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Intellectual And Disability

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https://www.readbyqxmd.com/read/30340779/-children-with-high-potential-and-difficulties-contributions-of-clinical-research
#1
S Tordjman, L Vaivre-Douret, S Chokron, S Kermarrec
We have been sensitized to children with high intellectual potential (HIP) having difficulties given the number of children consulting in our outpatient medico-psychological centres for scholastic problems (possibly leading to school failure), anxiety disorders or behavioral disorders such as attention deficit/hyperactivity disorder (ADHD), and in which a high intellectual potential was discovered during psychological assessments. It is the contrast, and more precisely the paradox, between the high intellectual potential of these children and their scholastic difficulties (including school failure), and the psychic suffering expressed by some of them, which led us to question, challenge and propose therapeutic and educational care adapted to these children...
October 16, 2018: L'Encéphale
https://www.readbyqxmd.com/read/30340478/cerebral-palsy-in-moldova-subtypes-severity-and-associated-impairments
#2
Ecaterina Gincota Bufteac, Guro L Andersen, Vik Torstein, Reidun Jahnsen
BACKGROUND: Moldova is ranked as one of the countries in Europe with the lowest income per capita and with a relatively high infant and maternal mortality rate. Information on neurodisabilities in general is limited, and regarding cerebral palsy (CP) in particular, it is completely lacking. The aim of this study was therefore to make a crude estimate of the prevalence of CP and to describe subtypes and the severity of motor impairments and associated problems in this country. METHODS: Children with CP born 2009-2010, attending the National Hospital Institute of Mother and Child, the reference hospital for ~ 75% of children in Moldova with neurological disabilities, were identified from medical records...
October 19, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/30339115/an-alternative-perspective-on-cooper-et-al-s-finding-of-a-high-incidence-of-mania-in-individuals-with-intellectual-disabilities
#3
Asit Baran Biswas, Lesley Thoms
No abstract text is available yet for this article.
November 2018: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/30338591/a-cross-sectional-study-to-evaluate-the-oral-health-status-of-children-with-intellectual-disabilities-in-the-national-capital-region-of-india-delhi-ncr
#4
A Makkar, K R Indushekar, B G Saraf, D Sardana, N Sheoran
BACKGROUND: Children with intellectual disabilities (ID) have usually been reported to have poorer levels of oral hygiene and higher prevalence of dental caries than their compeers. The present study was conducted to assess the status of dental caries and oral hygiene in different categories of institutionalised children with ID (syndromic and non-syndromic) registered in various special schools of Delhi (National Capital Region, India). METHODS: The present cross sectional study was conducted on 269 children [52 with cerebral palsy (CP), 35 with Down syndrome (DS), 30 with autism and 152 with non-syndromic intellectual disability] attending nine special schools who were examined for dental caries [Decayed, Missing and Filled Teeth index for permanent teeth (DMFT); decayed, missing/indicated for extraction, filled index for primary teeth (dmft) and prevalence of caries] and oral hygiene status [Oral Hygiene Index-simplified (OHI-S)]...
October 18, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/30337205/neurotransmitter-trafficking-defect-in-a-patient-with-clathrin-cltc-variation-presenting-with-intellectual-disability-and-early-onset-parkinsonism
#5
Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F Hamdan, Nenad Blau, Alberto Burlina, Marco Tartaglia, Vincenzo Leuzzi
INTRODUCTION: Clathrins play a key role in endocytosis, recycling, and trafficking as well as the generation of presynaptic vesicles. We report a new clinical condition associated with a de novo variant in the CLTC gene, which encodes the clathrin heavy polypeptide. CASE REPORT: This 30-year-old woman presented with a developmental disorder during childhood that progressed to mild cognitive decline in late childhood and relapsing-remitting hypokinetic-rigid syndrome with severe achalasia, weight loss, and mood disorder in adulthood...
