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https://www.readbyqxmd.com/read/28339895/does-parental-health-mediate-the-relationship-between-parental-uninsurance-and-insured-children-s-health-outcomes-evidence-from-a-u-s-national-survey
#1
Ilhom Akobirshoev, Diana Bowser, Susan L Parish, Cindy Thomas, Sara S Bachman
Although the United States has made great strides in ensuring near universal health care access for children, the health insurance coverage gap between children and their parents remains high. This study analyzed aggregated data from the 2006-2013 National Health Interview Survey to investigate the direct relationships between parental uninsurance and children's health outcomes. Authors explored how parental health mediates the relationship between parents' health and children's health outcomes. Results suggest that insured children of uninsured parents have worse health status and are at higher risk of asthma, attention-deficit/hyperactivity disorder, developmental delays, learning disabilities, and mental disabilities compared with insured children of insured parents...
March 2, 2017: Health & Social Work
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#2
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332246/weight-management-in-adults-with-intellectual-and-developmental-disabilities-a-randomized-controlled-trial-of-two-dietary-approaches
#3
Lauren T Ptomey, Richard R Saunders, Muriel Saunders, Richard A Washburn, Matthew S Mayo, Debra K Sullivan, Cheryl A Gibson, Jeannine R Goetz, Jeff J Honas, Erik A Willis, Jessica C Danon, Ron Krebill, Joseph E Donnelly
BACKGROUND: The prevalence of obesity among individuals with intellectual and developmental disabilities (IDD) is equal to or greater than the general population. METHODS: Overweight/obese adults (BMI ≥25 kg/m(2) ) with mild-to-moderate intellectual and developmental disabilities were randomized to an enhanced stop light diet (eSLD = SLD + portion-controlled meals, n = 78) or a conventional diet (CD, n = 72) for an 18 months trial (6 months weight loss, 12 months maintenance)...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28329847/the-impact-of-the-great-recession-on-midlife-and-older-parents-of-individuals-with-a-mental-health-problem-or-a-developmental-disability
#4
Jieun Song, Marsha R Mailick, Jan S Greenberg
Background and Objectives: Parents of sons and daughters with disabilities have ongoing financial burdens and vulnerability due to the demands of caregiving responsibilities and their related direct and indirect costs. This study aims to investigate whether midlife and older parents of individuals with a mental health problem or a developmental disability were particularly vulnerable to the impact of the recession. Research Design and Methods: The data were drawn from Midlife in the United States (MIDUS), a longitudinal survey of a national probability sample in the United States, Waves II (2004-2006) and III (2013-2014; 84 parents of individuals with a mental health problem, 98 parents of individuals with a developmental disability, and 2,029 parents of individuals without any conditions as a comparison group)...
March 13, 2017: Gerontologist
https://www.readbyqxmd.com/read/28329835/machine-learning-sentiment-analysis-and-tweets-an-examination-of-alzheimer-s-disease-stigma-on-twitter
#5
Nels Oscar, Pamela A Fox, Racheal Croucher, Riana Wernick, Jessica Keune, Karen Hooker
Objectives: Social scientists need practical methods for harnessing large, publicly available datasets that inform the social context of aging. We describe our development of a semi-automated text coding method and use a content analysis of Alzheimer's disease (AD) and dementia portrayal on Twitter to demonstrate its use. The approach improves feasibility of examining large publicly available datasets. Method: Machine learning techniques modeled stigmatization expressed in 31,150 AD-related tweets collected via Twitter's search API based on 9 AD-related keywords...
March 2, 2017: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#6
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#7
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324901/pediatric-feeding-disorders-and-severe-developmental-disabilities
#8
Jane ORegan Kleinert
Children with severe developmental disabilities face numerous challenges to function and participate in activities of daily life. One of the most significant challenges to accomplishing this goal is that of oral feeding disorders. Indeed, it is estimated that among children with developmental disabilities, up to 80 to 90% present with some level of feeding disorders. In addition, it has been shown that as the level of severity of intellectual disability increases, so does the severity of the oral feeding disorders...
April 2017: Seminars in Speech and Language
https://www.readbyqxmd.com/read/28323454/interaction-behaviors-of-bilingual-parents-with-their-young-children-with-autism-spectrum-disorder
#9
Kristelle Hudry, Lisa Rumney, Nicole Pitt, Josephine Barbaro, Giacomo Vivanti
Given concerns that bilingual exposure might confuse children with disabilities-including autism spectrum disorder (ASD)-bilingual parents may restrict exposure to one language, often the community-dominant language. We investigated a potential consequence of this decision; the possibility that non-native language use might influence parental communicative behaviors during interaction with the child. We recruited 39 parent-child dyads, each with a young child with ASD (mostly boys) and parent/carer (mostly mothers)...
March 21, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28322228/a-clear-bias-in-parental-origin-of-de-novo-pathogenic-cnvs-related-to-intellectual-disability-developmental-delay-and-multiple-congenital-anomalies
#10
Ruiyu Ma, Linbei Deng, Yan Xia, Xianda Wei, Yingxi Cao, Ruolan Guo, Rui Zhang, Jing Guo, Desheng Liang, Lingqian Wu
Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic CNVs found in unrelated patients with intellectual disability (ID), developmental delay (DD) and multiple congenital anomalies (MCA)...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#11
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#12
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28299789/menstrual-management-in-developmentally-delayed-adolescent-females
#13
Irene Chuah, Alexandra McRae, Kim Matthews, Ann M Maguire, Katharine Steinbeck
BACKGROUND: Requests for assistance in menstrual management and menstrual suppression are a common, emotive and sometimes controversial aspect of adolescent disability care. AIMS: To review the uptake and outcomes of menstrual suppression among adolescent patients with developmental delay. METHODS: A retrospective review of the medical records of adolescent females with intellectual disability referred for menstrual management to the Paediatric and Adolescent Gynaecology Clinic, Children's Hospital at Westmead, Sydney, for the three-year period between January 1, 2010 and January 1, 2013...
