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Intellectual disability

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https://www.readbyqxmd.com/read/28105897/-finding-the-person-you-really-are-%C3%A2-on-the-inside
#1
Neil E Clapton, Jonathan Williams, Gemma M Griffith, Robert Sp Jones
This study utilized a mixed methods approach to examine the feasibility and acceptability of group compassion focused therapy for adults with intellectual disabilities (CFT-ID). Six participants with mild ID participated in six sessions of group CFT, specifically adapted for adults with ID. Session-by-session feasibility and acceptability measures suggested that participants understood the group content and process and experienced group sessions and experiential practices as helpful and enjoyable. Thematic analysis of focus groups identified three themes relating to (1) direct experiences of the group, (2) initial difficulties in being self-compassionate and (3) positive emotional changes...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28104412/features-of-the-broader-autism-phenotype-in-people-with-epilepsy-support-shared-mechanisms-between-epilepsy-and-autism-spectrum-disorder
#2
REVIEW
Annie E Richard, Ingrid E Scheffer, Sarah J Wilson
RICHARD, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016.- To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls...
January 16, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28103495/emotion-socialization-and-internalizing-behavior-problems-in-diverse-youth-a-bidirectional-relationship-across-childhood
#3
Naomi V Rodas, Denise A Chavira, Bruce L Baker
Mothers' and fathers' emotion socialization (ES) practices have been widely associated with child socioemotional outcomes. To extend this research, we examined the bidirectional relationship between parent ES practices (supportive and non-supportive parenting) and internalizing behavior problems in children of Anglo and Latino parents. Participants were 182 mothers and 162 fathers and their children with or without intellectual disability (ID). We compared the stability of mother and father ES practices across child ages 4-8...
January 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28103494/factors-associated-with-meeting-physical-activity-guidelines-by-adults-with-intellectual-and-developmental-disabilities
#4
Roger J Stancliffe, Lynda L Anderson
BACKGROUND: Many individuals with intellectual and developmental disabilities (IDD) have sedentary lifestyles. AIMS: (a) compare adults with IDD with the general adult population on adherence to U.S. physical activity (PA) guidelines, and (b) determine what factors predict adherence to PA guidelines by adults with IDD. METHODS: We compared adults with IDD from the 2011-2012 National Core Indicators Adult Consumer Survey (NCI-ACS) with the general U...
January 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28103279/aristaless-related-homeobox-arx-interacts-with-%C3%AE-catenin-bcl9-and-p300-to-regulate-canonical-wnt-signaling
#5
Il-Taeg Cho, Youngshin Lim, Jeffrey A Golden, Ginam Cho
Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with specific transcription factors/cofactors to regulate unique target genes in different cell types. To identify ARX interacting proteins, we performed an unbiased proteomics screen and identified several components of the Wnt/β-catenin signaling pathway, including β-catenin (CTNNB1), B-cell CLL/lymphoma 9 (BCL9) and leucine rich repeat flightless interacting protein 2 (LRRFIP2), in cortical progenitor cells...
2017: PloS One
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#6
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102566/annual-research-review-understudied-populations-within-the-autism-spectrum-current-trends-and-future-directions-in-neuroimaging-research
#7
REVIEW
Allison Jack, Kevin A Pelphrey
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes...
January 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28100473/delineating-the-phenotypic-spectrum-of-bainbridge-ropers-syndrome-12-new-patients-with-de-novo-heterozygous-loss-of-function-mutations-in-asxl3-and-review-of-published-literature
#8
M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D Pilz, S Tomkins
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3...
January 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28099615/do-you-know-this-syndrome-dyspigmentation-along-the-blaschko-lines-caused-by-trisomy-7-mosaicism
#9
Miguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, Renata d'Oliveira, Margarida Venâncio, Ana Moreno
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype...
