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https://www.readbyqxmd.com/read/28822791/acute-unilateral-hip-pain-in-fibrodysplasia-ossificans-progressiva-fop
#1
Frederick S Kaplan, Mona Al Mukaddam, Robert J Pignolo
BACKGROUND: Flare-ups of the hips are among the most feared and disabling complications of fibrodysplasia ossificans progressiva (FOP) and are poorly understood. In order to better understand the nature of hip flare-ups in FOP, we evaluated 25 consecutive individuals with classic FOP (14 males, 11 females; 3-56years old, median age, 17years old) who presented with acute unilateral hip pain. RESULTS: All 25 individuals were suspected of having a flare-up of the hip based on clinical history and a favorable response to a four day course of high-dose oral prednisone...
August 16, 2017: Bone
https://www.readbyqxmd.com/read/28822297/validation-of-the-choking-risk-assessment-and-pneumonia-risk-assessment-for-adults-with-intellectual-and-developmental-disability-idd
#2
Justine Joan Sheppard, Georgia A Malandraki, Paula Pifer, Jill Cuff, Michelle Troche, Bronwyn Hemsley, Susan Balandin, Avinash Mishra, Roberta Hochman
BACKGROUND: Risk assessments are needed to identify adults with intellectual and developmental disability (IDD) at high risk of choking and pneumonia. AIM: To describe the development and validation of the Choking Risk Assessment (CRA) and the Pneumonia Risk Assessment (PRA) for adults with IDD. METHODS: Test items were identified through literature review and focus groups. Five-year retrospective chart reviews identified a positive choking group (PCG), a negative choking group (NCG), a positive pneumonia group (PPG), and a negative pneumonia group (NPG)...
August 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28818714/the-role-of-physical-activity-in-improving-physical-fitness-in-children-with-intellectual-and-developmental-disabilities
#3
Kyla Collins, Kerri Staples
BACKGROUND: One in three children in North America are considered overweight or obese. Children with intellectual and developmental disabilities (IDD) are at an increased risk for obesity than their typically developing peers. Decreased physical activity (PA) and low physical fitness may be contributing factors to this rise in obesity. AIM: Because children with IDD are at an increased risk of diseases related to inactivity, it is important to improve health-related physical fitness to complete activities of daily living and improve health...
August 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28816915/physician-awareness-of-developmental-screening-and-referral-in-the-state-of-kuwait
#4
Hollie Hix-Small, Khaled Alkherainej
OBJECTIVE: In the State of Kuwait, family physicians and pediatricians are responsible for identifying and referring children at risk of disability. The aims of this study were to better understand physician (1) use of developmental screening instruments, (2) referral practices for children at risk of developmental disability, (3) interpretation of screening results, and (4) anticipatory guidance topics prioritized over child screening. METHODS: A nonprobability volunteer, self-selection sample of family physicians, general practitioners, and pediatricians (n = 398) completed a 60-item paper questionnaire...
August 9, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#5
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815955/the-role-of-iqsec2-in-syndromic-intellectual-disability-narrowing-the-diagnostic-odyssey
#6
Benjamin M Helm, Zoe Powis, Carlos E Prada, Olga L Casasbuenas-Alarcon, Tonya Balmakund, G B Schaefer, Stephen G Kahler, Julie Kaylor, Susan Winter, Yuri A Zarate, Samantha A Schrier Vergano
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#7
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815583/educational-and-rehabilitation-service-utilization-in-adolescents-born-preterm-or-with-a-congenital-heart-defect-and-at-high-risk-for-disability
#8
Annette Majnemer, Noemi Dahan-Oliel, Charles Rohlicek, Sean Hatzigeorgiou, Barbara Mazer, Desiree B Maltais, Norbert Schmitz
AIM: This historical cohort study describes the use of educational and rehabilitation services in adolescents born preterm or with a congenital heart defect (CHD). METHOD: Parents of 76 young people (mean age 15y 8mo [SD 1y 8mo]) with CHD and 125 born ≤29 weeks gestational age (mean age 16y [SD 2y 5mo]) completed a demographics questionnaire including educational and rehabilitation resource utilization within the previous 6 months. Rehabilitation services included occupational therapy, physical therapy, speech language pathology, psychology...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28815571/functional-electrical-stimulation-of-the-ankle-dorsiflexors-during-walking-in-spastic-cerebral-palsy-a-systematic-review
#9
REVIEW
Irene Moll, Johannes S H Vles, Dan L H M Soudant, Adhiambo M A Witlox, Heleen M Staal, Lucianne A W M Speth, Yvonne J M Janssen-Potten, Marcel Coenen, Suzanne M Koudijs, R Jeroen Vermeulen
AIM: To assess the effect of functional electrical stimulation (FES) of ankle dorsiflexors in children and adolescents with spastic cerebral palsy (CP) during walking. METHOD: A systematic review was performed using the American Academy of Cerebral Palsy and Developmental Medicine methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six databases were searched for studies applying interventions to patients aged younger than 20 years...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28814832/combinatorial-and-sequential-delivery-of-gemcitabine-and-oseltamivir-phosphate-from-implantable-poly-d-l-lactic-co-glycolic-acid-cylinders-disables-human-pancreatic-cancer-cell-survival
#10
Stephanie Allison Logan, Amanda J Brissenden, Myron R Szewczuk, Ronald J Neufeld
Combination therapies against multiple targets are currently being developed to prevent resistance to a single chemotherapeutic agent and to extirpate pre-existing resistance in heterogeneous cancer cells in tumors due to selective pressure from the single agent. Gemcitabine (GEM), a chemotherapeutic agent, is the current standard of care for patients with pancreatic cancer. Patients with pancreatic cancer receiving GEM have a low progression-free survival. Given the poor response rate to GEM, cancer cells are known to develop rapid resistance to this drug...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28814566/neurodevelopmental-outcome-at-2-years-for-preterm-children-born-at-22-to-34-weeks-gestation-in-france-in-2011-epipage-2-cohort-study
#11
Véronique Pierrat, Laetitia Marchand-Martin, Catherine Arnaud, Monique Kaminski, Matthieu Resche-Rigon, Cécile Lebeaux, Florence Bodeau-Livinec, Andrei S Morgan, François Goffinet, Stéphane Marret, Pierre-Yves Ancel
Objectives To describe neurodevelopmental outcomes at 2 years corrected age for children born alive at 22-26, 27-31, and 32-34 weeks' gestation in 2011, and to evaluate changes since 1997.Design Population based cohort studies, EPIPAGE and EPIPAGE-2.Setting France.Participants 5567 neonates born alive in 2011 at 22-34 completed weeks' gestation, with 4199 survivors at 2 years corrected age included in follow-up. Comparison of outcomes reported for 3334 (1997) and 2418 (2011) neonates born alive in the nine regions participating in both studies...
