Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.

健脾益肾推拿法治疗全面性发育迟缓的有效性研析

目的 将健脾益肾推拿法用于全面性发育迟缓患儿,并分析其疗效。方法 选取2019年8月至2021年12月就诊于枣庄市立医院理疗科全面性发育迟缓的患儿60例为研究对象,根据单双号方式分为两组,每组各30例。对照组采取常规治疗,观察组联合健脾益肾推拿法,对两组的全面发育情况、满意度等进行评估。结果 治疗后,两组大运动、精细动作、语言评分高于治疗前,且观察组高于对照组,差异有统计学意义(P <0.05)。治疗后,两组适应性、个人-社交、格赛尔发育量表(Gesell)总分高于治疗前,且观察组高于对照组,差异有统计学意义(P <0.05)。治疗后,两组粗大运动发育量表(GMFM-88)及婴儿到初中生社会能力量表(S-M)评分高于治疗前,且观察组高于对照组,差异有统计学意义(P <0.05)。观察组治疗总满意度为93.33%,高于对照组的73.33%,差异有统计学意义(P <0.05)。结论 健脾益肾推拿法可促进全面性发育迟缓患儿的全面发育,提升患儿的生活能力、运动能力等综合能力,有利于患儿的成长,并取得较高的满意度,值得临床推广。

推拿联合Bobath疗法在小儿运动发育迟缓康复治疗中的应用效果

目的观察推拿联合Bobath疗法在小儿运动发育迟缓康复治疗中的应用效果。方法选取2022年1月至2023年7月肇庆市第二人民医院儿童保健科收治的30例运动发育迟缓小儿为研究组,采用推拿联合Bobath疗法,选取2019年1月至2021年12月的30例患儿为对照组,单纯采用Bobath疗法。比较两组患儿治疗前后的五大区发育商和治疗效果。结果两组治疗后的五大区发育商(大运动、精细运动、语言、适应能力及社交能力)高于治疗前,且研究组精细运动、语言、适应能力及社交能力评分高于对照组,差异有统计学意义(P<0.05);两组患儿的治疗总有效率比较,差异无统计学意义(P>0.05);但研究组的治疗效果整体优于对照组,差异有统计学意义(P<0.05)。结论推拿联合Bobath疗法在运动发育迟缓小儿的语言、适应能力及社交能力康复治疗中较单纯Bobath疗法更具有优势,值得临床应用和基层技术推广。

0~1岁婴儿运动发育落后的影响因素分析

目的 探讨0~1岁婴儿运动发育落后的影响因素。方法 选取2022年6月至2023年2月首都医科大学附属北京儿童医院保健中心定期健康体检的足月儿396例,采用Alberta婴儿运动量表(Alberta infant motor scale,AIMS)评分评价婴儿的运动发育情况,根据AIMS得分的百分位将足月儿分为运动发育正常组(AIMS得分百分位>P10)和运动发育落后组(AIMS得分百分位≤P10);采用Gesell发育诊断量表(以下简称Gesell发育量表)评估足月儿的发育商(developmental quotient,DQ),采用多因素logistic回归方程分析足月儿运动发育落后的影响因素。结果 396例足月儿中男221例、女175例,月龄3.0~12.0个月,平均(7.2±2.7)个月;327例(82.6%)足月儿运动发育正常,69例(17.4%)运动发育落后。AIMS与Gesell发育量表评价运动发育落后的Kappa值为0.61(P<0.05)。与运动正常组相比,运动发育落后组Gesell发育量表的适应性、精细动作、语言和个人社交DQ得分较低,差异均有统计学意义(P<0.001)。多因素logistic回归方程结果显示,精细动作DQ>85(OR=0.349,95%CI:0.187~0.653,P=0.001)和语言DQ>85(OR=0.337,95%CI:0.186~0.613,P<0.001)的足月儿发生运动发育落后的风险较低。结论 Gesell发育量表评价0~1岁婴儿大运动与AIMS评价运动发育结果的一致性较好,其中精细动作DQ和语言DQ是0~1岁婴儿运动发育落后的影响因素。应关注0~1岁婴儿精细动作和语言发育,促进早期运动发展。

