Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)—stretches of duplicated or deleted DNA. A sample of 125 children with an SCT were compared with 181 children of normal karyotype who had been given the same assessments. First, we compared the groups on measures of overall CNV burden: number of CNVs, total span of CNVs, and likely functional impact (probability of loss‐of‐function intolerance, pLI, summed over CNVs). Differences between groups were small relative to within‐group variance and not statistically significant on overall test. Next, we considered whether a measure of general neurodevelopmental impairment was predicted by pLI summed score, SCT versus comparison group, or the interaction between them. There was a substantial effect of SCT/comparison status but the pLI score was not predictive of outcomes in either group. We conclude that variable presence of CNVs is not a likely explanation for the wide phenotypic variation in children with SCTs. We discuss methodological challenges of testing whether CNVs are implicated in causing neurodevelopmental problems.     

Language processing from the perspective of electrical stimulation mapping

ABSTRACT

Electrical Stimulation (ES) is a neurostimulation technique that is used to localize language functions in the brain of people with intractable epilepsy and/or brain tumors. We reviewed 25 ES articles published between 1984 and 2018 and interpreted them from a cognitive neuropsychological perspective. Our aim was to highlight ES as a tool to further our understanding of cognitive models of language. We focused on associations and dissociations between cognitive functions within the framework of two non-neuroanatomically specified models of language. Also, we discussed parallels between the ES and the stroke literatures and showed how ES data can help us to generate hypotheses regarding how language is processed. A good understanding of cognitive models of language is essential to motivate task selection and to tailor surgical procedures, for example, by avoiding testing the same cognitive functions and understanding which functions may be more or less relevant to be tested during surgery.     

Program for generation of three-dimensional finite element mesh from magnetic resonance imaging scans of human limbs

A PC-AT based program for conversion of magnetic resonance imaging (MRI) scans into coordinate input for finite element mesh generation is presented. The program is written in Borland C + +3.1 and is compatible with every general-use personal computer, permitting the use of MS-DOS 3.0 or higher with a Microsoft mouse. The program is menu driven and does not demand specialised knowledge from the user. The system and memory requirements are minimal -- 640 kB RAM -- and it runs as a stand-alone program. A second program allows the construction of a three-dimensional representation of the limb sub-structure and generation of the FE mesh from the converted cross-sectional scans. The capabilities of the program are demonstrated using cross-sectional scans of the upper arm; the fat, muscle and bone contours were obtained to a very high level of precision (0.4 mm).     

An on-line system for acquisition and processing of cerebral blood flow data

Regional cerebral blood flow is measured by monitoring the clearance from the brain of the gamma emitting radioisotope ¹³³Xe following an intracarotid artery bolus injection. On-line data analysis, which is performed on a PDP $\text{12}\text{30}$ digital computer, involves exponential stripping to isolate grey and white matter flows and integration of the clearance curves to infinity to enable the mean flow to be calculated. The data is displayed in real time and stored on the PDP 12 Linc tapes as a permanent record.     

44例5~7岁痉挛型脑瘫儿童言语流利性障碍的临床特征

目的 基于看图说话语言任务,分析上海市5~7岁痉挛型脑瘫儿童言语流利性障碍的临床特征,为解决言语不流利性问题提供参考依据。方法 2020年11—12月在上海地区选取符合纳入标准的5~7岁痉挛型脑瘫儿童与普通儿童各44例为研究对象,以《做家务》主题图片作为测试材料收集语音样本,比较两组儿童在看图说话语言形式下语速、停顿、拖延与重复的言语流利性特征差异。结果 痉挛型脑瘫儿童的言语速率、构音速率得分低于普通儿童,差异有统计学意义(t＝-44.288、-25.665,P＜0.05);而异常停顿次数、异常停顿时长、拖延次数、拖延时长与重复次数得分高于普通儿童,差异有统计学意义(t=28.891、39.188、28.960、18.393、26.246,P＜0.05)。结论 5~7岁痉挛型脑瘫儿童在连续语音过程中存在典型的言语流利性障碍特征,表现为语速偏慢、异常停顿、异常拖延与异常重复等问题。     

Quality and Safety in Long-Term Care in Ontario: The Impact of Language Discordance

ObjectivesThis study compared quality indicators across linguistic groups and sought to determine whether disparities are influenced by resident-facility language discordance in long-term care.DesignPopulation-based retrospective cohort study using linked databases.Setting and ParticipantsRetrospective cohort of newly admitted residents of long-term care facilities in Ontario, Canada, between 2010 and 2016 (N=47,727). Individual residents' information was obtained from the Resident Assessment Instrument Minimum Data Set (RAI-MDS) to determine resident's primary language, clinical characteristics, and health care indicators.MeasuresMain covariates of interest were primary language of the resident and predominant language of the long-term care facility, which was determined using the French designation status as defined in the French Language Services Act. Primary outcomes were a set of quality and safety indicators related to long-term care: worsening of depression, falls, moderate-severe pain, use of antipsychotic medication, and physical restraints. Multivariable logistic regression models were used to assess the impact of resident's primary language, facility language, and resident-facility language discordance on each quality indicator.ResultsOverall, there were few differences between francophones and anglophones for quality and safety indicators. Francophones were more likely to report pain (10.9% vs 9.9%; P = .001) and be physically restrained (7.3% vs 5.2%; P < .001), whereas a greater proportion of anglophones experienced worsening of depressive symptoms (24.0% vs 22.9%; P = .001). However, quality indicators were generally worse for francophones in Non-Designated facilities, except for pain, which was more commonly reported by francophones in French-Designated facilities. Anglophones were more likely to be physically restrained in French-Designated facilities (6.7% vs 5.1%; P < .001).Conclusions and ImplicationsFor francophones, quality indicators tended to be worse in the presence of resident-facility language discordance. However, these findings did not persist after adjusting for individual- and facility-level characteristics, suggesting that the disparities observed at the population level cannot be attributed to linguistic factors alone.     

