Search results for "DOWN SYNDROME"

Motor development and Down syndrome

2019

Abstract The chapter aims to analyze motor development in Down syndrome (DS) population. In the light of a holistic perspective to typical and atypical development, there is a renewed scientific interest on the role of motor skills to promote general health. A multidisciplinary approach, that involves findings from psychology, neuroscience, kinesiology and education is employed. Motor proficiency is a set of functions necessary for everyday life which allow moving around in the environment and manipulating tools; it's typically articulated into posture, gross motor and fine motor skills. Ample research highlighted a strong correlation among Intellectual Quotient and motor skills demonstrati…

A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome

2014

Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.We studied a girl with DS and CH who had a mutation in the promoter sequence of the PAX8 gene.A female infant was found to have trisomy 21 and CH, with a venous thyrotropin (TSH) of150 mU/L and a free thyroxine (fT4) of 15.1 pmol/L (day 12). Thyroid peroxidase antibodies and thyroglobulin antibodies were elevated. Scintigraphy showed normal uptake, but ultrasound identified a small gland with heterogenous echotexture and cystic changes. Sequence analysis of the PAX8 gene revealed a new heterozygo…

Comparative Analysis of fundamental motor skills in Finnish children with and without intellectual disability : A replication study

2021

Children with intellectual disability (ID) characteristically have motor problems. The purpose of this study was to compare differences in motor skills between Finnish children with and without ID, to compare the differences between children with ID with and without DS, and to systematically replicate Rintala & Loovis (2013). Twenty-five Finnish children (10 girls, 15 boys; M age = 8.7 yr.; SD 1.2) with ID were tested using the TGMD-3. Children with ID (including six children with DS) were matched according to age and gender with typically developing children in order to identify differences in motor skills. The findings revealed significant variability in the motor skills of children with …

Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.

2005

Abstract Background In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. Aims To evaluate a possible correlation between TNFα, IFNγ and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods Single nucleotide polymorphisms of TNFα (−308G → A promoter region), IFNγ (+874T → A promoter region) and IL-10 (−1082G → A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease–Down syndrome patients. Results The 10 coeliac disease–D…

No paradox, no progress: inverse cancer comorbidity in people with other complex diseases.

2011

Salvador Martínez [et al.]. 5 p., 2 tables and references.

Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

1998

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a pe…

Additive effect of factors related to assisted conception on the reduction of maternal serum pregnancy-associated plasma protein A concentrations and…

2013

Objective To analyze whether assisted conceptions need adjustments in first-trimester Down syndrome screening and why modifications in screening markers occur. Design Eleven-year cohort retrospective analysis. Setting Maternal-fetal medicine unit. Patient(s) Two thousand eleven naturally conceived normal singleton pregnancies and 2,042 normal singleton pregnancies achieved with assisted conception: 350 by IUI and 1,692 with IVF (n = 328) or intracytoplasmic sperm injection (ICSI; n=1,364), using nondonor (n = 1,086) or donated ova (n = 606), with fresh (n = 1,432) or frozen (n = 260) embryos. Intervention(s) Comparison of ultrasound and biochemical markers of first-trimester Down syndrome s…

Re: Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester com…

2016

Newborn infants and the moral significance of intellectual disabilities.

2001

This article presents moral philosophical arguments regarding life-saving medical treatment that may be more available to infants without disabilities than to infants with intellectual disabilities. The ideas are that children with disabilities are a burden to their families and to society and that a happy life may not be attainable for these children and their families. I argue that human well-being is not based merely on individual characteristics, but is a result of the individual's relation to other people. Further, children with disabilities are not inevitably a burden to their families or society. Accordingly, intellectual disability is not a sufficient reason for withholding life-sa…

Motor Coordination and Global Development in Subjects with Down Syndrome: The Influence of Physical Activity

2022

Background: Many research studies have investigated motor impairments and delayed development in children with Down Syndrome (DS). However, very few studies detected these features in adults with DS. Hence, this study aimed to investigate the relationship between motor coordination and global development in subjects with DS, including adults. Furthermore, the second aim was to detect any differences in motor coordination and global development as a function of the practice of physical activity (PA) in this population. Methods: Twenty-five participants with DS (10 f, 15 m), with a chronological mean age of 27.24 years and development mean age of cognitive area of 4.93 years, were enrolled an…