Search results for "Intellect"
showing 10 items of 642 documents
Explaining the parental stress of fathers and mothers caring for a child with intellectual disability: a Double ABCX Model.
2003
Background Twenty variables based on the Double ABCX Model of adaptation and selected on the basis of previous research were chosen to explain the parental stress of the mothers (n = 116) and fathers (n = 120) of children with an intellectual disability (age range = 1– 10 years). Methods Principal component analysis, rotated into varimax-criterion, was done separately for mothers and fathers. The solution containing eight factors was considered best for both groups. They accounted for more than 70% of the total variance of the original variables. These eight orthogonal components were then entered into a stepwise regression analysis that was done separately for mothers and fathers. Result…
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation …
2010
We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is t…
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 …
Cognitive dysfunction and depression in Fabry disease: a systematic review.
2013
Background Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood. Objectives To investigate whether there is reliable evidence for neuropsychological impairment in patients with Fabry disease and which cognitive domains are affected. To estimate the prevalence of and factors associated with depression in patients with Fabry disease. Method Qualitative systematic review of the literature of studies conducting neuropsychological assessment or measuring the prevalence of depression in adults with Fabry d…
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…