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https://www.readbyqxmd.com/read/29784605/code-seq-an-augmented-whole-exome-sequencing-enables-the-accurate-detection-of-cnvs-and-mutations-in-mendelian-obesity-and-intellectual-disability
#1
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step...
May 16, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29779396/cultural-models-of-child-disability-perspectives-of-parents-in-malaysia
#2
Jennifer Marshall, Elizabeth Doone, Mindy Price
BACKGROUND: This study examined parents' developmental concerns for their children within the context of systems of care in Malaysia. METHODS: Focus groups and interviews were conducted in peninsular Malaysia and Borneo. RESULTS: Parents' perceptions of developmental delay stemmed from three sources: the cultural, resource, and the social environments. CONCLUSION: There is a need to develop a medical support system in Malaysia that considers a life-course perspective, including prenatal care, screening/diagnosis, and services...
May 20, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29772926/caring-for-children-24-7-the-experience-of-wellchild-nurses-and-the-families-for-whom-they-are-providing-care-and-support
#3
Mark Whiting
There is a growing population of children with complex health needs and disabilities who are being cared for at home by their parents 24 hours per day, 7 days per week. Community Children's Nursing Teams are a major source of support to these children. In 2006, the charity WellChild introduced the first WellChild Nurse (WCN) post specifically focused upon this group of children. In order to gain insight into how the WCN model was supporting this group of children throughout the 24-hour day, semi-structured interviews were undertaken with 12 WCNs and 10 parents of children with a range of long-term clinical care needs...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29772924/access-to-care-among-children-with-disabilities-enrolled-in-the-masshealth-commonhealth-buy-in-program
#4
Melissa Hirschi, Angela Wangari Walter, Kasey Wilson, Kate Jankovsky, Beth Dworetzky, Meg Comeau, Sara S Bachman
Children with disabilities utilize more health-care services and incur higher costs than other children do. Medicaid Buy-In programs for children with disabilities have the potential to increase access to benefits while reducing out-of-pocket costs for families whose income exceeds Medicaid eligibility. This study sought to understand how parents and caregivers of Massachusetts children with disabilities perceive access to care under CommonHealth, Massachusetts's Medicaid Buy-In program. Parents and caregivers ( n = 615) whose children were enrolled in CommonHealth participated in a survey assessing the impact of the program...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29771161/casting-protocols-following-bont-a-injections-to-treat-spastic-hypertonia-of-the-triceps-surae-in-children-with-cerebral-palsy-and-equinus-gait-a-randomized-controlled-trial
#5
Barbara Kelly, Marilyn MacKay-Lyons, Susan Berryman, Joe Hyndman, Ellen Wood
AIM: To study the effects of single versus serial casting post-Botulinum toxin A (BoNT-A) injections on hypoextensibility of triceps surae in children, 2-7 years old, with cerebral palsy and equinus gait. METHODS: A randomized, stratified, parallel, two-group trial was conducted at a pediatric health center with assessments at baseline, precast, postcast and, 1-, 2-, and 6-month follow-ups. One week following BoNT-A injections into triceps surae muscle, a single below-knee cast (n = 10) or 3 serial casts (n = 10) were applied for 3 weeks...
May 17, 2018: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/29769808/decision-making-around-gastrostomy-tube-feeding-in-children-with-neurologic-impairment-engaging-effectively-with-families
#6
Sanjay Mahant, Eyal Cohen, Katherine E Nelson, Peter Rosenbaum
Children with neurologic impairment may not be able to feed safely or sufficiently by mouth to maintain an adequate nutritional state. Gastrostomy tube (G-tube) feeding is an important, often essential, intervention in such situations. However, many parents and families struggle with the decision to proceed with G-tube feeding. This practice point reviews common reasons for decisional conflict in parents and explores key aspects of life with G-tube feeding. A framework for shared decision-making and the International Classification of Functioning, Disability and Health (ICF) approach are highlighted...
