論文 - 石塚 佳奈子
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Prescription patterns for attention−deficit hyperactivity disorder (ADHD) medications in Japan: A retrospective claims analysis 査読あり
Kanako Ishizuka
Asian Journal of Psychiatry 94 103961 - 103961 2024年04月
担当区分：筆頭著者, 責任著者 掲載種別：研究論文（学術雑誌） 出版者・発行元：Elsevier BV
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Machine learning algorithm‐based estimation model for the severity of depression assessed using Montgomery‐Asberg depression rating scale 査読あり
Masanori Shimamoto, Kanako Ishizuka, Kento Ohtani, Toshiya Inada, Maeri Yamamoto, Masako Tachibana, Hiroki Kimura, Yusuke Sakai, Kazuhiro Kobayashi, Norio Ozaki, Masashi Ikeda
Neuropsychopharmacology Reports 2023年12月
掲載種別：研究論文（学術雑誌） 出版者・発行元：Wiley
Abstract
Aim
Depressive disorder is often evaluated using established rating scales. However, consistent data collection with these scales requires trained professionals. In the present study, the “rater & estimation‐system” reliability was assessed between consensus evaluation by trained psychiatrists and the estimation by 2 models of the AI‐MADRS (Montgomery‐Asberg Depression Rating Scale) estimation system, a machine learning algorithm‐based model developed to assess the severity of depression.
Methods
During interviews with trained psychiatrists and the AI‐MADRS estimation system, patients responded orally to machine‐generated voice prompts from the AI‐MADRS structured interview questions. The severity scores estimated from two models of the AI‐MADRS estimation system, the max estimation model and the average estimation model, were compared with those by trained psychiatrists.
Results
A total of 51 evaluation interviews conducted on 30 patients were analyzed. Pearson's correlation coefficient with the scores evaluated by trained psychiatrists was 0.76 (95% confidence interval 0.62–0.86) for the max estimation model, and 0.86 (0.76–0.92) for the average estimation model. The ANOVA ICC rater & estimation‐system reliability with the evaluation scores by trained psychiatrists was 0.51 (−0.09 to 0.79) for the max estimation model, and 0.75 (0.55–0.86) for the average estimation model.
Conclusion
The average estimation model of AI‐MADRS demonstrated substantially acceptable rater & estimation‐system reliability with trained psychiatrists. Accumulating a broader training dataset and the refinement of AI‐MADRS interviews are expected to improve the performance of AI‐MADRS. Our findings suggest that AI technologies can significantly modernize and potentially revolutionize the realm of depression assessments.DOI： 10.1002/npr2.12404
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Kanako Ishizuka
Psychiatry and Clinical Neurosciences Reports 2 ( 3 ) 2023年09月
担当区分：筆頭著者, 責任著者 記述言語：英語 掲載種別：研究論文（学術雑誌）
DOI： 10.1002/pcn5.147
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Factors predicting early treatment discontinuation among depressed patients of working age in a psychiatric outpatient practice 査読あり
Kanako Ishizuka, Tomomi Ishiguro, Daisuke Kawaguchi, Norio Nomura, Toshiya Inada
Psychiatry Research Communications 3 ( 3 ) 100128 - 100128 2023年09月
担当区分：筆頭著者 掲載種別：研究論文（学術雑誌） 出版者・発行元：Elsevier BV
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「発達障害は遺伝しますか？」という質問にどのようにアドバイスすべきでしょうか？ 招待あり
石塚 佳奈子
精神医学増大号 65 ( 5 ) 558 - 560 2023年05月
担当区分：筆頭著者, 最終著者, 責任著者 記述言語：日本語
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抗うつ薬服薬中にみられる躁転 招待あり
松岡崇史, 石塚佳奈子, 稲田俊也
臨床精神薬理 26 ( 4 ) 417 - 424 2023年04月
記述言語：日本語
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Molecular diagnosis of 405 individuals with autism spectrum disorder. 査読あり 国際誌
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
European journal of human genetics : EJHG 2023年03月
記述言語：英語 掲載種別：研究論文（学術雑誌）
Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. All candidate variants were validated by Sanger sequencing or quantitative polymerase chain reaction and were evaluated using the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines for molecular diagnosis. We identified 55 disease-causing SNVs/indels in 53 affected individuals and 13 disease-causing CNVs in 13 affected individuals, achieving a molecular diagnosis in 66 of 405 affected individuals (16.3%). Among the 55 disease-causing SNVs/indels, 51 occurred de novo, 2 were compound heterozygous (in one patient), and 2 were X-linked hemizygous variants inherited from unaffected mothers. The molecular diagnosis rate in females was significantly higher than that in males. We analyzed affected sibling cases of 24 quads and 2 quintets, but only one pair of siblings shared an identical pathogenic variant. Notably, there was a higher molecular diagnostic rate in simplex cases than in multiplex families. Our simulation indicated that the diagnostic yield is increasing by 0.63% (range 0-2.5%) per year. Based on our simple simulation, diagnostic yield is improving over time. Thus, periodical reevaluation of ES data should be strongly encouraged in undiagnosed ASD patients.
