Genetic Causes of Intellectual Disability in a Birth Cohort: a Population-based Study

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2015 Mar 3

PMID 25728503

Citations 18

Authors

Simone M Karam

Mariluce Riegel

Sandra L Segal

Temis M Felix

Aluisio J D Barros

Ina S Santos

Alicia Matijasevich

Roberto Giugliani

Maureen Black

Affiliations

Soon will be listed here.

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.

Citing Articles

Height and weight reference charts for Brazilians with intellectual disabilities aged 7-17.

de Souza A, Bertapelli F, Guerra-Junior G J Pediatr (Rio J). 2024; 101(2):269-275.

PMID: 39645231 PMC: 11889685. DOI: 10.1016/j.jped.2024.11.004.

Study of Clinical Characteristics of Intellectual Disability in Morocco.

Bekkari H, Benmakhlouf Y, Ghailani Nourouti N, Barakat A, Bennani Mechita M Innov Clin Neurosci. 2024; 21(7-9):10-14.

PMID: 39329031 PMC: 11424067.

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss.

Choi H, Kim J, Cho K, Kim H, Park M Front Genet. 2024; 15:1355823.

PMID: 38628577 PMC: 11018894. DOI: 10.3389/fgene.2024.1355823.

Sasinthar K, Sugumaran A, Boratne A, Patil R J Family Med Prim Care. 2022; 11(8):4549-4554.

PMID: 36353037 PMC: 9638635. DOI: 10.4103/jfmpc.jfmpc_520_21.

Utilising Interview Methodology to Inform the Development of New Clinical Assessment Tools for Anxiety in Autistic Individuals Who Speak Few or no Words.

Edwards G, Tarver J, Shelley L, Bird M, Hughes J, Crawford H J Autism Dev Disord. 2022; 53(6):2328-2348.

PMID: 35304663 PMC: 10229722. DOI: 10.1007/s10803-022-05509-y.

References

Moura D, Costa J, Santos I, Barros A, Matijasevich A, Halpern R . Natural history of suspected developmental delay between 12 and 24 months of age in the 2004 Pelotas birth cohort. J Paediatr Child Health. 2010; 46(6):329-36. DOI: 10.1111/j.1440-1754.2010.01717.x. View

. Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment--United States, 2003. MMWR Morb Mortal Wkly Rep. 2004; 53(3):57-9. View

Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T . Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14(6):701-13. DOI: 10.1038/sj.ejhg.5201595. View

Moeschler J, Shevell M . Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006; 117(6):2304-16. DOI: 10.1542/peds.2006-1006. View

Gilissen C, Hehir-Kwa J, Tjwan Thung D, van de Vorst M, van Bon B, Willemsen M . Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014; 511(7509):344-7. DOI: 10.1038/nature13394. View

Felix T, Leite J, Maluf S, Coelho J . A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil. Clin Genet. 1998; 54(3):219-23. DOI: 10.1111/j.1399-0004.1998.tb04288.x. View

Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati M . Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet. 2002; 107(4):267-74. DOI: 10.1002/ajmg.10240. View

Durkin M, Khan N, Davidson L, Huq S, Munir S, Rasul E . Prenatal and postnatal risk factors for mental retardation among children in Bangladesh. Am J Epidemiol. 2000; 152(11):1024-33. DOI: 10.1093/aje/152.11.1024. View

Guillen-Navarro E, Glover-Lopez G . [Monogenic causes of X-linked mental retardation]. Rev Neurol. 2006; 42 Suppl 1:S45-9. View

10.

Barros A, Matijasevich A, Santos I, Halpern R . Child development in a birth cohort: effect of child stimulation is stronger in less educated mothers. Int J Epidemiol. 2009; 39(1):285-94. PMC: 2817089. DOI: 10.1093/ije/dyp272. View

11.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H . Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004; 41(4):241-8. PMC: 1735726. DOI: 10.1136/jmg.2003.017731. View

12.

El-Hazmi M, Al-Swailem A, Al-Mosa N, Al-Jarallah A . Prevalence of mental retardation among children in Saudi Arabia. East Mediterr Health J. 2004; 9(1-2):6-11. View

13.

Daily D, Ardinger H, HOLMES G . Identification and evaluation of mental retardation. Am Fam Physician. 2000; 61(4):1059-67, 1070. View

14.

Fisch G, Simensen R, Tarleton J, Chalifoux M, Holden J, Carpenter N . Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis. Am J Med Genet. 1996; 64(2):356-61. DOI: 10.1002/(SICI)1096-8628(19960809)64:2<356::AID-AJMG24>3.0.CO;2-D. View

15.

Stein Z, Belmont L, Durkin M . Mild mental retardation and severe mental retardation compared: experiences in eight less developed countries. Ups J Med Sci Suppl. 1987; 44:89-96. View

16.

Jelliffe-Pawlowski L, Shaw G, Nelson V, Harris J . Risk of mental retardation among children born with birth defects. Arch Pediatr Adolesc Med. 2003; 157(6):545-50. DOI: 10.1001/archpedi.157.6.545. View

17.

Battaglia A, Carey J . Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet C Semin Med Genet. 2003; 117C(1):3-14. DOI: 10.1002/ajmg.c.10015. View

18.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C . Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006; 140(19):2063-74. DOI: 10.1002/ajmg.a.31416. View

19.

Gonzalez G, Raggio V, Boidi M, Tapie A, Roche L . [Advances in the identification of the aetiology of mental retardation]. Rev Neurol. 2013; 57 Suppl 1:S75-83. View

20.

de Vries B, Pfundt R, Leisink M, Koolen D, Vissers L, Janssen I . Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005; 77(4):606-16. PMC: 1275609. DOI: 10.1086/491719. View