October 11, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30336798/dynamic-patterns-of-three-staff-members-interacting-with-a-client-with-an-intellectual-disability-and-challenging-behavior-suggestions-for-coaching
#6
Arno Willems, Petri Embregts, Maarten Wijnants, Lex Hendriks, Anna Bosman
In relationships between staff members and clients with intellectual disabilities (ID) and challenging behavior (CB) it is important to study their bidirectional dynamic interactions. In the present study three staff members were recorded on video during a daily bathing session with the same client with ID and CB. The video codings were analyzed using Cross Recurrence Quantification Analysis (CRQA) and based on the categories of Leary and Banjamin's interpersonal models. CRQA analyses demonstrated different synchronization levels of the three dyads with respect to affiliation and control...
October 2018: Nonlinear Dynamics, Psychology, and Life Sciences
https://www.readbyqxmd.com/read/30336554/correlates-of-sedentary-behaviour-in-adults-with-intellectual-disabilities-a-systematic-review
#7
REVIEW
Alyt Oppewal, Thessa I M Hilgenkamp, Liselotte Schäfer Elinder, Ellen Freiberger, Pauli Rintala, Myriam Guerra-Balic, Maria Giné-Garriga, Antonio Cuesta-Vargas, Guillermo R Oviedo, Oriol Sansano-Nadal, Rocio Izquierdo-Gómez, Ingi Einarsson, Antti Teittinen, Craig A Melville
Individuals with intellectual disabilities (ID) are at high risk for high levels of sedentary behaviour. To inform the development of programmes to reduce sedentary behaviour, insight into the correlates is needed. Therefore, the aim of this study is to review the evidence on correlates of sedentary behaviour in adults with ID. We performed a systematic literature search in Ovid Medline, Ovid Embase, Web of Science and Google Scholar up to 19 January 2018, resulting in nine included studies that were published from 2011 to 2018...
October 17, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/30335415/differences-in-visuospatial-processing-in-individuals-with-nonverbal-learning-disability-or-autism-spectrum-disorder-without-intellectual-disability
#8
Irene C Mammarella, Ramona Cardillo, Leonardo Zoccante
OBJECTIVE: Although previous reports produced converging empirical evidence of a core deficit on visuospatial processing in children with a nonverbal learning disability (NLD), few studies compared the visuospatial profile of individuals with an autism spectrum disorder (ASD) or NLD in visuoconstructive and visuospatial working memory tasks. Nor did any of these studies investigate the role of the local bias, typically observed in ASD, when comparing these clinical groups. The present study aimed to analyze whether NLD and ASD share any characteristics...
October 18, 2018: Neuropsychology
https://www.readbyqxmd.com/read/30335141/a-recurrent-missense-variant-in-slc9a7-causes-nonsyndromic-x-linked-intellectual-disability-with-alteration-of-golgi-acidification-and-aberrant-glycosylation
#9
Wujood Khayat, Anna Hackett, Marie Shaw, Alina Ilie, Tracy Dudding-Byth, Vera M Kalscheuer, Louise Christie, Mark A Corbett, Jane Juusola, Kathryn L Friend, Brian M Kirmse, Jozef Gecz, Michael Field, John Orlowski
We report two unrelated families with multigenerational nonsyndromic intellectual disability segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as NHE7). SLC9A7 is located on human X chromosome at Xp11.3 and has not yet been associated with a human phenotype. The gene is widely transcribed, but especially abundant in brain, skeletal muscle and various secretory tissues. Within cells, SLC9A7 resides in the Golgi apparatus, with prominent enrichment in the trans-Golgi network (TGN) and post-Golgi vesicles...
October 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30334225/large-de-novo-microdeletion-in-epilepsy-with-intellectual-and-developmental-disabilities-with-a-systems-biology-analysis
#10
Kai Gao, Yujia Zhang, Ling Zhang, Weijing Kong, Han Xie, Jingmin Wang, Ye Wu, Xiru Wu, Xiaoyan Liu, Yuehua Zhang, Feng Zhang, Albert Cheung-Hoi Yu, Yuwu Jiang
Epilepsy is one of the most common complex neurological diseases. It is frequently associated with intellectual and developmental disabilities (ID/DD). In recent years, copy number variation (CNV), especially microdeletion, was proven to be a potential key factor of genetic epilepsy. In this paper, the authors tested the hypothesis that the large de novo rare CNV is an important cause of epilepsy with ID/DD. We performed a custom array comparative genomic hybridization (aCGH) to detect the CNVs of 96 Chinese epileptic patients with ID/DD...
