Apocynin, a Selective NADPH Oxidase (Nox2) Inhibitor, Ameliorates Behavioural and Learning Deficits in the Fragile X Syndrome Mouse Model.

Fragile X Syndrome (FXS) is associated with intellectual disability, hyperactivity, social anxiety and signs of autism. Hyperactivation of NADPH oxidase has been previously described in the brain of the male -KO mouse. This work aims to demonstrate the efficacy of Apocynin, a specific NADPH oxidase inhibitor, in treating Fragile X mouse hallmarks.

Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks.

Neuromuscular disorders (NMDs) represent an important subset of rare diseases associated with elevated morbidity and mortality whose diagnosis can take years. Here we present a novel approach using systems biology to produce functionally-coherent phenotype clusters that provide insight into the cellular functions and phenotypic patterns underlying NMDs, using the Human Phenotype Ontology as a common framework. Gene and phenotype information was obtained for 424 NMDs in OMIM and 126 NMDs in Orphanet, and 335 and 216 phenotypes were identified as typical for NMDs, respectively.

Detection of Early Warning Signs in Autism Spectrum Disorders: A Systematic Review.

Due to the exponential increase of autism spectrum disorders' prevalence in Western countries, it is necessary to improve early detection and intervention to enhance developmental milestones. This systematic review identified the most effective screening instrument, which can be used at an early age and which identifies the maximum number of autism cases. We identified several instruments with adequate predictive properties-the Autism Parent Screen for Infants (APSI), Battelle Development Inventory, second edition (BDI-2); Brief Infant-Toddler Social and Emotional Assessment (BITSEA); First Year Inventory (FYI); Infant-Toddler Checklist/Communication and Symbolic Behavior Scales Developmental Profile (ITC/CSBS-DP); Program of Research and Studies on AUTISM (PREAUT-Grid); Checklist for Early Signs of Developmental Disorders (CESDD); Social Attention and Communication Study (SACS); and the Screening Tool for Autism in Toddlers and Young Children (STAT)-that can be applied from 12 months of age in Western countries.

Clinical and genetic differences between bipolar disorder type 1 and 2 in multiplex families.

The two major subtypes of bipolar disorder (BD), BD-I and BD-II, are distinguished based on the presence of manic or hypomanic episodes. Historically, BD-II was perceived as a less severe form of BD-I. Recent research has challenged this concept of a severity continuum.