Mental Retardation
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  • ||||||||||  Clinical, Journal:  Health problems of people with intellectual disabilities in Dutch out-of-hours primary care. (Pubmed Central) -  May 29, 2019   
    It is feasible to evaluate the Toolkit and the RCB in a cluster-randomized study and that such a study could add to our knowledge about possible intervention strategies regarding reproduction and parenting among students with intellectual disability. Given the high rates of epilepsy and medication-related concerns of people with intellectual disabilities, this study suggests that these issues require special attention to improve the accessibility and quality of out-of-hours primary care.
  • ||||||||||  Clinical, Journal, HEOR:  A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability. (Pubmed Central) -  May 29, 2019   
    Given the high rates of epilepsy and medication-related concerns of people with intellectual disabilities, this study suggests that these issues require special attention to improve the accessibility and quality of out-of-hours primary care. Improving emotional and psychological cares, as well as social and practical measures comprising income support and access to appropriate health care, were inferred to be the mothers' priorities to improve their families' quality of life.
  • ||||||||||  Journal:  Living with support: Experiences of people with mild intellectual disability. (Pubmed Central) -  May 29, 2019   
    Relationships with staff were often one of the closest and most significant social relationships participants had. As living in the community had not necessarily led to meaningful inclusion for participants, the findings point at the important role of staff in supporting and facilitating friendships and close relationships of people with intellectual disability.
  • ||||||||||  Clinical, Journal:  Efficacy of a socioemotional learning programme in a sample of children with intellectual disability. (Pubmed Central) -  May 29, 2019   
    The programme was implemented in the experimental group, based on simply illustrated stories alluding the basic emotions. The findings suggest that the programme is effective in the development of socioemotional competences (SEC) in subjects with intellectual disabilities, evidencing the positive effects that the intervention programme had with the experimental group.
  • ||||||||||  Clinical, Journal:  The Effects of a Peer-Delivered Social Skills Intervention for Adults with Comorbid Down Syndrome and Autism Spectrum Disorder. (Pubmed Central) -  May 29, 2019   
    Peer-mediators with DS and intellectual disability (ID) delivered simultaneous prompting sessions reliably (i.e., > 80% reliability) to teach social skills to adults with ID and a dual-diagnoses of DS-ASD with small (Tau Weighted  = .55, 90% CI [.29, .82]) to medium effects (Tau Weighted  = .75, 90% CI [.44, 1]). Statistical and visual analysis findings suggest a promising social skills intervention for individuals with DS-ASD as well as reliable delivery of simultaneous prompting procedures by individuals with DS.
  • ||||||||||  Journal:  A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. (Pubmed Central) -  May 29, 2019   
    Over the years other phenotypes including Charcot Marie Tooth type 2 and hereditary mental retardation with cortical neural migration defects have also been reported to be caused by DYNC1H1 mutations. This report aims to increase our awareness of SMALED and various other phenotypes associated with mutations in this gene.
  • ||||||||||  Journal:  Apgar score and risk of autism. (Pubmed Central) -  May 29, 2019   
    This study suggests that low Apgar score is associated with higher risk of ASD, and in particular AD. We did not observe any major modifying effects of gestational age and sex, although there seems to be substantial confounding by gestational age and birth weight on the observed association.
  • ||||||||||  Journal:  The History of Noonan Syndrome. (Pubmed Central) -  May 27, 2019   
    Identification of the first genetic cause of Noonan Syndrome, mutation of ptpn11 was reported in 2001. Multiple subsequent genes have been identified as causes of Noonan Syndrome and the related Rasopathies.
  • ||||||||||  Journal:  Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. (Pubmed Central) -  May 26, 2019   
    In particular, we found that the DNMs of DNMT3A were shared among EE, autism spectrum disorder (ASD), and intellectual disability (ID) and mainly occurred in the functional domain of DNMT3A. Together, our findings support an association between DNMT3A mutations and EE susceptibility and suggest a shared molecular pathophysiology among EE and other neuropsychiatric disorders.
  • ||||||||||  Journal:  Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. (Pubmed Central) -  May 26, 2019   
    Being alert to the possibility and need for management of a child's sleep or emotional disturbance is important as is awareness of the additional likely parental burden as the child moves through adolescence into early adulthood and their need for additional support at that time. However, the findings also highlight the complex nature of parental well-being over time in parents of children with a severe neurological disorder and how they may be affected by a range of inter-related family and child factors.
