Polymyography in the diagnosis of childhood onset movement disorders

We report on the results of a clinical and polymyographic retrospective study of 61 paediatric patients with tremor, dystonia and/or myoclonus. Aim of the study was to verify the contribution of polymyography in the classification of these movement disorders and in their aetiological definition.

Methods

The movement disorders were clinically classified by two experts, based on clinical and videotape recordings evaluation; all patients underwent standardized polymyographic evaluation; aetiological diagnosis was performed according to diagnostic protocols for dystonia, myoclonus, tremor and psychogenic movement disorders. The polymyographic features were summarized in five different patterns (dystonia, subcortical myoclonus, myoclonic dystonia, tremor, normal) and compared with the clinical classification and with aetiological diagnosis.

Results

In more than 70% of the patients the polymyographic features were in accordance with the clinical classification; in 31% the polymyographic features allowed to identify a clinically unclassified movement disorder and in 19.6% disclosed a not clinically evident associated movement disorder. The polymyographic study did not contribute to the aetiological diagnosis, but was useful in supporting the clinical diagnosis of psychogenic movement disorder.     

Using computer-based video analysis in the study of fidgety movements

Objective

Absence of fidgety movements (FM) in high-risk infants is a strong marker for later cerebral palsy (CP). FMs can be classified by the General Movement Assessment (GMA), based on Gestalt perception of the infant's movement pattern. More objective movement analysis may be provided by computer-based technology. The aim of this study was to explore the feasibility of a computer-based video analysis of infants' spontaneous movements in classifying non-fidgety versus fidgety movements.

Method

GMA was performed from video material of the fidgety period in 82 term and preterm infants at low and high risks of developing CP. The same videos were analysed using the developed software called General Movement Toolbox (GMT) with visualisation of the infant's movements for qualitative analyses. Variables derived from the calculation of displacement of pixels from one video frame to the next were used for quantitative analyses.

Results

Visual representations from GMT showed easily recognisable patterns of FMs. Of the eight quantitative variables derived, the variability in displacement of a spatial centre of active pixels in the image had the highest sensitivity (81.5) and specificity (70.0) in classifying FMs. By setting triage thresholds at 90% sensitivity and specificity for FM, the need for further referral was reduced by 70%.

Conclusion

Video recordings can be used for qualitative and quantitative analyses of FMs provided by GMT. GMT is easy to implement in clinical practice, and may provide assistance in detecting infants without FMs.     

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome

FOXG1-related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1-related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to identify common features despite the three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression). In conclusion, we stress the importance of considering genetic syndromes in the differential diagnosis of early-onset movement disorders.     

全身运动质量评估：超早期预测早产儿神经发育结局的可靠工具

脑瘫可导致脑发育中的婴儿出现运动功能及姿势的显著异常,早产是造成脑瘫最常见的高危因素,早期识别可能存在的神经发育损伤,以便在严重伤残发生之前进行早期干预显得十分重要。全身运动质量评估在超早期可有效地预测婴儿严重的神经发育缺陷,该方法采用视觉Gestalt知觉对处于早产阶段、足月阶段以及足月后5个月内婴儿的全身运动质量进行评估,其中“不安运动”对神经发育结局尤为重要。     

龙牡壮骨冲剂对小鼠胃肠动力和血浆胃动素的影响

目的观察龙牡壮骨冲剂对小鼠胃肠动力和血浆胃动素(MTL)的影响。方法将小鼠随机分为对照、模型、龙牡壮骨冲剂大、中、小剂量组。用甲氧氯普胺、阿托品、新斯的明、肾上腺素尾静脉注射复制胃肠动力紊乱模型,以营养性半固体糊灌胃,标记并测量胃残留率和小肠推进比,以放射免疫法测量其血浆MTL水平。结果与正常对照组比较,甲氧氯普胺可致胃排空加速,新斯的明可致小肠推进比增加,同时均可使血浆MTL升高(Pa<0.05);阿托品可致胃排空减慢,肾上腺素可致小肠推进比降低,同时均可使血浆MTL降低(Pa<0.05)。龙牡壮骨冲剂对正常组胃残留率和小肠推进比无影响。与模型组比较,龙牡壮骨冲剂对甲氧氯普胺、阿托品、新斯的明和肾上腺素致胃肠动力紊乱有逆转作用(Pa<0.05);对各组MTL紊乱亦有逆转作用(Pa<0.05)。结论龙牡壮骨冲剂可双向调节胃肠运动,并有剂量依赖性,其对胃肠动力调节作用可能是通过影响血液中MTL实现的。     

