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Intellectual disabilities

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https://www.readbyqxmd.com/read/29161137/pragmatic-competence-of-children-with-autism-spectrum-disorder-impact-of-theory-of-mind-verbal-working-memory-adhd-symptoms-and-structural-language
#1
Inmaculada Baixauli-Fortea, Ana Miranda Casas, Carmen Berenguer-Forner, Carla Colomer-Diago, Belén Roselló-Miranda
The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children's Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence)...
November 21, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#2
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#3
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#4
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#5
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159891/the-experience-of-sexuality-in-adults-with-intellectual-disability
#6
M D Gil-Llario, V Morell-Mengual, R Ballester-Arnal, I Díaz-Rodríguez
BACKGROUND: People with intellectual disability have the same sexual needs as those without any disability, yet their sexuality is often restricted by reluctant attitudes and/or fears based on irrational beliefs. The aim of this study is to describe and analyse different areas of sexuality in adults with mild or moderate intellectual disability. METHOD: The sample consisted of 180 men and 180 women attending occupational centres. All the participants were administered a questionnaire about sexuality adapted to their characteristics...
November 20, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#7
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159888/salivary-%C3%AE-amylase-as-a-marker-of-stress-reduction-in-individuals-with-intellectual-disability-and-autism-in-response-to-occupational-and-music-therapy
#8
J Poquérusse, A Azhari, P Setoh, S Cainelli, C Ripoli, P Venuti, G Esposito
BACKGROUND: Although the benefits of a range of disability-centric therapies have been well studied, little remains known about how they work, let alone how to monitor these benefits in a precise and reliable way. METHODS: Here, in two independent studies, we examine how sessions consisting of occupational or music therapy, both widely recognised for their effectiveness, modulate levels of salivary α-amylase (sAA), a now time- and cost-efficient marker of stress, in individuals with intellectual disability and autism spectrum disorder...
November 21, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29159559/cerberus-an-access-control-scheme-for-enforcing-least-privilege-in-patient-cohort-study-platforms-a-comprehensive-access-control-scheme-applied-to-the-genida-project-study-of-genetic-forms-of-intellectual-disabilities-and-autism-spectrum-disorders
#9
Pierre Parrend, Timothée Mazzucotelli, Florent Colin, Pierre Collet, Jean-Louis Mandel
Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations...
November 16, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29157498/the-medical-transition-from-pediatric-to-adult-oriented-care-considerations-for-child-and-adolescent-psychiatrists
#10
REVIEW
Laura C Hart, Gary Maslow
More adolescents and young adults are surviving previously fatal childhood illness and need support to transition from pediatric care to adult-oriented care. There are many barriers, but guidelines and tools assist providers with emphasis on gradually addressing transition with patients and families. Child and adolescent psychiatrists should be particularly attuned to the needs of adolescents with previously identified mental illness who are at high risk of falling out of regular care during transition. Providers are also uniquely suited to address the needs of adolescents and young adults with intellectual and developmental disabilities...
January 2018: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/29156220/the-epilepsy-phenotype-in-adult-patients-with-intellectual-disability-and-pathogenic-copy-number-variants
#11
Giuseppe d'Orsi, Tommaso Martino, Orazio Palumbo, Maria Grazia Pascarella, Pietro Palumbo, Maria Teresa Di Claudio, Carlo Avolio, Massimo Carella
PURPOSE: To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) METHODS: we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and microduplications. An ordinal logistic regression model was fitted with 34 demographic, clinical and EEG-related variables in order to identify the epilepsy phenotype of patients with pathogenic CNVs...
November 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29154489/characteristics-of-prisoners-with-intellectual-disabilities
#12
E Chaplin, J McCarthy, L Underwood, A Forrester, H Hayward, J Sabet, R Mills, S Young, P Asherson, D Murphy
BACKGROUND: Previous studies have found high rates of intellectual disabilities (ID) in prison. However, little is understood about prisoners with ID. This study aimed to identify prisoners with ID and compare their characteristics with prisoners without neurodevelopmental disorders with regard to demographic profile, mental health, suicide risk and offences. METHOD: This was a descriptive, cross-sectional study carried out using face-to-face interviews with 240 participants in a London Category C prison...
