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https://www.readbyqxmd.com/read/29140588/family-management-of-childhood-chronic-conditions-does-it-make-a-difference-if-the-child-has-an-intellectual-disability
#1
Marcia Van Riper, George J Knafl, Cecelia Roscigno, Kathleen A Knafl
The purpose of this analysis was to assess the applicability of the Family Management Measure (FaMM) to families in which there was a child with an intellectual disability versus a chronic condition. Drawing on data from 571 parents of children with a chronic physical condition and 539 parents of children with Down syndrome, we compared the two groups across the six FaMM scales. After accounting for the covariate effects of race, ethnicity, family income, and child age, we found significant differences in four of the six FaMM scales, with parents of children with Down syndrome reporting a significantly more positive view on the Condition Management Effort and View of Condition Impact scales and a significantly less positive view on the Child's Daily Life and Condition Management Ability scales than parents of children with a chronic physical condition...
November 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29137441/aberrations-in-circulating-inflammatory-cytokine-levels-in-patients-with-down-syndrome-a-meta-analysis
#2
Yan Zhang, Meng Che, Jing Yuan, Yun Yu, Chang Cao, Xiao-Yan Qin, Yong Cheng
Evidence suggests that immune system alterations in Down syndrome (DS) may be early events that drive neuropathological and cognitive changes of Alzheimer's disease. The primary objective of this meta-analysis was to investigate whether there is an abnormal cytokine profile in DS patients when compared with healthy control (HC) subjects. A systematic search of Pubmed and Web of Science identified 19 studies with 957 DS patients and 541 HC subjects for this meta-analysis. Random effects meta-analysis demonstrated that patients with DS had significantly increased circulating tumor necrosis factor-α (Hedges' g = 1...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#3
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#4
Kurt Eggers, Sabine Van Eerdenbrugh
PURPOSE: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29127498/dynamics-in-prevalence-of-down-syndrome-in-children-with-congenital-heart-disease
#5
Constanze Pfitzer, Paul C Helm, Lisa-Maria Rosenthal, Felix Berger, Ulrike M M Bauer, Katharina Rl Schmitt
We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014...
November 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29124959/speech-therapy-in-adolescents-with-down-syndrome-in-pursuit-of-communication-as-a-fundamental-human-right
#6
Susan Rvachew, Marla Folden
PURPOSE: The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders...
November 10, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29124810/environment-learning-from-virtual-exploration-in-individuals-with-down-syndrome-the-role-of-perspective-and-sketch-maps
#7
E Toffalini, C Meneghetti, B Carretti, S Lanfranchi
BACKGROUND: Spatial knowledge about an environment is an important determinant of ability to move effectively within it and of personal autonomy. Individuals with Down's syndrome (DS) have difficulty managing configural visuospatial information. METHOD: Twenty-nine individuals with DS and 29 typically developing (TD) children, matched for mental age, learned about environments through virtual exploration using a route or survey view. A sketch map of the environment was or was not presented before exploration...
November 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29111901/-parenting-stress-in-mothers-of-children-with-down-syndrome-in-preschool-age
#8
Klaus Sarimski
Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. These results show significantly elevated stress scores in scales measuring demanding and less acceptable behavior of the children (child characteristics)...
November 2017: Praxis der Kinderpsychologie und Kinderpsychiatrie
https://www.readbyqxmd.com/read/29111614/has-non-invasive-prenatal-testing-impacted-termination-of-pregnancy-and-live-birth-rates-of-infants-with-down-syndrome
#9
Melissa Hill, Angela Barrett, Mahesh Choolani, Celine Lewis, Jane Fisher, Lyn S Chitty
BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS). AIM: Investigate the impact of NIPT on termination and live birth rates for DS. METHODS: Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29110530/parenting-children-with-down-syndrome-societal-influences
#10
Lourdes Huiracocha, Carlos Almeida, Karina Huiracocha, Jorge Arteaga, Andrea Arteaga, Stuart Blume
Most studies of parenting children with Down syndrome (DS) have been conducted in industrialized countries. They suggest that sensitive communication on the part of professionals, and social support, can lead to acceptance and positive adjustments in the family. This study examined the impact of a diagnosis of DS on Ecuadorian families, in particular at how the diagnosis had been communicated and received, as well as the feelings and experiences which followed. Despite considerable progress in recent years, Ecuador is still marked by discriminatory attitudes which affect children with disabilities and their families, and by the persistence of widespread poverty...
January 1, 2017: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29108162/fetal-therapy-for-down-syndrome-report-of-three-cases-and-a-review-of-the-literature
#11
Patrick James Baggot, Rocel Medina Baggot
BACKGROUND: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To our knowledge, these are the first published cases of fetal therapy for Down syndrome. METHODOLOGY: Reports of three cases. In all cases, treatment was both biochemical (e...
