Mental Retardation
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  • ||||||||||  Biomarker, Journal:  The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse. (Pubmed Central) -  Jun 15, 2019   
    Significant effects on hippocampal and cerebral cortical expression of the presynaptic Slc17a7 gene encoding vesicular excitatory glutamate transporter 1 (VGLUT1) were observed at the RNA and immunohistochemical levels, explaining the DTI results. These findings tie for the first time a reduction in presynaptic glutamatergic synapses with the autism/Alzheimer's/schizophrenia-linked ADNP deficiency coupled with amelioration by NAP (CP201).
  • ||||||||||  Clinical, Journal:  Psychiatric disorders in children with 16p11.2 deletion and duplication. (Pubmed Central) -  Jun 15, 2019   
    However, no differences between deletion and duplications carriers in the prevalence of ASD were found. Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups.
  • ||||||||||  Review, Journal:  National Iodine Deficiency Disorders Control Programme: Current status & future strategy. (Pubmed Central) -  Jun 15, 2019   
    The partnership between government agencies, academic institutions, salt industry, development agencies and civil society has been key to achieve this success story. The sustainable elimination of iodine deficiency in India is within reach, what is required is accelerated and coordinated effort by all key stakeholder at national and State level.
  • ||||||||||  Preclinical, Journal:  Hyperexcitability of the local cortical circuit in mouse models of tuberous sclerosis complex. (Pubmed Central) -  Jun 15, 2019   
    These results indicate that removal of TSC1 from all neurons in a local cortical circuit results in hyperexcitability while connections between pyramidal neurons and interneurons expressing PV and SST are preserved in the layer 2/3 visual cortex. Our study suggests that another inhibitory cell type or a combination of multiple subtypes may be accountable for hyperexcitability in TSC.
  • ||||||||||  Journal:  Sexual orientation and mental health over the life course in a birth cohort. (Pubmed Central) -  Jun 14, 2019   
    We show that Tubg1 mice partially mimic the human phenotype and therefore represent a relevant model for further investigations of the physiopathology of cortical malformations. Over the life course, membership of a sexual minority group is clearly associated with mental health problems of depression, anxiety and suicidal ideation regardless of the age when same-sex attraction, behaviour, identity or fantasy is expressed.
  • ||||||||||  Review, Journal:  Structural and Functional Abnormalities in the Olfactory System of Fragile X Syndrome Models. (Pubmed Central) -  Jun 14, 2019   
    In this review article, we will discuss molecular, morphological and physiological aspects of the olfactory information processing in FXS models. We will highlight the decreased inhibitory/excitatory synaptic balance and the diminished synaptic plasticity found in this system resulting in behavioral alteration of individuals in the presence of odorant stimuli.
  • ||||||||||  Biomarker, Review, Journal:  Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome. (Pubmed Central) -  Jun 14, 2019   
    Therefore, these lncRNAs provide pharmaceutical targets and novel biomarkers. This review will: (1) describe the clinical manifestations and traditional pathogenesis of FXS and FXTAS/FXPOI; (2) summarize what is known about the role of lncRNAs in the pathogenesis of FXS and FXTAS/FXPOI; and (3) provide an outlook of potential effects and future directions of lncRNAs in FXS and FXTAS/FXPOI researches.
  • ||||||||||  Clinical, Journal:  Neuromuscular fatigue and recovery profiles in individuals with intellectual disability. (Pubmed Central) -  Jun 14, 2019   
    Moreover, individuals with ID demonstrated a persistent central fatigue but faster recovery from peripheral fatigue. These differences in neuromuscular fatigue profiles and recovery kinetics should be acknowledged when prescribing training programs for individuals with ID.
  • ||||||||||  Trial completion date, Trial primary completion date:  Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight (clinicaltrials.gov) -  Jun 14, 2019   
    P=N/A,  N=5000, Recruiting, 
    These differences in neuromuscular fatigue profiles and recovery kinetics should be acknowledged when prescribing training programs for individuals with ID. Trial completion date: Jul 2018 --> Oct 2050 | Trial primary completion date: Jul 2018 --> Oct 2050
  • ||||||||||  New trial:  PLANCO-ISO: Impact of Joint Crisis Plan (clinicaltrials.gov) -  Jun 12, 2019   
    P=N/A,  N=96, Not yet recruiting, 
  • ||||||||||  Ztalmy (ganaxolone oral) / Marinus
    Enrollment closed, Enrollment change:  A Clinical Trial of Oral Ganaxolone in Women With Postpartum Depression (clinicaltrials.gov) -  Jun 12, 2019   
    P2,  N=84, Active, not recruiting, 
    Trial completion date: Jul 2018 --> Oct 2050 | Trial primary completion date: Jul 2018 --> Oct 2050 Recruiting --> Active, not recruiting | N=58 --> 84
  • ||||||||||  Journal:  Genetics of Primary Congenital Hypothyroidism. (Pubmed Central) -  Jun 9, 2019   
    In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.
