Search results for "Disabilities"
showing 10 items of 230 documents
Substance-use disorder in high-functioning autism: clinical and neurocognitive insights from two case reports.
2014
Background Low prevalence of substance-use disorder has been reported in adults with autism. However, on a superficial level, adults with high-functioning autism (HFA) display a ‘normal’ façade when they drink alcohol, which may explain why their alcohol dependency is not better diagnosed. Case presentation Here, we report two cases of HFA adults who use alcohol and psychostimulants to cope with their anxiety and improve their cognitive abilities and social skills. We analyze how neurocognitive traits associated with HFA may be potential triggers for substance-use disorder. Conclusion Better identification of autism and its cognitive impairments, which may be vulnerability traits for develo…
The Neuropsychological Profile of Infantile Duchenne Muscular Dystrophy
2011
It has been shown that children with Duchenne muscular dystrophy (DMD) exhibit specific cognitive deficits. However, the neuropsychological profile has not yet been fully characterized. In order to control for the contribution of motor impairments as a confounding variable that is usually present when assessing children with muscular pathologies, we compared children with DMD to a group of children with an autoimmune pathology that does not entail either brain or cognitive dysfunction but does imply motor impairment: juvenile rheumatoid arthritis (JRA). An extensive neuropsychological evaluation was administered, including intelligence, perception, language, memory and learning, attention, …
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…
2019
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on c…
2005
We report on a pure duplication of the proximal chromosome 2q in a 6.5-year-old boy with V-shaped midline cleft palate and bifid uvula, posteriorly located tongue, and micrognathia (Pierre Robin sequence), celiac disease, failure to thrive, and developmental delay. Cytogenetic and FISH analysis indicated a duplication of chromosome 2q13-q22. In general, pure proximal duplication or triplication of 2q is rare. The clinical features and chromosomal breakpoints of the 10 previously reported patients varied, and no common phenotype or proximal duplication/triplication 2q syndrome could be defined to date. However, based on four previous patients with different orofacial clefts and our case, a l…
Air Pollution During Pregnancy and Childhood Cognitive and Psychomotor Development: Six European Birth Cohorts
2014
Background: Accumulating evidence from laboratory animal and human studies suggests that air pollution exposure during pregnancy affects cognitive and psychomotor development in childhood. Methods: We analyzed data from 6 European population-based birth cohorts-GENERATI ON R (The Netherlands), DUISBURG (Germany), EDEN (France), GASPII (Italy), RHEA (Greece), and INMA (Spain)-that recruited mother-infant pairs from 1997 to 2008. Air pollution levels-nitrogen oxides (NO2, NOx) in all regions and particulate matter (PM) with diameters of <2.5, <10, and 2.5-10 mu m (PM2.5, PM10, and PMcoarse, respectively) and PM2.5 absorbance in a subgroup-at birth addresses were estimated by land-use regressi…
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
2011
Abstract We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6…
Underemployment among mothers of children with intellectual disabilities
2018
Background Mothers with lifelong care responsibilities might involuntarily be non-employed or work part-time, both of which are defined as “underemployment.” This study aimed to investigate who these underemployed mothers are and what are the factors associated with such employment hardship when having a child with intellectual disability (ID). Method An interview survey was conducted in 2011 in two local authorities of Taiwan on 876 working-age mothers with a child with intellectual disability; 514 of them were working part-time/non-employed and chosen as participants of this study. Results The mothers with a younger child with intellectual disability, a higher level of education, a lower …
Associations Between Childhood Learning Disabilities and Adult-Age Mental Health Problems, Lack of Education, and Unemployment.
2019
We studied the impact of diverse subtypes of learning disabilities (LD) on adult-age mental health, education, and employment by comparing the LD group ( n = 430) with a matched control group without a known history of LD ( n = 2,149). The clinical archived data were merged with lifelong register data on sickness allowances/disability pensions granted on the basis of psychiatric illnesses, reimbursements for psychoactive medication, having a degree after compulsory education, and having received unemployment allowances. Differences emerged between the LD and control groups in all outcomes, suggesting that a higher proportion of individuals with LD had mental health problems compared to the…
Language problems in children with learning disabilities: do they interfere with maternal communication?
2004
In this study, parent-child interaction in two carefully matched subgroups—school—age boys with learning disabilities (LD) who showed a discrepancy between their verbal IQ and performance IQ and had more extensive difficulties in higher-level language abilities (VIQ < PIQ, n = 8) and boys with LD who did not manifest a discrepancy between verbal IQ and performance IQ (VIQ = PIQ, n = 8), were investigated. The effects of the child's language problems on child task performance and on the quality of maternal communication were analyzed in a mother-child problem solving task. Children in the VIQ < PIQ group were found to be less successful on the task than children in the VIQ = PIQ group…
Mother-Child Teaching Strategies and Learning Disabilities
1994
The teaching strategies used by mothers of sons with learning disabilities (LD) (n = 30) and normally achieving sons (NLD) (n = 30) were examined. The children were matched for age (8- to 11-year-olds) and for parents' socioeconomic status. The behavior of mother-child pairs was videotaped in a teaching task that was constructed to resemble a homework assignment. The results showed that the mothers of children with LD used fewer high-level strategies, and their total time used in teaching was less than that of the mothers of NLD children. The mothers of children with LD exhibited more dominance and less emotionality and cooperation than did the mothers of NLD children; however, the mothers…