2017: Issues in Law & Medicine
https://www.readbyqxmd.com/read/29106863/clinical-variables-determining-the-success-of-adenotonsillectomy-in-children-with-down-syndrome
#12
Maíra da Rocha, Renata Caroline Mendonça Ferraz, Vitor Guo Chen, Gustavo Antonio Moreira, Reginaldo Raimundo Fujita
OBJECTIVES: To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. METHODS: Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29105081/long-term-sequelae-in-survivors-of-childhood-leukemia-with-down-syndrome-a-childhood-cancer-survivor-study-report
#13
Robert E Goldsby, Kayla L Stratton, Shannon Raber, Arthur Ablin, Louise C Strong, Kevin Oeffinger, Charles A Sklar, Gregory T Armstrong, Leslie L Robison, Smita Bhatia, Wendy M Leisenring
BACKGROUND: Children with Down syndrome (DS) are at increased risk of developing acute leukemia and are more prone to acute toxicities. We studied the incidence and severity of chronic health conditions among survivors of childhood leukemia with DS compared with those without DS. METHODS: Chronic health conditions reported by questionnaire were compared between 154 pediatric leukemia survivors with DS and 581 without DS, matched by leukemia, age at diagnosis, race/ethnicity, sex, radiation location and chemotherapy exposure using Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs)...
November 3, 2017: Cancer
https://www.readbyqxmd.com/read/29102805/from-altered-synaptic-plasticity-to-atypical-learning-a-computational-model-of-down-syndrome
#14
Ángel Eugenio Tovar, Gert Westermann, Alvaro Torres
Learning and memory rely on the adaptation of synaptic connections. Research on the neurophysiology of Down syndrome has characterized an atypical pattern of synaptic plasticity with limited long-term potentiation (LTP) and increased long-term depression (LTD). Here we present a neurocomputational model that instantiates this LTP/LTD imbalance to explore its impact on tasks of associative learning. In Study 1, we ran a series of computational simulations to analyze the learning of simple and overlapping stimulus associations in a model of Down syndrome compared with a model of typical development...
November 2, 2017: Cognition
https://www.readbyqxmd.com/read/29100478/self-reported-stress-among-adolescent-siblings-of-individuals-with-autism-spectrum-disorder-and-down-syndrome
#15
Carolyn M Shivers, Casey McGregor, Ashlea Hough
Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29098288/hypoglossal-nerve-stimulation-in-adolescents-with-down-syndrome-and-obstructive-sleep-apnea
#16
Gillian R Diercks, Carissa Wentland, Donald Keamy, Thomas Bernard Kinane, Brian Skotko, Vanessa de Guzman, Ellen Grealish, John Dobrowski, Ryan Soose, Christopher J Hartnick
Importance: Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half of patients after adenotonsillectomy. Children with DS who have persistent OSA often do not tolerate treatment with positive pressure airway support devices or tracheotomy for their residual moderate to severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers an electrical impulse to anterior branches of the hypoglossal nerve in response to respiratory variation, resulting in tongue base protrusion that alleviates upper airway obstruction in adults...
November 2, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29080484/mental-rotation-ability-and-everyday-life-spatial-activities-in-individuals-with-down-syndrome
#17
Chiara Meneghetti, Enrico Toffalini, Barbara Carretti, Silvia Lanfranchi
Although certain visuospatial abilities, such as mental rotation, are crucially important in everyday activities, they have been little explored in individuals with Down syndrome (DS). This study investigates: i) mental rotation ability in individuals with DS; and ii) its relation to cognitive abilities and to everyday spatial activities. Forty-eight individuals with DS and 48 typically-developing (TD) children, matched on measures of vocabulary and fluid intelligence, were compared on their performance in a rotation task that involved detecting which of two figures would fit into a hole if rotated (five angles of rotation were considered: 0°, 45°, 90°, 135°, 180°)...
October 25, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29069232/qualitative-and-quantitative-analysis-of-oropharyngeal-swallowing-in-down-syndrome
#18
André Vinicius Marcondes Natel Sales, Célia Maria Giacheti, Paula Cristina Cola, Roberta Gonçalves da Silva
PURPOSE: To describe the qualitative and quantitative temporal analysis of oropharyngeal swallowing in children diagnosed with Down syndrome (DS) through a case series study of six individuals aged 4 to 17 months (mean age = 11.16 months; median = 12 months). METHODS: Qualitative and quantitative temporal analysis of swallowing using videofluoroscopy and specific software. The following parameters were assessed: presence or absence of oral incoordination, labial sphincter sealing incompetence, oral residue, posterior oral spillage, laryngotracheal penetration and aspiration, pharyngeal and total oral transit time (TOTT)...
October 23, 2017: CoDAS
https://www.readbyqxmd.com/read/29067542/women-s-understanding-and-attitudes-towards-down-syndrome-and-other-genetic-conditions-in-the-context-of-prenatal-screening
#19
Sarah Long, Peter O'Leary, Roanna Lobo, Jan E Dickinson
In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women's attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia...
October 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29054759/creld1-gene-variants-and-atrioventricular-septal-defects-in-down-syndrome
#20
Ambreen Asim, Sarita Agarwal, Inusha Panigrahi, Aditya Narayan Sarangi, Srinivasan Muthuswamy, Aditya Kapoor
Congenital heart defects (CHD) are seen in around 40% of the Down syndrome patients. Atrioventricular Septal Defect (AVSD) or endocardial cushion defect is commonest form of CHD in these children. CRELD1 gene is implicated in causation of sporadic AVSD. In the present study, we evaluated the association and significance of CRELD1 variants with AVSD in Down syndrome (DS) patients. Sequencing was done in blood samples from 3 groups: group I (DS with AVSD), group II (DS without AVSD) and group III (non-syndromic AVSD cases)...
October 17, 2017: Gene
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