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https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#1
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28802352/assessment-of-weight-gain-following-adenotonsillectomy-in-children-with-down-syndrome
#2
Christopher F D'Esposito, Zachary Farhood, Andrew B Baker, Shaun A Nguyen, Angela C LaRosa, Chitra Lal, David R White
INTRODUCTION: Adenotonsillectomy (T&A) has been associated with postoperative weight gain in children. The purpose of this study is to determine whether a similar association exists in children with Down syndrome (DS). METHODS: The medical records of 311 DS patients were reviewed. Subjects were classified into either a control group or surgical group based on whether they had undergone adenotonsillectomy (T&A). Subjects were excluded if they only had one recorded BMI...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28801420/protocol-study-for-a-randomised-controlled-double-blind-clinical-trial-involving-virtual-reality-and-anodal-transcranial-direct-current-stimulation-for-the-improvement-of-upper-limb-motor-function-in-children-with-down-syndrome
#3
Jamile Benite Palma Lopes, Luanda André Collange Grecco, Renata Calhes Franco de Moura, Roberta Delasta Lazzari, Natalia de Almeida Carvalho Duarte, Isabela Miziara, Gileno Edu Lameira de Melo, Arislander Jonathan Lopes Dumont, Manuela Galli, Claudia Santos Oliveira
INTRODUCTION: Down syndrome results in neuromotor impairment that affects selective motor control, compromising the acquisition of motor skills and functional independence. The aim of the proposed study is to evaluate and compare the effects of multiple-monopolar anodal transcranial direct current stimulation and sham stimulation over the primary motor cortex during upper limb motor training involving virtual reality on motor control, muscle activity, cerebral activity and functional independence...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28798921/screening-of-celiac-disease-in-down-syndrome-old-and-new-dilemmas
#4
REVIEW
Momcilo Pavlovic, Karolina Berenji, Marko Bukurov
Celiac disease (CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat, rye, and barley. Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome (DS). The symptomatic form of CD in patients with DS is more frequent than asymptomatic forms. However, growth impairment, anemia, intermittent diarrhea, and constipation are symptoms and signs typically of children with DS without CD. Late identification of the disease can lead to various complications, sometimes even very severe...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28780903/communication-about-emotions-during-storybook-reading-effects-of-an-instruction-programme-for-children-with-down-syndrome
#5
Ji Young Na, Krista M Wilkinson
PURPOSE: Children with Down syndrome often have more restricted emotion expression and recognition skills than their peers who are developing typically, and potentially fewer opportunities to learn these skills. This study investigated the effect of the Strategies for Talking about Emotions as PartnerS (STEPS) programme on parents' provision of opportunities for emotion communication using visual communication supports. METHOD: The study used a single-subject multiple-baseline across participants design with three parent-child dyads...
August 7, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28767121/combined-association-of-presenilin-1-and-apolipoprotein-e-polymorphisms-with-maternal-meiosis-ii-error-in-down-syndrome-births
#6
Pranami Bhaumik, Priyanka Ghosh, Sujay Ghosh, Eleanor Feingold, Umut Ozbek, Biswanath Sarkar, Subrata Kumar Dey
Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin -1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms...
July 31, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28766730/hope-coping-and-relationship-quality-in-mothers-of-children-with-down-syndrome
#7
Jessica D Cless, Briana S Nelson Goff, Jared A Durtschi
Parenting a child with Down syndrome may pose unique challenges for parents' relationship quality. This study used structural equation modeling with a sample of 351 mothers of children with Down syndrome to test if hope mediated the association between mothers' various coping behaviors and mothers' relationship quality. Hope was defined as a generalized positive state that comes from a personal sense of agency. Results indicated a greater degree of religious coping and internal coping were each significantly associated with more hope, whereas support seeking was not related with more hope...
August 2, 2017: Journal of Marital and Family Therapy
https://www.readbyqxmd.com/read/28762292/tonsillectomy-in-children-with-down-syndrome-a-national-cohort-of-inpatients
#8
Andrew B Baker, Zachary Farhood, Kathleen A Brandstetter, Ronald J Teufel, Angela LaRosa, David R White
Objective To describe the cost, length of stay, and incidence of postoperative hemorrhage associated with Down syndrome (DS) patients undergoing tonsillectomy in a national sample of inpatient children. Study Design This study uses a national cross-sectional cohort to analyze children with and without DS undergoing tonsillectomy with or without adenoidectomy. Setting 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database. Subjects and Methods The database was analyzed for postoperative hemorrhage and respiratory compromise, length of stay, and total charges of hospital stay...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28755534/treadmill-interventions-in-children-under-six-years-of-age-at-risk-of-neuromotor-delay
#9
REVIEW
Marta Valentín-Gudiol, Katrin Mattern-Baxter, Montserrat Girabent-Farrés, Caritat Bagur-Calafat, Mijna Hadders-Algra, Rosa Maria Angulo-Barroso
BACKGROUND: Delayed motor development may occur in children with Down syndrome, cerebral palsy, general developmental delay or children born preterm. It limits the child's exploration of the environment and can hinder cognitive and social-emotional development. Literature suggests that task-specific training, such as locomotor treadmill training, facilitates motor development. OBJECTIVES: To assess the effectiveness of treadmill interventions on locomotor development in children with delayed ambulation or in pre-ambulatory children (or both), who are under six years of age and who are at risk for neuromotor delay...
