Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.

Abstract:

BACKGROUND:Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. AIMS:To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). METHODS:In 2004, maternity hospitals were visited daily and births were identified. Live-born infants (n = 4,231) whose family lived in the urban area have been followed for several years. At the age of 2 and 4 years, performances in development and intelligence tests were evaluated using the Battelle Developmental Inventory and Wechsler Intelligence Scale, respectively. Children considered as having developmental delay were invited to attend a genetic evaluation. RESULTS:At 4 years of age, the prevalence of ID was 4.5%, and the etiology was classified into 5 groups: environmental (44.4%), genetic (20.5%), idiopathic (12.6%), neonatal sequelae (13.2%), other diseases (9.3%). Most children presented impairment in two or more areas of adaptive behavior. There was no difference in prenatal care attendance or maternal schooling among the groups. CONCLUSION:For about 40% of children, ID was attributed to nonbiological factors, suggesting that the rate may be reduced with appropriate interventions early in life.

journal_name

Public Health Genomics

journal_title

Public health genomics

authors

Karam SM,Barros AJ,Matijasevich A,Dos Santos IS,Anselmi L,Barros F,Leistner-Segal S,Félix TM,Riegel M,Maluf SW,Giugliani R,Black MM

doi

10.1159/000448912

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

290-7

issue

5

eissn

1662-4246

issn

1662-8063

pii

000448912

journal_volume

19

pub_type

杂志文章
  • Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.

    abstract:BACKGROUND/AIMS:Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups conti...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000490519

    authors: Moore EG,Roche M,Rini C,Corty EW,Girnary Z,O'Daniel JM,Lin FC,Corbie-Smith G,Evans JP,Henderson GE,Berg JS

    更新日期:2017-01-01 00:00:00

  • Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study.

    abstract:BACKGROUND:New genetic associations with obesity are rapidly being discovered. People's causal beliefs about obesity may influence their obesity-related behaviors. Little is known about genetic compared to lifestyle causal beliefs regarding obesity, and obesity-related diseases, among minority populations. This study e...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000343793

    authors: Sanderson SC,Diefenbach MA,Streicher SA,Jabs EW,Smirnoff M,Horowitz CR,Zinberg R,Clesca C,Richardson LD

    更新日期:2013-01-01 00:00:00

  • National registries of rare diseases in Europe: an overview of the current situation and experiences.

    abstract::The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the 'Building Consensus and Synergies for the EU Registration of RD Patients in ...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000365897

    authors: Taruscio D,Vittozzi L,Choquet R,Heimdal K,Iskrov G,Kodra Y,Landais P,Posada M,Stefanov R,Steinmueller C,Swinnen E,Van Oyen H

    更新日期:2015-01-01 00:00:00

  • Influence of family history of cardiovascular disease on clinicians' preventive recommendations and subsequent adherence of patients without cardiovascular disease.

    abstract:BACKGROUND:Family history of cardiovascular disease (CVD) is an independent risk factor for CVD. Therefore, efforts to prevent CVD among asymptomatic persons with a family history are warranted. Little is known about preventive recommendations clinicians offer their patients with a family history of CVD, and adherence ...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000293991

    authors: Zlot AI,Valdez R,Han Y,Silvey K,Leman RF

    更新日期:2010-01-01 00:00:00

  • Molecular mechanisms of human papillomavirus-induced carcinogenesis.

    abstract::Approximately 20% of all cancers are associated with infectious agents. Among them, human papillomaviruses (HPVs) are very common and are now recognized as the etiological agent of cervical cancer, the second most common cancer in women worldwide, and they are increasingly linked with other forms of dysplasia. Carcino...

    journal_title:Public health genomics

    pub_type: 杂志文章,评审

    doi:10.1159/000214918

    authors: Lehoux M,D'Abramo CM,Archambault J

    更新日期:2009-01-01 00:00:00

  • Public and biobank participant attitudes toward genetic research participation and data sharing.

