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Browsing by Subject "Down Syndrome"
Now showing items 1-9 of 9
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Auditory-Perceptual Speech Features in Children With Down Syndrome.
(American journal on intellectual and developmental disabilities, 2019-07)Speech disorders occur commonly in individuals with Down syndrome (DS), although data regarding the auditory-perceptual speech features are limited. This descriptive study assessed 47 perceptual speech features during connected ... -
Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.
(American journal of medical genetics. Part A, 2017-11)We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting ... -
Intensive treatment of dysarthria in two adults with Down syndrome.
(Developmental neurorehabilitation, 2012-01)<h4>Objective</h4>This study investigated the impact of an established behavioural dysarthria treatment on acoustic and perceptual measures of speech in two adults with Down syndrome (DS) and dysarthria to obtain preliminary ... -
Involvement of the HERV-derived cell-fusion inhibitor, suppressyn, in the fusion defects characteristic of the trisomy 21 placenta.
(Scientific reports, 2022-06)Suppressyn (SUPYN) is the first host-cell encoded mammalian protein shown to inhibit cell-cell fusion. Its expression is restricted to the placenta, where it negatively regulates syncytia formation in villi. Since its chromosomal ... -
Outcome of transplantation for acute lymphoblastic leukemia in children with Down syndrome.
(Pediatric blood & cancer, 2014-06)We report on 27 patients with Down syndrome (DS) and acute lymphoblastic leukemia (ALL) who received allogeneic hematopoietic cell transplantation (HCT) between 2000 and 2009. Seventy-eight percent of patients received ... -
Outcome of transplantation for acute myelogenous leukemia in children with Down syndrome.
(Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2013-06)Data on outcomes of allogeneic transplantation in children with Down syndrome and acute myelogenous leukemia (DS-AML) are scarce and conflicting. Early reports stress treatment-related mortality as the main barrier; a recent ... -
Resource Needs, Availability and Use Amongst Children with Down Syndrome and their Caregivers in Galle, Sri Lanka
(2018)Background: Down Syndrome (DS) is the most commonly identified aneuploidy amongst children in Sri Lanka, with a prevalence of 76.3%. This study intended to determine the level of disability of children with DS aged 5-12, ... -
Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.
(J Child Adolesc Psychopharmacol, 2010-12)Following the completion of a 20-week, open-label study of the safety and efficacy of liquid rivastigmine for adolescents with Down syndrome, 5 of the 10 adolescents in the clinical trial continued long-term rivastigmine ... -
Sleep Disorders in Childhood Neurogenetic Disorders
(Children, 2017-09-12)Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," ...