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Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes 査読あり
Hiroki Kimura, Masahiro Nakatochi, Branko Aleksic, James Guevara, Miho Toyama, Yu Hayashi, Hidekazu Kato, Itaru Kushima, Mako Morikawa, Kanako Ishizuka, Takashi Okada, Yoshinori Tsurusaki, Atsushi Fujita, Noriko Miyake, Tomoo Ogi, Atsushi Takata, Naomichi Matsumoto, Joseph Buxbaum, Norio Ozaki, Jonathan Sebat
Translational Psychiatry 12 ( 1 ) 2022年12月
掲載種別：研究論文（学術雑誌） 出版者・発行元：Springer Science and Business Media LLC
Abstract
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been few genetic studies of ASD in the Japanese population. In whole exomes from a Japanese ASD sample of 309 cases and 299 controls, rare variants were associated with ASD within specific neurodevelopmental gene sets, including highly constrained genes, fragile X mental retardation protein target genes, and genes involved in synaptic function, with the strongest enrichment in trans-synaptic signaling (p = 4.4 × 10<sup>−4</sup>, Q-value = 0.06). In particular, we strengthen the evidence regarding the role of ABCA13, a synaptic function-related gene, in Japanese ASD. The overall results of this case-control exome study showed that rare variants related to synaptic function are associated with ASD susceptibility in the Japanese population. -
A systematic review and network meta‐analysis of antimanic drugs for the treatment of acute mania used in Japan 査読あり
Kanako Ishizuka, Toshiya Inada
Psychiatry and Clinical Neurosciences Reports 1 ( 4 ) 2022年11月
担当区分：筆頭著者 記述言語：英語 掲載種別：研究論文（学術雑誌）
DOI： 10.1002/pcn5.60
その他リンク： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/pcn5.60
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日常臨床で家族の精神疾患発症リスクが話題になった時どう応じるか，患者の母親に遺伝カウンセリングを行った一例を通じて考える 査読あり
石塚 佳奈子
児童青年精神医学とその近接領域 63 ( 4 ) 546 - 553 2022年08月
担当区分：筆頭著者, 責任著者 記述言語：日本語 掲載種別：研究論文（学術雑誌）
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Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels 査読あり
Miho Toyama, Yuto Takasaki, Aleksic Branko, Hiroki Kimura, Hidekazu Kato, Yoshihiro Nawa, Itaru Kushima, Kanako Ishizuka, Teppei Shimamura, Tomoo Ogi, Norio Ozaki
PLOS ONE 17 ( 5 ) e0268321 - e0268321 2022年05月
掲載種別：研究論文（学術雑誌） 出版者・発行元：Public Library of Science (PLoS)
Background
Most sequencing studies of schizophrenia (SCZ) have focused on de novo genetic variants due to interpretability. However, investigating shared rare variants among patients in the same multiplex family is also important. Relatively large-scale analyses of SCZ multiplex families have been done in Caucasian populations, but whether detected variants are also pathogenic in the Japanese population is unclear because of ethnic differences in rare variants.
Materials and methods
We performed whole-exome sequencing (WES) of 14 Japanese SCZ multiplex families. After quality control and filtering, we identified rare variants shared among affected persons within the same family. A gene ontology (GO) analysis was performed to identify gene categories possibly affected by these candidate variants.
Results
We found 530 variants in 486 genes as potential candidate variants from the 14 SCZ multiplex families examined. The GO analysis demonstrated significant enrichment in calcium channel activity.
