Mental Retardation
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  • ||||||||||  Thalomid (thalidomide) / Celgene, Fujimoto Pharma
    Journal:  Cereblon maintains synaptic and cognitive function by regulating BK channel. (Pubmed Central) -  Oct 9, 2019   
    These results strongly suggest that increased BK channel activity is the pathological mechanism of intellectual disability in CRBN mutations.SIGNIFICANCE STATEMENTCereblon (CRBN), a well known target of the immunomodulatory drug thalidomide, was originally identified as a gene that causes human intellectual disability when mutated...Here we found thatKO animals showed cognitive deficits caused by enhanced BK channel activity and reduced presynaptic glutamate release. Our findings suggest a physiological pathomechanism of the intellectual disability-related gene, and will contribute to the development of therapeutic strategies for-related intellectual disability.
  • ||||||||||  Journal:  A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders. (Pubmed Central) -  Oct 9, 2019   
    The epidemiology of hip fractures is characterized by a high burden of disease, local differences, temporal trends, well-defined high-risk populations and many established risk factors. Our study provides evidence that a direct regulatory link exists between miR-137 and SHANK2 and supports the finding that miR-137 signaling might be altered in schizophrenia.
  • ||||||||||  Clinical, Journal:  Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation. (Pubmed Central) -  Oct 8, 2019   
    All patients are consanguineous and suffer from developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease. This cohort differs from previous cohorts because of the absence of organomegaly and skeletal abnormalities.
  • ||||||||||  Journal:  Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study. (Pubmed Central) -  Oct 8, 2019   
    P1/2
    These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child's repertoire.
  • ||||||||||  Journal:  The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. (Pubmed Central) -  Oct 8, 2019   
    Silencing the catalytic site of the CAMK2G p.Arg292Pro protein reversed the pathogenic effect of the p.Arg292Pro mutation on neuronal maturation, without rescuing its nuclear targeting. Taken together, our results reveal an indispensable function of CAMK2G in neurodevelopment and indicate that the CAMK2G p.Arg292Pro protein acts as a pathogenic gain-of-function mutation, through constitutive activity towards cytosolic targets, rather than impaired targeting to the nucleus.
  • ||||||||||  fluoxetine / Generic mfg.
    Trial completion date, Trial primary completion date:  SMART-DAPPER: Leveraging the Depression And Primary-care Partnership for Effectiveness-implementation Research Project (clinicaltrials.gov) -  Oct 6, 2019   
    P=N/A,  N=2710, Not yet recruiting, 
    Considering the association between idiopathic-RBD and synucleinopathy, it remains unclear whether RBD (and potentially TASD) associated with PTSD or TBI+PTSD similarly increases risk for long-term neurologic sequelae. Trial completion date: Jun 2023 --> Jun 2024 | Trial primary completion date: Jan 2023 --> Jan 2024
  • ||||||||||  Clinical, Journal:  High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders. (Pubmed Central) -  Oct 4, 2019   
    Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs-including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1-providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.
  • ||||||||||  Journal:  The autism spectrum phenotype in ADNP syndrome. (Pubmed Central) -  Oct 4, 2019   
    Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.
  • ||||||||||  Clinical, Journal:  Neurodevelopmental and emotional-behavioral outcomes in late-preterm infants: an observational descriptive case study. (Pubmed Central) -  Oct 4, 2019   
    This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment. Our results support the importance of a long-term surveillance of late preterm and the great need for more longitudinal large population studies in order to collect data on the neurodevelopmental outcomes of this population.
  • ||||||||||  Review, Journal:  How to Manage Impacted Third Molars: Germectomy or Delayed Removal? A Systematic Literature Review. (Pubmed Central) -  Oct 4, 2019   
    As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD. Given the best evidence-based information regarding patients' medical condition, we highlight the need to provide an ethical-based comprehensive approach in the diagnostic workflow and the assessment of treatment outcome.
  • ||||||||||  Enrollment open:  Targeting Adolescent Depressive Symptoms Via Brief, Web-Based Interventions (clinicaltrials.gov) -  Oct 3, 2019   
    P=N/A,  N=501, Recruiting, 
    LCSH less than 2.5-10 Mbp are usually ignored in molecular karyotyping (SNP array) studies and, therefore, an important epigenetic cause of intellectual disability, autism or epilepsy with high probability remains without attention. Not yet recruiting --> Recruiting
  • ||||||||||  NN1213 / Novo Nordisk
    Trial completion date, Trial primary completion date:  IDDAdol: Weight Management for Adolescents With IDD (clinicaltrials.gov) -  Oct 3, 2019   
    P=N/A,  N=123, Recruiting, 
    Thus, this scale can be regarded as a useful tool for evaluating the level of self-esteem of individuals with ID. Trial completion date: Nov 2021 --> Nov 2020 | Trial primary completion date: May 2021 --> May 2020
  • ||||||||||  Review, Journal:  Clinical, Biochemical, and Genetic Aspects of Sjögren-Larsson Syndrome. (Pubmed Central) -  Oct 2, 2019   
    This review summarizes the clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies. Additionally, the differential diagnoses of SLS are briefly illustrated, covering cerebral palsy and other genetic or neurocutaneous syndromes mimicking the syndrome.
  • ||||||||||  Review, Journal:  PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases. (Pubmed Central) -  Oct 2, 2019   
    The second hit on PQBP1 by such neurodegenerative disease proteins is supposed to similarly impair synapse functions in neuron and proliferation of stem cells. The alteration of gene expression profile and consequently induced phenotypes of neuron and stem cells via secondary impairment of the intrinsically disordered/denatured protein PQBP1, which are similar to developmental disorders by PQBP1 gene mutations, could be a part of the main pathologies shared by multiple neurodegenerative diseases.
  • ||||||||||  Clinical, Journal:  mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. (Pubmed Central) -  Oct 2, 2019   
    Mutations in different genes in this pathway result in known rare diseases implicated in hemi/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in TSC1 and TSC2, or the PIK3CA related overgrowth spectrum (PROS). We here present 4 new cases of SKS, review all clinical and molecular aspects of this disorder, as well as some characteristics of the patients with only brain mTOR somatic mutations.
  • ||||||||||  Journal:  Gene networks associated with non-syndromic intellectual disability. (Pubmed Central) -  Oct 2, 2019   
    In addition, we report enrichment of dopaminergic and glutamatergic pathways for those candidate NS-ID genes that are common to S-ID and/or neurological and neuropsychiatric disorders that exhibit intellectual disability. Collectively, this study provides an overview and analysis of gene networks associated with NS-ID and suggests modulation of neurotransmission, particularly dopaminergic and glutamatergic systems as key contributors to synaptic dysfunction in NS-ID.
  • ||||||||||  Journal:  No. 240-Cytomegalovirus Infection in Pregnancy. (Pubmed Central) -  Oct 2, 2019   
    Collectively, this study provides an overview and analysis of gene networks associated with NS-ID and suggests modulation of neurotransmission, particularly dopaminergic and glutamatergic systems as key contributors to synaptic dysfunction in NS-ID. The quality of evidence reported in this document has been assessed using the evaluation of evidence criteria in the Report of the Canadian Task Force on Preventive Health Care (Table 1).
  • ||||||||||  Clinical, Journal:  The safety of paediatric dentistry procedures under general anaesthesia. A five-year experience of a tertiary care center. (Pubmed Central) -  Oct 2, 2019   
    The quality of evidence reported in this document has been assessed using the evaluation of evidence criteria in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Although the administration of general anaesthesia in infants and children can be regarded as a safe procedure, clinically significant adverse reactions can occur, especially in patients with an existing medical condition.