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Intellectual Disability

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Adult outcomes of childhood bronchiectasis.

Dawn Sibanda, Rosalyn Singleton, John Clark, Christine Desnoyers, Ellen Hodges, Gretchen Day, Gregory Redding,

Recent literature has highlighted the importance of transition from paediatric to adult care for children with chronic conditions. Non-cystic fibrosis bronchiectasis is an important cause of respiratory morbidity in low-income countries and in indigenous children from affluent countries; however, there is little information about adult outcomes of childhood bronchiectasis. We ... Read more >>

Int J Circumpolar Health (International journal of circumpolar health)
[2020, 79(1):1731059]

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Autistic Self Advocacy in the Developmental Disability Movement.

Ari Ne'eman, Julia Bascom,

Am J Bioeth (The American journal of bioethics : AJOB)
[2020, 20(4):25-27]

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A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

Weimin Jia, Qi Hu, Yanling Wu, Jiarui Wang, Zhenxing Liu, Xianqin Zhang,

BACKGROUND:X-linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the UBE2A gene, or larger deletions of Xq24 encompassing UBE2A. ... Read more >>

J Gene Med (The journal of gene medicine)
[2020, :e3191]

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Biopsychosocial factors associated with depression and anxiety in older adults with intellectual disability: results of the wave 3 Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing.

L Bond, R Carroll, N Mulryan, M O'Dwyer, J O'Connell, R Monaghan, F Sheerin, P McCallion, M McCarron,

BACKGROUND:Depression and anxiety are amongst the most prevalent mental health disorders in the older population with intellectual disability (ID). There is a paucity of research that pertains to associative biopsychosocial factors for depression and anxiety in this population. The aim of this study is to determine the biopsychosocial factors associated ... Read more >>

J Intellect Disabil Res (Journal of intellectual disability research : JIDR)
[2020, :]

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Caregivers' and parents' explanatory models of intellectual disability in Khayelitsha, Cape Town, South Africa.

Siyabulela Mkabile, Leslie Swartz,

BACKGROUND:Post-apartheid, understanding and management of intellectual disability remain poor in South Africa, complicated by various contextual and cultural explanations used to describe and conceptualize this condition. METHOD:We conducted 20 semi-structured interviews with primary caregivers and parents of children with intellectual disability residing in Khayelitsha, a low-income setting in Cape Town, ... Read more >>

J Appl Res Intellect Disabil (Journal of applied research in intellectual disabilities : JARID)
[2020, :]

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A nurses' ethical commitment to people with intellectual and developmental disabilities.

Kathleen Fisher, Catherine Robichaux, Jeanie Sauerland, Felicia Stokes,

Aim: This article explores the issues of knowledge deficits of healthcare professionals in meeting the needs of people with IDD throughout the life span, and to identify factors that contribute to these deficits. Although statistics vary due to census results and the presence of a "hidden population," approximately 1%-3% of ... Read more >>

Nurs Ethics (Nursing ethics)
[2020, :969733019900310]

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Functional diversification of Ser-Arg rich protein kinases to control ubiquitin-dependent neurodevelopmental signalling

Francisco Bustos, Anna Segarra-Fas, Gino Nardocci, Andrew Cassidy, Odetta Antico, Lennart Brandenburg, Thomas Macartney, Rachel Toth, James Hastie, Robert Gourlay, Joby Vargese, Renata Soares, Martin Montecino, Greg Michael Findlay,

Conserved protein kinases with core cellular functions have been frequently redeployed during metazoan evolution to regulate specialized developmental processes. Ser-Arg Repeat Protein Kinase (SRPK) is one such conserved eukaryotic kinase, which controls mRNA splicing. Surprisingly, we show that SRPK has acquired a novel function in regulating a neurodevelopmental ubiquitin signalling ... Read more >>

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Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Early Autism and Developmental Disabilities Monitoring Network, Six Sites, United States, 2016.

Kelly A Shaw, Matthew J Maenner, Jon Baio, , Anita Washington, Deborah L Christensen, Lisa D Wiggins, Sydney Pettygrove, Jennifer G Andrews, Tiffany White, Cordelia Robinson Rosenberg, John N Constantino, Robert T Fitzgerald, Walter Zahorodny, Josephine Shenouda, Julie L Daniels, Angelica Salinas, Maureen S Durkin, Patricia M Dietz,

PROBLEM/CONDITION:Autism spectrum disorder (ASD). PERIOD COVERED:2016. DESCRIPTION OF SYSTEM:The Early Autism and Developmental Disabilities Monitoring (Early ADDM) Network, a subset of the overall ADDM Network, is an active surveillance program that estimates ASD prevalence and monitors early identification of ASD among children aged 4 years. Children included in surveillance year ... Read more >>

MMWR Surveill Summ (Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002))
[2020, 69(3):1-11]

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Small Steps in Fitness, Major Leaps in Health for Adults With Intellectual Disabilities.