May 2018: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29761582/blended-diets-for-gastrostomy-fed-children-and-young-people-a-scoping-review
#7
REVIEW
Anne Breaks, Christina Smith, Steven Bloch, Sally Morgan
BACKGROUND: The present review aimed to identify what is known about the use of blended diets in gastrostomy fed children and young people (i.e. children and young people refers to those who are aged up to 25 years with special educational needs or a disability in accordance with Part 3 of the Children and Family Act 2014; within the review, the word children is used for simplicity but encompasses young people too) and to identify gaps in the literature on this topic to inform future research and policy...
May 15, 2018: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/29761539/-fat-is-really-a-four-letter-word-exploring-weight-related-communication-best-practices-in-children-with-and-without-disabilities-and-their-caregivers
#8
A C McPherson, T J Knibbe, M Oake, J A Swift, N Browne, G D C Ball, J Hamilton
BACKGROUND: Health care professionals play a critical role in preventing and managing childhood obesity, but the American Academy of Pediatrics recently stressed the importance of using sensitive and nonstigmatizing language when discussing weight with children and families. Although barriers to weight-related discussions are well known, there are few evidence-based recommendations around communication best practices. Disability populations in particular have previously been excluded from work in this area...
May 15, 2018: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29757881/health-and-educational-implications-of-prematurity-in-the-united-states-national-survey-of-children-s-health-2011-2012-data
#9
Michelle M Kelly
BACKGROUND AND PURPOSE: Preterm birth is a significant public health issue, with children born prematurely experiencing educational and health difficulties throughout childhood. The aim of the descriptive secondary data analysis was to compare health implications and educational experiences in children born prematurely compared with children born at term. METHODS: The 2011/2012 National Survey of Children's Health data set was explored using separate chi-square tests of homogeneity to investigate differences in the occurrence of chronic health conditions and educationally relevant outcomes: individualized family services plan/individualized education plan (IFSP/IEP), and grade repetition between children born prematurely compared with those born at term...
March 2018: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/29755931/social-determinants-of-self-rated-health-among-japanese-mothers-of-children-with-disabilities
#10
Miyako Kimura
Caregivers of children with disability are more likely to be affected by social determinants that lead to poor health. Additionally, a previous study revealed that although mothers of a single child with disability wanted to have another child, various obstacles including social, cultural, economic, and biological factors existed and some had to give up on having another child. Since the mental health and well-being of these mothers were poorer than those of mothers with multiple children with and without disabilities, such family composition may also affect maternal health...
June 2018: Preventive Medicine Reports
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#11
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#12
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Hugues Pellerin, Virginie Czernecki, Tiphanie Priou, Jean Xavier, Angèle Consoli, Andreas Hartmann, David Cohen
AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows...
May 10, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29748345/parents-experience-when-their-child-has-chronic-abdominal-pain-a-qualitative-study-in-norway
#13
Anne Brodwall, Kari Glavin, Per Lagerløv
OBJECTIVE: Functional abdominal pain occurs frequently in children and adolescents. It is an exclusion diagnosis; somatic diseases have to be ruled out. However little explanation is given for why the child is experiencing pain. The aim was to explore the experiences of parents of children with chronic abdominal pain discharged from hospital without a somatic explanation. DESIGN: The study has a qualitative design. The open questions concerned pain experiences and management...
May 10, 2018: BMJ Open
https://www.readbyqxmd.com/read/29747769/-support-for-families-through-a-disability-resource-unit
#14
Delphine Micaëlli
The Disability Resource Unit of the mother and infant welfare protection centre aims to facilitate the care of children with a disability in day care centres or at school. Thanks to the creation of a doctor-children's nurse partnership, the unit provides families with personalised support. Listening, availability and empathy are essential in order to meet as best as possible the specific needs of the child and the parents' expectations. Interview with Véronique Labidoire, child care worker and technical advisor in the Disability Resource Unit of the Gironde's mother and infant welfare protection centre...