  • ||||||||||  Journal:  Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1. (Pubmed Central) -  Jun 9, 2019   
    It was likely that mismatch between congenital reduction in the nephron number and catch-up growth of the whole body size played a major role in the development of glomerular hyperperfusion injury. At present, the direct contribution of genetic factors due to this chromosomal disorder to such a substantial reduction in the nephron number remains uncertain.
  • ||||||||||  Journal:  Structural Basis for Prolidase Deficiency Disease Mechanisms. (Pubmed Central) -  Jun 9, 2019   
    The resulting structures may be divided into four groups depending on the presumed effect of the corresponding mutations on the reaction mechanism. The four possible inactivation mechanisms, which could be elucidated, are disruption of the catalytic Mn (OH )-center, introduction of chain disorder along with the displacement of important active site residues, rigidification of the active site and flexibilisation of the active site.
  • ||||||||||  Journal:  TRIO gene segregation in a family with cerebellar ataxia. (Pubmed Central) -  Jun 7, 2019   
    It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO gene mutations may well represent a novel spinocerebellar ataxia subtype.
  • ||||||||||  Journal:  Pathways from Birth Weight to ADHD Symptoms through Fluid Reasoning in Youth with or without Intellectual Disability. (Pubmed Central) -  Jun 7, 2019   
    Neither ID status nor IQ moderated the observed indirect effect through Arithmetic, suggesting that it was similar for ID and TD youth as well as across the range of youth IQs. These findings support previous evidence that fluid reasoning, as measured by Arithmetic, may causally mediate birth weight and ADHD symptoms, and suggest that this pathway operates similarly with respect to the development of ADHD symptoms in youth with ID.
  • ||||||||||  Journal:  Aberrant RNA Translation in Fragile X Syndrome: From FMRP Mechanisms to Emerging Therapeutic Strategies. (Pubmed Central) -  Jun 7, 2019   
    Various FMRP targets upstream and downstream of the translational machinery are therefore being investigated to further our understanding of the molecular mechanism of RNA and protein synthesis dysregulation in FXS as well as test their potential role as therapeutic interventions to alleviate FXS associated symptoms. In this review, we will broadly discuss recent advancements made towards understanding the role of FMRP in translation regulation, new pre-clinical animal models with FMRP targets located at different levels of the translational and signal transduction pathways for therapeutic intervention as well as future use of stem cells to model FXS associated phenotypes.
  • ||||||||||  Journal:  Dynamic duo - FMRP and TDP-43: regulating common targets, causing different diseases. (Pubmed Central) -  Jun 7, 2019   
    When deficient, Fragile X Mental Retardation Protein (FMRP) causes developmental deficits and autistic behaviors while TAR-DNA Binding Protein (TDP-43) dysregulation causes age dependent neuronal degeneration. Recent findings that FMRP and TDP-43 associate in ribonuclear protein particles and share mRNA targets in neurons highlight the critical importance of translation regulation in synaptic plasticity and provide new perspectives on neuronal vulnerability during lifespan.
  • ||||||||||  Clinical, Journal:  Three Japanese patients with 3p13 microdeletions involving FOXP1. (Pubmed Central) -  Jun 7, 2019   
    In addition, "square shaped face" commonly observed in all three patients may be a characteristic finding undescribed previously. From the obtained findings, "FOXP1-related intellectual disability syndrome" was considered to be clinically recognizable.
  • ||||||||||  Biomarker, Journal:  Mozart's music and multidrug-resistant epilepsy: a potential EEG index of therapeutic effectiveness. (Pubmed Central) -  Jun 7, 2019   
    In a previous study we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of cases. This study aims to assess electroencephalography as a quantitative (qEEG) predictive biomarker of effectiveness of listening to music on the frequency of epileptic discharges and on background rhythm frequency (BRF).
  • ||||||||||  Journal:  A novel mutation in the GATAD2B gene associated with severe intellectual disability. (Pubmed Central) -  Jun 7, 2019   
    This study aims to assess electroencephalography as a quantitative (qEEG) predictive biomarker of effectiveness of listening to music on the frequency of epileptic discharges and on background rhythm frequency (BRF). We report a novel GATAD2B mutation in a boy exhibiting bilateral leg spasticity and white matter abnormalities on brain magnetic resonance imaging.
  • ||||||||||  Journal:  Prenatal Diagnosis Using Chromosomal SNP Microarrays. (Pubmed Central) -  Jun 7, 2019   
    This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay, neurocognitive phenotypes, congenital anomalies, and prenatal diagnosis wherein the referral could be ultrasound anomalies, advanced maternal age, and normal course of pregnancy. We describe the use of Chromosomal SNP microarrays for prenatal diagnosis of genetic disorders which result from both copy number or copy neutral changes in the genome.