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https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#1
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27917556/the-mental-health-of-children-providing-care-to-their-elderly-parent
#2
Dörte Heger
Providing care to a disabled parent can be a psychologically strenuous activity with potential negative consequences for the caregiver's mental health. At the same time, experiencing the declining health of a parent - often the very reason for the parent's care needs - can impact the adult child's mental health negatively. Because both events are usually observed simultaneously, disentangling the "caregiver effect" and the "family effect" remains a challenge. Using longitudinal data of the elderly population in Europe and an instrumental variable approach to address possible endogeneity concerns, this paper separately estimates the effect of caregiving and the decline of a parent's health on adult children's mental health...
December 4, 2016: Health Economics
https://www.readbyqxmd.com/read/27909069/parental-reports-of-serious-illness-and-disability-among-children-aged-3-16%C3%A2-years-from-uk-military-families
#3
Charandeep K Khera, S A M Stevelink, N T Fear
BACKGROUND: Prevalence rates of child illness according to parents have been found to vary greatly in the general population, with even less known about children of military parents. Mothers are generally considered more informed about their children's problems than fathers. This paper aimed to establish the prevalence of serious illness and disability among children from military families, noting the difference between parental reports. METHODS: Male serving and ex-serving personnel with children aged 3-16 years were invited to take part in an online questionnaire and telephone interview based on their child's health...
December 1, 2016: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/27888963/the-effectiveness-of-structured-supported-education-programs-for-families-with-intellectually-disabled-children-the-example-of-turkey
#4
Sibel Coskun Cenk, Gonca Karayagiz Muslu, Deniz Sarlak
This a quasi-experimental study that was conducted at a specialized education school in a city in Turkey for the purpose of evaluating the effectiveness of a structured supported education program for the parents of children with intellectual disability (ID). The education program was conducted with a total of 8 groups attending 3 sessions. 104 individuals completing the program sessions and comprised the sample. In a comparison of parents' levels of knowledge, the mean number of correct answers on the pretest was 15±3...
December 2016: Archives of Psychiatric Nursing
https://www.readbyqxmd.com/read/27888564/communicating-with-children-and-families-about-obesity-and-weight-related-topics-a-scoping-review-of-best-practices
#5
REVIEW
A C McPherson, J Hamilton, S Kingsnorth, T J Knibbe, M Peters, J A Swift, K Krog, L Chen, A Steinberg, G D C Ball
BACKGROUND: Healthcare professionals have called for direction on how best to communicate about weight-related topics with children and families. Established scoping review methodology was used to answer the question: 'How can healthcare professionals best communicate with children and their families about obesity and weight-related topics?' METHODS: We searched four scientific databases, two grey literature repositories and 14 key journals (2005-2016). Inclusion criteria were (i) children up to and including 18 years of age and/or their parents; (ii) communication about healthy weight, overweight, obesity or healthy/active living; and (iii) healthcare setting...
November 26, 2016: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/27878923/prevalence-trends-and-custody-among-children-of-parents-with-intellectual-disabilities-in-norway
#6
Jan Tøssebro, Turid Midjo, Veronika Paulsen, Berit Berg
BACKGROUND: This study addresses children of parents with intellectual disability in Norway. The aim was to examine: (i) the impact of definitions of intellectual disability on prevalence, (ii) whether numbers were increasing, (iii) the prevalence of motherhood and fatherhood and (iv) rates of lost custody. METHODS: Analyses of national registers (n = 30 834) and mapping in four municipalities (n = 85). RESULTS: 0.19% of all children had parents with recorded intellectual disability, increasing to 0...
November 23, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27878604/-paediatric-palliative-care-ppc-a-particular-challenge-tasks-aims-and-specifics
#7
Boris Zernikow, Barbara Gertz, Carola Hasan
In Germany, there are about 50,000 children, adolescents and young adults with life threatening or life limiting conditions, who will likely die due to their illness before reaching the age of 40. In recent years prevalence has increased significantly.The aim of paediatric palliative care (PPC) is to optimize quality of life for the child, adolescent or young adult and its whole family. Whenever possible the patient should be treated at home.The very complex and rare diseases as well as the patients' wide range of age and developmental stage are particularly challenging within PPC...
