TWENTY-YEAR FOLLOW-UP OF NEWBORN SCREENING FOR PATIENTS WITH MUSCULAR DYSTROPHY

被引：46

作者：

Chung, Jeffrey ^{[1
]}

Smith, Andrea L. ^{[1
]}

Hughes, Sarah C. ^{[1
]}

Niizawa, Gabriela ^{[1
]}

Abdel-Hamid, Hoda Z. ^{[2
]}

Naylor, Edwin W. ^{[3
]}

Hughes, Timothy ^{[4
]}

Clemens, Paula R. ^{[1
,5
]}

机构：

[1] Univ Pittsburgh, Dept Neurol, S520 Biomed Sci Tower,200 Lothrop St, Pittsburgh, PA 15213 USA

[2] Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15260 USA

[3] Med Univ S Carolina, Dept Pediat, Charleston, SC 29425 USA

[4] Wake Forest Univ, Bowman Gray Sch Med, Dept Internal Med, Winston Salem, NC 27103 USA

[5] Dept Vet Affairs Med Ctr, Neurol Serv, Pittsburgh, PA USA

来源：

MUSCLE & NERVE | 2016年 / 53卷 / 04期

关键词：

Becker muscular dystrophy; Duchenne muscular dystrophy; family planning; newborn screening; parental attitudes; patient attitudes; public health policy; PARENTAL ATTITUDES; DUCHENNE; RESTORATION; DIAGNOSIS; PROTEINS; PRO051; GENE;

D O I：

10.1002/mus.24880

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Introduction: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. Methods: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. Results: All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety. Conclusions: There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.

引用

页码：570 / 578

页数：9

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