Mental Retardation
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  • ||||||||||  Clinical, Journal:  Salivary α-amylase as a marker of stress reduction in individuals with intellectual disability and autism in response to occupational and music therapy. (Pubmed Central) -  Oct 31, 2019   
    The results suggest both differences and similarities in self-reported wellbeing between boys and girls with and without ID/DD and potentially also in how they perceived the concepts measured. Not only do these results confirm the stress-reducing nature of two types of multisensory therapy, but they support the use of sAA as a potential tool for evaluating stress levels in individuals with intellectual disability and autism spectrum disorder, providing an important physiological lens that may guide strategies in clinical and non-clinical care for individuals with disabilities.
  • ||||||||||  Journal:  A systematic quality review of high-tech AAC interventions as an evidence-based practice. (Pubmed Central) -  Oct 31, 2019   
    Additionally, information on the following extended methodological standards is reported on all included studies: participant description, description of setting and materials, interventionist description, baseline and intervention description, maintenance, generalization, procedural integrity, and social validity. The results from 18 multiple-baseline or multiple-probe experiments across 17 studies indicate that using high-tech AAC to teach social-communication skills to individuals with autism spectrum disorder or intellectual disabilities and complex communication needs can be considered an evidence-based practice, although the review of comparison (i.e., alternating treatment) design studies did not indicate that high-tech AAC is significantly better than low-tech AAC.
  • ||||||||||  NN1213 / Novo Nordisk
    Enrollment closed:  IDDAdol: Weight Management for Adolescents With IDD (clinicaltrials.gov) -  Oct 31, 2019   
    P=N/A,  N=110, Active, not recruiting, 
    The results from 18 multiple-baseline or multiple-probe experiments across 17 studies indicate that using high-tech AAC to teach social-communication skills to individuals with autism spectrum disorder or intellectual disabilities and complex communication needs can be considered an evidence-based practice, although the review of comparison (i.e., alternating treatment) design studies did not indicate that high-tech AAC is significantly better than low-tech AAC. Recruiting --> Active, not recruiting
  • ||||||||||  Clinical, Review, Journal:  The effects of literacy interventions on single-word reading for individuals who use aided AAC: a systematic review. (Pubmed Central) -  Oct 31, 2019   
    Despite the large effects, the findings must be viewed with caution due to limitations in the number of studies and participants and limitations in the reporting of detailed participant and intervention characteristics across the studies. In order to determine which interventions are most effective for which individuals, future research directions are discussed, including the need for greater specificity in describing participant and intervention characteristics, investigations into how to best measure intervention outcomes without requiring spoken responses, and investigations into longer-term interventions targeting a wider range of reading skills.
  • ||||||||||  Clinical, Journal:  Acceptable care or exceptional care; people with intellectual disabilities accessing general hospital services. (Pubmed Central) -  Oct 31, 2019   
    In order to determine which interventions are most effective for which individuals, future research directions are discussed, including the need for greater specificity in describing participant and intervention characteristics, investigations into how to best measure intervention outcomes without requiring spoken responses, and investigations into longer-term interventions targeting a wider range of reading skills. No abstract available
  • ||||||||||  Enrollment change, Trial completion date, Trial primary completion date:  Rehabilitation Coordinators in Specialist Psychiatry (clinicaltrials.gov) -  Oct 31, 2019   
    P=N/A,  N=200, Recruiting, 
    Trial completion date: Jan 2020 --> Dec 2020 | Trial primary completion date: Jan 2020 --> Jun 2020 N=400 --> 200 | Trial completion date: Dec 2019 --> Dec 2021 | Trial primary completion date: Oct 2019 --> Dec 2020
  • ||||||||||  Clinical, Journal:  Schaaf-Yang syndrome overview: Report of 78 individuals. (Pubmed Central) -  Oct 31, 2019   
    Our results indicate that the variation in phenotypic severity may depend on the specific location of the truncating mutation, suggestive of a genotype-phenotype association. This evidence may be useful in both prenatal and pediatric genetic counseling.
  • ||||||||||  Journal:  Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. (Pubmed Central) -  Oct 31, 2019   
    We present a detailed discussion of the clinical manifestations of these two unique SPTAN1 variants and provide evidence that both variants result in reduced mRNA expression despite different locations within the gene and clinical phenotypes. These findings expand the motor, cognitive, and behavioral spectrum of the SPTAN1-associated phenotype and invite speculation about underlying pathophysiologies.
  • ||||||||||  Clinical, Journal:  Patients with SATB2-associated syndrome exhibiting multiple odontomas. (Pubmed Central) -  Oct 31, 2019   
    Multiple odontomas were evident in the patients in this report; however, this has not been recognized previously as a SAS-associated phenotype. We propose that multiple odontomas be considered as an occasional manifestation of SAS.
  • ||||||||||  Journal:  Links between mental disorders and the use of disability allowances and services in France (Pubmed Central) -  Oct 30, 2019   
    A third group, whose recourse to the field of the disability system is less high without being negligible includes people with different medical and social profiles, having signs of social difficulties and physical troubles which may precede or follow their mental problems instead of belonging to a same complex pattern. This self-reported data survey inevitably comprises approximate data as regards to diagnoses and impairments, but no other survey brings such diversified information and it usefully highlights that people with mental disorders should not be considered has having only mental disorders as long as they use the French disability system.
