Agenesis of the corpus callosum: symptoms consistent with developmental disability in two siblings

Agenesis of the corpus callosum (AgCC) is a congenital disorder that disrupts the development of neurological structures connecting the right and left hemispheres of the brain. In addition to neurological symptoms, many individuals with AgCC demonstrate marked deficits in social, communication, and adaptive skills. This paper presents two case studies of congenital AgCC in siblings with socioemotional and behavioral symptoms consistent with developmental disability, but with notably different symptom presentations and clinical needs. Conclusions from these cases suggest that unique symptom profiles of individuals with AgCC warrant careful consideration for referral to appropriate academic and habilitative services.     

Vision related quality-of-life among patients with traumatic or non-traumatic ocular disease and its association with the Rights of Persons with Disabilities Act: Unveiling-the-hidden

Purpose:To assess vision-related quality of life (VrQoL) in cases with visual loss after ocular trauma (OT) or non-traumatic ocular disease (NTOD) using the National Eye Institute’s 25-Item Visual Function Questionnaire 25 (VFQ-25) and its association with visual disability % (VD%) based on the Rights of Persons with Disabilities (RPwD) Act, 2016.Methods:This was a prospective observational study conducted among cases with ocular morbidity in either or both eyes with a visual acuity of ≤6/24. VFQ-25 questionnaire was administered to measure QoL scores. Statistical analysis was done using the Statistical Package for the Social Sciences (SPSS) version 23. P < 0.05 was taken as significant.Results:Eighty-eight respondents completed the questionnaire. Mean age of participants was 40.272 ± 9.35 years (range: 23–55 years). Forty-three (48.9%) and 45 (51.1%) participants had OT and NTOD, respectively. The most common cause was traumatic optic neuropathy (21.6%) followed by corneal causes (19.4%). Low visual QoL scores were reported in all the cases (57.52 ± 16.08). Between OT and NTOD, a significant difference in terms of age (P = 0.001) and general vision (P = 0.03) was seen. Lowest scores were for driving. Based on VD%, 77 cases had ≤40 and the rest had >40% VD with a significant difference in overall mean scores (P = 0.03), specifically in domains of general vision (P = 0.00), near activities (P = 0.00), and driving (P = 0.007). QoL was decreased in each subscale of ≤40%VD group, who faced the same predicament everywhere as by the cases with more disability.Conclusion:Ocular morbidity is associated with low QoL, predominantly in domains like general vision, near activities and driving. The RPwD Act leaves out a huge population with VD without any government benefits. One might need to consider other vision-related factors also to provide them with social, psychological, and employment benefits.     

冠心病自我管理量表的开发和评价

目的 开发冠心病自我管理量表,并进行信度、效度检验.方法 在慢性病自我管理理论和冠心病循证医学行为学证据的基础上建立量表条目库,由专家小组评议后建立初量表.随即对10例患者进行访谈并再次进行专家评议建立预测问卷,其后用预测问卷对209例患者进行正式调查.采用因子分析法、相关系数法等再次进行条目筛选确定最终量表,最后对最终量表进行全面心理测量学检测.结果 量表各项指标均达到心理测量学标准:重测信度(ICC)=0.910;内部一致性信度(Cronbach's α)=0.913;效标关联效度r=0.271～0.573;结构效度因子分析结果与预想结构吻合;健康教育前后反应度示差异有统计学意义(P＜0.01);可接受度测试回收率93.4%,有效率97.2%.结论 冠心病自我管理量表是一种伞新的具有实用性、科学性的冠心病自我管理行为测量工具,可用于二级预防实践.     

脑卒中病人发生残疾的影响因素分析

  目的  分析辽宁农村地区脑卒中患者残障现状及其相关危险因素,为脑卒中后减少残障发生提供理论依据。  方法  2017年9月至2018年5月按照分层整群随机抽样方法在辽宁省农村地区随机选取四个县19个村庄,对年龄 ≥ 40岁的731例脑卒中患者进行残障现状及其相关危险因素调查,mRS评分3分及以上定义为残障。  结果  辽宁省农村40岁及以上脑卒中患者残障率为13.41 %,缺血性卒中和出血性卒中分别为11.96 % 和21.86 %。男性缺血性卒中残障率随着年龄增加而升高,男性缺血性卒中mRS平均分高于女性。老龄化和性别是卒中后残障的主要危险因素。多因素logistic回归分析显示,男性（OR = 1.90,95 % CI = 1.18～3.05）、家庭年均总收入高（OR = 0.39,95 % CI = 0.18～0.83）、超重或肥胖（OR = 0.47,95 % CI = 0.30～0.73）、吸烟（OR = 0.44,95 % CI = 0.24～0.80）是患脑卒中残障的影响因素。  结论  辽宁省农村地区40岁以上人群脑卒中后残障率高,亟待早期发现并控制相关不良影响因素,采取有效且针对性强的措施,以减少卒中后残障发生概率,综合提高卒中患者的生活质量。     

Louisiana's “Medically Futile” Unborn Child List: Ethical Lessons at the Post-Dobbs Intersection of Reproductive and Disability Justice

Ableist attitudes and structures are increasingly recognized across all sectors of health care delivery. After Dobbs, novel questions arose in the United States concerning how to protect reproductive autonomy while avoiding discrimination against and devaluation of disabled persons. In this essay, we examine the Louisiana Department of Health's emergency declaration, “List of Conditions That Shall Deem an Unborn Child ‘Medically Futile,’” issued August 1, 2022. We raise a number of medical, ethical, and public health concerns that lead us to argue that the declaration should be rescinded. Analysis of this ethically objectionable declaration provides valuable lessons about how to uphold both reproductive and disability justice in a post-Dobbs landscape.     

Diagnóstico y tratamiento precoz de la hipoacusia unilateral o asimétrica en la infancia: recomendaciones CODEPEH

The aim of this document is to improve the management and the treatment of unilateral or asymmetrical hearing loss in children. One in one thousand newborn infants has unilateral hearing loss and this prevalence increases with age, due to cases of acquired and delayed-onset hearing loss.Although the impact on the development and learning processes of children of these kinds of hearing loss have usually been minimized, if they are not treated they will impact on language and speech development, as well as overall development, affecting the quality of life of the child and his/her family.The outcomes of the review are expressed as recommendations aimed at clinical diagnosis and therapeutic improvement for unilateral or asymmetrical hearing loss.     

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes.     

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

BackgroundMutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. EEF1A2 protein is involved in protein synthesis, suppression of apoptosis, regulation of actin function and cytoskeletal structure. To date, only sixteen patients with EEF1A2 mutations have been reported.Case reportWe described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies. Most clinical features are shared by all individuals with EEF1A2 mutation, but unlike others reports our patient showed a mild epileptic phenotype: epilepsy developed in late infancy and was well-controlled with antiepileptic drugs. Moreover, at the onset of epilepsy, interictal wake/sleep electroencephalograms showed typical pattern that disappeared with age.ConclusionThis report focused that EEF1A2 mutations should be considered not only in patients with epileptic encephalopathy, but also in those with less severe epilepsy. A typical EEG pattern may be a biomarker for EEF1A2 mutation, but further investigations and longitudinal clinical observations are required.