    abstract::Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward r...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000276767

    authors: Lemke AA,Wolf WA,Hebert-Beirne J,Smith ME

    更新日期:2010-01-01 00:00:00

  • Factors Influencing Participation in Biospecimen Research among Parents of Youth with Mental Health Conditions.

    abstract:INTRODUCTION:Biospecimens are tools that have the potential to improve early identification and treatment for autism spectrum disorders (ASD) and bipolar disorders (BPD). Unfortunately, most biobanks lack racial/ethnic diversity. One challenge to including a diverse sample of youth is recruiting and engaging families. ...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000509120

    authors: Owen-Smith AA,Sesay MM,Lynch FL,Massolo M,Cerros H,Croen LA

    更新日期:2020-01-01 00:00:00

  • The Creation and Management of Innovations in Healthcare and ICT: The European and African Experience.

    abstract::The purpose of the study was to gain new insights into innovation systems by comparing state-of-the-art of existing approaches of innovation creation and innovation management in healthcare and ICT. It is unique, in that it compares countries in Africa with countries in Europe in order to identify similarities and dif...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000499853

    authors: Schee Genannt Halfmann S,Evangelatos N,Kweyu E,DeVilliers C,Steinhausen K,van der Merwe A,Brand A

    更新日期:2018-01-01 00:00:00

  • Professional education and training in public health genomics: a working policy developed on behalf of the public health genomics European network.

    abstract::Public health genomics (PHG) is an area of public health that is vital if we are to ensure that scientific advances in genomics are effectively and responsibly translated into public and health policies. Education and training in PHG for relevant professionals in public health and wider health and public policy was th...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000200019

    authors: Burton H,Adams M

    更新日期:2009-01-01 00:00:00

  • Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop.

    abstract:BACKGROUND:An international workshop on cancer predisposition cascade genetic screening for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) took place in Switzerland, with leading researchers and clinicians in cascade screening and hereditary cancer from different disciplines. The purpose of the wor...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000496495

    authors: Nikolaidis C,Ming C,Pedrazzani C,van der Horst T,Kaiser-Grolimund A,Ademi Z,Bührer-Landolt R,Bürki N,Caiata-Zufferey M,Champion V,Chappuis PO,Kohler C,Erlanger TE,Graffeo R,Hampel H,Heinimann K,Heinzelmann-Schwarz V,Kur

    更新日期:2018-01-01 00:00:00

  • Establishing the Evidence Bar for Molecular Diagnostics in Personalised Cancer Care.

    abstract::While personalised cancer medicine holds great promise, targeting therapies to the biological characteristics of patients is limited by the number of validated biomarkers currently available. The implementation of biomarkers has undergone many challenges with few biomarkers reaching cancer patients in the clinic. Ther...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000441556

    authors: Schneider D,Bianchini G,Horgan D,Michiels S,Witjes W,Hills R,Plun-Favreau J,Brand A,Lawler M,EAPM Working Group for Oncology Clinical Research.

    更新日期:2015-01-01 00:00:00

  • Public health genomics in Spain: the status of a non-existing reality.

    abstract:AIMS:The Public Health Genomics European Network (PHGEN) aimed, among other objectives, to identify the geographical variability and legal barriers of genomic medicine and public health genomics (PHG) at an international market, where the lack of policy coherence may limit its development in Europe. PHGEN supported the...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000335550

    authors: Gutiérrez-Ibarluzea I,Ibarreta D,Malats N,Spanish National Task Force on Public Health Genomics.

    更新日期:2012-01-01 00:00:00

  • Genomics for public health improvement: relevant international ethical and policy issues around genome-wide association studies and biobanks.

    abstract::Genome-wide association studies and biobanks are at the forefront of genomics research and possess unprecedented potential to improve public health. However, for public health genomics to ultimately fulfill its potential, technological and scientific advances alone are insufficient. Scientists, ethicists, policy maker...

    journal_title:Public health genomics

    pub_type: 杂志文章,评审

    doi:10.1159/000341500

    authors: Pang T

    更新日期:2013-01-01 00:00:00

  • Fighting outbreaks with bacterial genomics: case review and workflow proposal.

