療育手帳に係る統一的な判定基準の検討ならびに児童相談所等における適切な判定業務を推進させるための研究

金沢大学人間社会研究域人間科学系療育手帳制度は、昭和48 年に都道府県知事および指定都市長宛になされた厚生事務次官通知に基づき開始され、その判定基準は都道府県及び指定都市ごとに定められている。これまで、療育手帳の判定基準のばらつきによる弊害が多く指摘されてきたが、未だ療育手帳の判定方法や重症度に関する統一基準は確立されていない。このような療育手帳の弊害の是正を図るため、本研究は６つの分担研究を通じて、療育手帳の判定業務および障害等級の基準の統一化に向けた基礎資料を作成することを目的とした。本研究の結果から、療育手帳の判定の基準の統一化を図るためには、１：知的障害者福祉法における知的障害の定義の明確化、２：ICD-11 の知的障害の診断基準に沿った判定を行うため、偏差IQ および標準指数の算出が可能な知能検査および適応行動の評価尺度を実施できるなど、知的障害の診断・評価ができるトレーニングを受けた専門家の養成、３：知能、適応行動双方の合成値を用いることが知的障害者の判別の精度を高め、知能検査としてはウェクスラー式検査、適応行動尺度としてはVineland-II が療育手帳判定に推奨されること、4：ICD-11 に基づいた療育手帳の判定の方法・基準・重症度（障害区分）の整備、5：現在の療育手帳の業務のあり方に関する全国規模での再検討が必要であることが示唆厚生労働科学研究費補助金 (障害者政策総合研究事業: 療育手帳に係る統一的な判定基準の検討ならびに児童相談所等における適切な判定業務を推進させるための研究

Opinions on Qualifications of Surveyors of Care for Children with Disabilities in Japan

To assure the quality of care for children with disabilities, opinions on the qualifications and training programmes for surveyors of the care for children with disabilities were collected in case Japan implemented the new assessment system that specialised in care for children with disabilities. To illustrate the career pathway and to compare the system with other inspection systems overseas, this study employed a triangle model using education years as the scale. The questionnaires were twice mailed to all the administration adequacy committees and grievance committees. Seventeen committees replied. Results revealed the average number of years of education was 4.6 years and 7 years for applicants and inexperienced surveyors, respectively. The recommended duration of training programmes was 27.8 hours on average. The respondents appeared to expect extremely high qualifications to be obtained in rapid training in comparison to overseas inspectors; however, this was not uncommon in Japan. The ministry shared our findings for the improved survey. Indices of the triangle model will be beneficial to compare qualifications and evaluate training programmes

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Summary: Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls. Phenotypic analysis revealed an association between clinically significant CNVs and intellectual disability. Gene set analysis showed significant overlap of biological pathways in both disorders including oxidative stress response, lipid metabolism/modification, and genomic integrity. Finally, based on bioinformatics analysis, we identified multiple disease-relevant genes in eight well-known ASD/SCZ-associated CNV loci (e.g., 22q11.2, 3q29). Our findings suggest an etiological overlap of ASD and SCZ and provide biological insights into these disorders. : Kushima et al. perform comparative analyses of CNVs in ASD and SCZ in a Japanese population. They identify pathogenic CNVs and biological pathways in each disorder with significant overlap. Patients with pathogenic CNVs have a higher prevalence of intellectual disability. Disease-relevant genes are detected in eight well-known ASD/SCZ-associated CNV loci. Keywords: autism spectrum disorder, schizophrenia, copy-number variation, array comparative genomic hybridization, genetic overlap, Japanese population, oxidative stress response, genome integrity, lipid metabolism, gene ontolog

An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework

© 2018 The Author(s) This is the fourth international preparatory study designed to develop International Classification of Functioning, Disability and Health (ICF, and Children and Youth version, ICF-CY) Core Sets for Autism Spectrum Disorder (ASD). Examine functioning of individuals diagnosed with ASD as documented by the ICF-CY in a variety of clinical settings. A cross-sectional study was conducted, involving 11 units from 10 countries. Clinical investigators assessed functioning of 122 individuals with ASD using the ICF-CY checklist. In total, 139 ICF-CY categories were identified: 64 activities and participation, 40 body functions and 35 environmental factors. The study results reinforce the heterogeneity of ASD, as evidenced by the many functional and contextual domains impacting on ASD from a clinical perspective