Search results for "INTELLECTUAL DISABILITY"
showing 10 items of 303 documents
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
2015
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specificall…
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
2019
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…
Cross validation of the 1-mile walking test for men with mental retardation.
1997
The purpose of this study was to cross validate the equation developed by Rintala et al. (1992) to estimate the cardiorespiratory efficiency of men with mental retardation (MR). Subjects were 19 healthy men (27 ± 8 yr) with MR (IQ = 58 ± 12). Following familiarization, a graded maximal treadmill test and two 1-mile walk tests (Rockport Fitness Walking Test, RFWT) were administered. The peak VO 2 value was the criterion measure used to cross validate the equation. The equation was: Peak VO 2 (ml.kg -1 .min -1 ) = 101.92 - 2.356 (MILE) -0.420 (WEIGHT). The mean differences were 2.04 (MILE 1 )(P = 0.02) and 2.43 (MILE 2 )(P = 0.004) ml.kg -1 .min -1 . A significant positive correlation was fou…
The structure and correlates of self-injurious behavior in an institutional setting
2001
The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…
2013
Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…
An integrative model of the subjective well-being of staff working in intellectual disability services
2019
Abstract Background The detrimental effects of caregiving have been well documented. In order to compensate for the disadvantages of caring, research has also tried to identify factors associated to caregivers’ subjective well-being (SWB). Aims We aim at presenting an integrative model of SWB. Methods and procedures Sample consisted of 228 staff working with people with intellectual disabilities. Measures employed included three different components of self-care (social, internal and physical), mental and physical health, conscientiousness, hope, and life satisfaction. The model aimed to explain SWB, measured by life satisfaction, by several variables (self-care, mental and physical health,…
Respite care as a community care service: Factors associated with the effects on family carers of adults with intellectual disability in Taiwan
2008
This study examines the effects and associated factors of respite care, which was legislated as a community service for adults with an intellectual disability (ID) in Taiwan in 1997.A total of 116 family carers who live with an adult with ID and have utilised the respite care program were surveyed using standardised measures.The results suggest that the most notable effects of respite care include improvement in the carers' social support and life satisfaction, and relief of psychological stress and overall burden of care. The factors associated with these effects include the way the participants have used the respite care and the users' individual characteristics.How families used the resp…
Prevalence and incidence of workplace bullying among Spanish employees working with people with intellectual disability
2012
Abstract Background Although workplace bullying is a severe psychosocial risk with a high prevalence, there is a lack of studies addressing its incidence, particularly among staff working with people with intellectual disability. Objectives We examined the prevalence and incidence of workplace bullying in a sample of Spanish employees working with people with intellectual disability. The socio-demographic characteristics of victims and non-victims of workplace bullying were also analyzed. Methods Multicenter study with two phases (T1 and T2) carried out in Valencia (Spain). The sample consisted of 696 employees from 66 centers in T1. One year later (T2), 422 employees from 61 centers agreed…