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https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28288694/mtor-inhibitors-in-the-pharmacologic-management-of-tuberous-sclerosis-complex-and-their-potential-role-in-other-rare-neurodevelopmental-disorders
#11
REVIEW
David N Franz, Jamie K Capal
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is implicated in the disease pathology, and evidence exists to support the use of mTOR inhibitors in treatment. The mTOR pathway has also been investigated as a potential treatment target for several other rare diseases. TSC research has highlighted the value of pursuing targeted therapies based on underlying molecular pathophysiology...
March 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28288406/early-adversity-and-risk-for-moderate-to-severe-unipolar-depressive-disorder-in-adolescence-and-adulthood-a-register-based-study-of-978-647-individuals
#12
Signe Kirk Dahl, Janne Tidselbak Larsen, Liselotte Petersen, Mads Bonde Ubbesen, Preben Bo Mortensen, Trine Munk-Olsen, Katherine Louise Musliner
BACKGROUND: Early adversity is a known risk factor for unipolar depression. We examined the impact of 9 types of early adversity on risk for moderate to severe unipolar depression in adolescence or adulthood, and evaluated whether these effects were moderated by gender and adversity timing. METHODS: We conducted a prospective, population-based cohort study using Danish national registers. The sample included all individuals born in Denmark between 1980 and 1998 (N=978,647)...
March 7, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28286136/is-a-positive-developmental-behavioral-screening-score-sufficient-to-justify-referral-a-review-of-evidence-and-theory
#13
R Christopher Sheldrick, Daryl Garfinkel
In their recommendations on screening for autism and developmental disabilities, the American Academy of Pediatrics recommends referral subsequent to a positive screening result. In this paper, we argue that positive screening results are not always sufficient to justify a referral. We demonstrate that while positive predictive values are often low, they actually overstate the probability of having a disorder for many children who screen positive. Moreover, recommended screening thresholds are seldom set to ensure that the benefits of referral will equal or exceed the costs and risk of harm, which is a necessary condition for an optimal threshold in the field of decision analysis...
March 7, 2017: Academic Pediatrics
https://www.readbyqxmd.com/read/28286008/compound-heterozygous-variants-in-robo1-cause-a-neurodevelopmental-disorder-with-absence-of-transverse-pontine-fibers-and-thinning-of-the-anterior-commissure-and-corpus-callosum
#14
Sonia F Calloni, Julie S Cohen, Avner Meoded, Jane Juusola, Fabio M Triulzi, Thierry A G M Huisman, Andrea Poretti, Ali Fatemi
BACKGROUND: Axonal guidance disorders are characterized by white matter tracts with an anomalous course, failure to cross the midline, or presence of anomalous white matter tracts. Diffusion tensor imaging (DTI) is a suitable noninvasive, in vivo neuroimaging tool to study axonal guidance disorders. We describe a novel disorder in a boy with compound heterozygous variants in the ROBO1 gene. PATIENT DESCRIPTION: The child was referred at age 13 months because of developmental delay...
February 2, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28285739/neuropsychiatric-comorbidities-in-adults-with-phenylketonuria-a-retrospective-cohort-study
#15
Deborah A Bilder, Joyce A Kobori, Jessica L Cohen-Pfeffer, Erin M Johnson, Elaina R Jurecki, Mitzie L Grant
Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans...
March 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28283846/intervention-for-anxiety-and-problem-behavior-in-children-with-autism-spectrum-disorder-and-intellectual-disability
#16
Lauren J Moskowitz, Caitlin E Walsh, Emile Mulder, Darlene Magito McLaughlin, Greg Hajcak, Edward G Carr, Jennifer R Zarcone
There is little research on the functional assessment and treatment of anxiety and related problem behavior in children with autism spectrum disorder (ASD), particularly those with intellectual and developmental disability (IDD). In a recent study, we evaluated a multimethod strategy for assessing anxiety in children with ASD and IDD (Am J Intellect Dev Disabil 118:419-434, 2013). In the present study, we developed treatments for the anxiety and associated problem behavior in these same children. A multiple baseline design was used to evaluate the effectiveness of a multicomponent intervention package, incorporating individualized strategies from Positive Behavior Support and Cognitive Behavioral Therapy...
March 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28282707/post-partum-depression-effect-on-child-health-and-development
#17
Fatemeh Abdollahi, Farideh Rezai Abhari, Mehran Zarghami
While studies have shown the disastrous effects of post-partum depression (PPD) on children's behaviors, there is relatively lack of reliable data in Asian countries. This study examined the relative significance of maternal PPD in children's developmental disabilities at age four. In a longitudinal study design (2009), 1801 pregnant women attending in primary health centers of Mazandaran province in the north of Iran provided self-reports of depression from two to twelve postpartum weeks using Edinburgh Postnatal Depression Scale (EPDS)...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28278017/mothering-children-with-developmental-disabilities-a-critical-perspective-on-health-promotion
#18
Nazilla Khanlou, Nida Mustafa, Luz Maria Vazquez, Deborah Davidson, Karen Yoshida
We present findings of a qualitative study exploring what constitutes relevant health promotion initiatives for immigrant mothers of children with developmental disabilities. We apply a social ecological approach, with a focus on gender-specific and transformative health promotion, to examine factors impacting mothers' health and wellbeing. Twenty-eight semi-structured and open-ended interviews were conducted with immigrant mothers in the greater Toronto area, Canada. Mothers identified facilitators, challenges, and strategies for their health promotion, providing relevant insights for meaningful intervention...
February 22, 2017: Health Care for Women International
https://www.readbyqxmd.com/read/28275972/dihydropyrimidine-dehydrogenase-deficiency-metabolic-disease-or-biochemical-phenotype
#19
M Fleger, J Willomitzer, R Meinsma, M Alders, J Meijer, R C M Hennekam, M Huemer, A B P van Kuilenburg
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28275086/the-autism-epidemic-ethical-legal-and-social-issues-in-a-developmental-spectrum-disorder
#20
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments...
March 8, 2017: Neurology
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