Setsuko Hasegawa1, Satoko Kumada2, Naoyuki Tanuma3, Atsumi Tsuji-Hosokawa1, Ayako Kashimada1, Tomoko Mizuno1, Kengo Moriyama1, Yuji Sugawara4, Ikuko Shirai2, Yohane Miyata2, Hiroya Nishida2, Hideaki Mashimo2, Takeshi Hasegawa5, Takatoshi Hosokawa6, Hiroaki Hisakawa6, Mitsugu Uematsu7, Akio Fujine8, Rie Miyata9, Hiroshi Sakuma3, Kenichi Kashimada1, Kohsuke Imai1, Tomohiro Morio1, Masaharu Hayashi3, Shuki Mizutani1, Masatoshi Takagi10. 1. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. 2. Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan. 3. Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan. 4. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan; Department of Pediatrics, Soka Municipal Hospital, Soka, Japan. 5. Department of Pediatrics, Soka Municipal Hospital, Soka, Japan. 6. Department of Pediatrics, Kochi University, Nankoku, Japan. 7. Department of Pediatrics, Tohoku University, Sendai, Japan. 8. Department of Pediatrics, Fukui Prefectural Hospital, Fukui, Japan. 9. Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan; Department of Pediatrics, Tokyo Kita Medical Center, Tokyo, Japan. 10. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address: m.takagi.ped@tmd.ac.jp.
Abstract
BACKGROUND: Ataxia telangiectasia is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curative options for the neurological symptoms are limited. Recent studies have demonstrated short-term improvement in neurological symptoms with betamethasone therapy. However, the long-term and adverse effects of betamethasone are unclear. The aim of this study was to evaluate the long-term effects, benefits, and adverse effects of low-dose betamethasone in ataxia telangiectasia. METHODS: Six patients with ataxia telangiectasia received betamethasone at 0.02 mg/kg/day for two years. After cessation of betamethasone, the patients were observed for two additional years. Neurological assessments were performed, and adverse effects were monitored every three months throughout the four-year study period. RESULTS: Transient improvement of neurological symptom was observed in five of the six patients. However, after two years betamethasone treatment, only one of the six patients showed a slight improvement in the neurological score, one patient showed no change, and the neurological scores of the remaining four patients deteriorated. After the cessation of betamethasone treatment, neurological symptoms worsened in all patients. As an adverse effect of betamethasone, transient adrenal dysfunction was observed in all cases. CONCLUSIONS: Although these findings are in agreement with previous studies suggesting that short-term betamethasone treatment transiently benefits patients with ataxia telangiectasia, the long-term benefits and risks should be carefully considered.
BACKGROUND:Ataxia telangiectasia is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curative options for the neurological symptoms are limited. Recent studies have demonstrated short-term improvement in neurological symptoms with betamethasone therapy. However, the long-term and adverse effects of betamethasone are unclear. The aim of this study was to evaluate the long-term effects, benefits, and adverse effects of low-dose betamethasone in ataxia telangiectasia. METHODS: Six patients with ataxia telangiectasia received betamethasone at 0.02 mg/kg/day for two years. After cessation of betamethasone, the patients were observed for two additional years. Neurological assessments were performed, and adverse effects were monitored every three months throughout the four-year study period. RESULTS: Transient improvement of neurological symptom was observed in five of the six patients. However, after two years betamethasone treatment, only one of the six patients showed a slight improvement in the neurological score, one patient showed no change, and the neurological scores of the remaining four patients deteriorated. After the cessation of betamethasone treatment, neurological symptoms worsened in all patients. As an adverse effect of betamethasone, transient adrenal dysfunction was observed in all cases. CONCLUSIONS: Although these findings are in agreement with previous studies suggesting that short-term betamethasone treatment transiently benefits patients with ataxia telangiectasia, the long-term benefits and risks should be carefully considered.
Authors: Ana Méndez-Echevarría; María Belén Caminoa; Teresa Del Rosal; Inmaculada Casas; Francisco Pozo; Samuel Ignacio Pascual-Pascual; Mar García-Romero; Carmen Cámara; Cristina Calvo Journal: Viruses Date: 2021-05-09 Impact factor: 5.048