Asd and neuropsychiatric nuances: understanding variants in phenomenology

This presentation will address aspects of ASD that are increasing in clinical significance and attention in peer-reviewed literature but are mentioned only rarely in presentations for practicing child and adolescent psychiatrists who care for affected patients. Attendees will be updated about the emerging relationships of ASD to mitochondrial disorders, new developments in epilepsy care, social behavior correlates in patients with fragile X syndrome, and disorders of impulsive control and aggression.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: Clinical Perspectives 65 Source Type: research

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CONCLUSION: In this concise review, we summarize and analyze the main hypotheses proposed to explain synaptic dysregulation in FXS, by reviewing the scientific evidence that led to pharmaceutical clinical trials and their outcome. PMID: 31682210 [PubMed - as supplied by publisher]
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Pharm Des Source Type: research
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is associated with increased risk for ASD, anxiety, ADHD, and epilepsy. Although our understanding of FXS pathophysiology has improved, a lack of validated blood-based biomarkers of disease continues to impede bench-to-bedside efforts. As a biomarker target in FXS, amyloid- β (Aβ) precursor protein (APP) is best understood in the context of Alzheimer disease; there is a growing body of evidence suggesting that the molecule and its derivatives play a broader role in neuronal hyperexcitability, a characteristic of FXS.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research
Abstract SYNGAP1 is a gene that encodes the cytosolic protein SYNGAP1 (SYNaptic GTPase Activating Protein), an essential component of the postsynaptic density at excitatory glutamatergic neurons. SYNGAP1 plays critical roles in synaptic development, structure, function, and plasticity. Mutations in SYNGAP1 result in a neurodevelopmental disorder termed Mental retardation-type 5 (OMIM #612621) with a phenotype consisting of intellectual disability, motor impairments, and epilepsy, attesting to the importance of this protein for normal brain development. Here we review the clinical and pathophysiological aspects of ...
Source: International Journal of Developmental Neuroscience - Category: Neuroscience Authors: Tags: Int J Dev Neurosci Source Type: research
Abstract Matrix metalloproteinases (MMPs) are a group of over twenty proteases, operating chiefly extracellularly to cleave components of the extracellular matrix, cell adhesion molecules as well as cytokines and growth factors. By virtue of their expression and activity patterns in animal models and clinical investigations, as well as functional studies with gene knockouts and enzyme inhibitors, MMPs have been demonstrated to play a paramount role in many physiological and pathological processes in the brain. In particular, they have been shown to influence learning and memory processes, as well as major neuropsy...
Source: Cellular and Molecular Life Sciences : CMLS - Category: Cytology Authors: Tags: Cell Mol Life Sci Source Type: research
This article also addresses the neuropharmacological potential of taurine analogs.Graphical abstract
Source: Redox Biology - Category: Biology Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Abstract The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compa...
Source: BMB Reports - Category: Biochemistry Authors: Tags: BMB Rep Source Type: research
Loss of fragile X mental retardation protein (FMRP) in fragile X syndrome is the most common cause of inherited intellectual deficiency and is associated with additional neurodevelopmental issues, including increased risks of autism and epilepsy and characteristic physical changes (1). FMRP is an mRNA binding protein (RBP) implicated in many...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Commentaries Source Type: research
Introduction: Fragile X Syndrome (FXS) is the leading form of inherited intellectual disability and autism spectrum disorder, caused by a tri-nucleotide CGG repeat expansion in the promoter region of the FMR1 gene [1]. The cognitive profile in FXS includes deficits in executive control and in visuospatial abilities, as well as in language and severe behavioural alterations with hyperactivity, impulsivity, anxiety: the condition often is associated with medical comorbidities among which epilepsy [1].
Source: Gait and Posture - Category: Orthopaedics Authors: Source Type: research
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