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Intellectual And Disability

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https://www.readbyqxmd.com/read/30108015/clinical-findings-and-prognosis-of-danon-disease-an-analysis-of-the-spanish-multicenter-danon-registry
#1
Ángela López-Sainz, Joel Salazar-Mendiguchía, Ana García-Álvarez, Oscar Campuzano Larrea, Miguel Ángel López-Garrido, Luis García-Guereta, María Eugenia Fuentes Cañamero, Vicente Climent Payá, María Luisa Peña-Peña, Esther Zorio-Grima, Paloma Jordá-Burgos, Carles Díez-López, Ramón Brugada, José Manuel García-Pinilla, Pablo García-Pavía
INTRODUCTION AND OBJECTIVES: Danon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myopathy, childhood presentation, and worse prognosis in men. There are scarce data on the clinical characteristics and prognosis of DD. METHODS: We analyzed the clinical records of patients with DD from 10 Spanish hospitals...
August 11, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/30107592/dissecting-kmt2d-missense-mutations-in-kabuki-syndrome-patients
#2
Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, Jiyuan Zhang, Barbara Mandriani, Natascia Malerba, Gabriella M Squeo, Alessandro Romano, Barbara Piccinni, Tiziano Verri, Lucia Micale, Laura Pasqualucci, Giuseppe Merla
Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransferase KMT2D and the demethylase KDM6A revealed a causative role for histone modifiers in this disease. However, the role of missense mutations has remained unexplored. Here, we expanded the mutation spectrum of KMT2D and KDM6A in KS by identifying 37 new KMT2D sequence variants...
June 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30107516/fragile-x-mental-retardation-protein-modulates-the-stability-of-its-m6a-marked-messenger-rna-targets
#3
Feiran Zhang, Yunhee Kang, Mengli Wang, Yujing Li, Tianlei Xu, Wei Yang, Hongjun Song, Hao Wu, Qiang Shu, Peng Jin
N6-methyladenosine (m6A) is the most prevalent internal modification of mammalian messenger RNAs (mRNAs) and long non-coding RNAs. The biological functions of this reversible RNA modification can be interpreted by cytoplasmic and nuclear "m6A reader" proteins to fine-tune gene expression, such as mRNA degradation and translation initiation. Here we profiled transcriptome-wide m6A sites in adult mouse cerebral cortex, underscoring that m6A is a widespread epitranscriptomic modification in brain. Interestingly, the mRNA targets of fragile X mental retardation protein (FMRP), a selective RNA-binding protein, are enriched for m6A marks...
August 9, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30107084/the-autism-spectrum-phenotype-in-adnp-syndrome
#4
Anne B Arnett, Candace L Rhoads, Kendra Hoekzema, Tychele N Turner, Jennifer Gerdts, Arianne S Wallace, Sandra Bedrosian-Sermone, Evan E Eichler, Raphael A Bernier
Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause...
August 14, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/30106381/activity-dependent-neuroprotective-protein-deficiency-models-synaptic-and-developmental-phenotypes-of-autism-like-syndrome
#5
Gal Hacohen-Kleiman, Shlomo Sragovich, Gidon Karmon, Andy Y L Gao, Iris Grigg, Metsada Pasmanik-Chor, Albert Le, Vlasta Korenková, R Anne McKinney, Illana Gozes
Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/-) causes cognitive impairments. We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children. Indeed, recent phenotypic characterization of children harboring ADNP mutations (ADNP syndrome children) revealed global developmental delays and intellectual disabilities, including speech and motor dysfunctions. Mechanistically, ADNP includes a SIP motif embedded in the ADNP-derived snippet, drug candidate NAP (NAPVSIPQ also known as CP201), which binds to microtubule end binding protein 3, essential for dendritic spine formation...
August 14, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/30105790/service-satisfaction-and-helpfulness-ratings-mental-health-literacy-and-help-seeking-barriers-of-carers-of-individuals-with-dual-disabilities
#6
Joyce Man, Maria Kangas
BACKGROUND: Carer mental health literacy and help seeking are areas that are not well researched in the intellectual disability field. This study aimed to explore the above including service utilization experiences of Australian parents with an offspring with an intellectual disability and a comorbid psychiatric disorder. METHOD: Forty-one parents took part in an online survey assessing satisfaction and helpfulness ratings of received services. Twenty-six parents also completed items to assess mental health literacy and attitudinal barriers to help seeking...
