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https://www.readbyqxmd.com/read/29681966/a-review-of-global-literature-on-using-administrative-data-to-estimate-prevalence-of-intellectual-and-developmental-disabilities
#1
Daniel J Friedman, R Gibson Parrish, Michael H Fox
As understanding of health deficits among people with intellectual and developmental disabilities (IDD) increases, concerns grow about how to develop comprehensive, sustainable surveillance systems to reliably monitor the health of this population over time. This study reviews literature from 12 countries in which retrospective administrative data have been used to estimate population-based prevalence of IDD, identifies promising practices in that literature, and discusses the feasibility of applying those promising practices to other countries...
March 2018: Journal of Policy and Practice in Intellectual Disabilities
https://www.readbyqxmd.com/read/29681796/surface-expression-function-and-pharmacology-of-disease-associated-mutations-in-the-membrane-domain-of-the-human-glun2b-subunit
#2
Vojtech Vyklicky, Barbora Krausova, Jiri Cerny, Marek Ladislav, Tereza Smejkalova, Bohdan Kysilov, Miloslav Korinek, Sarka Danacikova, Martin Horak, Hana Chodounska, Eva Kudova, Ladislav Vyklicky
N-methyl-D-aspartate receptors (NMDARs), glutamate-gated ion channels, mediate signaling at the majority of excitatory synapses in the nervous system. Recent sequencing data for neurological and psychiatric patients have indicated numerous mutations in genes encoding for NMDAR subunits. Here, we present surface expression, functional, and pharmacological analysis of 11 de novo missense mutations of the human hGluN2B subunit (P553L; V558I; W607C; N615I; V618G; S628F; E657G; G820E; G820A; M824R; L825V) located in the pre-M1, M1, M2, M3, and M4 membrane regions...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29681085/two-novel-cases-expanding-the-phenotype-of-setd2-related-overgrowth-syndrome
#3
Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, Sarina G Kant, Claudia Ruivenkamp, Arie van Haeringen, J Anneke Kievit, Martine J van Belzen
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5-year-old boy and a 23-year-old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2-related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#4
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
April 13, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29675588/parenting-a-child-with-phenylketonuria-an-investigation-into-the-factors-that-contribute-to-parental-distress
#5
Olivia Ambler, Emma Medford, Dougal J Hare
Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress...
April 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29675084/two-sisters-with-angelman-syndrome-a-case-series-report
#6
Çelebi Kocaoğlu
Angelman syndrome (AS) is known as an intellectual disability related to speech impairment, ataxia and behavioral uniqueness, including a combination of frequent laughter and smiling, apparent happy demeanor, excitable personality and hypermotor behavior. In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29672990/screen-time-exposure-and-sleep-among-children-with-developmental-disabilities
#7
Ramkumar Aishworiya, Jennifer Sh Kiing, Yiong Huak Chan, Serena Sw Tung, Evelyn Law
AIM: Children with developmental disabilities are at risk of excessive screen time and are more vulnerable to sleep problems. The aim of this study was to determine the extent of screen time use in children with developmental disabilities and its relationship with sleep duration. METHODS: Consecutive children aged 6-15 years diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fourth or Fifth Edition (DSM-IV or DSM-5) developmental disabilities were recruited for this study from December 2014 to April 2015...
April 19, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29672823/developmental-disorders-with-intellectual-disability-driven-by-chromatin-dysregulation-clinical-overlaps-and-molecular-mechanisms
#8
REVIEW
L Larizza, P Finelli
Advances in genomic analyses based on next generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29672338/effects-of-a-care-coordination-intervention-with-children-with-neurodevelopmental-disabilities-and-their-families
#9
Jeanne W McAllister, Rebecca McNally Keehn, Rylin Rodgers, Philani Brian Mpofu, Patrick O Monahan, Thomas M Lock
: Care coordination is integral to improving the health of children and families. Using a Shared Plan of Care (SPoC) as a care coordination activity is recommended, but related research on outcomes in pediatric populations with complex medical conditions is scarce. OBJECTIVE: This study explores family outcomes associated with implementation of a care coordination/SPoC intervention with a population of children with neurodevelopmental disabilities and their families. METHODS: Children aged 2 to 10 years with a neurodevelopmental disability (autism spectrum disorder: 60...
April 17, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29672192/palliative-care-experiences-and-needs-of-direct-care-workers
#10
Jinsook Kim, Jennifer A Gray
BACKGROUND: As people with intellectual and developmental disabilities (PWIDD) are living longer and experience chronic health conditions, there is greater likelihood that direct care workers (DCWs) will need to provide palliative care services. OBJECTIVE: The purpose of this study was to explore DCWs' experience with palliative care and challenges they faced. DESIGN: This study was an exploratory, descriptive study using qualitative methods...
April 19, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29671639/lifelong-parenting-of-adults-with-developmental-disabilities-growth-trends-over-20-years-in-midlife-and-later-life
#11
Eun Ha Namkung, Jan S Greenberg, Marsha R Mailick, Frank J Floyd
This research examined how parenting adults with developmental disabilities affects parental well-being beyond midlife and into old age. Parents of adults with developmental disabilities ( n = 249) and parents of adults without disabilities ( n = 9,016), studied in their early 50s and mid-60s, were longitudinally tracked into their early 70s. Compared to parents of adults without disabilities, parents of adults with disabilities showed a pattern of normative functioning in their 50s, followed by poorer well-being in their mid-60s, and further declines in health and well-being into the early 70s...