幼儿语言发育迟缓的家庭环境危险因素

目的 分析幼儿语言发育迟缓(LDD)的家庭环境因素,为LDD早期干预提供依据。 方法 选择2020年7月28日—2021年1月27日于北京协和医院儿童保健门诊诊断为LDD的55例16～30个月龄幼儿作为病例组,筛选同期正常儿保查体的同年龄组71例幼儿作为对照组,使用中文早期语言与沟通发展量表普通话版作为标准化评估工具,并对父母和主要照养人的文化水平、家庭环境、出生情况进行问卷调查,分析各因素与幼儿语言发育落后的相关性。 结果 两组家庭环境有方言情况差异无统计学意义(P>0.05)。与对照组相比,LDD组独生子女家庭比例少,父母及主要照养人本科及以上文化程度稍少,保姆或(外)祖父为主要照养人比例更多,幼儿屏幕时间较长,开始观看屏幕月龄更小,更多幼儿的父母陪伴时间＜2 h/d、屏幕时间≥2 h/d、开始观看屏幕月龄＜12月,差异有统计学意义(P<0.05)。Logistic回归分析显示:开始观看屏幕月龄＜12月(OR=9.562,95%CI:3.106～29.437)、屏幕时间≥2 h/d (OR=3.222,95%CI:1.169～8.884)、主要照养人是(外)祖父或保姆(OR=7.034,95%CI:1.930～25.634)是幼儿语言发育落后的危险因素(P<0.05)。 结论 屏幕暴露年龄过早、屏幕暴露过长以及(外)祖父或保姆作为主要照养人是幼儿语言发育迟缓的危险因素。应避免婴幼儿过早或过长时间观看媒体屏幕,鼓励父母照料幼儿。     

18~36月龄语言发育迟缓儿童的神经发育水平特点

目的 回顾性分析18~36月龄语言发育迟缓儿童神经发育特点,为后期评估、干预提供理论依据。方法 选取苏州大学附属儿童医院2018-2019年因语言问题首次就诊的18~36月龄婴幼儿,根据“0~6岁儿童神经心理发育量表”及“早期语言发育进程量表”结果分为单纯语言发育迟缓组与多能区发育迟缓组,比较两组儿童各能区发育、早期语言水平,以及孤独症筛查阳性检出率。结果 共有700例婴幼儿入选,两组间月龄(t=-1.73,P=0.09)、性别(χ²=2.06,P=0.15)差异无统计学意义;两组间年龄构成比存在差异(χ²=9.124 ,P=0.01)。多能区发育迟缓组在语言、大运动、精细运动、适应性及社交能区均更为落后(t=15.08,20.26,25.68,18.76,39.79,P＜0.001)。在早期语言水平方面,多能区发育迟缓组在总的早期语言发展水平、语音和语言表达、听觉感受理解、视觉相关语言方面较单纯语言发育迟缓组均更低(t=8.20,10.23,9.18,11.39,P＜0.001)。单纯语言迟缓组语言能区的落后与精细运动、适应性及社交DQ存在相关性(r=0.127,0.146,0.238,P＜0.001),而多能区发育迟缓组语言能区的落后与各能区DQ均存在相关性(r=0.154,0.392,0.390,0.435,P＜0.001);多能区发育迟缓组孤独症筛查阳性检出率更高(χ²=61.69,105.17,P＜0.05)。结论 早期语言发育迟缓儿童合并多能区落后时存在语言发育的显著落后,应进一步完善检查,注意识别神经发育障碍性疾病。     

早期视屏暴露对儿童语言发育的影响研究

目的 分析儿童早期视屏暴露对语言发育的影响,为预防儿童语言发育迟缓提供参考依据。方法 采用病例对照研究于2019年1—12月用Gesell发育诊断量表对病例组(语言发育迟缓)54名儿童、对照组(发育正常)56名儿童进行发育评估,全体儿童年龄范围1~5岁;使用自拟调查问卷“儿童早期视屏暴露情况调查表”对所有参与调查儿童的主要抚养人进行问卷调查。结果 对照组儿童手机/iPad暴露的比例和时长均高于电视,病例组儿童暴露于手机/iPad和电视的比例分别占88.9%、81.5%,明显高于对照组(71.4%、57.1%),差异均有统计学意义(χ²=5.238、4.493,P＜0.05);病例组儿童暴露于手机/iPad和电视的时长分别为38.0(15.0,60.0) min/d、35(17.0,55.0) min/d,高于对照组[25.0(10.0,45.0) min/d、20(8.0,40.0) min/d],差异有统计学意义(Z=2.936、2.468,P＜0.05)。Logistic回归分析结果显示,儿童每日观看手机/iPad的时间≥30min/d是语言发育迟缓的危险因素(OR=2.431,95%CI:3.188~12.723,P＜0.01)。结论 儿童早期暴露于手机/iPad时间过长是语言发育迟缓的危险因素,家长要严格限制儿童每日接触手机等电子视屏的时间,增加亲子交流互动,促进儿童健康。     

儿童常见发育异常性疾病的情绪行为与社交功能问题

孤独症谱系障碍(ASD)、注意缺陷多动障碍(ADHD)和语言障碍(LD)等神经发育障碍性疾病是儿童常见的发育异常性疾病,常伴心理行为与社交功能问题,早期识别、诊断和早期针对性的干预措施,对改善其预后具有重要意义。本文就儿童常见发育异常性疾病的心理行为与社交功能进行介绍,供相关专业人员参考。