July 29, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28749784/concentrations-of-leptin-adiponectin-and-other-metabolic-parameters-in-non-obese-children-with-down-syndrome
#10
Nikhil Tenneti, Devi Dayal, Sheetal Sharda, Inusha Panigrahi, Mohammed Didi, Savita Verma Attri, Naresh Sachdeva, Anil Kumar Bhalla
BACKGROUND: Recent data indicates that adults with Down syndrome (DS) are at increased risk for cardiovascular disease (CVD) that significantly contributes to their morbidity and mortality. Although identification of cardiometabolic risk factors during childhood is desirable to design preventive interventions, the data on such risk factors in children with DS is scarce. The aim of this study was to study the cardiometabolic risk factors such as insulin resistance (IR), leptin and adiponectin concentrations, lipid abnormalities and leptin resistance in non-obese children with DS...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28747993/adolescent-adaptive-behavior-profiles-in-williams-beuren-syndrome-down-syndrome-and-autism-spectrum-disorder
#11
Carolina Grego Del Cole, Sheila Cavalcante Caetano, Wagner Ribeiro, Arthur Melo E E Kümmer, Andrea Parolin Jackowski
BACKGROUND: Adaptive behavior can be impaired in different neurodevelopmental disorders and may be influenced by confounding factors, such as intelligence quotient (IQ) and socioeconomic classification. Our main objective was to verify whether adaptive behavior profiles differ in three conditions-Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. Although the literature points towards each disorder having a characteristic profile, no study has compared profiles to establish the specificity of each one...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#12
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
August 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28737206/-nephro-urological-malformations-in-children-with-down-syndrome
#13
Felipe Cavagnaro
No abstract text is available yet for this article.
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28735906/predicting-the-presence-of-sleep-disordered-breathing-in-children-with-down-syndrome
#14
Joy Nehme, Robert LaBerge, Mary Pothos, Nick Barrowman, Lynda Hoey, Andrea Monsour, Madelaine Kukko, Sherri Lynne Katz
OBJECTIVE: Sleep-disordered breathing (SDB) is highly prevalent in children with Down syndrome. Given the scarcity of resources and the presence of risk factors for SDB in this population, the objective of this study is to identify the clinical predictors of SDB, which would assist prioritization of children with Down syndrome for SDB evaluation. METHODS: A retrospective cohort study was conducted on children enrolled in the Down syndrome clinic at CHEO who underwent polysomnography in 2004-2014...
August 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28730138/ileal-perforation-with-norovirus-gastroenteritis-in-a-3-month-old-infant
#15
Seol Woo Wi, Su Jin Lee, Eun Kyeong Kang, Sung Min Cho
Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Bowel perforation due to norovirus infection is rare. We report a case of small bowel perforation with norovirus gastroenteritis in the infant with Down syndrome during the hospitalization with pneumonia...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28728769/social-inclusion-of-children-with-down-syndrome-jewish-and-muslim-mothers-knowledge-attitudes-beliefs-and-behavioral-intentions
#16
Sivia Barnoy, Anna Biton, Michal Itzhaki
PURPOSE: The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. DESIGN AND METHODS: A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728615/success-of-tonsillectomy-for-obstructive-sleep-apnea-in-children-with-down-syndrome
#17
David G Ingram, Amanda G Ruiz, Dexiang Gao, Norman R Friedman
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and associated with significant morbidity. In the current study we examined polysomnographic outcomes of children with DS who underwent tonsillectomy. METHODS: A retrospective chart review of children with DS who underwent a tonsillectomy between 2009-2015 was performed. All children had either a concurrent adenoidectomy or had previously underwent an adenoidectomy. Children with preoperative and postoperative polysomnograms within 6 months of surgery were included in the analysis...
July 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28726285/a-cross-sectional-analysis-of-executive-function-in-down-syndrome-from-2-to-35%C3%A2-years
#18
S J Loveall, F A Conners, A S Tungate, L J Hahn, T D Osso
BACKGROUND: Previous research has indicated a unique profile of executive function (EF) in children and adolescents with Down syndrome (DS). However, there is a paucity of research on EF in adults with DS. This study aimed to gain a broader understanding of strengths and weaknesses in EF in DS from 2 to 35 years. METHOD: Parents of 112 individuals with DS between 2 and 35 years participated in this study. Parents either completed the Behaviour Rating Inventory of Executive Function - for individuals 6+ years - or the Behaviour Rating Inventory of Executive Function Preschool Version - for children 2-5 years...
July 20, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28692948/parenting-children-with-down-syndrome-an-analysis-of-parenting-styles-parenting-dimensions-and-parental-stress
#19
B Allyson Phillips, Frances Conners, Mary Elizabeth Curtner-Smith
BACKGROUND: Effective parenting is vital for a child's development. Although much work has been conducted on parenting typically developing children, little work has examined parenting children with Down syndrome. AIMS: The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with DS and mothers of TD children. METHODS AND PROCEDURES: Thirty-five mothers of children with DS and 47 mothers of TD children completed questionnaires about parenting, parental stress, child behavior problems, and child executive function...
July 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28680631/surgical-medical-and-developmental-outcomes-in-patients-with-down-syndrome-and-cataracts
#20
Stephanie L Santoro, Dema Atoum, Robert B Hufnagel, William W Motley
BACKGROUND: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. MATERIALS AND METHODS: Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. A total of 47 patients with Down syndrome without cataracts were used as a developmental control...
2017: SAGE Open Medicine
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