May 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29671636/behavioral-interventions-for-inappropriate-sexual-behavior-in-individuals-with-developmental-disabilities-and-acquired-brain-injury-a-review
#12
Casey J Clay, Sarah E Bloom, Joseph M Lambert
Inappropriate sexual behavior (ISB) is a common, but understudied, issue for individuals diagnosed with developmental disabilities (DD), intellectual disability (ID), and/or acquired brain injuries (ABI). We conducted a systematic review to identify, analyze, and synthesize published behavior-analytic approaches to intervention for ISB in DD, ID, or ABI populations. Twenty-three studies employing single-subject research methodology were identified and evaluated using quality indicators described by Horner et al...
May 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29671621/a-research-framework-to-isolate-visuospatial-from-childhood-motor-coordination-phenotypes
#13
Michele Poletti
Clinicians acknowledge the presence of developmental cognitive phenotypes mainly characterized by a specific visuospatial impairment in presence of intact verbal functioning (usually referred as Nonverbal Learning Disability: NLD) since many decades, without providing sufficient empirical evidence supporting their nosological validity and inclusion in current diagnostic manuals. This contribution suggests that the goal of including NLD in future diagnostic manuals could be achieved only be the demonstration of the validity of this hypothesized clinical category...
April 19, 2018: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29671046/digeorge-syndrome-relevance-of-psychiatric-symptoms-in-undiagnosed-adult-patients
#14
Christoph Kraus, Thomas Vanicek, Ana Weidenauer, Tav Khanaqa, Mara Stamenkovic, Rupert Lanzenberger, Matthäus Willeit, Siegfried Kasper
DiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51...
April 18, 2018: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/29669087/understanding-the-etiology-of-chronic-pain-from-a-psychological-perspective
#15
Steven J Linton, Ida K Flink, Johan W S Vlaeyen
The etiology of chronic pain-related disability is not fully understood, particularly from a clinical perspective. Investigations to date have identified risk factors and elucidated some important processes driving the development of persistent pain problems. Yet this knowledge and its application are not always accessible to practicing physical therapists or other clinicians. This article aims to summarize the main psychological processes involved in the development of chronic pain disability and to derive some guidelines for treatment and future research...
May 1, 2018: Physical Therapy
https://www.readbyqxmd.com/read/29665530/the-burden-of-disease-attributable-to-ambient-pm2-5-bound-pahs-exposure-in-nagpur-india
#16
Tunde O Etchie, Saravanadevi Sivanesan, Ayotunde T Etchie, Gregory O Adewuyi, Kannan Krishnamurthi, K V George, Padma S Rao
Exposure to PM2.5 -bound polycyclic aromatic hydrocarbons (PAHs) can elicit several types of cancer and non-cancer effects. Previous studies reported substantial burdens of PAH-induced lung cancer, but the burdens of other cancer types and non-cancer effects remain unknown. Thus, we estimate the cancer and non-cancer burden of disease, in disability-adjusted life years (DALYs), attributable to ambient PM2.5 -bound PAHs exposure in Nagpur district, India, using risk-based approach. We measured thirteen PAHs in airborne PM2...
April 11, 2018: Chemosphere
https://www.readbyqxmd.com/read/29664051/predictive-value-of-cranial-ultrasound-for-neurodevelopmental-outcomes-of-very-preterm-infants-with-brain-injury
#17
Xue-Hua Zhang, Shi-Jun Qiu, Wen-Juan Chen, Xi-Rong Gao, Ya Li, Jing Cao, Jing-Jing Zhang
Background: Compared with full-term infants, very preterm infants are more vulnerable to injury and long-term disability and are at high risk of death. The predictive value of ultrasound and imaging on the neurodevelopment is one of the hot topics. This study aimed to investigate the relationship between cranial ultrasound (cUS) variables and neurodevelopmental outcomes of very preterm infants. Methods: Totally 129 very preterm infants (gestational age ≤28 weeks) in neonatal intensive care unit of Hunan Children's Hospital between January 2012 and November 2014 were included in this retrospective study...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29663120/similarities-and-differences-between-infantile-and-early-childhood-onset-vanishing-white-matter-disease
#18
Ling Zhou, Haihua Zhang, Na Chen, Zhongbin Zhang, Ming Liu, Lifang Dai, Jingmin Wang, Yuwu Jiang, Ye Wu
Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients...
April 16, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29661557/a-new-therapy-prevents-intellectual-disability-in-mouse-with-phenylketonuria
#19
Tiziana Pascucci, Luigia Rossi, Marco Colamartino, Claudia Gabucci, Claudia Carducci, Alessandro Valzania, Valeria Sasso, Noemi Bigini, Francesca Pierigè, Maria Teresa Viscomi, Rossella Ventura, Simona Cabib, Mauro Magnani, Stefano Puglisi-Allegra, Vincenzo Leuzzi
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake. Enzyme substitution therapy with recombinant Anabaena variabilis Phe Ammonia Lyase (rAvPAL) proved to be effective in reducing blood Phe levels in preclinical and clinical studies of adults with PKU. Aims of present study were: a) to gather proofs of clinical efficacy of rAvPAL treatment in preventing neurological impairment in an early treated murine model of PKU; b) to test the advantages of an alternative delivering system for rAvPAL such as autologous erythrocytes...
April 7, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29655508/methodological-standards-in-single-case-experimental-design-raising-the-bar
#20
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
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