Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Jun;167(6):1204-14.
doi: 10.1002/ajmg.a.37011. Epub 2015 Feb 27.

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

Simone M Karam  1   2 , Mariluce Riegel  3   4 , Sandra L Segal  3 , Têmis M Félix  1   3 , Aluísio J D Barros  5 , Iná S Santos  5 , Alicia Matijasevich  5   6 , Roberto Giugliani  1   3   7 , Maureen Black  8
Affiliations

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

Simone M Karam et al. Am J Med Genet A. 2015 Jun.

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.

Keywords: birth defects; genetics causes of diseases; intellectual disability; mental retardation; population-based studies.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Flowchart outlining recruitment, visits, and procedures related to the 2004 Pelotas Birth Cohort study. EPDS, Edinburgh Postnatal Depression Scale; BDI, Battelle Development Inventory; CBCL, Child Behavior Checklist; WPPSI, Wechsler Preschool and Primary Scale of Intelligence; WISC, Wechsler Intelligence Scale for Children; CPT‐II, Conners' Continuous Performance Test; DAWBA, Development and Well‐Being Assessment for Children and Adolescents.
Figure 2
Figure 2
Flowchart outlining ID assessment in the 2004 Pelotas Birth Cohort study.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Aguiar MJB, Campos AS, Aguiar RALP, Lana AMA, Magalhães RL, Babeto LT. 2003. Defeitos de fechamento de tubo neural e fatores associados em recém‐nascidos vivos e natimortos. Jornal Pediatr (RIO J) 79:129–134. - PubMed
    1. Barros AJD, Matijasevich A, Santos IS, Halpern R. 2010. Child development in a birth cohort: Effect of child stimulation is stronger in less educated mothers. Int J Epidemiol 39:285–294. - PMC - PubMed
    1. Barros AJD, Santos IS, Victora CG, Albernaz EP, Dominguez MR, Timm IK, Matijaevich A, Bertoldi AD, Barros FC. 2006. Coorte de Nascimentos de Pelotas, 2004: Metodologia e descrição Rev Saúde Pub 40:402–413. - PubMed
    1. Battaglia A, Carey J. 2003. Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet Part C (Semin Med Genet) 117C:3–14. - PubMed
    1. Bennetto L, Pennington BF. 1996. The neuropsychology of fragile X syndrome In: Hagerman RJ, Cronister A, editors. Fragile X Syndrome. Diagnosis, Treatment and Research. Baltimore, USA: The Johns Hopkins University Press; pp 215–217 (chapter 6).

Publication types

MeSH terms