亲属主导下的情景训练对精神发育迟缓伴癫痫患儿发育水平、运动功能及脑电波的影响

目的:分析亲属主导下的情景训练对精神发育迟缓伴癫痫患儿发育水平、运动功能及脑电波的影响。方法:选取2020年10月-2022年10月就诊于河南科技大学第一附属医院的96例精神发育迟缓伴癫痫患儿作为研究对象,采用随机数字表法分为基础组与观察组。两组均给予抗癫痫、营养脑神经药物治疗,基础组48例给予常规训练措施,观察组48例给予亲属主导下的情景训练。比较两组患儿发育水平、运动功能及脑电波。结果:干预后观察组患儿精细运动、大运动、社交、语言维度评分均高于基础组(P<0.05);干预后观察组患儿A区、B区、C区、D区、E区评分均高于基础组(P<0.05);干预后观察组患儿θ波、β波、α波波幅均高于基础组(P<0.05)。结论:亲属主导下的情景训练能够有效改善精神发育迟缓伴癫痫患儿运动功能,促使患儿发育,调节脑功能,改善脑电波波幅水平。

Motor Affordances in Family Context of Children 18 to 42 Months,From a Urban Coastland County of Portugal

AHEMD-SR(Affordances in the Home Environment for Motor Development-Self Report)was applied to children from 18 to 42 months(N=132),from a coastal municipality of Portugal.The results revealed that the father’s income provides more conditions for motor development stimulation,and that a higher number of offspring may result in less conditions for the younger ones.Having a mother,whatever her academic qualifications,is also a factor that promotes better conditions.Thus,in families with fewer resources and more children,it is strategically advisable to technically support the mother.The kindergarten appears to be an equalizer factor for opportunities for access to motor stimulation resources.

Motor Profile of Late Preterm Infants: A Systematic Review of the Last Decade

Motor development at late preterm infants has significant importance as it composes the picture of the severe evidences of motor impairments or other developmental difficulties. Early detection is crucial as early intervention is the unique immediate solution option to catch up the developmental milestones. Method: Α systematic search for scientific articles of the decade 2010-2020 investigating the motor profile of late preterm infants was conducted. Results: The search identified 9 studies, many of which highlighted the risk of motor and developmental delays even at 36 months of age. Conclusions: The stability of motor and developmental delays indicates the need of further investigation at a later age and intervention to avoid possible academic difficulties.

A pilot study, a specially designed pillow may prevent developmental plagiocephaly by reducing pressure from the infant head

Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by >400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are as follows: less than 3 times per day for the tummy time, torticollis and slow achievement of motor milestones. There is a need for better information to the parents but also for other strategies to prevent DP. The aim of this study was to investigate the effect of a special pillow and thus to reduce pressure on the infant head. Method: infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: seven infants had CVAI >3.5 on the last assessment, five of these had not used any method to reduce pressure. Fishers exact test showed a tendency where infants with reduced pressure on the head had less DP (P 0.08). Paired t test showed significant decrease in CVAI for the infants who had had reduced pressure on the head (P 0.01). Among these infants the CVAI was zero for 47% in the last assessment. For the infants who had not had a reduction of pressure on the head, there was no indication of a decrease of CVAI (P 0.45), and only 12% of these infants had a CVAI that was zero in the last assessment. Conclusion: this pilot study shows that a specially designed pillow may prevent DP in young infants. However, a larger sample is needed to confirm or disprove this. The study is planned to go on until there are 200 participants.

A Specially Designed Pillow Can Decrease Developmental Plagiocephaly in Young Infants

Developmental plagiocephaly (DP) has been an increasing problem since the successful “back to sleep campaign”. The referrals for DP have increased by more than 400% during the years 2004 to 2008. Many infants spend less time in the prone position nowadays and some of the risk factors for DP are: tummy time less than 3 times per day, torticollis and slow achievement of motor milestones. Improved information for the parents is needed but also other strategies to prevent DP. This study is a continuum of an earlier pilot study;the aim was to investigate the effect of a pillow, designed to reduce pressure on the infant head. Method: Infants aged zero to two months were included in the study. They were randomized to either intervention group or control group. Head shape was investigated on two occasions, on the second occasion motor development, mobility and muscle function of the neck were also investigated. The parents were asked about tummy time and sleep position. All infants were investigated by the same physical therapist, blinded to group belonging. Result: Fishers exact test showed that it was more common with decreased CVAI among infants in the intervention group (P 0.001). Paired t test showed significant decrease in CVAI for the intervention group (P 0.002), but not for the control group (P 0.96). Conclusion: This study shows that a specially designed pillow can decrease DP in young infants.

Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

Background Recombinant human growth hormone(rhGH)therapy has shown to improve height and body composition in children with Prader–Willi syndrome(PWS),the evidence of early rhGH treatment on motor and mental development is still accumulating.This study explored the time effect on psychomotor development,anthropometric indexes,and safety for infants and young children with PWS.Methods A phase 3,single-arm,multicenter,self-controlled study was conducted in six sites.Patients received rhGH at 0.5 mg/m2/day for first four weeks,and 1 mg/m2/day thereafter for up to 52 weeks.Motor development was measured using Peabody Developmental Motor Scales-second edition,mental development using Griffiths Development Scales-Chinese(GDS-C).Height standard deviation score(SDS),body weight SDS,and body mass index(BMI)SDS were also assessed.Results Thirty-five patients were enrolled totally.Significant improvements were observed in height,body weight,and BMI SDS at week 52;GDS-C score showed significant improvement in general quotient(GQ)and sub-quotients.In a linear regression analysis,total motor quotient(TMQ),gross motor quotient(GMQ),and fine motor quotient were negatively correlated with age;however,treatment may attenuate deterioration of TMQ and GMQ.Changes in GQ and locomotor sub-quotient in<9-month group were significantly higher than≥9-month group.Mild to moderate severity adverse drug reactions were reported in six patients.Conclusion Fifty-two-week treatment with rhGH improved growth,BMI,mental development,and lessened the deterioration of motor function in infants and young children with PWS.Improved mental development was more pronounced when instituted in patients<9 months old.

Neural Correlates of Developmental Coordination Disorder: The Mirror Neuron System Hypothesis

Primary impairments of developmental coordination disorder (DCD) include impairments in motor skill, motor learning, and imitation. Such difficulties present challenges for individuals with DCD and may persist into adulthood, negatively impacting daily life in school, work, and social domains. A better understanding of the neural correlates of motor and imitation impairments in DCD holds the potential for informing development of treatment approaches to address these impairments. Although the disorder is assumed to be of neurological origin, little is known of the brain-based etiology of DCD. In recent years the discovery of a fronto-parietal circuit—known as the mirror neuron system—has enabled researchers to better understand imitation, general motor functions, and aspects of social cognition. Given its involvement in imitation and other motor functions, we propose that dysfunction in the mirror neuron system may underlie the characteristic impairments of DCD. We review literature pertaining to the mirror neuron system and develop a theory of disordered mirror neuron functioning in DCD. Finally, we review the limited neuroimaging literature available on neural correlates of DCD and show that the findings from those investigations are congruent with a mirror neuron system theory of DCD. Future research in this population should be designed to investigate specifically mirror neuron regions in individuals with DCD during skilled motor tasks and imitation in particular.

早产对儿童发育性协调障碍的影响分析

目的:了解早产(<37孕周)对儿童发育性协调障碍的影响,并与足月儿童运动协调能力进行比较分析。方法:采用横断面调查,随机选取2021年7月—2022年12月期间在南通大学附属妇幼保健院儿童保健科健康体检的早产儿120例和足月儿125例为研究对象,进行动作协调能力标准测试(movement assessment battery for children-2,MABC-2),并填写发育性协调障碍问卷(developmental coordination disorder questionnaire,DCDQ)。结果:MABC-2测试结果显示,早产儿运动控制能力、精细运动能力、一般协调性和总的运动协调能力均较足月儿落后(t=-2.213、-2.042、-2.161、-2.235,均P<0.05);DCDQ评估结果显示,早产儿运动控制能力、精细运动能力、一般协调性均较足月儿童落后(t=-2.410、-3.010、-3.188,均P<0.05)。结论:早产儿运动协调能力较足月儿落后,早产可能是儿童发育性协调障碍的危险因素之一。

The Effect of the MNRI Method on Neurotransmitter Biomarkers of Individuals with Neurodevelopmental Disorders

