Subjective Cognitive Concerns and Attitudes toward Genetic Testing Are Associated with Depressive Symptoms and Quality of Life after Genetic Testing for the Cerebral Cavernous Malformation Common Hispanic Mutation (CCM1)

Purpose: This study aimed to characterize mood and quality of life and to examine the associations of these areas with subjective cognitive concerns and attitudes toward genetic testing for the Common Hispanic Mutation, a gene that has been associated with increased risk for CCM1. Method: Fifty-four adults with previous genetic testing for the Common Hispanic Mutation completed a mail survey that included assessments of the above identified areas. Results: Self-reported depressive symptoms and quality of life did not differ between those with positive and negative genetic test results. The negative group expressed a more favorable attitude toward genetic testing (p p = 0.06). Using generalized linear regression, more subjective cognitive concerns were associated with poorer quality of life and more depressive symptoms (p p Conclusions: Subjective cognitive concerns and negative attitudes toward genetic testing may influence emotional well-being after genetic testing for the Common Hispanic Mutation. Additional research is needed that uses objective neuropsychological measures to understand the associations of subjective cognitive concerns, emotional well-being, and cognitive test performance in individuals with CCM1. There is also a need for research that focuses on protective factors and resiliency following genetic testing for CCM1 and the development of mental health interventions to preempt psychosocial difficulties.

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment

Background:Newborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province,China and is under consideration in other countries,including the United States.As China begins to implement DMD newborn screening (DMD-NBS),there is ongoing discussion regarding the steps forward for follow up care of positively identified patients as well as false positive and false negative results.Data sources:Relevant papers related to DMD-NBS,and NBS in China were reviewed in PubMed.Results:The current state of DMD-NBS is discussed,along with the steps needed to effectively screen infants for this disease in China,recommendations for establishment of follow up care in patients with positive and negative screens,and measurement of patient outcomes.Conclusions:Zhejiang Province,China is ready to implement DMD-NBS.Future challenges that exist for this program,and other countries,include the ability to track patients,assist with access to care,and ensure adequate follow-up care according to evidence-based guidelines.In addition,China's large rural population,lack of specialty providers,and difficulty in educating patients regarding the benefits of treatment create challenges that will need to be addressed.

脑海绵状血管畸形临床诊疗指南概要：血管瘤联盟科学咨询委员会临床专家组基于系统文献评价的共识推荐

背景尽管脑海绵状血管畸形（cerebral cavernous malformation, CCM）的相关研究文献已相当丰富，但在诊断和治疗策略方面仍存在着争议。目的制订CCM诊疗指南。方法作为代表CCM患者和研究的患者支持团体，血管瘤联盟（www.angioma.org）召集了一个包括CCM临床专家在内的多学科写作组来帮助总结现有的CCM临床诊疗相关文献，重点关注5个主题：（1）流行病学和自然病程；（2）遗传检测和咨询；（3）诊断标准和影像学标准；（4）神经外科注意事项；（5）神经内科注意事项。写作组根据预定方案进行了文献回顾和证据评价，最终制定推荐意见，并且确立了共识、争议和知识空白。结果根据方法学标准从1983年1月1日至2014年9月31日期间公开发表的1 270篇文献中筛选出98篇，并确定了另外38篇近期或相关的文献。各主题作者利用这些文献总结了现有知识并形成了23项共识诊疗推荐，同时根据美国心脏协会/美国卒中协会标准进行了推荐强度（效应量）和证据水平（确定性估计）评级。其中，尚无A级证据（因为缺乏随机对照试验），B级证据11项（48%），C级证据12项（52%）；Ⅰ级推荐8项（35%），Ⅱ级推荐10项（43%），Ⅲ级推荐5项（22%）。结论现有证据支持对CCM诊疗的推荐，但这些证据的级别和推荐强度普遍较低，因此需要进一步研究来帮助进行更好的临床实践并更新这些推荐。完整的推荐文档包括引用文献的纳入标准、关于各项推荐更详尽的评判标准以及各种争议和知识空白的总结，同样通过了同行评议并可在线获取（www.angioma.org/CCMGuidelines）。