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https://www.readbyqxmd.com/read/28239961/in-pursuit-of-neurophenotypes-the-consequences-of-having-autism-and-a-big-brain
#1
David G Amaral, Deana Li, Lauren Libero, Marjorie Solomon, Judy Van de Water, Ann Mastergeorge, Letitia Naigles, Sally Rogers, Christine Wu Nordahl
A consensus has emerged that despite common core features, autism spectrum disorder (ASD) has multiple etiologies and various genetic and biological characteristics. The fact that there are likely to be subtypes of ASD has complicated attempts to develop effective therapies. The UC Davis MIND Institute Autism Phenome Project is a longitudinal, multidisciplinary analysis of children with autism and age-matched typically developing controls; nearly 400 families are participating in this study. The overarching goal is to gather sufficient biological, medical, and behavioral data to allow definition of clinically meaningful subtypes of ASD...
February 27, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28230456/off-label-prescribing-for-children-with-migraines-in-u-s-ambulatory-care-settings
#2
L Leanne Lai, Leroy Koh, Jane Ai-Chen Ho, Alexander Ting, Augustine Obi
BACKGROUND: Migraines, Which Affect About 10% Of School-Age Children In The United States, Can Significantly Impair Quality Of Life. Despite Potential Disability, Many Children Do Not Receive Treatment Or Prophylaxis, Since Medications Specifically Approved For Children Are Significantly Less Than For Adults. There Is Also Controversy Surrounding The Apparent Widespread Practice Of Prescribing Off-Label Medications For Children With Migraines. However, Little Research Has Been Done To Identify Physician-Prescribing Patterns Of Migraine Medication For Children...
March 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28219081/current-methods-of-evaluating-speech-language-outcomes-for-preschoolers-with-communication-disorders-a-scoping-review-using-the-icf-cy
#3
Barbara Jane Cunningham, Karla N Washington, Amanda Binns, Katelyn Rolfe, Bernadette Robertson, Peter Rosenbaum
Purpose: The purpose of this scoping review was to identify current measures used to evaluate speech-language outcomes for preschoolers with communication disorders within the framework of the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY; World Health Organization, 2007). Method: The review involved 5 phases outlined by Arksey and O'Malley (2005) and further developed by Levac, Colquhoun, and O'Brien (2010): (a) articulating the research question; (b) identifying relevant studies; (c) selecting studies; (d) charting the data; and (e) collating, summarizing, and reporting the results...
February 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28218068/the-relationship-between-perceived-family-climate-and-glycemic-control-in-adolescents-with-type-1-diabetes-mellitus
#4
Şafak Eray, Halit Necmi Uçar, Fatma Çetinkaya, Erdal Eren, Pınar Vural
OBJECTIVE: Type 1 diabetes mellitus (T1DM) is a chronic disease, which ranks third in the children under 16 years old. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability and emotional over-involvement. It is known that the family environment is highly important on glycemic control in diabetic adolescents. In this study the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology will be investigated...
February 20, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28215842/family-attitudes-and-reactions-toward-pregnancy-among-women-with-physical-disabilities
#5
Robyn M Powell, Monika Mitra, Suzanne C Smeltzer, Linda M Long-Bellil, Lauren D Smith, Lisa I Iezzoni
BACKGROUND: Historically, people with disabilities who become parents have confronted discriminatory societal attitudes and public policies. Today, although more women with disabilities are bearing children, little is known about the perceptions of their pregnancies, even among their family members. In addition, little is understand about how family members' attitudes and reactions affect women with physical disabilities around the time of pregnancy. METHOD: This qualitative study involved interviews with 25 women with physical disabilities from across the United States who had a baby within the past 10 years...
