New type of spinocerebellar degeneration syndrome in a northern Swedish population

A follow-up investigation of 24 patients with hereditary spasticity in a geographically isolated northern Swedish population, first examined by Böök (1953), was performed. Fifteen of them were dead. During the period from 1950–1972 five new cases of spastic syndromes were diagnosed in this population. The patterns of clinical symptoms and the genetic associations between the new and 24 previously reported patients with spastic syndromes were analyzed. Three of the five new cases had a specific syndrome. This starts in the first years of life with ataxia, which is followed by dysarthria, spasticity and jerky intention tremor. Initially the patients are mentally normal, but there seems to be slight mental deterioration through the years. The disorder is a progressive spinocerebellar degeneration with autosomal recessive inheritance.     

People with intellectual disability, sensory impairments and behaviour disorder: a case series

Background Sensory impairments (SIs) are more prevalent in people with intellectual disability (ID). Both conditions lead to higher rates of emotional and behavioural problems than in the general population. The identification of psychiatric disorders in this group can be difficult, particularly in those with severe ID and limited communication skills. Method The present paper presents a series of 18 case reports of individuals with ID, SI and behavioural problems. Results The majority of cases were young male caucasians with congenital rubella syndrome and autistic spectrum disorder, referred because of self‐injurious behaviour (SIB) or aggression. Nine cases were treated with autidepressants, five underwent environmental changes and two had medication reduced. All showed some improvement. Conclusions The benefits of comprehensive assessments, the use of standardized assessment tools and trials of treatments are discussed in the context of making psychiatric diagnoses.     

Epilepsy and Recursive Consciousness with Special Attention to Jackson's Theory of Consciousness

Summary: John Hughlings Jackson's theory of consciousness has been reconsidered. The author stressed that his uniqueness as a neuroscientist lay in his keen interest in the recursive nature of human consciousness. Two clinical symptoms of interest to Jackson were discussed: recurrent utterances and mental diplopia. Recurrent utterances were believed to represent an exceptional state, in which the unconscious process in speech production, otherwise destined to be swept away automatically, became manifest and observable. Jackson regarded mental diplopia as a revelation of otherwise inaccessible duality of all healthy mental actions. Therefore, he supposed that the essence of recursive consciousness resided in a transformation of multiple, multidirectional, unconscious processes into a linear, unidirectional process     

新疆维吾尔自治区精神障碍流行病学调查及影响因素研究

背景经济社会的发展、生活方式的转变及新型冠状病毒感染疫情的发生都对人群心身健康水平产生影响,进而可能使精神障碍的患病情况发生变化。然而,目前新疆维吾尔自治区的精神障碍流行病学调查资料尚不完善。目的 调查新疆维吾尔自治区北部（简称北疆）≥15岁人群的常见精神障碍患病率及影响因素,并同新疆维吾尔自治区南部（简称南疆）相关资料进行汇总与对比,得出全疆常见精神障碍患病情况,为制定相应的精神卫生规划提供科学依据。方法 于2021年11月至2022年7月,采用多阶段分层随机抽样法在北疆选取居民3 853例为研究对象。以社会人口学调查表、自评量表（12项一般用健康问卷、心境障碍问卷、90项症状清单等）及他评量表（汉密尔顿抑郁量表、贝克-拉范森躁狂量表、简明精神病量表等）作为调查工具,以国际疾病分类第10版（ICD-10）中的精神与行为障碍分类为诊断标准,由两名具有≥5年工作经验的精神科医师对纳入居民进行精神障碍诊断,诊断不一致者由精神科主任或副主任医师进行二次诊断。结果 北疆地区常见精神障碍时点患病率为9.71%(374/3 853),年龄调整率为10.07%;全疆常见精神障碍时点患病率为9.69%...     