The development of mature patterns of head-eye coordination in the human infant

Four experiments examined the initiation of coordinated head and eye movement and the vestibulo-ocular reflex (VOR). Experiment 1 examined the initiation of head and eye movement to stationary, peripheral, visual targets. In adults we would expect to see an eye movement followed by a head movement. The VOR would maintain field-holding while the head rotated. Three-month-olds produced the same pattern of coordinated movement as seen in adults, 2-mth-olds produced only eye movements, i.e., no apparent head movement. Experiment 2 examined the gain of the VOR in darkness in 2-and 3-mth-olds and an adult. The VOR at all ages was qualitatively and quantitatively the same. Experiment 3 examined the gain of the VOR during visual fixation. The gain in 3-mth-olds showed a significant increase as compared to gain in darkness. The same increment was seen in the adult. Two-month-olds showed no facilitation of gain. Experiment 4 examined tonic suppression of the VOR during visual fixation. While total suppression was seen in the adult and the 3-mth-olds, no suppression was apparent in 2-mth-olds. Overall, the data indicate that communication between the visual, vestibular, head movement and eye movement systems shows a marked shift between the second and third month of life.     

Restless legs syndrome, periodic leg movements, and periodic limb movement disorder in children

The characteristic symptoms of restless legs syndrome (RLS) have been known for hundreds of years and were first reported in medicine in the 1600s. Clinicians must consider potential mimics, comorbid, and associated conditions when evaluating children with RLS symptoms. The traditional differentiation of RLS from periodic limb movement disorder (PLMD) is noted in children as well as adults. Because current pediatric RLS research is sparse, this article provides the most up-to-date evidence-based as well as consensus opinion-based information on the subject of childhood RLS and PLMD. Prevalence, pathophysiology, diagnosis, treatment, and clinical associations are discussed.     

A long-term monitoring of fetal movement at home using a newly developed sensor: an introduction of maternal micro-arousals evoked by fetal movement during maternal sleep

BACKGROUND: Pregnant women's sleep disturbance due to fetal movement is well known. Fetal movement is thought to be an index of fetal well-being. However, as there has never been a way to easily and reliably record fetal movement, psychophysiological studies of pregnant women's sleep disturbance and fetal well-being have not been done. AIMS: To solve these methodological issues, we developed a new sensor with electrostatic capacity that can pick up acceleration of fetal movement. METHODS AND RESULTS: Experiment I: We verified the reliability of our fetal movement recording system. Thirty-two pregnant women (from 19 to 39 weeks of gestation) were asked to lie down on a bed for about 1 h and to press a button as a subjective marker when they felt fetal movement. We simultaneously recorded maternal polysomnograms and fetal movement from the mothers' abdomens using a Medilog recorder. The mean of prevalence-adjusted bias-adjusted kappa for agreements, based on time between fetal movement signals recorded and subjective maternal markers, was substantial at 0.75. Experiment II: We recorded seven pregnant women's polysomnograms and fetal movement simultaneously during all-night sleep at home using our sensor during weeks 33 and 36 of gestation. We succeeded in recording maternal micro-arousals evoked by fetal movement. The mean value of the number of micro-arousals at 33 weeks was slightly larger than that at 36 weeks. CONCLUSIONS: There was a high agreement between subjective maternal markers and fetal movement. Our recording system using the new sensor can be used for home monitoring of fetal movement.     

儿童和青少年期的功能性运动障碍

功能性运动障碍（FMDs）也称心因性运动障碍（PMDs），与其他功能性神经疾病类似，FMDs应被视为一种生物-心理-社会性疾病，而并非仅仅是心理或精神疾病。FMDs病因包括神经生物学变化，如大脑激活模式异常以及边缘系统和运动网络之间的连接异常。遗传和表观遗传学机制，如DNA甲基化、灰质和白质形态发育的改变可能影响FMDs的发生。FMDs在儿科门诊并不少见，其临床表现形式复杂多样，是最具挑战性的运动障碍之一。由于临床认识不足，目前缺乏统一的诊断标准，使儿科医生诊断FMDs存在困难，容易与其他疾病混淆。儿科医生应该更多关注FMDs患儿，并与精神科医生、发育行为学专家和物理治疗师组成多学科团队，使FMDs患儿得到更积极地管理和治疗。     

