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https://www.readbyqxmd.com/read/28331247/unintentional-childhood-injuries-in-urban-delhi-a-community-based-study
#1
Giridara Gopal Parmeswaran, Mani Kalaivani, Sanjeev Kumar Gupta, Anil Kumar Goswami, Baridalyne Nongkynrih
BACKGROUND: Childhood injuries claim around a million lives around the world each year. A community-based study on childhood injuries would provide valuable information on the epidemiology of injuries. OBJECTIVE: To assess the prevalence of unintentional childhood injuries in an urban locality and determine various sociodemo graphic factors associated with childhood injuries. METHODS: The study was done in urban Delhi among 1,639 children aged less than 18 years...
January 2017: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#2
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326571/family-centred-service-differences-in-what-parents-of-children-with-cerebral-palsy-rate-important
#3
M Terwiel, M W Alsem, R C Siebes, K Bieleman, M Verhoef, M Ketelaar
BACKGROUND: A family-centred approach to services of children with disabilities is widely accepted as the foundational approach to service delivery in paediatric health care. The 56 items of the Measure of Processes of Care questionnaire (MPOC-56) all reflect elements of family-centred service. In this study, we investigated which elements of family-centred service are rated important by parents of children with cerebral palsy by adding a question on importance to each item of the MPOC-56 (MPOC-56-I)...
March 22, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28326443/radiological-clinical-and-functional-evaluation-using-the-quick-disabilities-of-the-arm-shoulder-and-hand-questionnaire-of-children-with-medial-epicondyle-fractures-treated-surgically
#4
Federico Canavese, Lorenza Marengo, Alexandru Tiris, Mounira Mansour, Marie Rousset, Antoine Samba, Antonio Andreacchio, Alain Dimeglio
PURPOSE: The main goal of this study was to retrospectively evaluate the clinical, functional and radiographic outcomes of displaced medial epicondyle fractures with or without associated elbow dislocation in children undergoing surgical treatment and to evaluate upper-extremity function with the Quick Disbilities of the Arm, Shoulder and Hand (Quick DASH) questionnaire. The hypothesis was that patients with associated elbow dislocation would have similar functional outcome to patients with displaced fractures with or without intra-articular entrapment of the medial epicondyle...
March 22, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28325082/-i-do-like-the-activities-which-i-can-do%C3%A2-leisure-participation-experiences-of-children-with-movement-impairments
#5
Parimala S Kanagasabai, Hilda Mulligan, Leigh A Hale, Brigit Mirfin-Veitch
AIM: To explore in depth the leisure participation experiences of children with movement impairments. METHODS: We used Interpretative Phenomenological Analysis approach to interpret and understand the experiences of 22 children with movement impairments, aged between 6 and 12 years. Children expressed their views through flexible child-centred methods of data collection that allowed the children to draw, paint, use stickers, and demonstrate their leisure activities and equipment while communicating about their experiences...
March 21, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28321970/the-health-and-economic-well-being-of-us-mothers-with-intellectual-impairments
#6
Robyn M Powell, Susan L Parish, Ilhom Akobirshoev
BACKGROUND: While the United States has seen increased attention by policymakers on the rights of parents with disabilities, there is limited understanding of the health and economic well-being of parents with intellectual impairments. This study compares the health and economic well-being of mothers with and without intellectual impairments. METHODS: This descriptive, exploratory study is a secondary analysis of the Fragile Families and Child Wellbeing Study. This study includes a subsample of mothers of three-year-old children (n = 1561), including mothers with intellectual impairments (n = 263) and without intellectual impairments (n = 1298)...
March 21, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28320584/growth-charts-for-brazilian-children-with-down-syndrome-birth-to-20-years-of-age
#7
Fabio Bertapelli, Stamatis Agiovlasitis, Maira Rossmann Machado, Raísa do Val Roso, Gil Guerra-Junior
BACKGROUND: The growth of youth with Down syndrome (DS) differs from that of youth without DS, and growth charts specific to DS have been developed. However, little is known about the growth of Brazilian youth with DS. The objective of this study was to construct growth charts for Brazilian youth with DS and compare the growth data with the Child Growth Standards of the World Health Organization (WHO) and charts for children with DS from other studies. METHODS: Mixed longitudinal and cross-sectional data were collected at University of Campinas, 48 specialized centers for people with intellectual disabilities, and two foundations for people with DS between 2012 and 2015...
March 17, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28299257/cleft-lip-and-palate-parental-experiences-of-stigma-discrimination-and-social-structural-inequalities
#8
Wasiu Lanre Adeyemo, Olutayo James, Azeez Butali
BACKGROUND: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common "phenomenon" experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. MATERIALS AND METHODS: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28295454/home-and-the-social-worlds-beyond-exploring-influences-in-the-lives-of-children-of-mothers-with-intellectual-disability
#9
S Collings, G Llewellyn, R Grace
BACKGROUND: Mothers with intellectual disability are likely to raise their children in socially disadvantaged circumstances, and many face social isolation; however, the impact of a potentially restricted home context on children's social worlds has not been examined. This study was conducted to explore influences in the social worlds of children of mothers with intellectual disability from a child's perspective. METHODS: Seven children aged 7 to 11 years took part in at least two semi-structured interviews over a year...
March 10, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28288531/occupational-therapists-and-physiotherapists-perceptions-of-implementing-occupational-performance-coaching
#10
Fiona Graham, Pauline Boland, Jenny Ziviani, Sylvia Rodger
PURPOSE: Occupational Performance Coaching (OPC) has been proposed as an intervention for working with caregivers towards achievement of goals for themselves and their children. Preliminary studies indicate the effectiveness of OPC; however, translation into practice requires an understanding of therapists' perceptions of applying OPC in their service delivery settings. This study explored physio- and occupational-therapists' experiences of using OPC and their perceptions of the contextual factors which influence its implementation...