Alyt Oppewal, Dederieke Maes-Festen, Thessa Irena Maria Hilgenkamp,

Physical fitness is positively related to health outcomes like morbidity and all-cause mortality, with minimally required cutoff values to generate those health benefits. Individuals with intellectual disability (ID) exhibit very low fitness levels well below those cutoff values. Our novel hypothesis is that even among very unfit, older adults with ... Read more >>

Exerc Sport Sci Rev (Exercise and sport sciences reviews)
[2020, 48(2):92-97]

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Integrating Health Promotion in the Everyday Life of People With Intellectual Disability-The Extent to Which Current Initiatives Take Context Into Account.

Noortje M J Kuijken, Jenneken Naaldenberg, Kristel Vlot-van Anrooij, Maria W G Nijhuis-van der Sanden, Henny M J van Schrojenstein, Lantman-de Valk, Geraline L Leusink,

Taking the dynamics of everyday life into account is important for health behavior change. Surveys were conducted to gain insight into available health promoting physical activity and nutrition initiatives in the everyday life of people with intellectual disability (ID). Researchers considered characteristics of the initiatives and the attention they give ... Read more >>

Intellect Dev Disabil (Intellectual and developmental disabilities)
[2020, 58(2):170-179]

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A brief history of the evolution of the Parliamentary Scholar Scheme.

Keir Jones, Asit Biswas,

BJPsych Bull (BJPsych bulletin)
[2020, 44(2):85-86]

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Katherine A Benson, Maire White, Nicholas M Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel Costello, Colin Doherty, Brendan Dunleavey, Hany El-Naggar, Nisha Gangadharan, Sinéad Heavin, Hugh Kearney, Nicholas J Lench, John Lynch, Mark McCormack, Mary O' Regan, Karl Podesta, Kevin Power, Anthony S Rogers, Charles A Steward, Brian Sweeney, David Webb, Mary Fitzsimons, Marie Greally, Norman Delanty, Gianpiero L Cavalleri,

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, :]

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The tale of two genes: from next-generation sequencing to phenotype.

Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, Christina Hung, Olaf Bodamer,

An 18-yr-old man with a history of intellectual disability, craniofacial dysmorphism, seizure disorder, and obesity was identified to carry a de novo, pathogenic variant in ASXL1 (c.4198G>T; p.E1400X) associated with the diagnosis of Bohring-Opitz syndrome based on exome sequencing. In addition, he was identified to carry a maternally inherited and ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2020, 6(2):]

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Association of Preeclampsia in Term Births With Neurodevelopmental Disorders in Offspring.

Bob Z Sun, Dag Moster, Quaker E Harmon, Allen J Wilcox,

Importance:Preeclampsia during pregnancy has been linked to an increased risk of cerebral palsy in offspring. Less is known about the role of preeclampsia in other neurodevelopmental disorders. Objective:To determine the association between preeclampsia and a range of adverse neurodevelopmental outcomes in offspring after excluding preterm births. Design, Setting, and Participants:This ... Read more >>

JAMA Psychiatry (JAMA psychiatry)
[2020, :]

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Enhanced participation or just another activity? The social shaping of iPad use for youths with intellectual disabilities.

Charlotta Isaksson, Elisabet Björquist,

The use of smartphones and tablet devices in activities is believed to have great potential for enhancing the participation of people with intellectual disabilities. However, these technologies, in themselves, do not contribute to participation. What matters is how they are used. Employing the concept of domestication and insights gained from ... Read more >>

J Intellect Disabil (Journal of intellectual disabilities : JOID)
[2020, :1744629520911311]

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Healthcare utilisation patterns among older people with intellectual disability and with affective and anxiety diagnoses in comparison with the general population.

Nadia El Mrayyan, Christina Bökberg, Jonas Eberhard, Gerd Ahlström,

Objectives: This study investigates specialist healthcare visits of older people with intellectual disability ID having affective and anxiety diagnoses in comparison with the general population, as well as across different levels of ID, behavioural impairment, and living in special housing in Sweden.Method: The study is a retrospective national-register-based study from ... Read more >>

Aging Ment Health (Aging & mental health)
[2020, :1-10]

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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Jennifer Malinowski, David T Miller, Laurie Demmer, Jennifer Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T Scheuner, Anne Chun-Hui Tsai, Scott E Hickey, Jun Shen, ,

PURPOSE:Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, :]

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A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome.