February 16, 2017: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
https://www.readbyqxmd.com/read/28208966/study-of-parental-perceptions-on-health-social-needs-of-children-with-neuro-developmental-disability-and-it-s-impact-on-the-family
#6
Nusrat Jahan Rafique Ansari, Ramchandra Keshav Dhongade, Preeti Sagar Lad, Ashwin Borade, Suvarna Yg, Vishal Yadav, Ashwini Mehetre, Rahul Kulkarni
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207575/health-related-quality-of-life-among-young-children-with-cochlear-implants-and-developmental-disabilities
#7
Anat Zaidman-Zait, Deirdre Curle, Janet R Jamieson, Ruth Chia, Frederick K Kozak
OBJECTIVE: The present study examined differences in health-related quality of life (HRQoL) between deaf children with cochlear implants (CI) with and without developmental disabilities (DD) and differences across HRQoL domains within both groups of children. METHODS: Ninety-two parents of children with CI aged 3-7 years participated in this cross-sectional study. Of these children, 43 had DD (i.e., CI-DD group) and 49 had no DD or chronic illness, demonstrating overall typical development (i...
February 15, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28205297/underemployment-among-mothers-of-children-with-intellectual-disabilities
#8
Yueh-Ching Chou, Teppo Kröger, Cheng-Yun Pu
BACKGROUND: Mothers with lifelong care responsibilities might involuntarily be non-employed or work part-time, both of which are defined as "underemployment." This study aimed to investigate who these underemployed mothers are and what are the factors associated with such employment hardship when having a child with intellectual disability (ID). METHOD: An interview survey was conducted in 2011 in two local authorities of Taiwan on 876 working-age mothers with a child with intellectual disability; 514 of them were working part-time/non-employed and chosen as participants of this study...
February 16, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28199920/family-burden-child-disability-and-the-adjustment-of-mothers-caring-for-children-with-epilepsy-role-of-social-support-and-coping
#9
Jeffrey M Carlson, Paul A Miller
PURPOSE: This study was designed to contribute to the existing research on the coping behaviors, social support, and mental health outcomes in parents of children with epilepsy in the United States. METHODS: Participants included 152, predominantly Caucasian (89.5%), married (78.9%) women (95.4%). Via a web-based interface, mothers completed questionnaires assessing the impact of their child's disability on their family (i.e., severity of their child's disability, family burden, and personal stress), social resources (i...
February 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28199897/real-world-utility-of-whole-exome-sequencing-with-targeted-gene-analysis-for-focal-epilepsy
#10
Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan
OBJECTIVE: Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The 'real-world' clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis...
February 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28197818/fertility-desires-and-intentions-among-u-s-women-by-disability-status-findings-from-the-2011-2013-national-survey-of-family-growth
#11
Tina L Bloom, William Mosher, Jeanne Alhusen, Hannah Lantos, Rosemary B Hughes
Objectives We compared fertility desires and intentions among women with disabilities and women without disabilities in the United States, using a new evidence-based measure of disability. Methods We analyzed data from a sample of 5601 US women 15-44 years of age in the 2011-2013 National Survey of Family Growth. The data were analyzed via cross-tabulation and logistic regression. We classified women into those with a disability and those without a disability. Results Women with disabilities were about as likely to want a baby (61%) as women without disabilities (60%)...
February 14, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28187693/parents-experiences-of-participation-in-physical-activities-for-children-with-cerebral-palsy-protecting-and-pushing-towards-independence
#12
Katarina Lauruschkus, Eva Nordmark, Inger Hallström
PURPOSE: To explore how parents of children with cerebral palsy (CP) experience their child's participation in physical activities and to identify facilitators and barriers for being physically active and reducing sedentary behaviour. METHODS: Twenty-five parents of sixteen children, aged 8-11 years old with CP, with varying gross motor, cognitive and communicative functions and with different cultural backgrounds, participated in focus group or individual interviews...
April 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28185601/identifying-community-healthcare-supports-for-the-elderly-and-the-factors-affecting-their-aging-care-model-preference-evidence-from-three-districts-of-beijing
#13
Tianyang Liu, Xiaoning Hao, Zhenzhong Zhang
BACKGROUND: The Chinese tradition of filial piety, which prioritized family-based care for the elderly, is transitioning and elders can no longer necessarily rely on their children. The purpose of this study was to identify community support for the elderly, and analyze the factors that affect which model of old-age care elderly people dwelling in communities prefer. METHODS: We used the database "Health and Social Support of Elderly Population in Community". Questionnaires were issued in 2013, covering 3 districts in Beijing...