    abstract:BACKGROUND:Disease outbreak investigation is a key aspect of public health. Whole-genome sequencing of bacterial pathogen based on new generation high-throughput sequencing technologies has facilitated outbreak investigations recently. Whilst the approach has become more affordable and accessible to research and clinic...

    journal_title:Public health genomics

    pub_type: 杂志文章,评审

    doi:10.1159/000342770

    authors: Cheung MK,Kwan HS

    更新日期:2012-01-01 00:00:00

  • Efficient identification and referral of low-income women at high risk for hereditary breast cancer: a practice-based approach.

    abstract:BACKGROUND:Identification of low-income women with the rare but serious risk of hereditary cancer and their referral to appropriate services presents an important public health challenge. We report the results of formative research to reach thousands of women for efficient identification of those at high risk and exped...

    journal_title:Public health genomics

    pub_type: 杂志文章,随机对照试验

    doi:10.1159/000336419

    authors: Joseph G,Kaplan C,Luce J,Lee R,Stewart S,Guerra C,Pasick R

    更新日期:2012-01-01 00:00:00

  • Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study.

    abstract:OBJECTIVE:We explore the stability of parental attitudes to the ethical issues raised by the return of genomic research results. METHODS:A 19-item questionnaire was mailed to participants in a large genome research consortium 18 months following a baseline survey. We describe the stability of parental attitudes to (a)...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000439244

    authors: Fernandez CV,OʼConnell C,Ferguson M,Orr AC,Robitaille JM,Knoppers BM,McMaster CR

    更新日期:2015-01-01 00:00:00

  • Using a Historical Lens to Envision the Next Generation of Genomic Translation Research.

    abstract:BACKGROUND:The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in p...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000435832

    authors: McBride CM,Abrams LR,Koehly LM

    更新日期:2015-01-01 00:00:00

  • Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

    abstract:BACKGROUND:Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses t...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000446511

    authors: Olwi D,Merdad L,Ramadan E

    更新日期:2016-01-01 00:00:00

  • Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.

    abstract:BACKGROUND:Nutrigenetic tests are often considered to be less serious compared to other health-related genetic tests, although they share similar ethical concerns. Nutrigenetic tests are mainly available through direct-to-consumer genetic testing (DTC GT) and increasing in popularity. OBJECTIVE:To analyze the contents...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000503977

    authors: De S,Pietilä AM,Iso-Touru T,Hopia A,Tahvonen R,Vähäkangas K

    更新日期:2019-01-01 00:00:00

  • Capacity-building in human genetics for developing countries: initiatives and perspectives in sub-Saharan Africa.

    abstract:BACKGROUND:Stakeholders who are committed to bridge the gap in genetics services need to be aware of current initiatives in sub-Saharan Africa. METHODS:We reviewed selected experiences from African geneticists that led to specific recommendations. RESULTS:The initiation of prenatal diagnosis of sickle cell anaemia fo...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000294171

    authors: Wonkam A,Muna W,Ramesar R,Rotimi CN,Newport MJ

    更新日期:2010-01-01 00:00:00

  • Psychological and behavioral responses to genetic test results indicating increased risk of obesity: does the causal pathway from gene to obesity matter?.

    abstract:BACKGROUND:Common obesity-associated genetic variants may exert their effects through increasing eating or decreasing metabolism. Such differences might influence individual responses to obesity genetic test results. METHODS:This was an experimental analogue study: 191 participants were asked to imagine they had recei...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000217794

    authors: Sanderson SC,Persky S,Michie S

    更新日期:2010-01-01 00:00:00

  • The necessity of broad consent and complementary regulations for the protection of personal data in biobanks: what can we learn from the German case?

    abstract::In order to follow population-based approaches for certain causes and risks of illnesses, more and more biobanks have been set up during the last years. Here, samples and personal data of the donors are collected and saved, whereby concrete research aims, at the time of storage of the bio-probes and the related data, ...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000336604

    authors: Taupitz J,Weigel J

    更新日期:2012-01-01 00:00:00

  • Perspectives on Translational Genomics and Public Health in India.