Orhan Gorukmez, Ozlem Gorukmez, Arzu Ekici,

Introduction: Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). Case report: A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C > T/p.Gln749*) leading to a premature stop codon in exon 6 of the ... Read more >>

Fetal Pediatr Pathol (Fetal and pediatric pathology)
[2020, :1-5]

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Schizophrenia in a patient with full mutation of Fragile X gene and intellectual disability: a 'STEP' towards better understanding.

Partha Das, Chloe F Johnston, Serena Hossain,

The Fragile X syndrome is the leading hereditary cause of intellectual disability and Autism Spectrum Disorders. There is paucity of information about psychoses in such patients with little follow up. We report a case of schizophrenia in a male patient diagnosed with Fragile X syndrome. The patient has been followed ... Read more >>

Psychiatr. Genet. (Psychiatric genetics)
[2020, :]

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When Do those "Risk-Taking Adolescents" Take Risks? The Combined Effects of Risk Encouragement by Peers, Mild-to-Borderline Intellectual Disability and Sex.

Eline Wagemaker, Hilde M Huizenga, Tycho J Dekkers, Annematt L Collot d'Escury-Koenigs, Elske Salemink, Anika Bexkens,

Adolescents with mild to borderline intellectual disability (MBID) show more daily life risk taking than typically developing adolescents. To obtain insight in when these "risk-taking adolescents" especially take risks, we investigated main and interaction effects of (a) MBID, (b) sex, and (c) type of peer influence on risk taking. The ... Read more >>

J Abnorm Child Psychol (Journal of abnormal child psychology)
[2020, 48(4):573-587]

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'We need to share our stories': the lives of Pakistanis with intellectual disability and their guardians.

M Patka, J Wallin-Ruschman, B A Al Rahma, A Zar, H Bin Nauman, J M Sharif, S Ikram, T Ul Hasan, A Naeem, G M Sharif, N Mehboob, T Azim, Z Khanam,

INTRODUCTION:The experiences of Pakistanis with intellectual disabilities (IDs) and their family members have been underexplored empirically. METHOD:The present study sought to address this gap by understanding the lives of five Special Olympics Pakistan athletes and their guardians through PhotoVoice. FINDINGS:Through thematic analysis, we present the primary theme concerning Pakistan's cultural ... Read more >>

J Intellect Disabil Res (Journal of intellectual disability research : JIDR)
[2020, :]

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Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.

Martin D Salazar, Nathan B Zelt, Robert Saldivar, Charles P Kuntz, Sheng Chen, Wesley D Penn, Richard Bonneau, Julia Koehler Leman, Jonathan P Schlebach,

More than 80 loss-of-function (LOF) mutations in the SLC6A8 creatine transporter (hCRT1) are responsible for cerebral creatine deficiency syndrome (CCDS), which gives rise to a spectrum of neurological defects, including intellectual disability, epilepsy, and autism spectrum disorder. To gain insight into the nature of the molecular defects caused by these ... Read more >>

Biochemistry (Biochemistry)
[2020, :]

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A prospective study of hospital episodes of adults with intellectual disability.

T Iacono, C Bigby, J Douglas, J Spong,

BACKGROUND:Previous research has shown poor hospital experiences and dire outcomes for people with intellectual disability. The main objective of this study was to prospectively track episodes for adults with intellectual disability (ID) in Australian hospitals, with a focus on indications of the quality of care provided. METHODS:A prospective audit of ... Read more >>

J Intellect Disabil Res (Journal of intellectual disability research : JIDR)
[2020, :]

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Resilience in the face of adversity in adults with an intellectual disability: A literature review.

Femke Scheffers, Eveline van Vugt, Xavier Moonen,

BACKGROUND:Persons with an intellectual disability are at a higher risk of experiencing adversities. The concept of resilience offers promising insights into facilitating personal growth after adversity. The current study aims at providing an overview of the current research on resilience and the way this can contribute to quality of life ... Read more >>

J Appl Res Intellect Disabil (Journal of applied research in intellectual disabilities : JARID)
[2020, :]

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences.

Kate Baker, Rory T Devine, Elise Ng-Cordell, F Lucy Raymond, , Claire Hughes,

BACKGROUND:Intellectual disability has a complex effect on the well-being of affected individuals and their families. Previous research has identified multiple risk and protective factors for parental mental health, including socioeconomic circumstances and child behaviour. AIMS:This study explored whether genetic cause of childhood intellectual disability contributes to parental well-being. METHOD:Children from ... Read more >>

Br J Psychiatry (The British journal of psychiatry : the journal of mental science)
[2020, :1-8]

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