  • ||||||||||  Journal:  Dental Treatment Under General Anesthesia in a Day Care Surgery Setting. (Pubmed Central) -  May 25, 2019   
    Patients with physical and/or intellectual disabilities have higher caries activity and increased dental treatment needs compared to the general population. Dental treatment under GA in day care service is a safe and effective way of providing dental care for noncompliant patients.
  • ||||||||||  Clinical, Retrospective data, Journal:  FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing. (Pubmed Central) -  May 24, 2019   
    This risk is similar to the highest ethnic-based fetal risks for cystic fibrosis and spinal muscular atrophy, for which population-wide screening is currently recommended. This study adds to the literature and supports further evaluation into specific population-wide screening recommendations for FXS.
  • ||||||||||  Journal:  A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. (Pubmed Central) -  May 24, 2019   
    The mutant transcript comprised >96% of ITPR1 mRNA in the affected siblings, indicating that a small amount of wild-type transcript was still present. The novel autosomal recessive mutation here reported is the first variant affecting the ITPR1 N-terminal suppressor domain, thus extending the spectrum of the pathogenetic variants in GLSP and the range of the associated clinical manifestations.
  • ||||||||||  Clinical, Journal:  Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation. (Pubmed Central) -  May 24, 2019   
    To date, no patients with DeSanto-Shinawi syndrome have been reported to have developed hematologic abnormalities, except for one of the three patients reported herein who developed leukopenia and thrombocytopenia at the age of 19 years. Larger data sets are required to determine hematologic prognosis of patients with constitutional WAC variants.
  • ||||||||||  Clinical, Journal:  Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature. (Pubmed Central) -  May 24, 2019   
    This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together.
  • ||||||||||  Journal:  The phenotypic spectrum of Xia-Gibbs syndrome. (Pubmed Central) -  May 24, 2019   
    Data from a modified autism screening tool revealed that XGS shares significant overlap with autism spectrum disorders. These details of the phenotypic heterogeneity of XGS implicate specific genotype/phenotype correlations and suggest potential clinical management guidelines.
  • ||||||||||  Journal:  X-linked intellectual disability update 2017. (Pubmed Central) -  May 24, 2019   
    In the 10 years since the last update, the number of genes associated with XLID has increased by 96% from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high-resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function.
  • ||||||||||  Journal:  Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. (Pubmed Central) -  May 24, 2019   
    Proposed novel genotype-phenotype correlations based on new literature information on the region include the role of PSMD12 and BPTF, the genes recently associated with syndromic neurodevelopmental disorders, and a possible role of the complex topologically associated domain structure of the region, which may explain some of the phenotypic discrepancies observed between patients with similar but not identical deletions. Nevertheless, although different diagnoses including the Dubowitz, Nijmegen breakage (MIM 251260), Silver-Russell (MIM 180860), or Myhre (MIM 139210) syndromes were originally considered in the 17q24.2-q24.3 deletion patients, they clearly belong to one diagnostic entity defined by their deletions and characterized especially by developmental delay, specific facial dysmorphism, abnormalities of extremities and other phenotypes, and possibly also short telomere length.
  • ||||||||||  Journal:  Attention Deficit Hyperactivity Disorder in people with Intellectual Disability. (Pubmed Central) -  May 24, 2019   
    Both cases highlight how the diagnosis of ADHD can be missed and the behaviours attributed to ID and autism, which could lead to using ineffective treatment strategies. The case reports illustrate the importance of the diagnosis and treatment of ADHD in people with ID and how it can make a difference to their clinical presentation and quality of life.
  • ||||||||||  Clinical, Journal:  Widespread RNA editing dysregulation in brains from autistic individuals. (Pubmed Central) -  May 24, 2019   
    Furthermore, we observed convergent patterns of RNA-editing alterations in ASD and Fragile X syndrome, establishing this as a molecular link between these related diseases. Our findings, which are corroborated across multiple data sets, including dup15q (genomic duplication of 15q11.2-13.1) cases associated with intellectual disability, highlight RNA-editing dysregulation in ASD and reveal new mechanisms underlying this disorder.
  • ||||||||||  Journal:  A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom. (Pubmed Central) -  May 24, 2019   
    Our results indicate that the homozygotic G insertion in MPLKIP results in the TTDN1 with hypergonadotropic hypogonadism, while heterozygous carriers of the same mutation have no symptoms and healthy. These results provide novel insights into the association of mutations in MPLKIP and TTDN1 with hypergonadotropic hypogonadism.