Introduction: The MNRI (Masgutova Neurosensorimotor Reflex Integration) method was developed in 1989 in Russia and has spread world-wide to treat individuals with certain types reflex development deficits, behavior disorders, disorders of speech or language development, and learning disabilities. MNRI is based on techniques called “repatterning” or remodulation, meaning re-education, recoding the reflex nerve pathways specific for dynamic and postural reflex schemes. Objectives: Repatterning activates the extra pyramidal nervous system responsible for automatic mechanisms and processes, the extension of links between neurons, the growth of neural nets, myelination, and the creation of new nerve routing. This potential result was tested utilizing urinary measurements of the following neurotransmitters: epinephrine, norepinephrine, dopamine, DOPAC, serotonin, 5-HIAA, glycine, taurine, GABA, glutamate, PEA, and histamine. Methods: Neurological impact of the Masgutova Neurosensorimotor Reflex Method on the magnitude of changes in neurotransmitters was assessed by an external controlled and double-blind method using patients from one of the four diagnosis groups: 1) global developmental disorders;2) cerebral palsy, Traumatic Brain Injury (TBI), Acute Brain Injury (ABI), and seizures;3) ADD/ADHD;and 4) anxiety disorders. Results: The post-MNRI results in participants show a tendency for regulation of the above neurotransmitters resulting in their calming down, decrease of hypervigilance, stress resilience increase, improvements in behavioral and emotional regulation, positive emotions, and cognitive processes control. Conclusion: The application of the Masgutova Neurosensorimotor Reflex Method as a therapy modality offers a novelty paradigm for the treatment using neuro- and immune-modulation technologies presenting a non-pharmaceutical approach, based on use of neurosensorimotor reflex circuit concept.

六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析

目的:分析驱动蛋白家族成员1A(KIF1A)基因变异致常染色体显性遗传神经发育障碍患儿的临床和遗传学特点。方法:收集并回顾性分析2018至2020年在上海交通大学医学院附属上海儿童医学中心就诊的6例KIF1A基因新生杂合变异患儿的临床及基因检测资料。致病性变异的确定基于对先证者行全外显子组基因测序,同时使用桑格测序对家系成员进行验证,并进一步采用生物信息学方法分析变异对蛋白三维结构以及稳定性的影响。结果:6例患儿中男性4例,女性2例,确诊年龄7月龄~18岁。6例患儿自幼即有不同程度的大运动发育迟缓,其中4例可走路患儿存在步态异常或易摔倒;2例患儿同时合并智力发育迟缓、癫痫以及眼部发育异常。基因检测发现6例患儿均存在KIF1A基因杂合新生突变,包括4个错义突变和1个剪接突变。除c.296C>T(p.T99M)和c.761G>A(p.R254Q)外,c.326G>T(p.G109V)、c.745C>G(p.L249V)和c.798+1G>A均未曾报道。生物信息学分析表明G109V和L249V可损害其与邻近氨基酸残基的结合从而损害蛋白质功能,并降低蛋白质的稳定性,评估为“可能致病”;而c.798+1G>A可能导致KIF1A蛋白运动结构域中一个α螺旋结构严重受损,评估为“可能致病”。结论:KIF1A基因变异相关疾病临床异质性较强,大运动发育迟缓以及步态异常是临床常见的特征,其中T99M变异携带者的临床症状较重,R254Q变异携带者症状相对较轻。

基于计算机视觉的儿童精细动作评估研究

目的 提出一种基于计算机视觉的方法来评估儿童精细动作,以促进对儿童发育性协调障碍的准确诊断和进一步研究。方法 利用计算机视觉技术从视频中提取人体关键点,并对其进行时间序列特征提取,然后使用深度学习神经网络对儿童精细动作进行分类和预测。结果 实验结果显示,本研究方法的准确率达到81%,相较于传统的基于手工特征的评价方法,在准确率上有所提高。结论 基于计算机视觉的儿童精细动作自动评估方法,为儿童发育性协调障碍疾病的辅助诊断提供了一个有效的判别工具,为促进幼儿早期综合发展提供了有力的技术支持。

