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Developmental disability

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https://www.readbyqxmd.com/read/29655508/methodological-standards-in-single-case-experimental-design-raising-the-bar
#1
Jennifer B Ganz, Kevin M Ayres
Single-case experimental designs (SCEDs), or small-n experimental research, are frequently implemented to assess approaches to improving outcomes for people with disabilities, particularly those with low-incidence disabilities, such as some developmental disabilities. SCED has become increasingly accepted as a research design. As this literature base is needed to determine what interventions are evidence-based practices, the acceptance of SCED has resulted in increased critiques with regard to methodological quality...
April 12, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29652207/a-consecutive-case-series-analysis-of-a-behavioral-intervention-for-enuresis-in-children-with-developmental-disabilities
#2
Joanna Lomas Mevers, Colin Muething, Nathan A Call, Mindy Scheithauer, Shannon Hewett
Children with developmental disabilities (DD) are more likely than typically developing peers to have issues with enuresis. Past research has shown the success of behavioral treatments consisting of scheduled sits and reinforcement for continent voids. However, this research has included small sample sizes, while studies with larger numbers have lacked key information (i.e., baseline rates and follow-up data to evaluate maintenance and generalization). The current study conducted a consecutive case series analysis of 44 individuals with developmental disabilities who completed a 2-week program for enuresis...
April 13, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29652076/systematic-reanalysis-of-genomic-data-improves-quality-of-variant-interpretation
#3
S M Hiatt, M D Amaral, K M Bowling, C R Finnila, M L Thompson, D E Gray, J M J Lawlor, J Nicholas Cochran, E Martina Bebin, K B Brothers, K M East, W V Kelley, N E Lamb, S E Levy, E J Lose, M B Neu, C A Rich, S Simmons, R M Myers, G S Barsh, G M Cooper
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thus makes reanalysis a means to maximize benefits of clinical sequencing. We implemented pipelines to systematically reassess sequencing data from 494 individuals with developmental disability. Reanalysis yielded pathogenic or likely pathogenic (P/LP) variants in six individuals who initially had no P/LP variants, a 16% increase to P/LP yield...
April 13, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29650748/exploring-the-prenatal-experience-of-women-with-intellectual-and-developmental-disabilities-in-a-southeastern-ontario-family-health-team
#4
Elaine Xie, Meg Gemmill
OBJECTIVE: To identify psychosocial challenges facing pregnant women with intellectual and developmental disabilities (IDD) using retrospective, routinely collected electronic medical record data. DESIGN: A retrospective qualitative study using narratives and supporting documents found in the electronic medical record of an academic family health team (FHT). SETTING: Academic FHT in southeastern Ontario. PARTICIPANTS: A sample of 10 women with a diagnosis of IDD, rostered to physicians at the academic FHT, who delivered a child between January 2010 and June 2015 (14 pregnancies)...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650747/patient-centred-primary-care-of-adults-with-severe-and-profound-intellectual-and-developmental-disabilities-patient-caregiver-physician-relationship
#5
Katherine Stringer, Amanda L Terry, Bridget L Ryan, Andrea Pike
OBJECTIVE: To explore the process of the development of the patient-physician relationship in adult patients with severe or profound intellectual and developmental disabilities (IDD), from the perspective of the patients' caregivers. DESIGN: Constructivist grounded theory. SETTING: St John's, NL. PARTICIPANTS: Thirteen primary caregivers (5 males, 8 females) of 1 or more adults with severe or profound IDD. METHODS: Data were collected via in-depth, semistructured interviews conducted in person or by telephone...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650746/comprehensive-preventive-care-assessments-for-adults-with-intellectual-and-developmental-disabilities-part-1-how-do-we-know-if-it-is-happening
#6
Glenys Smith, Hélène Ouellette-Kuntz, Michael Green
OBJECTIVE: To determine how best to measure the provision of comprehensive preventive care assessment of adults with intellectual and developmental disabilities (IDD). DESIGN: Cross-sectional study. SETTING: Ontario. PARTICIPANTS: Adults with IDD between 40 and 64 years of age in 2013 and 2014. MAIN OUTCOME MEASURES: Health examination was defined using the Ontario Health Insurance Plan billing data fee code A003 (with diagnostic code 917 or 319) or fee code K131, and the Primary Care Quality Composite Score (PCQS), a measure combining 7 different screening maneuvers (lipid, glucose, breast cancer, cervical cancer, colorectal cancer, eye, and hemoglobin A1c screening), was identified using administrative health data...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650745/circles-of-care-for-people-with-intellectual-and-developmental-disabilities-communication-collaboration-and-coordination
#7
REVIEW