March 13, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28286964/factors-impacting-participation-in-sports-for-children-with-limb-absence-a-qualitative-study
#11
Batoul Sayed Ahmed, Marena Lamy, Debra Cameron, Lisa Artero, Sandra Ramdial, Matthew Leineweber, Jan Andrysek
BACKGROUND: Individuals with limb absence benefit from participating in sports. While barriers and facilitators affecting sport participation are well documented for adults, they have not been explored for children with limb absence. PURPOSE: To identify the perceived factors impacting participation in sports according to children with limb absence and their parents. METHODS: This study uses a descriptive qualitative study design. Nineteen participants, consisting of children and their parents, were recruited from an outpatient hospital clinic for semi-structured interviews...
March 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28286136/is-a-positive-developmental-behavioral-screening-score-sufficient-to-justify-referral-a-review-of-evidence-and-theory
#12
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/28276169/intergenerational-transfers-and-informal-care-for-disabled-elderly-persons-in-china-evidence-from-charls
#13
Xiaoting Liu, Bei Lu, Zhixin Feng
Aiming at 'ageing healthier and ageing better', a certain amount of high-quality informal care should be available for elderly persons with physical disability as formal care is barely accessible in China. The demographic transition and family structural changes have dramatically weakened traditional norms of filial piety and the structure of intergenerational transfers. This article employed nationwide representative data from the first wave (2011) of Chinese Health and Retirement Longitudinal Study (CHARLS) in order to identify the duration of informal care provision at home for frail elders (1122 in rural areas and 577 in urban areas, total 1699), measured in monthly hours, before estimating the associations between intergenerational transfers and the received time of informal care with Tobit Model analysis...
March 9, 2017: Health & Social Care in the Community
https://www.readbyqxmd.com/read/28275928/daily-couple-experiences-and-parent-affect-in-families-of-children-with-versus-without-autism
#14
Sigan L Hartley, Leann Smith DaWalt, Haley M Schultz
We examined daily couple experiences in 174 couples who had a child with autism spectrum disorder (ASD) relative to 179 couples who had a child without disabilities and their same-day association with parent affect. Parents completed a 14-day daily diary in which they reported time with partner, partner support, partner closeness, and positive and negative couple interactions and level of positive and negative affect. One-way multivariate analyses of covariance and dyadic multilevel models were conducted. Parents of children with ASD reported less time with partner, lower partner closeness, and fewer positive couple interactions than the comparison group...
March 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#15
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28264988/maltreatment-risk-among-children-with-disabilities
#16
Miriam J Maclean, Scott Sims, Carol Bower, Helen Leonard, Fiona J Stanley, Melissa O'Donnell
BACKGROUND: Children with disabilities are at increased risk of child maltreatment; however, there is a gap in the evidence about whether all disabilities are at equal risk and whether risk factors vary according to the type of disability. METHODS: A population-based record-linkage study of all children born in Western Australia between 1990 and 2010. Children with disabilities were identified by using population-based registers and risk of maltreatment determined by allegations reported to the Department for Child Protection and Family Support...
March 6, 2017: Pediatrics
https://www.readbyqxmd.com/read/28260997/children-with-intellectual-disability-and-hospice-utilization
#17
Lisa C Lindley, Mari Beth Colman, John T Meadows
Over 42,000 children die each year in the United States, including those with intellectual disability (ID). Survival is often reduced when children with intellectual disability also suffer from significant motor dysfunction, progressive congenital conditions, and comorbidities. Yet, little is known about hospice care for children with intellectual disability. The purpose of this study was to explore the relationship between intellectual disability and hospice utilization. Additionally, we explored whether intellectual disability combined with motor dysfunction, progressive congenital conditions, and comorbidities influenced pediatric hospice utilization...
February 2017: Journal of Hospice and Palliative Nursing: JHPN
https://www.readbyqxmd.com/read/28257693/hypomorphic-pathogenic-variants-in-taf13-are-associated-with-autosomal-recessive-intellectual-disability-and-microcephaly
#18
Hasan Tawamie, Igor Martianov, Natalie Wohlfahrt, Rebecca Buchert, Gabrielle Mengus, Steffen Uebe, Luigi Janiri, Franz Wolfgang Hirsch, Johannes Schumacher, Fulvia Ferrazzi, Heinrich Sticht, André Reis, Irwin Davidson, Roberto Colombo, Rami Abou Jamra
In two independent consanguineous families each with two children affected by mild intellectual disability and microcephaly, we identified two homozygous missense variants (c.119T>A [p.Met40Lys] and c.92T>A [p.Leu31His]) in TATA-box-binding-protein-associated factor 13 (TAF13). Molecular modeling suggested a pathogenic effect of both variants through disruption of the interaction between TAF13 and TAF11. These two proteins form a histone-like heterodimer that is essential for their recruitment into the general RNA polymerase II transcription factor IID (TFIID) complex...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28250563/specific-learning-disabilities-and-psychiatric-comorbidities-in-school-children-in-south-india
#19
Shailaja Bandla, Gowri Devi Mandadi, Anand Bhogaraju
BACKGROUND: Specific learning disabilities (SLDs) are an important cause of academic underachievement in children and are also associated with comorbidities like attention deficit hyperactivity disorder (ADHD) which further have an impact on the child's education. AIMS: To estimate the prevalence and psychosocial profile and psychiatric comorbidities in children with SLD in two settings, i.e., on special (remedial) education and schools and to compare the findings with normal children...
January 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28250454/mutations-in-dcc-cause-isolated-agenesis-of-the-corpus-callosum-with-incomplete-penetrance
#20
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual...
February 27, 2017: Nature Genetics
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