母乳口腔运动联合母亲声音刺激对极低出生体重早产儿喂养效果及口腔运动功能的影响

目的:分析母乳口腔运动联合母亲声音刺激方案应用于极低出生体重早产儿对喂养效果、口腔运动功能产生的影响。方法:收集2019年11月—2021年11月厦门大学附属妇女儿童医院收治的92例极低出生体重早产儿,根据电脑数表法进行随机分组,对照组46例予以常规口腔运动护理,观察组46例予以母乳口腔运动联合母亲声音刺激干预,对两组喂养效果、口腔运动功能及发育情况进行比较。结果:护理2周后,两组早产儿准备经口喂养评估量表(PIOFRA)评分均高于护理前,且观察组高于对照组,差异均有统计学意义(P<0.05)。观察组开始经口喂养与完全经口喂养时间均短于对照组,同时开始经口喂养时、完全经口喂养时的喂养效率均高于对照组,差异均有统计学意义(P<0.05)。护理2周后,两组口腔运动功能均高于护理前,观察组正常吸吮形态评分高于对照组,而障碍吸吮与失调吸吮形态评分均低于对照组,差异均有统计学意义(P<0.05)。护理2周后,两组发育情况较护理前均改善,且观察组体重高于对照组,头围与身高均长于对照组,差异均有统计学意义(P<0.05)。结论:母乳口腔运动联合母亲声音刺激方案应用于极低出生体重早产儿可取得显著效果,有助于提高其喂养效果,增强口腔运动功能,且改善发育情况。

A型肉毒毒素注射配合康复功能训练对痉挛型偏瘫脑瘫患儿上肢运动功能疗效观察

目的观察A型肉毒毒素(BTX-A)注射治疗配合康复功能训练对痉挛型偏瘫脑瘫患儿上肢功能障碍的疗效。方法 60例痉挛型偏瘫型脑瘫患儿均接受BTX-A注射治疗,治疗后进行强制性诱导运动训练、物理疗法、肌电生物反馈治疗、作业治疗及家庭训练。在治疗前与治疗3个月后,分别用改良Ashworth痉挛量表(MAS)评定患侧上肢肌张力、关节量角器法测量患侧腕关节主动背伸角度、Peabody运动发育量表(PDMS-II)进行患侧手精细运动商(FMQ)的评估、日常生活活动能力(ADL)量表评估ADL能力以比较观察疗效。结果治疗后患儿上述指标均较治疗前显著改善(P<0.001)。结论 BTX-A注射治疗配合康复功能训练能明显降低痉挛型偏瘫型脑瘫患儿的上肢肌张力,改善关节活动范围,明显提高上肢运动功能。

Alberta婴儿运动量表与Peabody运动发育量表-2在脑损伤高危儿中的一致性研究

目的探讨Alberta婴儿运动量表(AIMS)与Peabody运动发育量表-2(PDMS-2)在1-9个月脑损伤高危儿的平行效度。方法 1-9个月脑损伤高危儿60例,均接受AIMS和PDMS-2评估。AIMS总分与PDMS-2粗大运动原始总分(GMS)进行Spearman相关性分析,AIMS百分位与粗大运动商(GMQ)根据Kappa值进行定性分析。并对两个量表检查时间进行比较。结果 AIMS总分与PDMS-2 GMS的相关系数为0.91(P<0.001),AIMS百分位与PDMS-2 GMQ的相关系数为0.6。AIMS评估时间平均(10.47±3.63)min,PDMS-2评估时间平均(26.5±7.77)min(t=28.895,P<0.001)。结论 AIMS与PDMS-2在1-9个月脑损伤高危儿的运动发育评估中具有较高的一致性。

不同出生体重脑瘫高危儿婴儿期粗大与精细运动技能发育特征及其相关性研究

目的:了解不同出生体重脑瘫高危儿婴儿期粗大与精细运动技能发育的结构特征及其相关性。方法:以接受Peabody运动发育量表中的粗大运动(GM)和精细运动(FM)技能评估量表评定的522例年龄小于1岁的脑瘫高危儿为研究对象,通过多变量方差分析和t检验确定不同出生体重脑瘫高危儿婴儿期运动技能发育的结构特征,采用Pearson相关分析比较其相关程度。结果:不同出生体重组别间患儿GM、FM各项原始分和标准分值比较,差异均无显著性意义(P>0.05)。患儿的姿势、移动、抓握、视觉-运动整合项标准分值均明显低于反射项(t值分别为23.82、32.27、37.06、26.92,P<0.001)。不同出生体重组别患儿反射、姿势和移动项标准分值与FM分值具有良好相关性(r=0.39-0.85,P<0.01),且抓握、视觉-运动整合项标准分值与GM分值也有良好相关性(r=0.55-0.85,P<0.01)。结论:不同出生体重脑瘫高危儿的反射发育明显好于姿势、移动、抓握、视觉-运动整合发育,其粗大运动与精细运动技能发育存在良好的相关性。