“Occult” hydrocephalus in children

The authors describe 32 children between 2 and 15 years of age who had hydrocephalus that was only clinically manifest late in life. The clinical picture of these children did not suggest an obvious increase in intracranial pressure; instead, the presenting signs were rather nonspecific and included macrocrania, mild psychomotor retardation, unsteady gait, increased muscle tone and deep tendon reflexes in the lower limbs, impaired ocular movement, epilepsy, and endocrine dysfunction. Their histories suggest the possible causes of the ventricular dilation in about one third of the cases were: perinatal hemorrhage, leptomeningitis, neurofibromatosis, and untreated aneurysm of the great vein of Galen. In 20 patients, however, no positive anamnestic findings were reported. CT scan revealed triventricular dilation in more than half of the cases; tetraventricular dilation was present in 6 patients, and biventricular dilation in the remaining subjects. All children underwent CSF shunting, which resulted in complete recovery in all but 2 cases. The most frequently recorded surgical complication was postoperative subdural effusion (7 subjects), which required surgical treatment in only 2 cases.Presented at the 15th Annual Scientific Meeting of the International Society for Pediatric Neurosurgery, New York, 1987     

神经症的性压抑与心理因素的相关性研究

研究神经症患者潜在人格与性压抑和情绪的相关性.方法:对124例神经症患者进行了婚姻质量问卷(性生活、婚姻质量部份)、抑郁自评量表(以下简称SDS)、焦虑自评量表(以下简称SAS)及自编的性生活调查问卷、主题统觉测验(以下简称TAT)测评.结果:1、神经症伴性障碍组TAT潜在人格与对照组相比,在支配、性、援助、躯体社会攻击、财产破坏欲求、自我攻击、情绪变化欲求和情绪言语攻击性、躯体社会攻击、引诱、缺乏、丧失、灾害、丧失支持、躯体伤害压力上均较对照组显著增高,而成就欲求下降(P<005-001);与神经症无性障碍组相比,神经症伴性障碍组的成就、支配、教养、性欲求得分显著增高,情绪言语攻击欲求得分下降(P<001～005);2、神经症伴性障碍组的性生活质量低,性频度、性后快感均低.3、SDS、SAS与TAT中的负性欲求呈明显的相关性,性行为调查与婚姻质量量表中的性行为呈正相关.结论:神经症的性压抑与其潜在人格有密切的相关性.     

Reciprocal translocation mosaicism in man

We report on an8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.     

Cognitive and motor skills in achondroplastic infants: Neurologic and respiratory correlates

Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal so-matosensory evoked potentials, and delayed motor development. Abnormal polysomno-gram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.     

中专学生网络使用情况与社会心理因素的关系分析

目的探讨中专学生网络使用情况及与社会心理因素之间的关系，为解决网络成瘾问题提供理论依据。方法选取中专学生231人作为研究对象，收回有效问卷229份（有效率为99．13％）。其中男生97人，女生134人，平均年龄18±1岁。使用一般资料调查表、网络成瘾量表和症状自评量表对学生进行测试。结果判断为轻度网络成瘾者占受试的6．98％，判断为网络使用过度占受试的14．41％。网络成瘾量表得分与男性、计算机专业相关，与SCL-90各因子之间均成正相关，均有统计学显著差异。多因素线性回归分析发现：男性、计算机专业、精神病性因子和敌对性是影响网络使用的危险因素。结论中专学生网络使用情况与心理社会因素关系密切，预防网络成瘾应从性别和个体的心理特点出发。     

Adaptive modification of the vestibulo-ocular reflex by mental effort in darkness

Summary The vestibulo-ocular reflex (VOR) can be suppressed in darkness if a subject tries to imagine that he looks at a head fixed target. This mental suppression of VOR was used to induce adaptive changes in VOR gam during 3 h of active head oscillations in complete darkness. VOR gain changes were tested by asking the subject to look at a visual target; then passively or actively the head was turned in darkness while the subject fixated the same target. Corrective saccades occurring at the end of the movement when lights were turned on give an elegant measure of VOR gain. Three hours of training induced in 3 subjects a mean of 10.9% and 11.4% decrease of VOR gain for passive and active conditions, respectively. This demonstrates that reflex adaptation can be obtained without external cues, and probably with only an internal reconstruction of target and eye movement.