首发精神障碍家庭照顾者经历的系统评价

目的：系统评价首发精神障碍家庭照顾者的经历，为患者早期康复及照顾者心理健康问题的干预提供循证依据。方法：计算机检索The Cochrane Library、Ovid 、PubMed、Embase、Web of Science、CBM、CNKI、VIP和WANFANG DATE 数据库，检索时限均从建库至2021年7月31日，使用“JBI循证卫生保健中心质性研究质量评价标准”评价符合纳入标准的文献，并采用汇集性整合法对研究结果进行整合。结果：纳入12篇文献，提炼出60个研究结果，整理成8个类别，得出3个整合结果。分别是多维度的挑战、成长或缺如的角色结局、急需的社会支持。结论：亟需提高全民心理健康素质及去精神障碍疾病污名化，营造患者及家属无障碍化就医环境；关注家庭照顾者早期心理健康的干预，满足其社会支持的需要，提高该类人群应激应对能力，促进照顾者心理康复。     

功能性胃肠病量表在中医药领域的应用现状及策略分析＊

功能性胃肠病（Functional gastrointestinal disorder，FGID）的临床结局测评一直备受关注，而功能性胃肠病量表作为有效的临床结局测评手段之一，在中医药领域的运用越来越广泛。本文对功能性胃肠病量表在中医药领域的应用现状进行了综述，分析了存在的问题以及提出了具体的应对策略，并对今后FGIDs量表在中医药领域的的发展进行展望。     

加拿大问题赌博指数中文版的效度和信度

目的:评估加拿大问题赌博指数中文版(CPGI-C)的效度和信度。方法:选取43例匿名戒赌会成员和202例正常成人为研究对象,将其随机分为两半,分别进行探索性因子分析和验证性因子分析;以赌博相关认知量表(GRCS-C)、Barratt冲动性人格问卷(BIS-11)、抑郁自评量表(SDS)、网络成瘾量表修订版(CIAS-R)和DSM-IV多重反应问卷(DSM-IV-MR)作为效标工具;以受试者工作特征曲线(ROC)评估量表区分问题赌博者的特异度与灵敏度。2周后有5例匿名戒赌会成员和31例正常成人完成重测。结果:CPGI-C的问题赌博指数(PGSI)分量表共9个条目,探索性因子分析得出1个主成分因子,可解释总方差的74.3%;验证性因子分析显示,单因子结构模型的拟合指标良好(χ~2=2.087,CFI=0.926,TLI=0.963,GFI=0.926,IFI=0.978,NFI=0.958, RMSEA=0.094,SRMR=0.032);CPGI总分与各效标量表的总分均呈正相关(r=0.48～0.82,均P<0.001);ROC曲线下面积为0.962,划界分为9.5。CPGI-C的...     

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.     

COX20基因变异线粒体复合物Ⅳ缺乏症相关的遗传性周围神经病4例病例系列报告及文献复习

背景：原发性线粒体病具有高度的临床和遗传异质性，其中周围神经是线粒体病的常见受累器官之一。 目的：总结COX20基因变异相关周围神经病的临床表型及遗传学特征。 设计：病例系列报告。 方法：回顾性收集2018年5月至2020年5月复旦大学附属儿科医院诊治的COX20基因变异相关周围神经病患儿的临床资料，总结其临床表现、基因检测结果及治疗效果，并以“COX20”、“线粒体复合物Ⅳ缺乏症（Complex Ⅳ deficiency）”为关键词检索中英文数据库。检索时间均为从建库至2021年12月。总结已报道COX20基因变异与临床表型的关系。 主要结局指标：临床表型和COX20基因变异位点。 结果：4例患儿纳入分析，男、女各2例，其中3例自幼运动发育落后。4例均在儿童期起病，均以行走不稳为首发症状。肌电图均提示多发性周围神经损害改变，感觉神经轴索受累为主。4例患儿均携带COX20基因复合杂合变异，包括错义变异2个，无义变异和移码变异各1个，其中移码变异c.262delG(p.E88Kfs*35)尚未见报道。文献复习目前共报道COX基因变异18个家系22例患儿（包括本文病例）,起病中位年龄为5（1.0~17）岁，22例均以行走困难或步态不稳起病，11例（50.0%）有精神运动发育迟滞，病程中14例(63.6%)出现构音障碍，14例(63.6%)出现肌力下降和/或足部畸形，8例（36.4%）出现共济失调，6例(27.3%)出现肌张力障碍，5例（22.7%）存在认知倒退等。21例患儿行神经传导及肌电图检查，19例(90.5%)提示多发性周围神经病变。头颅（18例）及脊髓（10例）MR检查提示，脊髓萎缩4例（40%），小脑萎缩4例（22.2%）。9例患儿已无法独立行走，丧失独立行走能力中位年龄为10（7~21）岁。目前共报道9个变异位点，4种变异类型，其中错义变异5个，剪切变异2个，无义变异和移码变异各1个。 结论：COX20基因变异患者多早期起病，以周围神经系统病变为主要表现，可合并构音障碍、共济失调、肌张力障碍、认知倒退等，病情逐渐进展，致残率高。COX20基因变异类型以错义变异最常见。     

Fathers of children with autism spectrum disorder: Their perceptions of paternal role a predictor of caregiving satisfaction,self-efficacy and burden

BackgroundThe positive effect of a father’s involvement in children’s upbringing is now recognised. However, research on fathers raising children with autism spectrum disorder (ASD) are still few. This study examines the relationship between the perception, fathers of children with ASD have of the importance of their role in the development of their children and the feelings (self-efficacy, caregiving burden, satisfaction) they express about their parenting experience.MethodSixty-three Swiss Italian fathers of children with ASD completed The Role of the Father Questionnaire (ROFQ), three sub-scales of the Caregiver Survey, a subtest of the Child Adjustment and Parent Efficacy Scale and a home-made questionnaire measuring Perceived Social Support.ResultsThe results from hierarchical multiple regression analyses show that the importance that fathers attach to the paternal role predicts positively their caregiving satisfaction and their feeling of self-efficacy. The children’s challenging behaviours predict positively the caregiving burden whereas the assessment of social support predicts it negatively.ConclusionsThe perception of the importance of the paternal role needs to be considered in the support offered to families with a child with ASD. A better understanding of the fathers’ feelings could be of value for the programmes.     

Functional connectivity of the attention networks is altered and relates to neuropsychological outcomes in children with prenatal alcohol exposure

Cognitive and functional brain alterations can occur in children with prenatal alcohol exposure (PAE). We examined the functional connectivity (FC) among regions within and between attention networks, and whether inter- and intranetwork FC moderated cognition in children with PAE (n = 37; age 12.8 ± 2.8 years) and nonexposed controls (n = 40; age 13.2 ± 2.8 years). Participants completed standardized attention and executive functioning tasks and resting state functional MRI. Inter- and intra-network FC and graph-theoretical metrics were calculated among attention network regions. Relative to controls, PAE was associated with reduced FC between the left temporoparietal junction and left ventral frontal cortex and anterior insula/frontal operculum (aI/fO), and between the left intraparietal sulcus and bilateral aI/fO. PAE was associated with increased FC between the right precuneus and intraparietal lobes, the right anterior prefrontal cortex and left ventral frontal cortex and aI/fO, and the left thalamus and dorsal frontal cortex. Graph-theoretical metrics did not differ by group. FC predicted cognitive performance, negatively in the children with PAE and positively in controls. Increased intra-network together with reduced internetwork FC suggests inefficient network specialization and impaired long-range FC among attention network regions after PAE. Results further suggest that those alterations may underlie attention and executive dysfunction in children with PAE.