March 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28296525/learning-experiences-and-strategies-of-parents-of-young-children-with-developmental-disabilities-implications-for-rehabilitation-professionals
#14
Karen Hurtubise, Christine Carpenter
AIM: To better understand the learning experiences of parents of children with developmental disabilities and the strategies they develop to support their caregiving role. METHODS: A qualitative secondary analysis of in-depth interviews with parents of children with developmental disability was conducted to better understand parents' learning experiences and the strategies they developed to use this learning in supporting their children. A foundational thematic analysis process was used to identify the main themes, and the interpretive process was influenced by adult education theories...
March 15, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28295210/cnvs-analysis-in-a-cohort-of-isolated-and-syndromic-dd-id-reveals-novel-genomic-disorders-position-effects-and-candidate-disease-genes
#15
Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni, Elisa Biamino, Malte Spielmann, Ugo Ala, Alessandro Calcia, Irene Bagnasco, Diana Carli, Giorgia Gai, Mara Giordano, Andrea Guala, Roberto Keller, Giorgia Mandrile, Carlo Arduino, Antonella Maffè, Valeria Giorgia Naretto, Fabio Sirchia, Lorena Sorasio, Silvana Ungari, Andrea Zonta, Giulia Zacchetti, Flavia Talarico, Patrizia Pappi, Simona Cavalieri, Elisa Giorgio, Cecilia Mancini, Marta Ferrero, Alessandro Brussino, Elisa Savin, Marina Gandione, Alessandra Pelle, Daniela Francesca Giachino, Mario De Marchi, Gabriella Restagno, Paolo Provero, Margherita Cirillo Silengo, Enrico Grosso, Joseph D Buxbaum, Barbara Pasini, Silvia De Rubeis, Alfredo Brusco, Giovanni Battista Ferrero
Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect Copy Number Variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). We performed a comprehensive array-CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic evidence, evolutionary constraint scores, and functional information in order to assess the pathogenicity of the CNVs. We identified non-benign CNVs in 29% of patients. Amongst the pathogenic variants (11%), detected with a yield consistent with the literature, we found rare genomic disorders and CNVs spanning known disease genes...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295206/molecular-clinical-and-neuropsychological-study-in-31-patients-with-kabuki-syndrome-and-kmt2d-mutations
#16
Natacha Lehman, Anne Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, Yline Capri, Annick Toutain, Sylvie Odent, Myriam Mikaty, Cyril Goizet, Emmanuelle Taupiac, Marie Line Jacquemont, Elodie Sanchez, Elise Schaefer, Vincent Gatinois, Laurence Faivre, Delphine Minot, Honorine Kayirangwa, Kim-Hanh Le Qang Sang, Nathalie Boddaert, Sophie Bayard, Didier Lacombe, Sébastien Moutton, Isabelle Touitou, Marlène Rio, Jeanne Amiel, Stanislas Lyonnet, Damien Sanlaville, Marie Christine Picot, David Geneviève
Kabuki syndrome (KS - OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with Kabuki syndrome and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI)...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28293754/impact-of-a-teacher-as-coach-model-improving-paraprofessionals-fidelity-of-implementation-of-discrete-trial-training-for-students-with-moderate-to-severe-developmental-disabilities
#17
Rose A Mason, Alana G Schnitz, Howard P Wills, Raia Rosenbloom, Debra M Kamps, Darcey Bast
Ensuring educational progress for students with moderate-to-severe developmental disabilities requires exposure to well executed evidence-based practices. This necessitates that the special education workforce, including paraprofessionals, be well-trained. Yet evidence regarding effective training mechanisms for paraprofessionals is limited. A multiple baseline design across five teachers was used to evaluate the impact of online instructional modules and a Practice-Based Coaching (PBC) model with teacher-as-coach on their paraprofessionals' fidelity of discrete trial training (DTT)...
March 14, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28291949/an-exploration-of-the-relationship-between-two-measures-of-children-s-participation
#18
Chi-Wen Chien, Sylvia Rodger, Jodie Copley, Ted Brown
PURPOSE: To investigate the relationship between the Children Participation Questionnaire and the Children's Assessment of Participation with Hands. MATERIALS AND METHODS: Two researchers classified the item contents independently using the International Classification of Functioning, Disability and Health-Child and Youth version as a guide. Parents of 51 children with intellectual and developmental disabilities completed both measures within one month. RESULTS: The linking results indicated that the two participation measures covered a broad range of life domains, which corresponded well to the conceptually matched Activities and Participation categories/chapters of the International Classification of Functioning, Disability and Health-Child and Youth version...
March 14, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28290273/from-the-ebm-pyramid-to-the-greek-temple-a-new-conceptual-approach-to-guidelines-as-implementation-tools-in-mental-health
#19
L Salvador-Carulla, S Lukersmith, W Sullivan
Guideline methods to develop recommendations dedicate most effort around organising discovery and corroboration knowledge following the evidence-based medicine (EBM) framework. Guidelines typically use a single dimension of information, and generally discard contextual evidence and formal expert knowledge and consumer's experiences in the process. In recognition of the limitations of guidelines in complex cases, complex interventions and systems research, there has been significant effort to develop new tools, guides, resources and structures to use alongside EBM methods of guideline development...
April 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28289641/motor-and-cognitive-developmental-profiles-in-children-with-down-syndrome
#20
Hyo In Kim, Seong Woo Kim, Jiyong Kim, Ha Ra Jeon, Da Wa Jung
OBJECTIVE: To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS). METHODS: Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered...
February 2017: Annals of Rehabilitation Medicine
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