August 16, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28814550/changing-neurodevelopment-at-8-years-in-children-born-extremely-preterm-since-the-1990s
#12
Jeanie L Y Cheong, Peter J Anderson, Alice C Burnett, Gehan Roberts, Noni Davis, Leah Hickey, Elizabeth Carse, Lex W Doyle
BACKGROUND AND OBJECTIVE: Survival of extremely preterm (EP; <28 weeks' gestation) infants has increased over the last 2 decades. Equivalent reductions in developmental morbidity in early childhood have not been consistently reported. The aim of this study was to determine trends in neurodevelopmental outcomes at 8 years of age of children born EP (22-27 completed weeks' gestation) over the past 2 decades. METHODS: Population-based cohorts of all EP survivors born in the state of Victoria, Australia in 1991-1992, 1997, and 2005 were recruited at birth...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28812508/around-the-world
#13
(no author information available yet)
1 International Association for the Scientific Study of Intellectual and Developmental Disabilities Asia-Pacific regional congress 13-16 November, Bangkok, Thailand www.iassidd.org.
August 16, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#14
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28807811/clinical-validation-of-a-genome-wide-dna-methylation-assay-for-molecular-diagnosis-of-imprinting-disorders
#15
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Siu, David Rodenhiser, Charles Schwartz, Bekim Sadikovic
Genomic imprinting involves a DNA methylation-dependent and parent-of-origin-specific regulation of gene expression. Clinical assays for imprinting disorders are genomic locus-, disorder-, and molecular defect-specific. We aimed to clinically validate a genome-wide approach for simultaneous testing of common imprinting disorders in a single assay. Using genome-wide DNA methylation arrays, epigenetic profiles from peripheral blood of patients with Angelman, Prader-Willi, Beckwith-Wiedemann, and Silver-Russell syndrome were compared to a reference cohort of 361 unaffected individuals...
August 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28804747/care-experiences-of-adults-with-a-dual-diagnosis-and-their-family-caregivers
#16
David B Nicholas, Avery Calhoun, Anne Marie McLaughlin, Janki Shankar, Linda Kreitzer, Masimba Uzande
Individuals diagnosed with developmental disability and mental illness (a "dual diagnosis") contend with multiple challenges and system-related barriers. Using an interpretive description approach, separate qualitative interviews were conducted with adults with a dual diagnosis (n = 7) and their caregiving parents (n = 8) to examine care-related experiences. Results indicate that individuals with a dual diagnosis and their families experience misunderstanding and stigma. Families provide informal complex care amid insufficient and uncoordinated services but are often excluded from formal care planning...
January 2017: Global Qualitative Nursing Research
https://www.readbyqxmd.com/read/28803755/communicating-complex-genomic-information-a-counselling-approach-derived-from-research-experience-with-autism-spectrum-disorder
#17
Ny Hoang, Cheryl Cytrynbaum, Stephen W Scherer
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate...
July 29, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#18
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28797191/systematic-review-seeking-erythropoietin-role-for-neuroprotection-in-neonates-with-hypoxic-ischemic-encephalopathy-presently-where-do-we-stand
#19
Bhawan Deep Garg, Deepak Sharma, Anju Bansal
BACKGROUND: Hypoxic ischemic encephalopathy (HIE) is one of the leading causes of neonatal mortality in developing countries and leads to some form of neuro-developmental disability in latter part of life. AIMS: To evaluate the role of erythropoietin (EPO) in neuro-protection for term newborn having HIE. METHOD: The literature search was done for various trials by searching the Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, EMBASE, Web of science, Scopus, Index Copernicus, and other data base...
August 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28793200/fasd-folic-acid-and-formic-acid-an-unholy-alliance-in-the-alcohol-abusing-mother
#20
Bhushan M Kapur, Marta Baber
Alcohol consumption during pregnancy remains a significant cause of preventable birth defects and developmental disabilities, however, the mechanism of toxicity remains unclear. Methanol is present as a congener in many alcoholic beverages and is formed endogenously. Since ethanol is preferentially metabolized over methanol, it has been found in the sera and CSF of alcoholics. Toxicity resulting from methanol has been attributed to formic acid. Formic acid is present in significantly higher quantities in biofluids of alcoholic patients...
August 9, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
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