Conclusion
This study provides supporting evidence that calcium ion channel activity is involved in SCZ. WES of multiplex families is a potential means of identifying disease-associated rare variants for SCZ. -
Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder. 査読あり
Sho Furuta, Branko Aleksic, Yoshihiro Nawa, Hiroki Kimura, Itaru Kushima, Kanako Ishizuka, Hidekazu Kato, Miho Toyama, Yuko Arioka, Daisuke Mori, Mako Morikawa, Toshiya Inada, Norio Ozaki
Nagoya journal of medical science 84 ( 2 ) 260 - 268 2022年05月
記述言語：英語 掲載種別：研究論文（学術雑誌）
A number of genomic mutations that are thought to be strongly involved in the development of schizophrenia (SCZ) and autism spectrum disorder (ASD) have been identified. Abnormalities involving oligodendrocytes have been reported in SCZ, and as a related gene, oligodendrocyte lineage transcription factor 2 (OLIG2) has been reported to be strongly associated with SCZ. In this study, based on the common disease-rare variant hypothesis, target sequencing of candidate genes was performed to identify rare mutations with a high effect size and the possibility that the identified mutations may increase the risks of SCZ and ASD in the Japanese population. In this study, the exon region of OLIG2 was targeted; 370 patients with SCZ and 192 with ASD were subjected to next-generation sequencing. As a result, one rare missense mutation (A33T) was detected. We used the Sanger method to validate this missense mutation with a low frequency (<1%), and then carried out a genetic association analysis involving 3299 unrelated individuals (1447 with SCZ, 380 with ASD, and 1472 healthy controls) to clarify whether A33T was associated with SCZ or ASD. A33T was not found in either case group, and in only one control. We did not find evidence that p.A33T is involved in the onset of ASD or SCZ; however, associations with this variant need to be evaluated in larger samples to confirm our results.
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Psychiatric patients with a de novo 17q12 deletion: two case reports. 査読あり 国際誌
Itaru Kushima, Mariko Uematsu, Kanako Ishizuka, Branko Aleksic, Norio Ozaki
Psychiatry and clinical neurosciences 2022年04月
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Cross-disorder analysis of genic and regulatory copy number variations in bipolar disorder, schizophrenia, and autism spectrum disorder 査読あり
Itaru Kushima, Masahiro Nakatochi, Branko Aleksic, Takashi Okada, Hiroki Kimura, Hidekazu Kato, Mako Morikawa, Toshiya Inada, Kanako Ishizuka, Youta Torii, Yukako Nakamura, Satoshi Tanaka, Miho Imaeda, Nagahide Takahashi, Maeri Yamamoto, Kunihiro Iwamoto, Yoshihiro Nawa, Nanayo Ogawa, Shuji Iritani, Yu Hayashi, Tzuyao Lo, Gantsooj Otgonbayar, Sho Furuta, Nakao Iwata, Masashi Ikeda, Takeo Saito, Kohei Ninomiya, Tomo Okochi, Ryota Hashimoto, Hidenaga Yamamori, Yuka Yasuda, Michiko Fujimoto, Kenichiro Miura, Masanari Itokawa, Makoto Arai, Mitsuhiro Miyashita, Kazuya Toriumi, Kazutaka Ohi, Toshiki Shioiri, Kiyoyuki Kitaichi, Toshiyuki Someya, Yuichiro Watanabe, Jun Egawa, Tsutomu Takahashi, Michio Suzuki, Tsukasa Sasaki, Mamoru Tochigi, Fumichika Nishimura, Hidenori Yamasue, Hitoshi Kuwabara, Tomoyasu Wakuda, Takahiro A. Kato, Shigenobu Kanba, Hideki Horikawa, Masahide Usami, Masaki Kodaira, Kyota Watanabe, Takeo Yoshikawa, Tomoko Toyota, Shigeru Yokoyama, Toshio Munesue, Ryo Kimura, Yasuko Funabiki, Hirotaka Kosaka, Minyoung Jung, Kiyoto Kasai, Tempei Ikegame, Seiichiro Jinde, Shusuke Numata, Makoto Kinoshita, Tadafumi Kato, Chihiro Kakiuchi, Kazuhiro Yamakawa, Toshimitsu Suzuki, Naoki Hashimoto, Shuhei Ishikawa, Bun Yamagata, Shintaro Nio, Toshiya Murai, Shuraku Son, Yasuto Kunii, Hirooki Yabe, Masumi Inagaki, Yu-ichi Goto, Yuto Okumura, Tomoya Ito, Yuko Arioka, Daisuke Mori, Norio Ozaki
Biological Psychiatry 92 ( 5 ) 362 - 374 2022年04月
掲載種別：研究論文（学術雑誌） 出版者・発行元：Elsevier BV
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Autistic traits as predictors of persistent depression. 査読あり 国際誌
Kanako Ishizuka, Tomomi Ishiguro, Norio Nomura, Toshiya Inada
European archives of psychiatry and clinical neuroscience 272 ( 2 ) 211 - 216 2022年03月
担当区分：筆頭著者 記述言語：英語 掲載種別：研究論文（学術雑誌）
