ArticleAmerican journal of medical genetics. Part A2015
Genetic causes of intellectual disability in a birth cohort: a population-based study.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Barriers and Facilitators to Participation in Psychosocial Research for Adults With Intellectual Disabilities: A Systematic Review.Journal of applied research in intellectual disabilities : JARID · 2026Pooled it
- Wearable-Sensor-Based Physical Activity and Sleep in Children with Down Syndrome Aged 0-5 Years: A Systematic Review.Sensors (Basel, Switzerland) · 2025Pooled it
- Neurologic complications of Down syndrome: a systematic review.Journal of neurology · 2021Pooled it
- Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex.Science (New York, N.Y.) · 2026Article
- The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities.Scientific reports · 2026Article
- Pathological Insights into Neurodegenerative and Neurodevelopmental Disorders: Perspectives for the Development of Novel Treatment Approaches.CNS & neurological disorders drug targets · 2026Review
- Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT).Environmental and molecular mutagenesis · 2025Review
- Accelerated Tempo of Cortical Neurogenesis in Down Syndrome.bioRxiv : the preprint server for biology · 2025Article
- Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss.Frontiers in genetics · 2024Article
- Utilising Interview Methodology to Inform the Development of New Clinical Assessment Tools for Anxiety in Autistic Individuals Who Speak Few or no Words.Journal of autism and developmental disorders · 2023Article
- Health-related quality of life of intellectually disabled children attending a special school in Puducherry-A cross-sectional study.Journal of family medicine and primary care · 2022Article
- Article
- Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.Journal of human genetics · 2021Article
- Intellectual Developmental Disabilities:: Definitions, Diagnosis, and Delivery of Care.Delaware journal of public health · 2021Article
- Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.Frontiers in molecular neuroscience · 2021Review
- Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.International journal of general medicine · 2021Article
- Medical care in clinical genetics: an experience of decentralization in southern Brazil.Einstein (Sao Paulo, Brazil) · 2021Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.BMC medical genomics · 2019Article
- Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability affects approximately 1-3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle-income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing identification of intellectual disability and estimation of the prevalence of genetic causes in this population, thereby increasing the possibility of providing appropriate management and/or genetic counseling.
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