    abstract::It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged <5 years and adults aged >60 years enhances our preparedness for any eventual...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000442518

    authors: Chakrabarty S,Kabekkodu SP,Brand A,Satyamoorthy K

    更新日期:2016-01-01 00:00:00

  • Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.

    abstract:BACKGROUND/AIMS:To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. METHODS:Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test res...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000455006

    authors: Roberts JS,Gornick MC,Carere DA,Uhlmann WR,Ruffin MT,Green RC

    更新日期:2017-01-01 00:00:00

  • Ethical, legal, and social issues in health technology assessment for prenatal/preconceptional and newborn screening: a workshop report.

    abstract::Prenatal/preconceptional and newborn screening programs have been a focus of recent policy debates that have included attention to ethical, legal, and social issues (ELSIs). In parallel, there has been an ongoing discussion about whether and how ELSIs may be addressed in health technology assessment (HTA). We conducte...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000153430

    authors: Potter BK,Avard D,Entwistle V,Kennedy C,Chakraborty P,McGuire M,Wilson BJ

    更新日期:2009-01-01 00:00:00

  • Use and Impact of the 21-Gene Recurrence Score in Relation to the Clinical Risk of Developing Metastases in Early Breast Cancer Patients in the Netherlands.

    abstract:BACKGROUND:The nationwide use of the 21-gene recurrence score (21-RS) and implications regarding chemotherapy administration in relation to clinical risk in early breast cancer patients are investigated. METHODS:Breast cancer patients surgically treated between 2014 and 2016 were selected from the Netherlands Cancer R...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000495742

    authors: Schreuder K,Kuijer A,Bentum S,van Dalen T,Siesling S

    更新日期:2018-01-01 00:00:00

  • Testing an online, dynamic consent portal for large population biobank research.

    abstract:BACKGROUND:Michigan's BioTrust for Health, a public health research biobank comprised of residual dried bloodspot (DBS) cards from newborn screening contains over 4 million samples collected without written consent. Participant-centric initiatives are IT tools that hold great promise to address the consent challenges i...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000366128

    authors: Thiel DB,Platt J,Platt T,King SB,Fisher N,Shelton R,Kardia SL

    更新日期:2015-01-01 00:00:00

  • Transfusion-dependent thalassemia in Northern Sarawak: a molecular study to identify different genotypes in the multi-ethnic groups and the importance of genomic sequencing in unstudied populations.

    abstract:BACKGROUND:Although thalassemia is a genetic hemoglobinopathy in Malaysia, there is limited data on thalassemia mutations in the indigenous groups. This study aims to identify the types of globin gene mutations in transfusion-dependent patients in Northern Sarawak. METHODS:Blood was collected from 32 patients from the...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000368342

    authors: Tan JA,Chin SS,Ong GB,Mohamed Unni MN,Soosay AE,Gudum HR,Kho SL,Chua KH,Chen JJ,George E

    更新日期:2015-01-01 00:00:00

  • Intentions to donate to a biobank in a national sample of African Americans.

    abstract:BACKGROUND/AIMS:Despite the investments being made to develop biobanks, African Americans are under-represented in genomic studies. We identified factors having significant independent associations with intentions to donate personal health information and blood and/or tissue samples to a biobank in a national random sa...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000360472

    authors: McDonald JA,Vadaparampil S,Bowen D,Magwood G,Obeid JS,Jefferson M,Drake R,Gebregziabher M,Hughes Halbert C

    更新日期:2014-01-01 00:00:00

  • The cost effectiveness of screening newborns for congenital adrenal hyperplasia.

    abstract:OBJECTIVE:To assess the cost effectiveness of newborn screening for congenital adrenal hyperplasia (CAH) in the U.S. newborn population. METHODS:We constructed a decision model to estimate the incremental cost-effectiveness ratio (ICER) of CAH screening compared to a strategy of no screening. Two types of cost effecti...

    journal_title:Public health genomics

    pub_type: 杂志文章

    doi:10.1159/000156115

    authors: Yoo BK,Grosse SD

    更新日期:2009-01-01 00:00:00