November 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#10
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28095059/what-s-the-harm-harms-in-research-with-adults-with-intellectual-disability
#11
Katherine E McDonald, Nicole E Conroy, Robert S Olick, The Project Ethics Expert Panel
Scientific advances can improve the lives of adults with intellectual disability, yet concerns that research participation may impose harm impede scientific progress. What counts as harmful can be subjective and perceptions of harm may vary among stakeholders. We studied perspectives on the harmfulness of research events among adults with intellectual disability, family members and friends, disability service providers, researchers, and Institutional Review Board members. We found considerable variance. For example, adults with intellectual disability see exclusion from research as more harmful, but most psychosocial harms as less significant than others...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28095058/efficacy-of-peer-support-arrangements-to-increase-peer-interaction-and-aac-use
#12
Elizabeth E Biggs, Erik W Carter, Jenny Gustafson
Supporting interaction in inclusive settings between students with complex communication needs (CCN) and their peers requires careful planning and support. We used a multiple-probe-across-participants design to investigate the efficacy of collaborative planning and peer support arrangements to increase peer interaction in inclusive classrooms. Participants were four middle school students with CCN who had an intellectual disability and used an iPad with Proloquo2Go as augmentative and alternative communication (AAC)...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28095054/adolescent-siblings-of-individuals-with-and-without-intellectual-and-developmental-disabilities-self-reported-empathy-and-feelings-about-their-brothers-and-sisters
#13
Carolyn M Shivers, Elisabeth M Dykens
Siblings of brothers or sisters with intellectual and developmental disabilities (IDD) are important but understudied family members. As many previous studies have relied on parent report of sibling outcomes, the use of sibling self-report is an important addition to the research. This study assessed the feelings of adolescent siblings toward their brothers or sisters with and without IDD, as well as broader aspects of sibling empathy. Data were collected via a national, online survey from 97 parent-sibling pairs...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28094463/network-over-connectivity-differentiates-autism-spectrum-disorder-from-other-developmental-disorders-in-toddlers-a-diffusion-mri-study
#14
E Conti, J Mitra, S Calderoni, K Pannek, K K Shen, A Pagnozzi, S Rose, S Mazzotti, D Scelfo, M Tosetti, F Muratori, G Cioni, A Guzzetta
Advanced connectivity studies in toddlers with Autism Spectrum Disorder (ASD) are increasing and consistently reporting a disruption of brain connectivity. However, most of these studies compare ASD and typically developing subjects, thus providing little information on the specificity of the abnormalities detected in comparison with other developmental disorders (other-DD). We recruited subjects aged below 36 months who received a clinical diagnosis of Neurodevelopmental Disorder (32 ASD and 16 other-DD including intellectual disability and language disorder) according to DSM-IV TR...
January 17, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28094084/incontinence-and-psychological-symptoms-in-individuals-with-mowat-wilson-syndrome
#15
Justine Niemczyk, Stewart Einfeld, David Mowat, Monika Equit, Catharina Wagner, Leopold Curfs, Alexander von Gontard
BACKGROUND: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. AIMS: The aim was to investigate incontinence and psychological problems in MWS. METHODS AND PROCEDURES: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) were recruited through a MWS support group...
January 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#16
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28092720/-rethinking-intellectual-disability-a-professor-a-family-and-an-exceptional-child
#17
Ana Belén Martínez García
No abstract text is available yet for this article.
September 2016: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/28092643/physical-activity-and-sedentary-time-among-children-with-disabilities-at-school
#18
Cindy H P Sit, Thomas L McKenzie, Ester Cerin, Bik C Chow, Wendy Y Huang, Jie Yu
PURPOSES: Physical activity (PA) is important for the development of children with disabilities, but rarely does this population meet the recommended standards. Schools are salient locations for PA, but little is known about how specific school settings affect the PA of children with diverse disabilities. We assessed PA and sedentary time (ST) of children with disabilities in three school settings (physical education, recess, lunchtime). METHODS: Participants included 259 children from 13 Hong Kong special schools for five primary disabilities: visual impairments, hearing impairments, physical disabilities, intellectual disabilities, and social development problems...
February 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28090702/intellectual-disability-and-patient-activation-after-release-from-prison-a-prospective-cohort-study
#19
J T Young, C Cumming, K van Dooren, N G Lennox, R Alati, M J Spittal, L Brophy, D B Preen, S A Kinner
BACKGROUND: Intellectual disability and patient activation may be important drivers of inequities in health service access and health outcomes for people with intellectual disability transitioning from prison to the community. We assessed the association between intellectual disability and patient activation after prison release and examined whether this association varied, depending on whether intellectual disability was identified prior to prison release. METHODS: Overall, 936 prisoners were screened for intellectual disability by using the Hayes Ability Screening Index and completed the Patient Activation Measure (PAM) within 6 weeks of prison release and again at 1, 3 and 6 months post-release...
January 16, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28090701/the-nationwide-register-based-prevalence-of-intellectual-disability-during-childhood-and-adolescence
#20
H Westerinen, M Kaski, L J Virta, H Kautiainen, K H Pitkälä, M Iivanainen
BACKGROUND: Many studies have evaluated the prevalence of intellectual disability (ID) by focusing on different ages during childhood and adolescence. Although the prevalence of ID is higher in older age groups, how cumulative prevalence increases, and what level it reaches before adulthood, remains unclear. METHOD: We used Care Register for Health Care to retrieve information on individuals born in 1996-2007 with any of the inclusion diagnoses of ID (F7 group and/or aetiological diagnoses) for the period 1996 to 2013...
January 16, 2017: Journal of Intellectual Disability Research: JIDR
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