December 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29154488/can-interpersonal-contact-help-improve-attitudes-toward-soldiers-with-intellectual-disability-an-israeli-study
#13
S Werner
BACKGROUND: It has been argued that interpersonal contact is the best intervention for reducing negative attitudes and discrimination toward individuals with intellectual disabilities (ID). In Israel, the Equal in Uniform project makes it possible for individuals with ID to serve alongside soldiers without ID in ordinary military units in the Israeli Defense Forces. The project provided the opportunity to examine the effect of contact on the attitudes of soldiers without ID. METHODS: Data analyses are based on data collected from 220 soldiers without ID via a self-administered questionnaire based on the Multidimensional Attitudes Scale...
December 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29153874/psychological-treatments-for-depression-in-adults-with-mild-to-moderate-intellectual-disabilities-are-we-there-yet
#14
Angela Hassiotis, Marc Serfaty, Rory Sheehan
No abstract text is available yet for this article.
November 13, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/29153873/comparison-of-behavioural-activation-with-guided-self-help-for-treatment-of-depression-in-adults-with-intellectual-disabilities-a-randomised-controlled-trial
#15
Andrew Jahoda, Richard Hastings, Chris Hatton, Sally-Ann Cooper, Dave Dagnan, Ruiqi Zhang, Alex McConnachie, Nicola McMeekin, Kim Appleton, Rob Jones, Katie Scott, Lauren Fulton, Rosie Knight, Dawn Knowles, Chris Williams, Andrew Briggs, Ken MacMahon, Helen Lynn, Ian Smith, Gail Thomas, Craig Melville
BACKGROUND: Psychological therapies are first-line interventions for depression, but existing provision is not accessible for many adults with intellectual disabilities. We investigated the clinical and cost-effectiveness of a behavioural activation intervention (BeatIt) for people with intellectual disabilities and depression. BeatIt was compared with a guided self-help intervention (StepUp). METHODS: We did a multicentre, single-blind, randomised, controlled trial with follow-up at 4 months and 12 months after randomisation...
November 13, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/29153553/effectiveness-of-an-early-switch-from-intravenous-to-oral-antimicrobial-therapy-for-lower-respiratory-tract-infection-in-patients-with-severe-motor-intellectual-disabilities
#16
Masaru Kawamura, Takayuki Hoshina, Masato Ogawa, Takato Nakamoto, Koichi Kusuhara
An early switch from intravenous to oral antimicrobial therapy is useful for reducing the duration of the hospitalization in adult patients with community acquired-pneumonia, whereas the efficacy of switch therapy for pediatric patients with community acquired (CA)-lower respiratory tract infection (LRTI) is uncertain. The aim of this study is to investigate the efficacy of switch therapy for LRTI in patients with severe motor intellectual disabilities (SMID). This retrospective study was performed on 92 patients with SMID who were admitted to the Department of Pediatrics at the Hospital of University of Occupational and Environmental Health, Japan from April 1, 2010 to March 31, 2017 for the suspicion of bacterial LRTI and were initially treated with an intravenous antimicrobial agent...
November 16, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#17
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29153009/mothers-perspectives-on-the-lived-experience-of-children-with-intellectual-disability-and-challenging-behaviour
#18
Joann Kiernan, Duncan Mitchell, Jois Stansfield, Carol Taylor
Children with intellectual disability and behavioural needs (challenging behaviour) are vulnerable to exclusion from services and communities. The situation is exacerbated by difficulties in accessing appropriate support and services to effectively meet the needs of children and carers. Family perspectives on the 'lived experience' of children can provide insight into how behavioural needs can affect their ability to access everyday experiences. Semi-structured interviews were conducted with mothers of children with intellectual disabilities and challenging behaviours...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29152833/training-therapists-to-work-with-people-with-intellectual-disability-in-improving-access-to-psychological-therapies-iapt-services
#19
Dave Dagnan, John Masson, Richard Thwaites, Amy James, Chris Hatton
BACKGROUND: Current policy in the England suggests that people with intellectual disabilities should, where possible, access mainstream mental health services; this should include access to mainstream therapy services. It is likely that mainstream therapists will need training and support to work with people with intellectual disabilities. METHOD: Sixty-eight therapists working in an English Improving Access to Psychological Therapies (IAPT) service received one- or 2-day training on working with people with intellectual disabilities...
November 20, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#20
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
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