Search results for "INTELLECTUAL DISABILITY"

Working memory and everyday cognition in adults with Down's syndrome.

2001

A number of previous studies have suggested that young people with Down's syndrome (DS) have a specific deficit of the phonological loop component of the working memory. However, there have also been studies which have proposed a specific deficit of the central executive component of working memory and suggested similarities of working memory functioning with patients with Alzheimer's disease. Fifteen middle-aged people with DS were matched for their individual scores of non-verbal intelligence to 15 individuals with mixed aetiology of intellectual disability. A versatile range of tasks was used in order to evaluate the functioning of working memory components. In addition, several everyday…

Incidence of savant syndrome in Finland

2000

The general incidence of Savant Syndrome was assessed in Finland. First, a survey was made of all 583 facilities which served people with mental retardation. Second, letters asking for information regarding people with Savant Syndrome were published in two key Finnish journals of the field. We received reports of 45 cases of Savant Syndrome. This makes an incidence rate of 1.4 per 1,000 people with mental retardation. The most common form of exceptional skills was calendar calculation, followed by feats of memory.

Physical fitness profile of elite athletes with intellectual disability

2006

The aim of this study was to investigate the physical fitness profile of high-performance athletes with intellectual disability (ID) in comparison with able-bodied individuals. Methods: Participants were 231 male and 82 female athletes. All evaluations were done using the EUROFIT physical fitness test. Results: In comparison with population data, both male and female athletes with ID score better for flexibility and upper body muscle endurance, but have similar or lower values for running speed, speed of limb movement, and strength measures. Compared with agematched physical education students, male athletes with ID score better for running speed and flexibility, and worse for strength. Fem…

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

2010

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery

2013

Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations

2013

Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…

X-inactivation pattern in three cases of X/autosome translocation.

1978

We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Análisis de una intervención educativa para el desarrollo de la autodeterminación en una alumna con síndrome de Down

2021

Resumen Antecedentes: uno de los mayores problemas a los que se enfrentan los jóvenes con discapacidad intelectual es su bajo nivel de autonomía. Objetivo: el objetivo de este trabajo es analizar la eficacia de una intervención basada en el uso de las tecnologías de la información y comunicación (TIC) para alcanzar mejoras en autodeterminación en una estudiante con síndrome de Down. Método: la intervención está basada en el diseño y aplicación de una página web diseñada teniendo en cuenta las necesidades específicas de la participante, su nivel de competencias, y sus intereses. Esta herramienta TIC permite a la estudiante trabajar de manera autónoma tres áreas de conocimiento distintas y ot…

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

2021

Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…