著者

Tetsuya Okazaki Kaori Adachi Kaori Matsuura Yoshitaka Oyama Madoka Nose Emi Shirahata Toshiaki Abe Takeshi Hasegawa Toshiro Maihara Yoshihiro Maegaki Eiji Nanba

出版者

Tottori University Medical Press

雑誌

Yonago Acta Medica (ISSN:13468049)

巻号頁・発行日

vol.64, no.1, pp.30-33, 2021 (Released:2021-02-22)

参考文献数

13

被引用文献数

4

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Background Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown.Methods We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey.Results We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations.Conclusion In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.