15q11-13缺失型Angelman综合征17例遗传学诊断及临床特点

目的 对临床诊断的Angelman综合征(AS)患儿进行遗传学诊断和临床特点分析.方法 利用MS-PCR、STR家系连锁分析和染色体核型分析,对17例临床诊断AS的患儿(其中男7例,女10例,年龄8个月～5岁)进行遗传学诊断.依据国际诊断标准,分析15q11-13缺失型AS患儿的相关表型特点.结果 (1)17例确诊为15q11-13缺失型AS.(2)患儿出生情况无明显异常.所有的患儿均有不同程度的运动和语言发育迟缓,以语言发育落后更为显著,并伴有特征性的快乐行为.(3)AS的经常性表现:癫癎(15例),异常脑电图(14例),发生率约80%～90%,只有35%的患儿(6例)存在小头畸形.(4)与AS较为关联的表现:平枕/枕骨凹陷(12例),下颌突出(10例),宽嘴和齿缝稀疏(13例),频繁流口水(8例),过多的嘴部动作(9例),肤色及发色浅淡(13例),运动时屈曲手臂(9例),睡眠障碍(9例)等,发生率47%～77%.＞2岁年龄组患儿的AS相关性表现的发生率均高于≤2岁年龄组患儿.结论 联合应用MS-PCR、STR连锁分析和染色体核型分析,确诊17例患儿为15q11-13缺失型AS.我国15q11-13缺失型AS患儿的临床表现与国际诊断标准基本一致,惟小头畸形比率低于白种人,可能存在人种表型差异.随着年龄的增长AS相关性表现更为明显.     

Choreoathetosis after herpes simplex encephalitis with basal ganglia involvement on MRI

Children with herpes simplex virus encephalitis have a relapse in approximately 25% of cases, which rarely may present as a movement disorder, most often choreoathetosis. The anatomic basis for herpes simplex virus encephalitis-associated movement disorders has been poorly understood, because neuroimaging, to date, has not been able to show the direct involvement of the areas of the brain that typically govern such movements. We present a patient with abnormal involuntary movements after herpes simplex virus encephalitis, with new lesions on MRI between the time of initial presentation and the development of choreoathetosis. To our knowledge, this is the first patient with a post-herpes simplex virus encephalitis movement disorder with neuroradiographic evidence of thalamic involvement correlating with the onset of abnormal involuntary movements. We describe this patient and review the literature on movement disorders and herpes simplex virus encephalitis. Current understanding of the pathophysiology of post-herpes simplex virus encephalitis movement disorders proposes 2 possible mechanisms that may be responsible: reinfection with the resumption of viral replication, or a postinfectious, immune-mediated process.     

Paediatric narcolepsy: complexities of diagnosis

Narcolepsy is a sleep disorder that is characterized by excessive daytime sleepiness and the inappropriate intrusion of aspects of rapid eye movement sleep into wakefulness. While the disorder emerges from an interplay of genetic and environmental factors, recent findings suggest that abnormalities in the neurotransmission of hypocretin may be implicated in its pathogenesis. Although narcolepsy has typically been associated with adulthood, there is a growing evidence base for the emergence of the disorder in childhood. We report suspected narcolepsy in early infancy, highlighting both the complexities of presentation and subsequent diagnosis associated with paediatric narcolepsy, and the significant psychosocial difficulties experienced by children and families managing this disorder.     

Fetal jaw movement affects development of articular disk in the temporomandibular joint

Previous studies suggest that jaw movement is an important factor in the development of cartilage in the temporomandibular joint during the prenatal and postnatal periods. In the present study, the effects of fetal jaw movement on the articular disk were studied in mice by restraining the opening movement of the mouth using the mouse exo utero development system. At embryonic day 18.5, the articular disk was reduced in size in the embryos whose maxilla and mandible were sutured (sutured group) and there were changes in the cellular morphology of the mesenchymal cells in the disk. The volume of the articular disk, the total number of cells and the number of 5-bromo-2'-deoxyuridine-positive cells in the articular disk were significantly lower in the sutured group than in the non-sutured control group. Our data revealed that fetal jaw movement affects the development of the articular disk in the temporomandibular joint.     

Sleep habits and sleep problems among a community sample of schoolchildren

Sleep habits, sleep problems and subjective depth of sleep among 1413 schoolchildren aged 6.2-10.9 y were examined via a questionnaire, answered by the child and parent together. Total sleep time was approximately 10.5 h, with no difference between the sexes. Of 887 children who reported that they were awoken at night, parents considered that 75% were superficial sleepers and 25% were deep sleepers. The prevalence of frequent insomnia, sleepwalking and daytime sleepiness was 13, 7 and 4%, respectively. Logistic regression analyses indicated that onset insomnia was associated with fear of sleeping alone, bone pains, hypnagogic myoclonias, rhythmic movement disorder, enuresis, nocturia, confusion when awoken at night, nightmares, bodily movements during sleep, interrupted sleep, daytime sleepiness and daytime headache or stomach ache. Somnambulism was associated with rhythmic movement disorder, somniloquy, spontaneous confused arousals, nocturia and confusion when awoken at night. Increased risk of daytime sleepiness was found among children with fear of sleeping alone, onset insomnia, rhythmic movement disorder, spontaneous confused arousals, snoring, confusion when awoken, nightmares, bodily movements during sleep and headache or stomach ache. Conclusion: The results support the notion that onset insomnia is a problem with a predominantly psychological and behavioural background, while sleepwalking is a disorder of arousal without major psychological implications. The mechanisms behind daytime sleepiness seem to be multifactorial.     

