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Article

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

1
Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane 693-8501, Japan
2
Secretariat of Special Formula, Aiiku Maternal and Child Health Center, Imperial Gift Foundation Boshi-Aiiku-Kai, 5-6-8 Minami Azabu, Minato-ku, Tokyo 106-8580, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Toshihiro Tajima
Int. J. Neonatal Screen. 2021, 7(2), 21; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020021
Received: 3 March 2021 / Revised: 29 March 2021 / Accepted: 12 April 2021 / Published: 14 April 2021
(This article belongs to the Collection Newborn Screening in Japan)
Japanese newborn screening (NBS) for phenylketonuria (PKU) was initiated in 1977. We surveyed the neurological outcomes of Japanese adult patients with PKU to investigate the long-term effects and of and issues with NBS. Eighty-five patients with PKU aged over 19 years who continued to be treated with a phenylalanine-free amino acid formula were investigated by administering questionnaires regarding clinical characteristics, such as mental ability, education status, and therapeutic condition. Of the 85 subjects, 68 patients were detected by NBS (NBS group), while the other 17 were clinically diagnosed before the initiation of NBS (pre-NBS group). Further, 10 of the 68 NBS patients presented intellectual and/or psychiatric disabilities, 5 of whom had a history of treatment discontinuation; in contrast, 12 of the 17 pre-NBS patients presented with neuropsychiatric symptoms. Regarding social outcomes, almost all patients in the NBS group could live an independent life, while over half of the patients in the pre-NBS group were not employed or lived in nursing-care facilities. Neurological outcomes are obviously improved by NBS in Japan. However, some patients, even those detected by NBS, developed neuropsychiatric symptoms due to treatment disruption. Lifelong and strict management is essential to maintain good neurological and social prognoses for patients with PKU. View Full-Text
Keywords: phenylketonuria; newborn screening; long-term outcome; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation phenylketonuria; newborn screening; long-term outcome; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation
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MDPI and ACS Style

Yamada, K.; Yamaguchi, S.; Yokoyama, K.; Aoki, K.; Taketani, T. Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan. Int. J. Neonatal Screen. 2021, 7, 21. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020021

AMA Style

Yamada K, Yamaguchi S, Yokoyama K, Aoki K, Taketani T. Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan. International Journal of Neonatal Screening. 2021; 7(2):21. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020021

Chicago/Turabian Style

Yamada, Kenji, Seiji Yamaguchi, Kazunori Yokoyama, Kikumaro Aoki, and Takeshi Taketani. 2021. "Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan" International Journal of Neonatal Screening 7, no. 2: 21. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020021

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