National Taiwan University (NTU) Hospital’s Newborn Screening Center has worked with hospitals and clinics across Taiwan, conducting screening for around 120,000 newborns between 2014 and 2016 and finding eight babies with spinal muscular atrophy (SMA). Two of the babies have been transferred to a different hospital to receive treatment.
SMA is a recessive genetic disease. According to Chien Yin-hsiu, a doctor at NTU Hospital’s Department of Medical Genetics and Department of Pediatrics, SMA patients may appear no different from healthy children in the first one or two months after their birth, but they will gradually lose the ability to move their limbs, to breath and to swallow, which eventually leads to death, usually around the age of one. However, in some cases, the onset of SMA does not occur until the patient is 10 or 20 years old, or even older.
Through extensive newborn screening, NTU Hospital has proven that SMA can be diagnosed in newborns through such screenings. The research was published in the July issue of the Journal of Pediatrics. Now hospitals in the US and Japan have followed NTU Hospital’s footsteps and started conducting SMA screening for newborns.
Photo: CNA
照片：中央社
According to statistics, if untreated or unaided by ventilators, only 10 percent of children with SMA reach their first birthday. However, children who begin receiving treatment before the onset of the disease may have reduced symptoms and higher survival rates.
(CNA, Translated by Tu Yu-an)
從二○一四年到去年，台大醫院新生兒篩檢中心整合全台醫療院所，為十二萬嬰兒進行篩檢，找到八名患有脊髓型肌肉萎縮症的嬰兒，並轉介其中兩人進行治療。
脊髓型肌肉萎縮症是隱性遺傳疾病。台大醫院基因學部暨小兒部主治醫師簡穎秀說，患童剛出生一、兩個月內可能很正常，但四肢會漸漸不能動，呼吸跟吞嚥也會有困難，之後約在一歲時死亡，但有些病患也可能在十歲或二十歲以後才會發病。
台大團隊透過大規模篩檢證實脊髓型肌肉萎縮症患嬰可經由篩檢確認，成果已發表於今年七月的《小兒科期刊》。現在美國、日本團隊也都追隨台大腳步，為新生兒進行該病症的篩檢。
根據統計，罹病的孩子如果沒有治療或使用呼吸器，九成活不過一歲，但若在發病前開始藥物治療，可延緩症狀並提升孩子的活存率。
(中央社)
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