2018: Advances in Neurobiology
https://www.readbyqxmd.com/read/30333726/loss-of-arhgef6-causes-hair-cell-stereocilia-deficits-and-hearing-loss-in-mice
#11
Chengwen Zhu, Cheng Cheng, Yanfei Wang, Waqas Muhammad, Shuang Liu, Weijie Zhu, Buwei Shao, Zhong Zhang, Xiaoqian Yan, Qingqing He, Zhengrong Xu, Chenjie Yu, Xiaoyun Qian, Ling Lu, Shasha Zhang, Yuan Zhang, Wei Xiong, Xia Gao, Zhigang Xu, Renjie Chai
ARHGEF6 belongs to the family of guanine nucleotide exchange factors (GEFs) for Rho GTPases, and it specifically activates Rho GTPases CDC42 and RAC1. Arhgef6 is the X-linked intellectual disability gene also known as XLID46, and clinical features of patients carrying Arhgef6 mutations include intellectual disability and, in some cases, sensorineural hearing loss. Rho GTPases act as molecular switches in many cellular processes. Their activities are regulated by binding or hydrolysis of GTP, which is facilitated by GEFs and GTPase-activating proteins, respectively...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/30333078/health-of-parents-of-individuals-with-developmental-disorders-or-mental-health-problems-impacts-of-stigma
#12
Jieun Song, Marsha R Mailick, Jan S Greenberg
OBJECTIVE: Parents of individuals with developmental disorders or mental health problems often provide life-long care and support to their children, which negatively affects their health in part due to chronic stress. This study aimed to examine the experience of stigma as a source of chronic stress among parents of individuals with developmental disorders or mental health problems and the effect of stigma on parental health outcomes. METHOD: Using data from the Survey of Midlife in the United States (MIDUS 2 and 3), we constructed a sample for a longitudinal analysis including 128 parents of individuals with developmental disorders (e...
September 27, 2018: Social Science & Medicine
https://www.readbyqxmd.com/read/30328695/prevalence-of-sensory-impairments-physical-and-intellectual-disabilities-and-mental-health-in-children-and-young-people-with-self-proxy-reported-autism-observational-study-of-a-whole-country-population
#13
Ewelina Rydzewska, Laura A Hughes-McCormack, Christopher Gillberg, Angela Henderson, Cecilia MacIntyre, Julie Rintoul, Sally-Ann Cooper
This study investigated the comorbid conditions in a whole country population of children/young people aged 0-24 years with and without autism. Data were drawn from Scotland's Census 2011. We calculated the percentage with autism, their extent of comorbid conditions, odds ratio (with 95% confidence intervals) of autism predicting comorbidities, adjusted for age and gender, and odds ratio for age and gender predicting comorbidities within the cohort with autism. A total of 25,063/1,548,819 (1.6%) had autism: 19,880 (79...
October 17, 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/30328660/iqsec2-mutation-update-and-review-of-the-female-specific-phenotype-spectrum-including-intellectual-disability-and-epilepsy
#14
Cheryl Shoubridge, Robert J Harvey, Tracy Dudding-Byth
The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. Here we review the increasing number of reported families and isolated cases have been reported with a variety of different pathogenic variants. The spectrum of clinical features is expanding with early-onset seizures as a frequent comorbidity in both affected male and female patients. There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype than the heterozygous state would predict, particularly if IQSEC2 is thought to escape X-inactivation...
October 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/30328163/prevalence-and-sequelae-of-self-reported-and-other-reported-sexual-abuse-in-adults-with-intellectual-disability
#15
M D Gil-Llario, V Morell-Mengual, I Díaz-Rodríguez, R Ballester-Arnal
BACKGROUND: Sexual victimisation is an important problem that affects millions of people around the world, especially those with some kind of disability. The aim of this study was to determine the prevalence of self-reported and documented sexual abuse in people with mild or moderate intellectual disability and to analyse the sequelae that such experiences can have on their psychosocial health. METHODS: The sample consisted of 360 adults (50% men and 50% women) between 18 and 55 years of age (M = 39...