May 2018: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/29747768/-the-multidisciplinary-and-specific-care-of-children-with-trisomy-21
#15
Caroline Philippe Stenger, Corinne Mary, Ophélie Nartz, Emmanuelle Stephan
A centre for early medico-social action supports children aged between 0 and 6 with a disability or likely to present a developmental disorder. One such centre has put in place a specific multidisciplinary follow-up of children with trisomy 21 and their family, with the added support of a wide network of partners. Particular attention is paid to providing early guidance and support for the parents.
May 2018: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/29747643/decomposing-health-inequality-with-population-based-surveys-a-case-study-in-rwanda
#16
Kai Liu, Chunling Lu
BACKGROUND: Ensuring equal access to care and providing financial risk protection are at the center of the global health agenda. While Rwanda has made impressive progress in improving health outcomes, inequalities in medical care utilization and household catastrophic health spending (HCHS) between the impoverished and non-impoverished populations persist. Decomposing inequalities will help us understand the factors contributing to inequalities and design effective policy instruments in reducing inequalities...
May 10, 2018: International Journal for Equity in Health
https://www.readbyqxmd.com/read/29744197/influence-of-full-mouth-rehabilitation-on-oral-health-related-quality-of-life-among-disabled-children
#17
Abeer M Al-Nowaiser, Abdulaziz S Al Suwyed, Khalid H Al Zoman, Asirvatham A Robert, Tarfa Al Brahim, Sebastian G Ciancio, Sultan A Al Mubarak, Omar A El Meligy
The efficacy of full mouth rehabilitation (FMR) on oral health-related quality of life of physically disabled children was assessed. This prospective study was performed at Dental Department of Sultan Bin Abdulaziz Humanitarian City, Riyadh, and King Abdulaziz University Hospital, Jeddah, Saudi Arabia, during May 2012 to September 2014. A total of 186 physically disabled children aged 11-14 years were assigned to a test group (n = 97) or a control group (n = 89). FMR was applied for test group children at baseline and 3 months' visits, whereas those in the control group did not receive FMR...
October 2017: Clinical and Experimental Dental Research
https://www.readbyqxmd.com/read/29739244/the-relationship-between-some-neonatal-and-maternal-factors-during-pregnancy-with-the-prevalence-of-congenital-malformations-in-iran-a-systematic-review-and-meta-analysis
#18
Salman Daliri, Hamid Safarpour, Jafar Bazyar, Kourosh Sayehmiri, Arezoo Karimi, Rahman Anvary
INTRODUCTION: Congenital malformations are one of the main causes of death and disability in children. These malformations arise during embryogenesis and fetal development during pregnancy due to exposure to some environmental factors and genetic mutations. Given the high prevalence of congenital malformations in Iran, the current study was conducted to investigate the relationship between some neonatal and maternal factors during pregnancy with the prevalence of congenital malformations in Iran...
May 8, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29728871/psychological-interventions-in-psychosis-in-children-and-adolescents-a-systematic-review
#19
REVIEW
Nefeli Anagnostopoulou, Marinos Kyriakopoulos, Anca Alba
BACKGROUND: Early onset psychosis (EOP), referring to psychosis with onset before the age of 18 years, is a more severe form of psychosis associated with worse prognosis. While medication is the treatment of choice, psychological interventions are also considered to have an important role in the management of symptoms and disability associated with this condition. The present review aimed to explore the effectiveness of such interventions. METHOD: An electronic search was conducted on the Embase, Medline, and PsychInfo databases for papers of randomized controlled trials (RCTs) referring to psychological interventions in EOP...
May 4, 2018: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29725874/atypical-facial-and-head-pain-in-childhood-and-adolescence
#20
REVIEW
Licia Grazzi, Emanuela Sansone, Paul Rizzoli
PURPOSE OF REVIEW: This review will consider forms of atypical facial and head pain in children and adolescents. A brief and general overview of typical head and facial pains and treatments will be offered. Moreover, atypical head and face pain will be discussed with treatment options. RECENT FINDINGS: The most recent literature including case reports will be evaluated; possible pathophysiological mechanisms, resulting disabilities, and family and social impact will be discussed...
May 3, 2018: Current Pain and Headache Reports
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