SynthesisPediatrics2014
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
Synthesis in Pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 259 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
259 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Calcium channelopathies and intellectual disability: a systematic review.Orphanet journal of rare diseases · 2021Pooled it
- Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.Canadian family physician Medecin de famille canadien · 2018Guideline
- New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.International journal of molecular sciences · 2021Trial
- Actionable and incidental neuroradiological findings in twins with neurodevelopmental disorders.Scientific reports · 2020Trial
- Parent-Child Interaction Therapy for Children with Developmental Delay: The Role of Sleep Problems.Journal of developmental and behavioral pediatrics : JDBP · 2019Trial
- Association of parental age with developmental vulnerability in early childhood: a population-based cohort study.Journal of epidemiology and community health · 2026Article
- Age-Adjusted Cerebellar Volumetry and Developmental Outcomes in Extremely Low Birth Weight Infants.bioRxiv : the preprint server for biology · 2026Article
- Quantitative susceptibility mapping reveals abnormal iron reduction in deep gray matter of children with global developmental delay.Pediatric radiology · 2026Article
- Review
- Social Functioning in Autistic Children with Below-Average vs. Average IQ: Limited Behavioral and Neural Evidence of Group Differences.Journal of autism and developmental disorders · 2026Article
- Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders.BMC pediatrics · 2026Article
- Circulating neuronal proteins are elevated in severe autism and associated with patient-specific neuronal dysfunction and behavioral deficits.Translational psychiatry · 2026Article
- The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology · 2026Article
- Clinical spectrum and treatment responses in.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Histone H4 Variant Causing Tessadori-Bicknell-van Haaften Syndrome in Early Infancy.Indian journal of pediatrics · 2026Article
- Incidental Diagnosis of Complete Agenesis of the Corpus Callosum in a 62-Year-Old Man Presenting With Dizziness.Cureus · 2026Article
- Vitamin B12 Deficiency in the Diagnostic Work-Up of Global Developmental Delay: A Treatable and Time-Sensitive Condition.Nutrients · 2026Review
- Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD).Italian journal of pediatrics · 2026Article
- Postmenstrual age-adjusted brain volumes and their association with early neurodevelopmental outcomes in very low birth weight infants.Scientific reports · 2026Article
199 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
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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.