Karen McNeil, Meg Gemmill, Dara Abells, Samantha Sacks, Terry Broda, Catherine R Morris, Cynthia Forster-Gibson
OBJECTIVE: To review health information exchange (HIE) processes that affect the health of people with intellectual and developmental disabilities (IDD) and to suggest practical tips and strategies for communicating, collaborating, and coordinating in the primary care setting. SOURCES OF INFORMATION: The "Primary care of adults with intellectual and developmental disabilities. 2018 Canadian consensus guidelines" literature review and interdisciplinary input...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650744/health-checks-for-adults-with-intellectual-and-developmental-disabilities-in-a-family-practice
#8
REVIEW
Ian Casson, Terry Broda, Janet Durbin, Angela Gonzales, Laurie Green, Elizabeth Grier, Yona Lunsky, Avra Selick, Kyle Sue
OBJECTIVE: To provide tips and tools for primary care practitioners carrying out health checks for adult patients with intellectual and developmental disabilities (IDD) and for implementing a systematic program of health checks in a group or team practice. SOURCES OF INFORMATION: The "Primary Care of Adults with Intellectual and Developmental Disabilities. 2018 Canadian Consensus Guidelines" literature review and interdisciplinary input. Experience in implementing health checks in family practices was obtained through the primary care project of H-CARDD (Health Care Access Research and Developmental Disabilities)...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650743/improving-transition-to-adulthood-for-adolescents-with-intellectual-and-developmental-disabilities-proactive-developmental-and-systems-perspective
#9
REVIEW
Shara Ally, Kerry Boyd, Dara Abells, Khush Amaria, Yani Hamdani, Alvin Loh, Ullanda Niel, Samantha Sacks, Sarah Shea, William F Sullivan, Brian Hennen
OBJECTIVE: To demonstrate how family physicians can contribute to a piece of the journey of improving quality-of-life outcomes for people with intellectual and developmental disabilities (IDD) when they undergo the transition from adolescence to adulthood. SOURCES OF INFORMATION: The "Primary care of adults with intellectual and developmental disabilities. 2018 Canadian consensus guidelines" literature review and interdisciplinary input. MAIN MESSAGE: Family physicians should be proactive in anticipating and supporting the transition of people with IDD from adolescence to adulthood...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650742/supporting-adults-with-intellectual-and-developmental-disabilities-to-participate-in-health-care-decision-making
#10
REVIEW
William F Sullivan, John Heng
OBJECTIVE: To discuss what is new in the revised guideline 3 of the "Primary care of adults with intellectual and developmental disabilities [IDD]. 2018 Canadian consensus guidelines" on decision-making capacity, and how to implement the recommendations. QUALITY OF EVIDENCE: Integrative review based on a literature search, the framework of the United Nations Convention on the Rights of Persons with Disabilities, and the experience of the authors. MAIN MESSAGE: Person-centred health care of adults with IDD should include all possible contributions from the patient in decision making...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650741/help-for-behaviours-that-challenge-in-adults-with-intellectual-and-developmental-disabilities
#11
REVIEW
Laurie Green, Karen McNeil, Marika Korossy, Kerry Boyd, Elizabeth Grier, MacKenzie Ketchell, Alvin Loh, Yona Lunsky, Shirley McMillan, Amanda Sawyer, Anupam Thakur, Elspeth Bradley
OBJECTIVE: To provide primary care physicians with an understanding of the causes of behaviours that challenge (BTC) in adults with intellectual and developmental disabilities (IDD), as presented in the 2018 Canadian consensus guidelines for primary care of adults with IDD; to offer a systematic approach to the assessment and treatment of such behaviours; and to link to tools to support these assessments. SOURCES OF INFORMATION: This review elaborates upon guidelines 26 to 29 in the mental health section of the 2018 Canadian consensus guidelines...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650740/managing-complexity-in-care-of-patients-with-intellectual-and-developmental-disabilities-natural-fit-for-the-family-physician-as-an-expert-generalist
#12
REVIEW
Elizabeth Grier, Dara Abells, Ian Casson, Meg Gemmill, Jessica Ladouceur, Amanda Lepp, Ullanda Niel, Samantha Sacks, Kyle Sue
OBJECTIVE: To delineate the factors inherent in caring for patients with intellectual and developmental disabilities (IDD) that lead to complexity and to provide perspectives and techniques mapped to the phases of the clinical encounter. SOURCES OF INFORMATION: The authors of the physical health section of the 2018 Canadian consensus guidelines on the primary care of adults with IDD consisted of family physicians, all of whom practise comprehensive family medicine with additional clinical experience in care of adults with IDD...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650738/consumer-inclusion-experience-of-patients-with-intellectual-and-developmental-disabilities-informs-primary-care
#13
Kerry Boyd, Heidi Diepstra, Kareem Elbard, Yani Hamdani, Yona Lunsky
No abstract text is available yet for this article.