November 23, 2016: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/27875579/wealth-and-disability-in-later-life-the-english-longitudinal-study-of-ageing-elsa
#8
Juliana Lustosa Torres, Maria Fernanda Lima-Costa, Michael Marmot, Cesar de Oliveira
We examined wealth inequalities in disability, taking into account the effect of both depression and social support among older English adults using data from 5,506 community-dwelling people aged 50 years and over from the English Longitudinal Study of Ageing (ELSA). Disability was measured as self-reported limitations in the Basic Activities of Daily Living (ADL) and Instrumental Activities of Daily Living (IADL). Depressive symptomatology was measured using the 8-item Center for Epidemiological Studies-Depression (CES-D) scale...
2016: PloS One
https://www.readbyqxmd.com/read/27859028/phenotypic-and-genotypic-characterization-of-chinese-children-diagnosed-withtuberous-sclerosis-complex
#9
Guang Yang, ZeNing Shi, Yan Meng, XiuYu Shi, LingYu Pang, ShuFang Ma, MengNa Zhang, YanYan Wang, LiPing Zou
We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101 patients (86.3%) with mutations in TSC2 gene. Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included five novel mutations; all patients had skin manifestations and epilepsy...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27858699/adolescent-lumbar-disc-herniation-impact-diagnosis-and-treatment
#10
Mustafa Karademir, Olcay Eser, Ergün Karavelioglu
BACKGROUND: Symptomatic lumbar intervertebral disc herniation (LDH) is rare in children and adolescents. To date, the treatments available for child and adolescent LDH, and the effect of each treatment, have not been fully reviewed. OBJECTIVE: The purpose of this retrospective study is to report the etiology, familial history, presenting symptoms, level of herniation, duration of symptoms, radiological findings, as well as treatment methods and outcome. METHODS: We retrospectively reviewed medical records of all patients with inclusion criteria of being younger than 20 years...
November 11, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27846732/complete-mental-health-in-adult-siblings-of-those-with-a-chronic-illness-or-disability
#11
Madeleine Hallion, Amanda Taylor, Rachel Roberts
INTRODUCTION: Sibling relationships have lifelong significance and childhood chronic illness and disability can have considerable impacts on healthy siblings, influencing development into adulthood. Research has not yet assessed well-being in this population using measures of both mental health and mental illness. Thus, this study assessed well-being in a comprehensive manner using the complete mental health (CMH) model. METHOD: Participants (N = 144) included both adult siblings of those with chronic illness or disability and adults with healthy siblings...
November 16, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27843367/management-of-rheumatoid-arthritis-during-pregnancy-challenges-and-solutions
#12
REVIEW
Megan L Krause, Ashima Makol
Rheumatoid arthritis, a chronic inflammatory autoimmune disease with significant physical disability, affects women three times more frequently than men, often in their childbearing years. Parenthood decisions can be challenging, often affected by perceptions of their disease state, health care needs, and complex pharmacological treatments. Many women struggle to find adequate information to guide them on pregnancy planning, lactation, and early parenting in relation to their chronic condition. The expanded availability and choice of pharmacotherapies have supported optimal disease control prior to conception and enhanced physical capabilities for women to successfully overcome the challenges of raising children but require a detailed understanding of their risks and safety in the setting of pregnancy and breastfeeding...
2016: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/27836818/knowledge-exchange-and-discovery-in-the-age-of-social-media-the-journey-from-inception-to-establishment-of-a-parent-led-web-based-research-advisory-community-for-childhood-disability
#13
Dianne J Russell, Jennifer Sprung, Dayle McCauley, Olaf Kraus de Camargo, Francine Buchanan, Roman Gulko, Rachel Martens, Jan Willem Gorter
BACKGROUND: Efforts to involve parents and families in all aspects of research, from initiating the question through to dissemination and knowledge exchange, are increasing. While social media as a method for health communication has shown numerous benefits, including increasing accessibility, interactions with others, and access to health care information, little work has been published on the use of social media to enhance research partnerships. OBJECTIVE: Our objective was to describe the development and evaluation of a Web-based research advisory community, hosted on Facebook and connecting a diverse group of parents of special needs children with researchers at CanChild Centre for Childhood Disability Research...
November 11, 2016: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/27833512/impact-of-sociodemographic-attributes-and-dental-caries-on-quality-of-life-of-intellectual-disabled-children-using-ecohis
#14
Vikram Pal Aggarwal, Anmol Mathur, C L Dileep, Manu Batra, Diljot Kaur Makkar
OBJECTIVES: To assess the impact of oral health outcomes on Oral Health-Related Quality of Life (OHRQoL) among intellectual disabled children and their families. METHODOLOGY: OHRQoL based study was conducted among 150 intellectual disabled children students in the North West part of the country, Rajasthan, India. Guardians were asked to complete questionnaire on socioeconomic status and the Early Childhood Oral Health Impact Scale (ECOHIS) on their perception of the children's OHRQoL...