Persistent depression has been suggested to be associated with autistic traits in people of working age. This study aimed to clarify which autistic characteristics at the initial visit were associated with persistent depression at the 12 week follow-up in a primary care setting. Newly depressed outpatients aged 24-59 years with no history of autism were asked to complete the 50-item autism spectrum quotient (AQ) and the Beck depression inventory (BDI) at baseline and 12 week follow-up (N = 123, males: 48%, age: 37.7 ± 9.15 years). Nearly 40% of participants had an AQ score ≥ 26. Significant differences were observed between the group with remitted depression (N = 43) and those with persistent depression (N = 80) in educational years and AQ "attention switching" and "attention to detail" subscale scores. In addition, a statistically significant decrease in the total AQ and the "communication" and "imagination" scores were observed in the remitted group, while no such change was observed in the group with persistent depression. It remains unclear whether the self-perceived severity of communication and imagination traits in persistent depression was due to the state of persistent depression or a kind of premorbid autistic trait. The results suggest that high levels of autistic traits are frequently present in adults with depression. High "attention switching" and "attention to detail" scores in AQ screening at the first visit might predict the persistence of depressive symptoms after 12 weeks in adults with depression, while total AQ scores, especially for "communication" and "imagination" items, might be state-dependent.
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Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder. 査読あり 国際誌
Chenyao Wang, Shin-Ichiro Horigane, Minoru Wakamori, Shuhei Ueda, Takeshi Kawabata, Hajime Fujii, Itaru Kushima, Hiroki Kimura, Kanako Ishizuka, Yukako Nakamura, Yoshimi Iwayama, Masashi Ikeda, Nakao Iwata, Takashi Okada, Branko Aleksic, Daisuke Mori, Takashi Yoshida, Haruhiko Bito, Takeo Yoshikawa, Sayaka Takemoto-Kimura, Norio Ozaki
Translational psychiatry 12 ( 1 ) 84 - 84 2022年02月
記述言語：英語 掲載種別：研究論文（学術雑誌）
Several large-scale whole-exome sequencing studies in patients with schizophrenia (SCZ) and autism spectrum disorder (ASD) have identified rare variants with modest or strong effect size as genetic risk factors. Dysregulation of cellular calcium homeostasis might be involved in SCZ/ASD pathogenesis, and genes encoding L-type voltage-gated calcium channel (VGCC) subunits Cav1.1 (CACNA1S), Cav1.2 (CACNA1C), Cav1.3 (CACNA1D), and T-type VGCC subunit Cav3.3 (CACNA1I) recently were identified as risk loci for psychiatric disorders. We performed a screening study, using the Ion Torrent Personal Genome Machine (PGM), of exon regions of these four candidate genes (CACNA1C, CACNA1D, CACNA1S, CACNA1I) in 370 Japanese patients with SCZ and 192 with ASD. Variant filtering was applied to identify biologically relevant mutations that were not registered in the dbSNP database or that have a minor allele frequency of less than 1% in East-Asian samples from databases; and are potentially disruptive, including nonsense, frameshift, canonical splicing site single nucleotide variants (SNVs), and non-synonymous SNVs predicted as damaging by five different in silico analyses. Each of these filtered mutations were confirmed by Sanger sequencing. If parental samples were available, segregation analysis was employed for measuring the inheritance pattern. Using our filter, we discovered one nonsense SNV (p.C1451* in CACNA1D), one de novo SNV (p.A36V in CACNA1C), one rare short deletion (p.E1675del in CACNA1D), and 14 NSstrict SNVs (non-synonymous SNV predicted as damaging by all of five in silico analyses). Neither p.A36V in CACNA1C nor p.C1451* in CACNA1D were found in 1871 SCZ cases, 380 ASD cases, or 1916 healthy controls in the independent sample set, suggesting that these SNVs might be ultra-rare SNVs in the Japanese population. The neuronal splicing isoform of Cav1.2 with the p.A36V mutation, discovered in the present study, showed reduced Ca2+-dependent inhibition, resulting in excessive Ca2+ entry through the mutant channel. These results suggested that this de novo SNV in CACNA1C might predispose to SCZ by affecting Ca2+ homeostasis. Thus, our analysis successfully identified several ultra-rare and potentially disruptive gene variants, lending partial support to the hypothesis that VGCC-encoding genes may contribute to the risk of SCZ/ASD.
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Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with NBEA deletion. 査読あり 国際誌
Hidekazu Kato, Itaru Kushima, Akira Yoshimi, Kanako Ishizuka, Hiroki Kimura, Branko Aleksic, Nagahide Takahashi, Takashi Okada, Norio Ozaki
Psychiatry and clinical neurosciences 76 ( 1 ) 36 - 38 2022年01月
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Catatonia and Delirium: Similarity and Overlap of Acute Brain Dysfunction. 招待あり 査読あり 国際誌
Masako Tachibana, Kanako Ishizuka, Toshiya Inada
Frontiers in psychiatry 13 876727 - 876727 2022年
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Possible Commonalities of Clinical Manifestations Between Dystonia and Catatonia. 招待あり 査読あり 国際誌
Kanako Ishizuka, Masako Tachibana, Toshiya Inada
Frontiers in psychiatry 13 876678 - 876678 2022年
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Psychosocial characteristics of alcoholic and non-alcoholic liver disease recipient candidates in liver transplantation: a prospective observational study. 国際誌
Masato Shizuku, Hiroyuki Kimura, Hideya Kamei, Shinichi Kishi, Tatsuya Tokura, Nobuhiko Kurata, Kanta Jobara, Atsushi Yoshizawa, Chisato Tsuboi, Naoko Yamaguchi, Midori Kato, Keita Kawai, Makoto Yamashiki, Emi Kanai, Kanako Ishizuka, Norio Ozaki, Yasuhiro Ogura
BMC gastroenterology 21 ( 1 ) 449 - 449 2021年11月
記述言語：英語 掲載種別：研究論文（学術雑誌）
BACKGROUND: There are long-standing controversies about the transplant indications for alcoholic liver disease (ALD), because of the recognition that ALD is fundamentally self-inflicted. However, it is unclear whether psychosocial characteristics of ALD are different from that of non-alcoholic liver disease (NALD) in the selection of liver transplantation (LT) recipients. We aimed to clarify the psychosocial characteristics of ALD recipients (ALD-R)/ALD recipient candidates (ALD-RC) and NALD recipients (NALD-R)/ NALD recipient candidates (NALD-RC). METHODS: From 2011 to 2019, 75 patients were enrolled in this prospective observational study (ALD-RC, n = 19; NALD-RC, n = 56), LT were carried out as follow; ALD-R, n = 6; NALD-R, n = 52. We evaluated psychosocial characteristics in the preoperative period and 3, 12 months after LT (ALD-R, n = 3/3; NALD-R, n = 28/25). The following scales were used to evaluate psychosocial characteristics: Visual Analogue Scale, Alcohol Use Disorders Identification Test, Hospital Anxiety and Depression Scale, Beck Depression Inventory, Brief Evaluation of Medication Influences and Beliefs, Social Support Questionnaire (SSQ), Temperament and Character Inventory, Parental Bonding Instrument (PBI), the Short Form Health Survey (SF-36). RESULTS: When evaluating on the basis of abstinence rule, a comparison of ALD-RC and NALD-RC in the preoperative period identified similar patterns of psychosocial characteristics, except that the NALD-RC scored higher on the PBI item "overprotection from mother" (P < 0.05). The only significant difference between ALD-R and NALD-R after liver transplantation was in SSQ scores at 3 months. CONCLUSION: The psychosocial characteristics of ALD-RC and NALD-RC may be similar when evaluated on the basis of Japan's abstinence rule. This result also imply that the psychosocial characteristics of ALD-RC may differ from the previously reported psychosocial characteristics of alcohol dependent patients. These findings have the potential to provide helpful information for the evaluation of ALD-RC.
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