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650737/approaches-to-primary-care-of-adults-with-intellectual-and-developmental-disabilities-importance-of-frameworks-for-guidelines
#14
William F Sullivan, John Heng, Luis Salvador-Carulla, Sue Lukersmith, Ian Casson
No abstract text is available yet for this article.
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29650602/primary-care-of-adults-with-intellectual-and-developmental-disabilities-2018-canadian-consensus-guidelines
#15
William F Sullivan, Heidi Diepstra, John Heng, Shara Ally, Elspeth Bradley, Ian Casson, Brian Hennen, Maureen Kelly, Marika Korossy, Karen McNeil, Dara Abells, Khush Amaria, Kerry Boyd, Meg Gemmill, Elizabeth Grier, Natalie Kennie-Kaulbach, Mackenzie Ketchell, Jessica Ladouceur, Amanda Lepp, Yona Lunsky, Shirley McMillan, Ullanda Niel, Samantha Sacks, Sarah Shea, Katherine Stringer, Kyle Sue, Sandra Witherbee
OBJECTIVE: To update the 2011 Canadian guidelines for primary care of adults with intellectual and developmental disabilities (IDD). METHODS: Family physicians and other health professionals experienced in the care of people with IDD reviewed and synthesized recent empirical, ecosystem, expert, and experiential knowledge. A system was developed to grade the strength of recommendations. RECOMMENDATIONS: Adults with IDD are a heterogeneous group of patients and have health conditions and factors affecting their health that can vary in kind, manifestation, severity, or complexity from those of others in the community...
April 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29649939/participation-patterns-of-preschool-children-with-intellectual-developmental-disabilities
#16
Yafit Gilboa, Reut Fuchs
We aim to examine the pattern of participation of children with intellectual developmental disabilities (IDD) or global developmental delay (GDD) in comparison with typically developing preschoolers. In addition, to identify environmental and personal factors associated with their participation, 20 children with mild to moderate GDD or IDD, and 24 age- and gender-matched controls, aged 3 to 6 years, were assessed using the Assessment of Preschool Children's Participation and the Environmental Restriction Questionnaire...
April 1, 2018: OTJR: Occupation, Participation and Health
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#17
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29644084/primary-microcephaly-caused-by-novel-compound-heterozygous-mutations-in-aspm
#18
Nobuhiko Okamoto, Tomohiro Kohmoto, Takuya Naruto, Kiyoshi Masuda, Issei Imoto
Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who presented with a severe form of primary microcephaly. Targeted panel sequencing revealed compound heterozygous truncating mutations of the abnormal spindle-like microcephaly-associated ( ASPM ) gene, which confirmed the MCPH5 diagnosis...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29643529/-retrospective-study-of-dental-treatment-under-general-anesthesia-of-62-disabled-children-and-adolescents
#19
N Wang, Y M Zhao
OBJECTIVE: To retrospectively figure out the oral health status, treatment and follow-ups after dental treatment under general anesthesia (DGA) of disabled children or adolescents. METHODS: Clinical data of disabled children or adolescents and normal children as control received DGA in the Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology from August 2008 to September 2015 were recorded, including: gender, birth date, treatment date, disability type, oral health status before treatment, treatment content and follow-ups (in 1 year)...
April 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29643508/aspm-knockout-ferret-reveals-an-evolutionary-mechanism-governing-cerebral-cortical-size
#20
Matthew B Johnson, Xingshen Sun, Andrew Kodani, Rebeca Borges-Monroy, Kelly M Girskis, Steven C Ryu, Peter P Wang, Komal Patel, Dilenny M Gonzalez, Yu Mi Woo, Ziying Yan, Bo Liang, Richard S Smith, Manavi Chatterjee, Daniel Coman, Xenophon Papademetris, Lawrence H Staib, Fahmeed Hyder, Joseph B Mandeville, P Ellen Grant, Kiho Im, Hojoong Kwak, John F Engelhardt, Christopher A Walsh, Byoung-Il Bae
The human cerebral cortex is distinguished by its large size and abundant gyrification, or folding. However, the evolutionary mechanisms that drive cortical size and structure are unknown. Although genes that are essential for cortical developmental expansion have been identified from the genetics of human primary microcephaly (a disorder associated with reduced brain size and intellectual disability) 1 , studies of these genes in mice, which have a smooth cortex that is one thousand times smaller than the cortex of humans, have provided limited insight...
April 11, 2018: Nature
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