November 15, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/28167642/what-can-large-population-based-birth-cohort-study-ask-about-past-present-and-future-of-children-with-disorders-of-development-learning-and-behaviour
#14
Slavica K Katusic, Robert C Colligan, Scott M Myers, Robert G Voigt, Kouichi Yoshimasu, Ruth E Stoeckel, Amy L Weaver
A large cohort consisting of all children born to mothers from community provides 'natural' selection into different exposures and is a powerful resource for epidemiological research. A large population-based birth cohort with detailed systematic information already recorded, as part of longitudinal medical care, historical and current school data, detailed birth certificate data and all three resources available for every member of the birth cohort, are extremely rare. Our population-based birth cohort consists of all children born between 1976 and 2000 to mothers residing in Olmsted County, Minnesota, at the time of child's birth (N=39 890)...
February 6, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28138976/intellectual-disability-and-developmental-risk-promoting-intervention-to-improve-child-and-family-well-being
#15
Keith A Crnic, Cameron L Neece, Laura Lee McIntyre, Jan Blacher, Bruce L Baker
Initial intervention processes for children with intellectual disabilities (IDs) largely focused on direct efforts to impact core cognitive and academic deficits associated with the diagnosis. Recent research on risk processes in families of children with ID, however, has influenced new developmental system approaches to early intervention. Recent risk and resilience processes are reviewed that connect stress, family process, and the high rates of behavioral problems in children with ID that have substantial influence on child and family outcomes...
January 31, 2017: Child Development
https://www.readbyqxmd.com/read/28135894/infantile-serine-biosynthesis-defect-due-to-phosphoglycerate-dehydrogenase-deficiency-variability-in-phenotype-and-treatment-response-novel-mutations-and-diagnostic-challenges
#16
Paul J Benke, Ryan J Hidalgo, Bruce H Braffman, Judith Jans, Koen L I van Gassen, Rawda Sunbul, Ayman W El-Hattab
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity...
1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28132689/biallelic-mutations-in-dnajc12-cause-hyperphenylalaninemia-dystonia-and-intellectual-disability
#17
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28118772/the-unique-experience-of-home-for-parents-and-carers-of-children-with-disabilities
#18
Tammy Aplin, Heloise Thornton, Louise Gustafsson
The aim of this paper was to investigate the experience of home for parents and carers of children with disabilities in Australia. Data for this qualitative study were gathered using semi-structured interviews with four families living in their own homes. An inductive thematic analysis revealed two main themes. The first was titled 'Aspects making everyday life easier' explored the aspects of the home environment that facilitated home life for the child, including access to transport, services, family and home modifications...
January 24, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28107849/attitudes-to-and-beliefs-about-animal-assisted-therapy-for-children-with-disabilities
#19
Esther Yap, Adam Scheinberg, Katrina Williams
OBJECTIVES: This study assessed the attitudes and beliefs surrounding animal-assisted therapy (AAT) for the rehabilitation of children with disabilities at the Royal Children's Hospital (RCH), focusing specifically on cerebral palsy (CP), autism spectrum disorder (ASD) and acquired brain injury (ABI). This was an initial step to inform future AAT research and to understand the feasibility of interventions. DESIGN/SETTING/OUTCOME MEASURES: An online survey asking participants their opinions about the inclusion of AAT, and potential barriers to its introduction in a tertiary hospital setting was advertised on the RCH Intranet from 3 March 2015 to 3 April 2015...
February 2017: Complementary Therapies in Clinical Practice
https://www.readbyqxmd.com/read/28106811/prevalence-and-social-risk-factors-for-hearing-impairment-in-chinese-children-a-national-survey
#20
Chunfeng Yun, Zhenjie Wang, Jiamin Gao, Ping He, Chao Guo, Gong Chen, Xiaoying Zheng
Hearing impairment may affect children's communication skills, social development, and educational achievement. Little is known about the prevalence of hearing impairment among Chinese children. Data were taken from the 2006 second China National Survey on Disability (CNSD). Hearing impairment was defined as moderate (41-60 dB HL), severe (61-80 dB HL), profound (81-90 dB HL), or complete (>91 dB HL). Logistic regression was used to estimate the odds ratio (OR) and 95% confidence intervals (CI). A weighted number of 567,915 hearing impairment children were identified, yielding a prevalence of 17...
January 18, 2017: International Journal of Environmental Research and Public Health
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