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Cited by 69Down syndrome and intellectual disability researchGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Genetic causes of intellectual disability in a birth cohort: A population‐based study

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Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto +1 more·2015·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.37011PMC PMC4863139
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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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  • Down syndrome results from trisomy 21 and is one of the most common genetic causes of intellectual disability.

    “Down syndrome (DS), resulting from trisomy 21 (Ts21), is one of the most common genetic causes of intellectual disability (1).”

    From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [1]

    The Results say Down syndrome was the most frequent genetic cause of intellectual disability in the cohort, and the Discussion calls it the most common genetic cause of intellectual disability. Our copy classifies Down syndrome as a chromosomal disorder but does not state that it results from trisomy 21 (searched: “trisomy 21” and “trisomy”). The indexed passages provide section labels but no page numbers. (LLM, conf=0.87)

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Authors
Karam, S. M., Riegel, M., Segal, S. L., Félix, T. M., Barros, A. J. D., Santos, I. S., Matijasevich, A., Giugliani, R., & Black, M.
Affiliations
  • Programa de Pós‐Graduação em Saúde da Criança e do Adolescente UFRGS Porto Alegre Brazil
  • Universidade Federal do Rio Grande do Sul (BR)
  • Serviço de Genética Médica HCPA Porto Alegre Brazil
  • Universidade Federal de Pelotas (BR)
  • Programa de Pós‐Graduação em Epidemiologia UFPel Pelotas Brazil
  • University of Maryland, Baltimore (US)
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2015-02-27
Volume
167
Issue
6
Pages
1204-1214
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.37011
PMC
PMC4863139
OpenAlex
W2029870545
Cited by
69
References
77
Citations by year
2026: 6 · 2025: 4 · 2024: 8 · 2023: 8 · 2022: 7 · 2021: 13 · 2020: 7 · 2019: 3 · 2018: 5 · 2017: 2 · 2016: 4 · 2015: 2
FWCI
4.65
Type
journal article
Language
en
Open access
Licence
Locations
  • American Journal of Medical Genetics Part A (publishedVersion, cc-by)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • World Health Organization
  • Brazilian Ministry of Health
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
intellectual disability, genetic etiology, prevalence, birth cohort, children, developmental delay, genetic counseling, middle-income countries, southern Brazil
MeSH terms
Brazil, Child, Developmental Disabilities, Child, Preschool, Female, Genetic Counseling, Humans, Intelligence Tests, Male, Intellectual Disability, Cohort Studies, Prevalence, In Situ Hybridization, Fluorescence, Comparative Genomic Hybridization

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