August 13, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/30105118/paroxysmal-movement-disorder-and-epilepsy-caused-by-a-de-novo-truncating-mutation-in-kat6a
#7
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, Henry Houlden
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30104728/sex-specific-impact-of-prenatal-androgens-on-social-brain-default-mode-subsystems
#8
Michael V Lombardo, Bonnie Auyeung, Tiziano Pramparo, Angélique Quartier, Jérémie Courraud, Rosemary J Holt, Jack Waldman, Amber N V Ruigrok, Natasha Mooney, Richard A I Bethlehem, Meng-Chuan Lai, Prantik Kundu, Edward T Bullmore, Jean-Louis Mandel, Amélie Piton, Simon Baron-Cohen
Early-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females. Androgens may play a role in this male-bias by sex-differentially impacting early prenatal brain development, particularly neural circuits that later develop specialized roles in social cognition. Here, we find that increasing prenatal testosterone in humans is associated with later reduction of functional connectivity between social brain default mode (DMN) subsystems in adolescent males, but has no effect in females...
August 13, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30104188/rapid-repeat-pregnancy-among-women-with-intellectual-and-developmental-disabilities-a-population-based-cohort-study
#9
Hilary K Brown, Joel G Ray, Ning Liu, Yona Lunsky, Simone N Vigod
BACKGROUND: Rapid repeat pregnancy within 12 months of a live birth is associated with adverse perinatal outcomes. We evaluated the risk for rapid repeat pregnancy among women with intellectual and developmental disabilities, with whom sharing of information about pregnancy planning and contraception may be inadequate. METHODS: We accessed population-based health administrative data for all women with an index live birth in Ontario, Canada, for the period 2002-2013...
August 13, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/30103804/loss-of-setdb1-decompacts-the-inactive-x-chromosome-in-part-through-reactivation-of-an-enhancer-in-the-il1rapl1-gene
#10
Zhuo Sun, Brian P Chadwick
BACKGROUND: The product of dosage compensation in female mammals is the inactive X chromosome (Xi). Xi facultative heterochromatin is organized into two different types, one of which is defined by histone H3 trimethylated at lysine 9 (H3K9me3). The rationale for this study was to assess SET domain bifurcated 1 (SETDB1) as a candidate for maintaining this repressive modification at the human Xi. RESULTS: Here, we show that loss of SETDB1 does not result in large-scale H3K9me3 changes at the Xi, but unexpectedly we observed striking decompaction of the Xi territory...
August 13, 2018: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/30101664/-i-really-want-people-to-use-our-work-to-be-safe-%C3%A2-using-participatory-research-to-develop-a-safety-intervention-for-adults-with-intellectual-disability
#11
Rosemary B Hughes, Susan Robinson-Whelen, Rebecca Goe, Michelle Schwartz, Lisa Cesal, Kimberly B Garner, Katie Arnold, Tina Hunt, Katherine E McDonald
People with intellectual disability experience disproportionately high rates of interpersonal violence (IPV) due, in part, to disability-related risks that often can be minimized through targeted intervention. In this article, we describe using an academic and community participatory research approach to develop and test the feasibility of an accessible IPV prevention program for people with intellectual disability. The Safety Class, which is an interactive, structured, eight-session, weekly face-to-face group program, was found feasible for implementation in an efficacy study...
August 12, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/30101573/comparing-differences-in-support-needs-as-perceived-by-parents-of-adult-offspring-with-down-syndrome-autism-spectrum-disorder-and-cerebral-palsy
#12
Chung Eun Lee, Meghan M Burke, Catherine K Arnold, Aleksa Owen
BACKGROUND: Parents often face many barriers when taking care of their offspring with disabilities. In childhood, support needs vary with families of children with Down syndrome often reporting less caregiving challenges. However, it is unclear whether support needs vary in adulthood. This study compared parents of adults with Down syndrome (DS), autism spectrum disorder (ASD) and cerebral palsy (CP) regarding support needs of their offspring with intellectual and developmental disabilities (IDD) and their families...
