Genetic causes of intellectual disability in a birth cohort: A population-based study
Simone de Menezes Karam,Mariluce Riegel,Sandra Leistner Segal,Têmis Maria Félix,Aluísio J D Barros,Iná S. Santos,Alicia Matijasevich,Roberto Giugliani,Maureen M. Black +8 more
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TLDR
Estimation of 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, thereby increasing the possibility of providing appropriate management and/or genetic counseling.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.read more
Citations
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Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality
Thomas O Crawford,Kaleb Yohay +1 more
TL;DR: The recently published practice parameter concerning the evaluation of the child with global developmental delay (GDD) is flawed by the authors' decision to reinterpret this perfectly clear term, which has always been understood to encompass cognitive delay, in such a fashion that a child with delays in only two of five domains would be thus classified as discussed by the authors.
Journal ArticleDOI
A novel de novo POGZ mutation in a patient with intellectual disability
Bo Tan,Yongyi Zou,Yue Zhang,Rui Zhang,Jianjun Ou,Yidong Shen,Jingping Zhao,Xiaomei Luo,Jing Guo,Lanlan Zeng,Yiqiao Hu,Yu Zheng,Qian Pan,Desheng Liang,Lingqian Wu +14 more
TL;DR: The identification of a novel frameshift mutation in the coding region of the POGZ gene, which occurred de novo in a Chinese patient with ID, broadens the spectrum of POGz mutations and may help to understand the molecular basis of ID and aid genetic counseling.
Journal ArticleDOI
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years
Simone de Menezes Karam,Aluísio J D Barros,Alicia Matijasevich,Iná S. Santos,Luciana Anselmi,Fernando C. Barros,Sandra Leistner-Segal,Têmis Maria Félix,Mariluce Riegel,Sharbel Weidner Maluf,Roberto Giugliani,Maureen M. Black +11 more
TL;DR: For about 40% of children, ID was attributed to nonbiological factors, suggesting that the rate may be reduced with appropriate interventions early in life.
Dissertation
Genetic Basis of Intellectual Disability and Schizophrenia in Selected Omani and UK Families
Al Amri,Ahmed Hamed Hamood +1 more
TL;DR: This thesis describes work carried out into the genetic basis of ID and SZ, which identifies a pathway for potential therapeutic intervention, and facilitates carrier testing and genetic counselling.
Journal ArticleDOI
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
TL;DR: Findings contribute to a growing list of ID disorders caused by CRBN mutations, broaden the spectrum of phenotypes attributable to ARNS-ID and provide new insight into genotype–phenotype correlations betweenCRBN mutations and the aetiology of AR NS-ID.
References
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Journal ArticleDOI
The Worldwide Prevalence of ADHD: A Systematic Review and Metaregression Analysis
Guilherme V. Polanczyk,Maurício Silva de Lima,Bernardo L. Horta,Joseph Biederman,Luis Augusto Rohde +4 more
TL;DR: The findings suggest that geographic location plays a limited role in the reasons for the large variability of ADHD/HD prevalence estimates worldwide and that this variability seems to be explained primarily by the methodological characteristics of studies.
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Clinical assessment of gestational age in the newborn infant
TL;DR: A scoring system for gestational age, based on 10 neurologic and 11 “external” criteria, has been applied to 167 newborn infants and gives consistent results within the first 5 days and is equally reliable in the first 24 hours of life.
Journal ArticleDOI
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more
TL;DR: De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
Journal ArticleDOI
Prevalence of intellectual disability: a meta-analysis of population-based studies.
TL;DR: The prevalence of intellectual disability across all 52 studies included in the meta-analysis was 10.37/1000 population, and the highest rates were seen in countries from low- and middle income countries.
Related Papers (5)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more