Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after 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.<b> </b>Eighty-five patients with PKU aged over 19 years who continu...
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doaj-fec05e5ff65741ed8ae89870d2b393872021-04-14T23:05:16ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-04-017212110.3390/ijns7020021Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in JapanKenji Yamada0Seiji Yamaguchi1Kazunori Yokoyama2Kikumaro Aoki3Takeshi Taketani4Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane 693-8501, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane 693-8501, JapanSecretariat 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, JapanSecretariat 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, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane 693-8501, JapanJapanese 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.<b> </b>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.<b> </b>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.<b> </b>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.https://www.mdpi.com/2409-515X/7/2/21phenylketonurianewborn screeninglong-term outcomeadult patientsJapaneseintellectual disability |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kenji Yamada Seiji Yamaguchi Kazunori Yokoyama Kikumaro Aoki Takeshi Taketani |
spellingShingle |
Kenji Yamada Seiji Yamaguchi Kazunori Yokoyama Kikumaro Aoki Takeshi Taketani Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan International Journal of Neonatal Screening phenylketonuria newborn screening long-term outcome adult patients Japanese intellectual disability |
author_facet |
Kenji Yamada Seiji Yamaguchi Kazunori Yokoyama Kikumaro Aoki Takeshi Taketani |
author_sort |
Kenji Yamada |
title |
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan |
title_short |
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan |
title_full |
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan |
title_fullStr |
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan |
title_full_unstemmed |
Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan |
title_sort |
long-term neurological outcomes of adult patients with phenylketonuria before and after newborn screening in japan |
publisher |
MDPI AG |
series |
International Journal of Neonatal Screening |
issn |
2409-515X |
publishDate |
2021-04-01 |
description |
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.<b> </b>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.<b> </b>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.<b> </b>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. |
topic |
phenylketonuria newborn screening long-term outcome adult patients Japanese intellectual disability |
url |
https://www.mdpi.com/2409-515X/7/2/21 |
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