October 2016: International Journal of Health Sciences
https://www.readbyqxmd.com/read/27829649/disability-adjusted-life-years-for-diabetes-in-cuban-children-and-adolescents-1990-2010
#15
Emma Domínguez-Alonso
INTRODUCTION Shifts in diabetes onset to earlier ages, globally and in Cuba, signify greater risk of early complications and premature death, with consequent economic and social repercussions for families and health systems. OBJECTIVE Describe the trend in diabetes burden in Cuban children and adolescents in the period 1990 to 2010, in terms of disability-adjusted life years. METHODS A descriptive epidemiological study was conducted of diabetes burden in Cuba, analyzing the years 1990, 1995, 2000, 2005 and 2010 for the age group 0-19 years...
October 2016: MEDICC Review
https://www.readbyqxmd.com/read/27819320/descriptive-epidemiology-of-prenatal-and-perinatal-risk-factors-in-a-chinese-population-with-reading-disorder
#16
Lingfei Liu, Jia Wang, Shanshan Shao, Xiu Luo, Rui Kong, Xiaohui Zhang, Ranran Song
Several prenatal and perinatal factors have been found to be associated with developmental dyslexia (reading disorder) in alphabetic language. Given the absence of relevant studies of Chinese children, the present study tries to investigate these risk factors. A total of 45,850 students were recruited from grades three to six, from seven cities of Hubei province. Dyslexia in Chinese was diagnosed based on children's clinical symptoms. The clinical symptoms of children's reading performance were assessed by Dyslexia Checklist for Chinese Children (DCCC) and Pupil Rating Scale Revised Screening for Learning Disabilities (PRS) which were completed by parent/guardian and header teacher respectively...
November 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27818403/an-overview-of-transition-planning-for-students-who-are-deafblind
#17
Mary Zatta, Betsy McGinnity
Children who are deafblind are one of the lowest-incidence yet most diverse groups receiving services mandated by the Individuals With Disabilities Education Improvement Act. Despite this population's diversity, the development of communication skills is critical for all children who are deafblind, and is the foundation on which good transition planning can be built. The authors describe key research findings and other professional literature on transition planning and services guided by the quality of life principle...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27818397/critical-issues-in-the-lives-of-children-and-youth-who-are-deafblind
#18
Catherine Nelson, Susan M Bruce
The coeditors of an American Annals of the Deaf special issue on deaf-blindness introduce readers to critical issues surrounding children and youth who are deafblind. These issues-early identification, communication, social-emotional needs, family and multicultural issues, universal design and assistive technology, transition planning, and personnel preparation-are explored further in the articles that follow. By way of introduction, the present article provides definitions of deafblindness and a discussion of the heterogeneous nature of the population...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27807865/the-meaning-of-participation-for-children-in-malawi-insights-from-children-and-caregivers
#19
F Nelson, C Masulani-Mwale, E Richards, S Theobald, M Gladstone
BACKGROUND: Global rates of childhood disability are high and are estimated through tools that focus on impairment, functioning and activity. The International Classification of Functioning, Disability and Health has promoted a framework to define disability more broadly and to include participation. New outcome measures have now been created to assess participation of children with disabilities for use in research and clinical practice. In order to use these in other cultural contexts, the validity of concepts and tools developed should be evaluated prior to use...
November 2, 2016: Child: Care, Health and Development
https://www.readbyqxmd.com/read/27802102/prevalence-of-autism-spectrum-disorders-among-children-with-intellectual-disability
#20
Bridgette L Tonnsen, Andrea D Boan, Catherine C Bradley, Jane Charles, Amy Cohen, Laura A Carpenter
Autism spectrum disorders (ASD) often co-occur with intellectual disability (ID) and are associated with poorer psychosocial and family-related outcomes than ID alone. The present study examined the prevalence, stability, and characteristics of ASD estimates in 2,208 children with ASD and ID identified through the South Carolina Autism and Developmental Disabilities Network. The prevalence of ASD in ID was 18.04%, relative to ASD rates of 0.60%-1.11% reported in the general South Carolina population. Compared to children with ASD alone, those with comorbid ID exhibited increased symptom severity and distinct DSM-IV-TR profiles...
November 2016: American Journal on Intellectual and Developmental Disabilities
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