October 16, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/30327664/specificity-a-phenotypic-comparison-of-communication-relevant-domains-between-youth-with-down-syndrome-and-fragile-x-syndrome
#16
Laura Del Hoyo Soriano, Angela John Thurman, Leonard Abbeduto
Despite the shared presence of an intellectual disability (ID), there is a growing literature documenting important phenotypic differences between Down syndrome (DS) and fragile X syndrome (FXS). These conclusions, however, are based on a synthesis across studies, each of which typically includes only measures of a limited number of constructs, and with differing participant characteristics. Firmer conclusions regarding specific phenotypes require a single comprehensive multi-domain assessment of participants with the syndrome groups being well matched on chronological age (CA) and cognitive functioning...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/30327254/understanding-parental-causal-explanations-and-help-seeking-in-attention-deficit-hyperactivity-disorder-perspectives-from-a-developing-asian-nation
#17
Ruchita Shah, Akhilesh Sharma, Nidhi Chauhan, Soumya Jhanda, Sandeep Grover
INTRODUCTION: Research on parental understanding of causation and help-seeking for ADHD comes from ethnic minorities in developed nations; research from Asia is scarce. Our purpose was to explore perceptions of Indian parents regarding causation and diagnosis of problematic childhood behaviors diagnosed as ADHD or hyperkinetic disorder, and to understand the process of decision making and help seeking using a qualitative study design. METHOD: In-depth, semi-structured interviews were conducted with 52 parents (33 mothers and 19 fathers), focusing on initial emotional reactions and cognitive appraisals, decision making, parental causal explanations and perceptions regarding diagnosis and symptom labeling...
October 5, 2018: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/30325292/working-together-to-address-women-s-health-in-research-and-drug-development-summary-of-the-2017-women-s-health-congress-preconference-symposium
#18
Irwin M Feuerstein, Marjorie R Jenkins, Susan G Kornstein, Michael S Lauer, Pamela E Scott, Tonse N K Raju, Tamara Johnson, Stephanie Devaney, Milena Lolic, Marsha Henderson, Janine Austin Clayton
Historically, women have been underrepresented in clinical research, requiring physicians to extrapolate medical recommendations for women from clinical research done in cohorts consisting predominantly of male participants. While government-funded clinical research has achieved gender parity in phase-3 clinical trials across many biomedical disciplines, improvements are still needed in several facets of women's health research, such as the inclusion of women in early-phase clinical trials, the inclusion of pregnant women and women with physical and intellectual disabilities, the consideration of sex as a biological variable in preclinical research, and the analysis and reporting of sex and gender differences across the full biomedical research continuum...
October 2018: Journal of Women's Health
https://www.readbyqxmd.com/read/30325123/speech-delay-in-toddlers-are-they-only-late-talkers
#19
Pınar Zengin-Akkuş, Tuba Çelen-Yoldaş, Gökçe Kurtipek, Elif Nursel Özmert
Zengin-Akkuş P, Çelen-Yoldaş T, Kurtipek G, Özmert EN. Speech delay in toddlers: Are they only `late talkers`?. Turk J Pediatr 2018; 60: 165-172. Speech delay is prevalent in toddlers. Although some children with speech delay are able to catch up with their peers with time, the delay might be part of a broader condition such as global developmental delay, which requires specific diagnostic work-up. The current study aimed to present the demographic features, developmental profiles of the first 100 preschool-aged children who were seen at Hacettepe University İhsan Doğramacı Children`s Hospital-Developmental Pediatrics Unit with parental concern of speech delay...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30325080/subicular-hypotrophy-in-fetuses-with-down-syndrome-and-in-the-ts65dn-model-of-down-syndrome
#20
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi, Sandra Guidi
Intellectual disability in Down syndrome (DS) has been attributed to neurogenesis impairment during fetal brain development. Consistently with explicit memory alterations observed in children with DS, fetuses with DS exhibit neurogenesis impairment in the hippocampus, a key region involved in memory formation and consolidation. Recent evidence suggests that the subiculum plays a unique role in memory retrieval, a process that is also altered in DS. While much attention has been devoted to the hippocampus, there is a striking lack of information regarding the subiculum of individuals with DS and DS models...
October 16, 2018: Brain Pathology
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