Davidson Trauma Scale ([DTS]; diagnostic proxy for ASD and PTSD; clinical cutoff=40, with higher score=higher severity) and the Patient Health Questionnaire-9 ([PHQ-9]; diagnostic proxy for MDD; clinical cutoff=10, with higher score=higher severity) at pretreatment, immediate posttreatment, and 1 month posttreatment.
ASD-associated SCN2A mutations impair the encoded protein Na<sub>V</sub>1.2, a sodium channel important for action potential initiation and propagation in developing excitatory cortical neurons.
We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i>TMEM187</i>) gene (Xq28; c.708G>T; p. Gln236His).
Significant overexpression of NKG2C in hf-ASD patients (<i>p</i> = 0.0005), indicative of viral infections, was inversely correlated with the NKp46 receptor level (<i>r</i> = - 0.67; <i>p</i> < 0.0001), regardless of the IgG status of tested pathogens.
An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303 kb de novo deletion at chr3p26.1 implicating GRM7 gene.
Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.
ASD significantly increased the expression of anti-oxidant enzymes (GSH, SOD, and CAT) in both liver and vascular tissue, reduced blood lipid levels (TG, TC, and LDL-C), and decreased lipid deposition in the liver and atherosclerotic lesion size in ApoE<sup>-/-</sup> mice.
We found that both idiopathic (BTBR) and genetic (CDKL5- and MeCP2-deficient) mouse models of ASD display an early, impaired cholinergic neuromodulation as reflected in altered spontaneous pupil fluctuations.
We also found large increases in specific CHD subtypes during spring, including a 34.0% (95% CI, 4.9%-70.8%) increase in conotruncal CHD in the South and a 38.6% (95% CI , 9.9%-75.1%) increase in atrial septal defect in the Northeast.
This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS).