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1. Impact of School Closures Due to COVID-19 on Children with Neurodevelopmental Disorders in Japan

Author

Kawaoka, Naomi, Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, and Saitoh, Shinji

Abstract

In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined the impact of school closures due to COVID-19 on school-aged children with NDDs using the Child Behavior Checklist. Totally, data on 121 children diagnosed with autism spectrum disorder, attention-deficit hyperactivity disorder, and/or intellectual disorder were analyzed and it was found that externalizing and aggressive behavior increased in all NDDs, regardless of the type of diagnosis. A clear prospect is important for children with NDDs children to lead a stable life, and more generous supports for children with NDDs and their families are needed.

Published
2022
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2. Comprehensive Genetic Analysis of Non-Syndromic Autism Spectrum Disorder in Clinical Settings

Author

Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, and Saitoh, Shinji

Abstract

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings.

Published
2021
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5. Psychometrics of rating scales for externalizing disorders in Japanese outpatients: The ADHD‐Rating Scale‐5 and the Disruptive Behavior Disorders Rating Scale

Author

Ishibashi, Saeko, primary, Nishiyama, Takeshi, additional, Makino, Takuya, additional, Suzuki, Futoshi, additional, Shimada, Shoko, additional, Tomari, Shinji, additional, Imanari, Eiji, additional, Higashi, Takuma, additional, Fukumoto, Shintaro, additional, Kurata, Sawa, additional, Mizuno, Yoshifumi, additional, Morimoto, Takeshi, additional, Nakamichi, Hidetaka, additional, Iida, Tomoko, additional, Ohashi, Kei, additional, Yamada, Atsurou, additional, Kimura, Takuma, additional, Kuru, Yukiko, additional, Sumi, Satoshi, additional, Tanaka, Yasuo, additional, Ono, Kazuya, additional, Ichikawa, Hironobu, additional, DuPaul, George J., additional, and Kosaka, Hirotaka, additional

Published
2024
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6. Crossover from coherent to incoherent scattering in spin-orbit dominated Sr2IrO4

Author

Cetin, Mehmet Fatih, Lemmens, Peter, Gnezdilov, Vladimir, Wulferding, Dirk, Menzel, Dirk, Takayama, Tomohiro, Ohashi, Kei, and Takagi, Hidenori

Subjects
Condensed Matter - Strongly Correlated Electrons, Condensed Matter - Superconductivity
Abstract

Strong spin-orbit interaction in the two dimensional compound Sr2IrO4 leads to the formation of Jeff=1/2 isospins with unprecedented dynamics. In Raman scattering a continuum attributed to double spin scattering is observed. With higher excitation energy of the incident Laser this signal crosses over to an incoherent background. The characteristic energy scale of this cross over is identical to that of intensity resonance effects in phonon scattering. It is related to exciton-like orbital excitations that are also evident in resonant X-Ray scattering. The crossover and evolution of incoherent excitations are proposed to be due to their coupling to spin excitations. This signals a spin-orbit induced entanglement of spin, lattice and charge degrees of freedoms in Sr2IrO4., Comment: 20 pages, 7 figures

Published
2012
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8. Molecular diagnosis of 405 individuals with autism spectrum disorder

Author

Miyake, Noriko, primary, Tsurusaki, Yoshinori, additional, Fukai, Ryoko, additional, Kushima, Itaru, additional, Okamoto, Nobuhiko, additional, Ohashi, Kei, additional, Nakamura, Kazuhiko, additional, Hashimoto, Ryota, additional, Hiraki, Yoko, additional, Son, Shuraku, additional, Kato, Mitsuhiro, additional, Sakai, Yasunari, additional, Osaka, Hitoshi, additional, Deguchi, Kimiko, additional, Matsuishi, Toyojiro, additional, Takeshita, Saoko, additional, Fattal-Valevski, Aviva, additional, Ekhilevitch, Nina, additional, Tohyama, Jun, additional, Yap, Patrick, additional, Keng, Wee Teik, additional, Kobayashi, Hiroshi, additional, Takubo, Keiyo, additional, Okada, Takashi, additional, Saitoh, Shinji, additional, Yasuda, Yuka, additional, Murai, Toshiya, additional, Nakamura, Kazuyuki, additional, Ohga, Shouichi, additional, Matsumoto, Ayumi, additional, Inoue, Ken, additional, Saikusa, Tomoko, additional, Hershkovitz, Tova, additional, Kobayashi, Yu, additional, Morikawa, Mako, additional, Ito, Aiko, additional, Hara, Toshiro, additional, Uno, Yota, additional, Seiwa, Chizuru, additional, Ishizuka, Kanako, additional, Shirahata, Emi, additional, Fujita, Atsushi, additional, Koshimizu, Eriko, additional, Miyatake, Satoko, additional, Takata, Atsushi, additional, Mizuguchi, Takeshi, additional, Ozaki, Norio, additional, and Matsumoto, Naomichi, additional

Published
2023
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10. Molecular diagnosis of 405 individuals with autism spectrum disorder

Author

Miyake, Noriko, Tsurusaki, Yoshinori, Fukai, Ryoko, Kushima, Itaru, Okamoto, Nobuhiko, Ohashi, Kei, Nakamura, Kazuhiko, Hashimoto, Ryota, Hiraki, Yoko, Son, Shuraku, Kato, Mitsuhiro, Sakai, Yasunari, Osaka, Hitoshi, Deguchi, Kimiko, Matsuishi, Toyojiro, Takeshita, Saoko, Fattal-Valevski, Aviva, Ekhilevitch, Nina, Tohyama, Jun, Yap, Patrick, Keng, Wee Teik, Kobayashi, Hiroshi, Takubo, Keiyo, Okada, Takashi, Saitoh, Shinji, Yasuda, Yuka, Murai, Toshiya, Nakamura, Kazuyuki, Ohga, Shouichi, Matsumoto, Ayumi, Inoue, Ken, Saikusa, Tomoko, Hershkovitz, Tova, Kobayashi, Yu, Morikawa, Mako, Ito, Aiko, Hara, Toshiro, Uno, Yota, Seiwa, Chizuru, Ishizuka, Kanako, Shirahata, Emi, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Takata, Atsushi, Mizuguchi, Takeshi, Ozaki, Norio, and Matsumoto, Naomichi

Abstract

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.

Published
2024
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13. Three KINSSHIP syndrome patients with mosaic and germlineAFF3variants

Author

Inoue, Yuta, primary, Tsuchida, Naomi, additional, Okamoto, Nobuhiko, additional, Shuichi, Shimakawa, additional, Ohashi, Kei, additional, Saitoh, Shinji, additional, Ogawa, Atsushi, additional, Hamada, Keisuke, additional, Sakamoto, Masamune, additional, Miyake, Noriko, additional, Hamanaka, Kohei, additional, Fujita, Atsushi, additional, Koshimizu, Eriko, additional, Miyatake, Satoko, additional, Mizuguchi, Takeshi, additional, Ogata, Kazuhiro, additional, Uchiyama, Yuri, additional, and Matsumoto, Naomichi, additional

Published
2023
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24. Four Cases of Fetomaternal Transfusion Syndrome

Author

EBE, Seimi, primary, KASUKABE, Kozue, additional, YAMAMOTO, Kosuke, additional, IMAIZUMI, Yukie, additional, OHASHI, Kei, additional, ROKUSHIKA, Yasuhiro, additional, NAGASAKI, Rika, additional, HAMADA, Miho, additional, and KOKUBO, Minoru, additional

Published
2021
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25. What effect do mindfulness training and parent training with smartphone apps have on mothers of children with developmental disorders?

Author

Matsuki, Taro, primary, Ohashi, Kei, additional, Fukuhara, Satomi, additional, Imaeda, Masayuki, additional, Miyachi, Taishi, additional, Asai, Tomoko, additional, Yamamoto, Kojiro, additional, Ebara, Takeshi, additional, Kamijima, Michihiro, additional, Matsuzaki, Kazuki, additional, and Tamada, Hazuki, additional

Published
2020
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28. CTCFdeletion syndrome: clinical features and epigenetic delineation

Author

Hori, Ikumi, primary, Kawamura, Rie, additional, Nakabayashi, Kazuhiko, additional, Watanabe, Hidetaka, additional, Higashimoto, Ken, additional, Tomikawa, Junko, additional, Ieda, Daisuke, additional, Ohashi, Kei, additional, Negishi, Yutaka, additional, Hattori, Ayako, additional, Sugio, Yoshitsugu, additional, Wakui, Keiko, additional, Hata, Kenichiro, additional, Soejima, Hidenobu, additional, Kurosawa, Kenji, additional, and Saitoh, Shinji, additional

Published
2017
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29. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Author

Negishi, Yutaka, primary, Miya, Fuyuki, additional, Hattori, Ayako, additional, Johmura, Yoshikazu, additional, Nakagawa, Motoo, additional, Ando, Naoki, additional, Hori, Ikumi, additional, Togawa, Takao, additional, Aoyama, Kohei, additional, Ohashi, Kei, additional, Fukumura, Shinobu, additional, Mizuno, Seiji, additional, Umemura, Ayako, additional, Kishimoto, Yoko, additional, Okamoto, Nobuhiko, additional, Kato, Mitsuhiro, additional, Tsunoda, Tatsuhiko, additional, Yamasaki, Mami, additional, Kanemura, Yonehiro, additional, Kosaki, Kenjiro, additional, Nakanishi, Makoto, additional, and Saitoh, Shinji, additional

Published
2017
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31. Novel splicing mutation in theASXL3gene causing Bainbridge-Ropers syndrome

Author

Hori, Ikumi, primary, Miya, Fuyuki, additional, Ohashi, Kei, additional, Negishi, Yutaka, additional, Hattori, Ayako, additional, Ando, Naoki, additional, Okamoto, Nobuhiko, additional, Kato, Mitsuhiro, additional, Tsunoda, Tatsuhiko, additional, Yamasaki, Mami, additional, Kanemura, Yonehiro, additional, Kosaki, Kenjiro, additional, and Saitoh, Shinji, additional

Published
2016
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32. Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Author

Ieda, Daisuke, Ohashi, Kei, Hori, Ikumi, Negishi, Yutaka, Hattori, Ayako, Saitoh, Shinji, Kato, Kohji, Mizuno, Seiji, Inaba, Mie, Fukumura, Shinobu, Kurahashi, Naoko, and Maruyama, Koichi

Subjects
*FACIAL abnormalities, *HAMARTOMA, *INTELLECTUAL disabilities, *GENETIC mutation, *DISEASE susceptibility
Abstract

Background Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. Methods PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay. The clinical features of all the patients with a PTEN mutation were abstracted by dysmorphologists. Results We have identified six children with a PTEN mutation. Clinical dissection of these six patients, in addition to patient reports in the literature, revealed distinctive facial features that included frontal bossing, dolichocephaly, horizontal eyebrows, and a depressed nasal bridge. Macrocephaly (+3.2 to +6.0 SD) was noticeable compared to their height (−0.8 to +2.1 SD), and the difference in the SD value of head circumference and height was more than 3 SD in all patients. Conclusion The presence of distinctive facies, extreme macrocephaly with normal to mildly high stature, and developmental delay may be useful for identifying patients with a PTEN mutation in childhood. Early identification of patients with a PTEN mutation would help uncover the natural course of tumor development in this group of individuals who have a possible predisposition to cancer, and be important for the development of an optimal surveillance strategy. [ABSTRACT FROM AUTHOR]

Published
2018
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33. Integrative Analyses of De NovoMutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Author

Takata, Atsushi, Miyake, Noriko, Tsurusaki, Yoshinori, Fukai, Ryoko, Miyatake, Satoko, Koshimizu, Eriko, Kushima, Itaru, Okada, Takashi, Morikawa, Mako, Uno, Yota, Ishizuka, Kanako, Nakamura, Kazuhiko, Tsujii, Masatsugu, Yoshikawa, Takeo, Toyota, Tomoko, Okamoto, Nobuhiko, Hiraki, Yoko, Hashimoto, Ryota, Yasuda, Yuka, Saitoh, Shinji, Ohashi, Kei, Sakai, Yasunari, Ohga, Shouichi, Hara, Toshiro, Kato, Mitsuhiro, Nakamura, Kazuyuki, Ito, Aiko, Seiwa, Chizuru, Shirahata, Emi, Osaka, Hitoshi, Matsumoto, Ayumi, Takeshita, Saoko, Tohyama, Jun, Saikusa, Tomoko, Matsuishi, Toyojiro, Nakamura, Takumi, Tsuboi, Takashi, Kato, Tadafumi, Suzuki, Toshifumi, Saitsu, Hirotomo, Nakashima, Mitsuko, Mizuguchi, Takeshi, Tanaka, Fumiaki, Mori, Norio, Ozaki, Norio, and Matsumoto, Naomichi

Abstract

Recent studies have established important roles of de novomutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the “de novoparadigm” of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits. Analysis of individual genes identified 61 genes enriched for damaging DNMs, including ten genes for which our dataset now contributes to statistical significance. Screening of compounds altering the expression of genes hit by damaging DNMs reveals a global downregulating effect of valproic acid, a known risk factor for ASDs, whereas cardiac glycosides upregulate these genes. Collectively, our integrative approach provides deeper biological and potential medical insights into ASDs.

Published
2018
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34. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Author

Hori, Ikumi, Miya, Fuyuki, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, and Saitoh, Shinji

Abstract

Bainbridge-Ropers syndrome (BRPS) is characterized by severe developmental delay, feeding problems, short stature, characteristic facal appearance including arched eyebrows and anteverted nares, and ulnar deviation of the hands. BRPS is caused by a heterozygous mutation in the additional sex combs-like 3 ( ASXL3) gene. We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. Reported disease-causing mutations in ASXL3 are located mostly in the first half of exon 11, analogous to ASXL1 mutations of which result in Bohring-Opitz syndrome (BOS). Our findings suggest that the expression of the truncated ASXL3 protein, including ASXN and ASXH domains, give rise to BRPS, which is distinct from but overlaps with BOS. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2016
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36. A novel missense mutation in the HECT domain of NEDD4Lidentified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Author

Kato, Koji, Miya, Fuyuki, Hori, Ikumi, Ieda, Daisuke, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, and Saitoh, Shinji

Abstract

We identified a novel de novoheterozygous missense mutation in the NEDD4Lgene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4Lhave been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4LHECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly. The unique constellation of clinical features in patients with NEDD4Lmutations might help clinically distinguish them from patients with other genetic mutations including FLNA,which is a well-known causative gene of periventricular nodular heterotopia. Although mutations in the HECT domain of NEDD4Lthat lead to AKT-mTOR pathway deregulation in forced expression system were reported, our western blot analysis did not show an increased level of AKT-mTOR activity in lymphoblastoid cell lines (LCLs) derived from the patient. In contrast to the forced overexpression system, AKT-mTOR pathway deregulation in LCLs derived from our patient seems to be subtle.

Published
2017
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37. Crossover from coherent to incoherent scattering in spin-orbit dominated Sr2IrO4.

Author

Cetin, Mehmet Fatih, Lemmens, Peter, Gnezdilov, Vladimir, Wulferding, Dirk, Menze, Dirk, Takayama, Tomohiro, Ohashi, Kei, and Takagi, Hidenori

Subjects
*SCATTERING (Physics), *COHERENCE (Physics), *SPIN-orbit interactions, *STRONTIUM compounds, *ELECTRONIC excitation, *FORCE & energy, *PHONON scattering, *LATTICE theory, *DEGREES of freedom
Abstract

Strong spin-orbit interaction in the two-dimensional compound Sr2lr04 leads to the formation of /eff = 1/2 isospins with unprecedented dynamics. In Raman scattering a continuum attributed to two-magnon scattering is observed. With higher excitation energy of the incident laser this signal crosses over to an incoherent signal of large intensity. The characteristic energy scale of this crossover is identical to that of intensity resonance effects in phonon scattering that involves Ir-O modes. This crossover is related to excitonlike orbital excitations that are also evident in resonant x-ray scattering. The crossover and the evolution of incoherent excitations are related to their coupling to spin excitations. This signals a spin-orbit induced entanglement of spin, lattice, and charge degrees of freedom in Sr2IrO4. [ABSTRACT FROM AUTHOR]

Published
2012
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38. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Author

Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, and Matsumoto N

Subjects
Autism Spectrum Disorder pathology, Genetic Predisposition to Disease, Humans, Autism Spectrum Disorder genetics, Mutation genetics
Abstract

Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits. Analysis of individual genes identified 61 genes enriched for damaging DNMs, including ten genes for which our dataset now contributes to statistical significance. Screening of compounds altering the expression of genes hit by damaging DNMs reveals a global downregulating effect of valproic acid, a known risk factor for ASDs, whereas cardiac glycosides upregulate these genes. Collectively, our integrative approach provides deeper biological and potential medical insights into ASDs., (Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2018
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