Clinical Characteristics of Fragile X Syndrome Patients in Japan
| Autor: | Toshiro Maihara, Toshiaki Abe, Eiji Nanba, Emi Shirahata, Tetsuya Okazaki, Kaori Adachi, Madoka Nose, Takeshi Hasegawa, Kaori Matsuura, Yoshihiro Maegaki, Yoshitaka Oyama |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Autistic spectrum disorder genetic testing 03 medical and health sciences 0302 clinical medicine FMR1 gene Large ears Intellectual disability medicine fragile X syndrome Genetic testing Developmental quotient medicine.diagnostic_test business.industry Macrocephaly Polymerase chain reaction analysis General Medicine medicine.disease Fragile X syndrome intellectual disability 030220 oncology & carcinogenesis CGG repeat expansion 030211 gastroenterology & hepatology Original Article medicine.symptom business |
| Zdroj: | T. Okazaki, K. Adachi, K. Matsuura, et al. Clinical Characteristics of Fragile X Syndrome Patients in Japan. Yonago Acta Medica. 2021, 64(1), 30-33. doi:10.33160/yam.2021.02.005 Yonago Acta Med |
| ISSN: | 0513-5710 |
| DOI: | 10.33160/yam.2021.02.005 |
| Popis: | [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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|