syndromology · 2021Article
- Molar Incisor Hypomineralization in Children with Intellectual Disabilities.Dentistry journal · 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
No grant is acknowledged in the PubMed record.
Abstract
Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.
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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.