Delayed emergence of fetal behaviour in type-1 diabetic women

In pregnancies complicated by maternal type-1 diabetes early fetal growth delay is common and it is suggested that there might be a common mechanism behind this growth delay and the induction of abnormal embryogenesis. As some of the most frequent congenital malformations involve the nervous system, the following study was performed in order to determine whether there is a specific delay in development of neural activity in these embryos and fetuses. In ten women with type-1 diabetes the emergence of specific fetal movement patterns, which are an expression of the functional motor development of the nervous system, was studied weekly by 1 h real-time ultrasound observations, starting at or before 8 weeks of gestation. Data were compared with those obtained in uncomplicated pregnancies. In all women a tight metabolic control was achieved with continuous subcutaneous insulin infusion. In six patients this treatment was started before conception. In all but one of the movement patterns emerging in the first 12 weeks of gestation a delay of 1-2 weeks was found in their first appearance. Only breathing movements were observed for the first time at the same gestational age as in the control group. Plotted according to crown-rump length the emergence of fetal movement patterns occurred, however, almost at the same time as in the control group. It is concluded, that in well controlled diabetic pregnancy there is a delay in functional motor development of the embryonic and fetal nervous system; this delay is not very specific but mostly parallels that of growth; breathing movements emerge relatively early as compared to growth.     

Reaction Time and Movement Time in Children with a Developmental Coordination Disorder

The Test of Motor Impairment (TOMI) was used to select 12 children with a Developmental Coordination Disorder (DCD) and 12 age-matched controls. In an aiming task, movement latency, movement duration and its variability were significantly prolonged in the DCD group. In a coincidence timing version of the task, absolute timing error was significantly greater in the DCD group. The most robust chronometric effect for differentiating the two groups seemed to be the duration of movement when the target was small. Multiple regression showed that TOMI was a powerful indicator of movement duration.     

运动识别技术在评估早产儿自发性全身运动中的应用

早产是导致高危儿神经发育障碍尤其是发展为脑性瘫痪的重要原因,早期识别可能存在的神经发育损伤对于早期干预、改善早产儿的神经发育结局尤为重要。全身运动(GMs)评估是目前临床用于高危儿神经发育结局尤其是运动发育结局预测的重要工具。运动识别技术运用计算机化的方法,能有效地对相关肢体运动进行持续追踪和客观定量评估;研究者正在广泛探索针对脑瘫高危儿自发性全身运动的不同记录和分析方法。该文对GMs评估方法进行总结,并对通过运动识别技术评估早产儿自发性全身运动的转化研究进行综述。     

Movement disorders in children: Recent advances in management

In recent years there has been a growing interest towards pediatric movement disorders (PMD). The data derived from the synthesis of clinical observation, neuroimaging, biochemical and, molecular genetics studies have allowed for the identification of a significant number of pediatric diseases featuring movement disorders. The purpose of this review is to outline an approach to the advances in management of dystonia, neurotransmitter disorders, tics, and paroxysmal dyskinetic syndromes starting in children younger than 18 yr of age.     

Tardive dyskinesia associated with use of metoclopramide in a child.

Tardive dyskinesia is a chronic, often permanent, movement disorder that has been reported in elderly patients receiving metoclopramide. We describe an 8-year-old boy with tardive dyskinesia that developed when he received metoclopramide as part of therapy for gastroesophageal reflux and erosive esophagitis.     

儿童功能性运动障碍的临床与康复进展

功能性运动障碍（FMDs）是一种复杂的神经行为障碍,与典型神经系统疾病中常见的运动障碍有明显差异。FMDs的发病是易感性、诱发和持续性因素共同作用的生物-心理-社会模式,神经生物学和遗传因素均参与其机制。近年来COVID-19大流行的环境和社交媒体的广泛使用也对FMDs的发病产生影响。建立FMDs临床诊断需要明确的临床特征、阳性体征和神经影像特征及电生理学检查。多学科治疗和家庭参与对儿童患者的预后有积极的作用。未来需要开展围绕儿童患者的基础和临床研究。对儿科医生、儿童保健人员和公众进行有关FMDs的专业培训和宣传教育十分重要。