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https://www.readbyqxmd.com/read/28538323/the-effect-of-a-psychomotor-education-program-on-the-static-balance-of-children-with-intellectual-disability
#1
Eleni G Fotiadou, Konstantina H Neofotistou, Paraskevi F Giagazoglou, Vasilios K Tsimaras
Fotiadou, EG, Neofotistou, KH, Giagazoglou, PF, and Tsimaras, VK. The effect of a psychomotor education program on the static balance of children with intellectual disability. J Strength Cond Res 31(6): 1702-1708, 2017-Children with intellectual disability (ID) demonstrate lower balance ability which results in substantial delays in motor growth and limits their function level. Psychomotor education comprises a holistic movement approach, with the aim to improve all aspects of each child personality. The aim of this study was to assess the effect of a psychomotor education program on static balance of school-aged children with ID...
June 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28534077/white-matter-injury-in-the-preterm-infant-pathology-and-mechanisms
#2
REVIEW
Stephen A Back
The human preterm brain is particularly susceptible to cerebral white matter injury (WMI) that disrupts the normal progression of developmental myelination. Advances in the care of preterm infants have resulted in a sustained reduction in the severity of WMI that has shifted from more severe focal necrotic lesions to milder diffuse WMI. Nevertheless, WMI remains a global health problem and the most common cause of chronic neurological morbidity from cerebral palsy and diverse neurobehavioral disabilities. Diffuse WMI involves maturation-dependent vulnerability of the oligodendrocyte (OL) lineage with selective degeneration of late oligodendrocyte progenitors (preOLs) triggered by oxidative stress and other insults...
May 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#3
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#4
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#5
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#6
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28518104/neurodevelopmental-reflex-testing-in-neonatal-rat-pups
#7
Antoinette T Nguyen, Edward A Armstrong, Jerome Y Yager
Neurodevelopmental reflex testing is commonly used in clinical practice to assess the maturation of the nervous system. Neurodevelopmental reflexes are also referred to as primitive reflexes. They are sensitive and consistent with later outcomes. Abnormal reflexes are described as an absence, persistence, reappearance, or latency of reflexes, which are predictive indices of infants that are at high risk for neurodevelopmental disorders. Animal models of neurodevelopmental disabilities, such as cerebral palsy, often display aberrant developmental reflexes, as would be observed in human infants...
April 24, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#8
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#9
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28511170/mosaic-trisomy-9p-in-a-patient-with-mild-dysmorphic-features-and-normal-intelligence
#10
Randeep Brar, Donald G Basel, David P Bick, LuAnn Weik, Peter vanTuinen, Jess F Peterson
To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28507483/effects-of-hesperidin-on-formaldehyde-induced-toxicity-in-pregnant-rats
#11
Sameha Merzoug, Mohamed Lamine Toumi
This experimental study aimed to investigate the protective effect of a bioflavonoid, hesperidin (HP), on formaldehyde (FA)-related pathophysiological and behavioral outcomes in pregnant rats and developmental aspects in their offspring. Female Wistar rats were subjected to perigestational exposure to FA (2 mg/kg/day per os) with a concomitant treatment with HP (50 mg/kg/day per os). Pregnant rats were weighed throughout gestation and tested in two behavioral paradigms (elevated plus-maze and open field) at gestational days (GD) 1, 10 and 19 to evaluate the anxiety-like behavior and locomotive alterations...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28506748/copy-number-variation-analysis-of-patients-with-intellectual-disability-from-north-west-spain
#12
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros
Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2...
May 12, 2017: Gene
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#13
B Devaux, F Chassoux, E Landré, B Turak, A Laurent, M Zanello, C Mellerio, P Varlet
INTRODUCTION: Dysembryoplastic neuroepithelial tumors and gangliogliomas are developmental glioneuronal tumors usually revealed by partial epilepsy. High epileptogenicity, childhood epilepsy onset, drug-resistance, temporal location, and seizure freedom after complete resection are common characteristics of both tumors. We report the specificity of surgical management, functional results and seizure outcome in cases of a tumor location in eloquent areas. METHODS: Among 150 patients (88 males, 3-55 years) operated on for refractory epilepsy due to a glioneuronal tumor (1990-2015), 30 (20%, dysembryoplastic neuroepithelial tumors=21; gangliogliomas=9) had a tumor located in an eloquent cortex (sensory-motor, insular or language areas)...
May 12, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#14
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28506122/examining-transitions-from-youth-to-adult-services-for-young-persons-with-autism
#15
Mathew T Milen, David B Nicholas
Autism Spectrum Disorder (ASD) presents pervasive challenges for individuals throughout their lifetime. Although some financial, community, and individual supports are available for children, there are fewer resources available for adults with ASD, their families, and/or caregivers. It is important to understand the multidimensional shifts associated with the transition from adolescence to adulthood for individuals with ASD. METHODS: To better understand the transitional process, a qualitative study comprised 11 semi-structured interviews with individuals with ASD and their families...
May 16, 2017: Social Work in Health Care
https://www.readbyqxmd.com/read/28504510/-guide-for-monitoring-children-s-development-in-pediatric-practice
#16
(no author information available yet)
The pediatrician is the best-informed professional to whom many families look to be the expert, not only on childhood illnesses but also on development. Early identification, diagnosis and monitoring of these patients are a real challenge for physicians who serve children. This guide provides recommendations for development monitoring, evaluation, diagnosis and follow up of patients with developmental delays and disabilities.
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28503535/validity-and-reliability-evidence-of-the-physical-activity-level-screening-for-preschoolers-with-developmental-delays-and-or-disabilities
#17
Changwoong Park, So-Yeun Kim, Lauriece L Zittel, Marilyn Looney
Psychometric properties of the physical activity level screening (PALS) for preschoolers with a developmental delay and/or a disability were examined in this study. The mean age of participants (16 boys and 14 girls) was 54.9 months (standard deviation, 10.4). Each participant wore one Actical accelerometer and was filmed for 20 min during the active play time. Intrarater and interrater reliability, and validity of the PALS data were examined. The proportion of agreement for intrarater was 87.5% and 85.6% for interrater reliability...
April 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28500085/the-most-common-vices-of-men-can-damage-fertility-and-the-health-of-the-next-generation
#18
Tod Fullston, Nicole O McPherson, Deirdre Zander-Fox, Michelle Lane
There is growing evidence from animal and human studies that demonstrate that acquired paternal traits can impair both a male's fertility and the health of his offspring, including advanced age, smoking, stress, trauma, under-nutrition, infection, toxin exposure, and obesity. Curiously, many of these factors manifest as impaired neurological, behavioural, and/or metabolic functioning in offspring. The underlying molecular mechanisms that respond to the paternal environment and act as vectors of intergenerational transmission are beginning to emerge...
May 12, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28497855/health-promotion-for-people-with-intellectual-disabilities-a-concept-analysis
#19
REVIEW
Anne E Roll
BACKGROUND: Whereas 'health promotion' is a well-known concept for healthcare professionals, the concept of 'health promotion for people with intellectual disabilities' and its unique associated challenges are not well understood. AIMS AND OBJECTIVE: This article provides a systematic analysis of how health promotion is being conceptualised for people with intellectual disabilities and how health promotion can work best in the light of this group's specific needs and limitations...
May 12, 2017: Scandinavian Journal of Caring Sciences
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#20
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
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