August 12, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/30100694/assessing-autism-spectrum-disorder-in-people-with-sensory-impairments-combined-with-intellectual-disabilities
#13
Gitta de Vaan, Mathijs P J Vervloed, Nienke C Peters-Scheffer, Tiejo van Gent, Harry Knoors, Ludo Verhoeven
People with sensory impairments combined with intellectual disabilities show behaviours that are similar to Autism Spectrum Disorder (ASD). The instrument Observation of Autism in people with Sensory and Intellectual Disabilities (OASID) was developed to diagnose ASD in this target group. The current study focuses on the psychometric properties of OASID. Sixty individuals with intellectual disabilities in combination with visual impairments and/or deafblindness participated in this study. The OASID assessment was administered and rated by three independent observers...
2018: Journal of Developmental and Physical Disabilities
https://www.readbyqxmd.com/read/30098239/-clinical-and-genetic-features-of-five-patients-with-allan-herndon-dudley-syndrome
#14
Jiaping Wang, Qingping Zhang, Xinhua Bao, Yan Chen, Shujie Yu
OBJECTIVE: To delineate the clinical and genetic characteristics of patients with Allan-Herndon-Dudley syndrome (AHDS). METHODS: Genetic testing was carried out by next generation sequencing on 117 patients featuring intellectual disability and developmental delay. Clinical information including clinical manifestation, brain magnetic resonance imaging(MRI), thyroid hormone levels, and electrocardiogram was collected for those with SLC16A2 mutations. RESULTS: Five male patients with SLC16A2 gene mutations were identified, including 2 affected brothers and 3 sporadic cases...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30097719/genome-wide-investigation-of-an-id-cohort-reveals-de-novo-3-utr-variants-affecting-gene-expression
#15
Paolo Devanna, Maartje van de Vorst, Rolph Pfundt, Christian Gilissen, Sonja C Vernes
Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression...
August 10, 2018: Human Genetics
https://www.readbyqxmd.com/read/30095771/provision-of-moderately-and-highly-effective-reversible-contraception-to-insured-women-with-intellectual-and-developmental-disabilities
#16
Justine Wu, Jianying Zhang, Monika Mitra, Susan L Parish, Geeth Kavya Minama Reddy
OBJECTIVE: To estimate provision of moderately and highly effective reversible contraceptives to women with intellectual and developmental disabilities. METHODS: We used data from the Massachusetts All-Payer Claims Database to identify women aged 15-44 years with and without intellectual and developmental disabilities who were continuously enrolled in a private commercial insurance plan, Medicaid, or Medicare in 2012. We calculated the percentage of women aged 15-44 years who were not medically or surgically sterile and were provided 1) highly effective, long-acting reversible contraception (LARC, the intrauterine device or subdermal implant); or 2) prescriptions for moderately effective methods (pill, patch, ring, shot, or diaphragm)...
August 6, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/30095755/contraception-for-women-with-intellectual-and-developmental-disabilities-reproductive-justice
#17
Paula J Adams Hillard
No abstract text is available yet for this article.
August 6, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/30092901/case-report-of-pediatric-channelopathies-with-unc80-and-kcnj11-mutations-having-abnormal-respiratory-control-treated-with-positive-airway-pressure-therapy
#18
Hanna Hong, Rory Kamerman-Kretzmer, Roberta Kato, Tena Rosser, Michele VanHirtum-Das, Sally L Davidson Ward
There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h)...
August 6, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/30091983/diagnostic-value-of-partial-exome-sequencing-in-developmental-disorders
#19
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less sequencing capacities. Within this context 106 patients with different intellectual disability forms were analyzed for mutations in 4...
2018: PloS One
https://www.readbyqxmd.com/read/30090847/caregiving-intellectual-disability-and-dementia-report-of-the-summit-workgroup-on-caregiving-and-intellectual-and-developmental-disabilities
#20
REVIEW
Tamar Heller, Haleigh M Scott, Matthew P Janicki
Introduction: A specially commissioned working group produced a report on caregiving, intellectual and developmental disabilities (IDDs), and dementia for the National Institutes of Health-located National Research Summit on Care, Services, and Supports for Persons with Dementia and Their Caregivers. Methods: Experts in caregiving, dementia, and IDDs examined the current state of research, policy, and practice related to caregiving and supports; identified the similarities and dissimilarities between IDD-related care and services and the general population affected by dementia; and considered how these findings might contribute to the conversation on developing a dementia care research and services development agenda...
2018: Alzheimer's & Dementia: Translational Research & Clinical Interventions
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