  • ||||||||||  Review, Journal:  Unravelling molecular pathways shared by Kabuki and Kabuki-like syndromes. (Pubmed Central) -  Oct 30, 2019   
    An enrichment analysis aimed at identifying functional Gene Ontology classes shared by the two known KS causative genes and by new candidate genes currently associated with KS-like phenotypes primarily converges upon abnormal chromatin remodeling and transcriptional dysregulation as pivotal to the pathophysiology of KS phenotypic hallmarks. The identification of mutations in genes belonging to the same functional pathways of KMT2D and KDM6A can help design molecular screenings targeted to KS-like phenotypes.
  • ||||||||||  Journal:  Neurodevelopmental outcome in 22q11.2 deletion syndrome and management. (Pubmed Central) -  Oct 29, 2019   
    Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11.2 DS is of significant clinical relevance and might allow for early detection and intervention. Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.
  • ||||||||||  sirolimus / generics
    Review, Journal:  Current concepts in the neuropathogenesis of mucolipidosis type IV. (Pubmed Central) -  Oct 29, 2019   
    This review explores our current understanding of the mucolipin-1 protein in relation to neuropathogenesis in MLIV and describes recent findings implicating mucolipin-1's important role in mechanistic target of rapamycin and TFEB (transcription factor EB) signaling feedback loops as well as in the function of the greater endosomal/lysosomal system...In addition to addressing the vital role of mucolipin-1 in the brain, we also report new data on the question of whether haploinsufficiency as would be anticipated in MCOLN1 heterozygotes is associated with any evidence of neuron dysfunction or disease. Greater insights into the role of mucolipin-1 in the nervous system can be expected to shed light not only on MLIV disease but also on numerous processes governing normal brain function.
  • ||||||||||  Journal:  GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. (Pubmed Central) -  Oct 29, 2019   
    By compiling clinical information of these individuals and previously described GPT2 patients a recognizable neurodevelopmental and potentially neurodegenerative phenotype can be assigned consisting of intellectual disability, pyramidal tract affection with spastic paraplegia, microcephaly and frequently epilepsy. Due to the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia.
  • ||||||||||  Journal:  Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. (Pubmed Central) -  Oct 29, 2019   
    We propose that defective function of HNRNPH2 and HNRNPH1 nuclear localization signal has similar clinical consequences. An important difference between the two diseases is that the HNRNPH1 associated syndrome may occur in boys (as in the case of our proband) which is well explained by the autosomal (chr.5q35.3) rather than X-linked localization of the HNRNPH2 gene.
  • ||||||||||  Journal:  Postsynaptic FMRP regulates synaptogenesis in vivo in the developing cochlear nucleus. (Pubmed Central) -  Oct 29, 2019   
    Using temporally and spatially controlled genetic manipulation, this study provides the first in vivo report that autonomous FMRP regulates multiple stages of dendritic development, and that selective reduction of postsynaptic FMRP leads to abnormal development of excitatory presynaptic terminals and compromised neurotransmission. These observations demonstrate secondary influence of developmentally transient deficits in neuronal morphology and connectivity to the development of long-lasting synaptic pathology in FXS.
  • ||||||||||  Journal:  Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. (Pubmed Central) -  Oct 29, 2019   
    Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. Our findings thereby support the recent observation that, like neurons, podocytes of the renal glomerulus are particularly vulnerable to cellular defects resulting from altered tRNA modifications.
  • ||||||||||  Clinical, Review, Journal:  Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome. (Pubmed Central) -  Oct 29, 2019   
    The potential usefulness of 22q11DS as a genetic model to study the early phases of schizophrenia as well as the phenomenon of neuropsychiatric pleiotropy observed in many CNV's will be delineated. From a clinical perspective, the importance of regular neuropsychiatric evaluations with attention to symptoms not always captured in diagnostic categories and of maintaining equilibrium between individual difficulties and competencies and environmental demands will be discussed.
  • ||||||||||  Clinical, Journal, Heterogeneity:  Heterogeneity of clinical characteristics of FMR1-related disorders (Pubmed Central) -  Oct 29, 2019   
    The last section provides information about screening diagnostic instruments that help to identify the risk of fragile X syndrome. It also presents the key questions to be asked to family members in order to identify the risk of the permutation.
  • ||||||||||  Journal:  Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. (Pubmed Central) -  Oct 28, 2019   
    Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.
  • ||||||||||  Journal:  AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. (Pubmed Central) -  Oct 28, 2019   
    When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
  • ||||||||||  Preclinical, Journal:  Neuronal Cell-Intrinsic Defects in Mouse Models of Down Syndrome. (Pubmed Central) -  Oct 28, 2019   
    This work suggests that the characteristic morphological defects of DS neurons are likely to be caused by the possible combination of cell-intrinsic defects together with cell-extrinsic cues. Additionally, our data support the possibility of using the more sustainable line Ts2Cje as a standard model for the study of DS.
  • ||||||||||  Clinical, Journal:  Maintaining Safety and Planning for the Future. (Pubmed Central) -  Oct 28, 2019   
    The DBP and child psychologist have encouraged Kevin's guardian to explore long-term residential care options with the state agency that provides support for individuals with intellectual disabilities and with Kevin's insurance provider, but the guardian is very reluctant to do this. She fears that Kevin will be removed from her care or placed in a "home" where someone will "do bad things to him."What else would you recommend or actions would you take to support Kevin's guardian in ensuring Kevin's safety and planning for his future care?
  • ||||||||||  Review, Journal:  Diagnosis and genetics of alacrima. (Pubmed Central) -  Oct 27, 2019   
    Some manifest only the congenital absence of tears, while others affect multiple organ systems and may involve severe developmental delay, intellectual disability, and potentially life-threatening autonomic dysregulation. To aid in the diagnosis for patients manifesting alacrima, we review the major causes and the various genetic disorders associated with alacrima and provide a differential template for diagnosis.