Search results for "ABILITIES"
showing 10 items of 538 documents
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutat…
2008
Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H)…
Inorganic arsenic exposure and neuropsychological development of children of 4-5 years of age living in Spain
2019
This study was funded by grants from Spanish Institute of Health Carlos III-Ministry of Economy and Competitiveness (INMA Network G03/176, CB06/02/0041, and FIS-FEDER: PI03/1615, PI04/1436, PI08/1151, PI04/2018, PI04/1509, PI04/1112, PI04/1931, PI05/1079, PI05/1052, PI06/1213, PI06/0867, PI07/0314, PI09/02647, PS09/00090, PI09/02311, MS11/0178, PI13/1944, PI13/2032, PI14/00891, PI16/1288, and PI17/00663). Miguel Servet-FEDER: MSII16/ 00051, CP14/00108 & PI16/00261 (Co-funded by European Regional Development Fund “A way to make Europe”), FEDER funds, MS13/00054. Generalitat de Catalunya-CIRIT 1999SGR 00241, JCI2011–09771–MICINN, Generalitat Valenciana (Conselleria de Sanitat048/2010 and 060/…
Play assessment for group settings: A pilot study to construct an assessment tool
2006
The Play Assessment for Group Setting (PAGS) was constructed to measure children's play performance. The study was undertaken with 93 children aged from 2 to 8 years to examine whether the items of the PAGS construct a unidimensional scale that can be used to measure children's play ability. The internal scale validity and the person response validity of the PAGS were investigated by examining the goodness-of-fit of the play items and children's play performance to the many-faceted Rasch model for the PAGS. In total, 46 of the 51 play items demonstrated acceptable goodness-of-fit. Of the 93 children, 90.3% demonstrated acceptable goodness-of-fit on the scale of play items. Overall, the resu…
Task avoidance, number skills and parental learning difficulties as predictors of poor response to instruction.
2011
Altogether 1,285 Finnish children were followed up from the end of kindergarten through Grade 1. All were nonreaders at school entrance. The aim was to delineate predictors of resistance to treatment that are evidenced as little or no reading progress during Grade 1. On the basis of reading achievement in Grade 1 spring, four subgroups were formed. These were fast, average, and slow reading acquisition and slow progress in both reading and math. Kindergarten spring scores in phonological awareness, letter knowledge, rapid naming, and number skills differentiated well among the groups, the latter two being more robust predictors. Task avoidance added to the prediction over and above cogniti…
Learning Disabilities Elevate Children’s Risk for Behavioral-Emotional Problems : Differences Between LD Types, Genders, and Contexts
2021
Our purpose was to study the frequency of behavioral-emotional problems among children identified with a learning disability (LD). The data were obtained for 579 Finnish children (8–15 years) with reading disability (RD-only), math disability (MD-only), or both (RDMD) assessed at a specialized clinic between 1985 and 2017. We analyzed percentages of children with behavioral-emotional symptoms reaching clinical range (i.e., z score ≥1.5 SDs) and the effects of the LD type, gender, and context (home vs. school) on them. Furthermore, we analyzed the effect of the severity of LD and gender on the amount of behavioral-emotional symptoms reported by teachers and parents. Alarmingly high percenta…
The habilitation nursing of children with developmental disabilities—Beyond traditional nursing practices and principles?
2014
Research-based descriptions of the contents of the habilitation nursing of children with developmental disabilities are lacking. The objective of this qualitative study was to describe the habilitation nursing of children with developmental disabilities in a Finnish children’s neurological ward. In addition, the purpose was to outline the principles that directed the nursing functions (which consisted of various nursing interventions). The data collection included observation, a retrospective think-aloud method with video-taped nursing situations, the nursing records, and an open-ended questionnaire. The data were analysed with a qualitative content analysis of the manifest and latent conte…
Physical Activity and Physical Competence in Overweight and Obese Children: An Intervention Study
2020
With the current obesity epidemic and the decline of fitness among school-aged children, the importance of obesity interventions to promote physical activity and healthy habits has become indisputable. The purpose of this study was to assess the efficacy of a school-based multicomponent intervention in increasing physical activity (PA) levels, actual physical abilities, and perceived physical abilities in clinical and nonclinical samples of overweight/obese boys and girls aged 10–12 years. The clinical intervention group (n = 35) participated in a 7-month after-school program in addition to curricular physical education lessons, while the nonclinical control group (n = 29) received usual cu…
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
2014
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome
2003
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disa…
Volume of Neonatal Care and Survival without Disability at 2 Years in Very Preterm Infants: Results of a French National Cohort Study
2019
International audience; Objectives To investigate the relation between neonatal intensive care unit (NICU) volume and survival, and neuromotor and sensory disabilities at 2 years in very preterm infants. Study design The EPIPAGE-2 (Etude Epidémiologique sur les Petits Âges Gestationnels-2) national prospective population-based cohort study was used to include 2447 babies born alive in 66 level III hospitals between 24 and 30 completed weeks of gestation in 2011. The outcome was survival without disabilities (levels 2-5 of the Gross Motor Function Classification System for cerebral palsy with or without unilateral or bilateral blindness or deafness). Units were grouped in quartiles according…