Search results for "DOWN SYNDROME"

Study of postural control and body balance in subjects with Down syndrome

2020

Purpose. Body imbalance and poor postural control have negative impact on gait and may increase the risk of falling in healthy individuals as well as those with Down syndrome (DS). Since people with DS have lower physical levels than people who do not present this condition, the purpose of our research was to compare features of postural control and body balance between subjects affected by DS and a control sample. Methods. Participants enrolled were divided into the following two groups: A DS group (DSG; n = 22; 9 females and 13 males; age range: 16-36 years) and an age-matched control group (CG; n = 25; 11 females and 14 males; age range: 16-36 years). All participants were subjected to t…

Pain assessment in Down Syndrome patients: a narrative review of the literature

2018

OBIETTIVO. Questo articolo fornisce una descrizione sintetica degli strumenti di valutazione del dolore acuto e cronico nei soggetti con sindrome di Down, indipendentemente dalla loro età e grado di deterioramento cognitivo. METODI. È stata realizzata una revisione narrativa della letteratura, ricercando tutti gli strumenti di valutazione del dolore nella popolazione con sindrome di Down, utilizzando database diversi, quali PubMed, CINAHL, Scopus, Web of Science (ISI) e Cochrane, senza limiti di tempo e pubblicati fino al mese di Ottobre 2017. Sono stati inclusi tutti gli strumenti validati applicabili ai soggetti con di sindrome di Down pubblicati sia in lingua inglese che italiana. Studi …

Inferential processes in readers with Down syndrome

2013

The aim of this work is to know if the source of the difficulty in making inferences, readers with Down syndrome, is in access to prior knowledge or constructing ideas from purely textual knowledge (based on Saldaña and Frith, 2002 for autism). Involved a sample of 20 students with Down syndrome and mild mental retardation (mean IQ = 60) and a control group of 20 children without cognitive deficits. They were matched as to their extent read metal age via Prueba de Evaluación del Retraso Lector (average 8 years). We created two experimental situations: a) subjects had to generate inferences based on physical knowledge, b) social inferences about knowledge. The ability to check and reaction t…

Astrocytes of the murine model for Down Syndrome Ts65Dn display reduced intracellular ionic zinc.

2014

Zinc is an essential trace element that is critical for a large number of structural proteins, enzymatic processes and transcription factors. In the brain, zinc ions are involved in synaptic transmission. The homeostasis of zinc is crucial for cell survival and function, and cells have developed a wide variety of systems to control zinc concentration. Alterations in free zinc concentration have been related with brain dysfunction. Down Syndrome individuals present alterations in free zinc concentration and in some of the proteins related with zinc homeostasis. We have analyzed the amount of free zinc and the zinc chelating protein metallothionein 3 in the astrocytes using primary cultures o…

Does Down's syndrome support the homocysteine theory of atherogenesis?

2006

Abstract Down syndrome (DS) is generally considered as an “atheroma-free model”. In this preliminary study, we investigated homocysteine, folate and Vitamin B 12 levels in 13 DS patients (male, average age 60 years) and 20 age-matched individuals. We also studied lipid fractions, and polymorphisms for Cystothionine β-synthase (CBS), 5,10-methyl-tetrahydro-folate reductase (MTHFR) and apolipoprotein E (Apo-E) genes. However, DS patients with the MTHFR TT genotype showed an increased of plasma homocysteine (tHcy). Our results indicate that this group of “healthy old” Down syndrome patients, although showing some classical biochemical risk factors for atherosclerosis, did not suffer clinical c…

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011

2015

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, …

Improvement of gross motor and cognitive abilities by an exercise training program: three case reports

2014

Marianna Alesi,1 Giuseppe Battaglia,2 Michele Roccella,1 Davide Testa,1 Antonio Palma,2 Annamaria Pepi1 1Department of Psychology, 2Department of Law, Social and Sport Science, University of Palermo, Palermo, Italy Background: This work examined the efficacy of an integrated exercise training program (coach and family) in three children with Down syndrome to improve their motor and cognitive abilities, in particular reaction time and working memory. Methods: The integrated exercise training program was used in three children with Down syndrome, comprising two boys (M1, with a chronological age of 10.3 years and a mental age of 4.7 years; M2, with a chronological age of 14.6 years and a ment…

F33Application of early sonographic markers of Down syndrome to pregnancies achieved by assisted reproduction techniques

2000

Prenatally detected double trisomy: Klinefelter and Down syndrome

2006

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of u…

Major Congenital Anomalies in Babies Born With Down Syndrome

2014

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…