ReviewCold Spring Harbor perspectives in medicine2020
Genetic Counseling in Neurodevelopmental Disorders.
Review in Cold Spring Harbor perspectives in medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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
32 citing papers in PubMed, 52 citations in OpenAlex.
- Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.Clinical genetics · 2026Article
- Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.Molecular genetics & genomic medicine · 2026Article
- The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.Journal of genetic counseling · 2026Article
- Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report.Children (Basel, Switzerland) · 2026Article
- Biallelic TruncatingInternational journal of molecular sciences · 2026Review
- CARDBiomedBench: a benchmark for evaluating the performance of large language models in biomedical research.The Lancet. Digital health · 2026Review
- Reasons for refusal of genetic testing in the evaluation of autism spectrum disorder and intellectual developmental disorder with longitudinal follow-up on test completion.Genetics in medicine open · 2026Article
- Genetic Counseling Utilization and Experience Among Caregivers of Children With ASD in the United States.Journal of autism and developmental disorders · 2025Article
- Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.European journal of human genetics : EJHG · 2025Article
- Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.Journal of human genetics · 2025Article
- CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.BMC medical genomics · 2025Article
- Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.Developmental neurobiology · 2025Article
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 2025Article
- Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.Journal of the Royal Society of New Zealand · 2025Article
- Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.European journal of human genetics : EJHG · 2024Article
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 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
- The effectiveness of a dialogical family guidance intervention regarding child treatment response in families with a child with neurodevelopmental disorders.BMC psychology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction. Although the etiology of NDD is heterogeneous, genetic variation represents the largest contribution, strongly supporting the recommendation for genetic evaluation in individuals with GDD/ID and ASD. Technological advances now allow for a specific genetic diagnosis to be identified in a substantial portion of affected individuals. This information has important ramifications for treatment, prognosis, and recurrence risk, as well as psychological and social benefits for the family. Genetic counseling is a vital service to enable patients and their families to understand and adapt to the genetic contribution to NDDs. As the demand for genetic evaluation for NDDs increases, genetic counselors will have a predominant role in the ongoing evaluation of NDDs, especially as identification of genetic etiologies has the potential to lead to targeted treatments for NDDs in the future.
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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.