Perimenstrual symptoms and it's management - Assessment with Menstrual Distress Questionnaire -

月経周期の変化に伴う多様で複雑な月経周辺期の症状を,出来るだけ単純で基本的に共通した変化として捉え,症状に適した対応を検討することを目的として本研究を行った｡月経を有する22～45歳の女性34名に対し,Menstrual Distress Questionnaireの即時的回答法を用いて月経周辺期を[痛み],[集中力],[行動変化],[自律神経反応],[水分貯留],[負の感情]から構成された35症状6領域で縦断的に追究し,以下の結果を得た｡ 1.月経周辺期の症状を縦断的に比較検討した結果,Moosのデータと近似した日本人のデータを示した｡ 2.月経周辺期における領域の推移では,身体的症状で構成される[痛み領域],[水分貯留領域]の2領域が精神的症状で構成される他の領域に比べ,常に上位を占めていた｡以上の事より,月経周辺期の生理的変化に伴う精神的愁訴は,身体的変化によって誘発されている可能性が示唆された｡Each of 34 women rated their experience of 46 symptoms on a six-point scale separately for the premenstrual, menstrual, and intermenstrual phases of her most recent menstrual cycle. The 46 symptoms were intercorrelated and factor analyzed separately for each phase. These symptoms were divided into six clusters of symptoms, such as pain, concentration, behavioral change, autonomic reaction, water retention, and negative affect. Pain and water retention were composed of physical symptoms, were always at higher position than three clusters of menstrual symptoms in perimenstrual change. Thus, mental symptoms in perimenstrual physiological changes were might be induced by physical changes

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p =.09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p =.08 in the current study, p =.025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes. © 2014 American Academy of Child and Adolescent Psychiatry

Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures