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motor development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Open Journal of Clinical Diagnostics 2017年第1期7卷 8-19页

作者： Paula de Almeida Thomazinho Fernanda Bertao Scalco Maria Lucia Costa de Oliveira Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr Fisioterapia motora Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil Departamento de Bioquimica Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Area de Centro de Genetica Medica Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil

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 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

关键词： Infantile Pompe Disease motor development Enzyme Replacement Therapy Glc4 Biomarker

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

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World Journal of Pediatrics 2023年第5期19卷 438-449页

作者： Ruo-Qian Cheng Yan-Qin Ying Zheng-Qing Qiu Jun-Fen Fu Chun-Xiu Gong Yan-Ling Yang Wei Shi Hui Li Ming-Sheng Ma Chang-Yan Wang Min Liu Jia-Jia Chen Chang Su Xiao-Ping Luo Fei-Hong Luo Wei Lu Department of Endocrinology and Inherited Metabolic Diseases National Children’s Medical CenterChildren’s Hospital of Fudan University399 Wan Yuan RoadShanghai201102China Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina Department of Pediatrics Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Endocrinology Children’s HospitalZhejiang University School of MedicineHangzhouChina Department of Endocrinology Genetics and MetabolismBeijing Children’s HospitalCapital Medical UniversityBeijingChina Department of Pediatrics Peking University First HospitalBeijingChina Department of Rehabilitation National Children’s Medical CenterChildren’s Hospital of Fudan UniversityShanghaiChina

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 *** study explored the time effect on psychomotor development,anthropometric indexes,and safety for infants and young children with *** A phase 3,single-arm,multicenter,self-controlled study was conducted in six *** received rhGH at 0.5 mg/m2/day for first four weeks,and 1 mg/m2/day thereafter for up to 52 *** 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 *** Thirty-five patients were enrolled *** improvements were observed in height,body weight,and BMI SDS at week 52;GDS-C score showed significant improvement in general quotient(GQ)and *** 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 *** in GQ and locomotor sub-quotient indevelopment,and lessened the deterioration of motor function in infants and young children with *** mental development was more pronounced when instituted in patients<9 months old.

关键词： Body mass index Growth hormone Mental development motor development Prader-Willi syndrome

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motor assessment of developing common marmosets

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Neuroscience Bulletin 2014年第3期30卷 387-393页

作者： Yiwen Wang Qin Fang Neng Gong School of Agriculture and Biology Shanghai Jiao Tong University Institute of Neuroscience and State Key Laboratory of Neuroscience Shanghai Institutes for Biological Sciences ChineseAcademy of Sciences

motor development has been extensively studied in human infants and children, with several established scales for the evaluation of motor functions. However, the study of the neuronal mechanisms underlying human motor development is hampered by the lack of good animal models. The common marmoset （Callithrix jacchus）, a small New World monkey, has recently attracted much attention as a potential non- human primate model for understanding human physiology and diseases. However, little is known about its gross motor development. In the present study, we found that marmosets have a critical period for motor development in postnatal weeks 2 to 5, and acquire most of their motor skills by 8 weeks of age. We also developed methods to assess their motor functions, which will be useful for the evaluation of motor performance in marmoset models of human diseases. In addition, we found that marmosets exhibit a ＂head-to-tail＂ sequence of motor development similar to that found in humans, further supporting the notion that they provide a good animal model for studying the neuronal mechanisms underlying human motor development.

关键词： marmoset animal model motor development motor behavior

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Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

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Open Journal of Clinical Diagnostics 2019年第1期9卷 16-32页

作者： Paula De Almeida Thomazinho Eliana Pelissari Regina Celia Beltrao Duarte Carolina Fishinger Moura De Souza Heloise Helena Siqueira Borges Maria Da Gloria Cruvinel Horta Liane De Rosso Giuliani Ana Maria Martins Lilian Stewart Dafne Dain Gandelman Horovitz Juan Clinton Llerena motor Physical Therapy Unit Fernandes Figueira National Institute/FIOCRUZRio de JaneiroBrazil Clinical Medical Unit Dr.Jeser Amarante Faria Children’s HospitalJoinvilleBrazil Pediatric Neurology Unit Santa Casa de Misericordia do Para FoundationBelemBrazil Sciences Medical Genetics Unit Service of Information on Inborn Errors of MetabolismHospital de Clínicas de Porto AlegrePorto AlegreBrazil Clinical Medical Unit University of Cuiaba UNICCuiabaBrazil Santa Casa de Belo Horizonte Belo HorizonteBrazil Genetics Unit Federal University of Mato Grosso do SulCampo GrandeBrazil Inborn Errors of Metabolism and Genetics Unit Federal University of São PauloUNIFESPSão PauloBrazil Pediatric Intensive Care Unit State Institute of Cardiology of Rio de JaneiroIECACRio de JaneiroBrazil 1 Medical Genetics Unit Fernandes Figueira National Institute of WomenChildren and Adolescent Health/FIOCRUZRio de JaneiroBrasil

Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.

关键词： motor development Child Disability Glycogen Storage Disease Type II Enzyme Replacement Therapy

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motor Efficiency and Comparison of Children in Early Childhood from Greece Albania and Sweden

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Journal of Sports Science 2017年第2期5卷 96-106页

作者： Zaragas K. Harilaos Sarris Demetrius Pliogou Vassiliki Ntella Dimitra Panagiotopoulou Antonia Zioga Olga Department of Early Childhood Education (E. C.E.D. U.) University of loannina Northwest Greece 45110 Greece Department of Early Childhood Studies & Special Education Metropolitan College of Thessaloniki Central Macedonia 56431 Greece

The purpose of this study was to observe record and compare the children＇s of early childhood performance of motor skills of different nationalities from Greece, Albania and Sweden. Additionally to investigate differences in motor performance between boys and girls and between age groups. The survey was conducted in the school years 2013-2014 and 2014-2015, and took place in the flame of the student exchange program ERASMUS internships of Preschool Education, University of loannina. The sample consisted of 369 infants （187 boys, 182 girls） aged 66 ± 7 months. The sample was selected according to the access that the team had in nursery schools of Ioannina （N1 = 133）, in Dervitsani （N2 = 131） Albania and Gothenburg （N2 = 105） of Sweden. The array of 18 different motor activities for children aged 4-6 years old was used to investigate the toddlers＇ degree of movement performance. They were used the manufacturer＇s instructions for the degree of movement performance and classification of the sample in different categories, while a descriptive statistics and analysis of variance （Three Way ANOVA） took place for sex factors, age and region of origin. The results showed that although there were differences in rates distributions and averages, there were no significant differences either between children from the three countries or between boys and girls, however, there were in the age groups with older children who achieved better rates.

关键词： motor development motor efficiency preschool age MOT Test.

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

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Journal of Biosciences and Medicines 2021年第7期9卷 195-206页

作者： Niki Karageorgi Sofia Charitou Katerina Asonitou Dimitra Koutsouki Laboratory of Adapted Physical Activity Developmental and Physical Disabilities School of Physical Education and Sport Science National & Kapodistrian University of Athens Athens Greece

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.

关键词： Late Preterm Infants motor Profile Infancy motor development

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Dynamic Balance in Children With Trisomy 21:A Pilot Study

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Psychology Research 2020年第7期10卷 285-288页

作者： David Catela Ana Paula Seabra Bernardo Matias Miguel Nunes Pedro Neves Samuel Rodrigues Higher School of Sports Sciences of Rio Maior Polytechnique Institute of SantarémSantarémPortugal Life Quality Research Centre(CIEQV) Rio MaiorPortugal Research Unity of the Polytechnique Institute of Santarém SantarémPortugal

At age 5,children with trisomy 21 have roughly 2 years of delayed motor *** aimed to verify if children with trisomy 21(AD)(N=6,7.67±1.51 years)had a similar performance to children with a typical development(TD)(N=37,5.19±0.40 years old),in a playful motor action(to spin on herself until she cannot get more).On average,ADs gave less laps,for less time,spending more time per rotation,but without significant *** the AD,one-third fell and rose to continue to spin;one-third stopped and resumed spinning(with intervals of 2.05±0.86s).Three ADs performed the action counterclockwise and the other three in clockwise *** results support the hypothesis that AD can perform the activity of spinning,with DT(significantly)younger,allowing to AD momentary pauses and conditions for their physical security.

关键词： children dynamic balance motor development trisomy 21

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

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Psychology Research 2020年第7期10卷 280-284页

作者： Pedro Rezendes David Catela Higher School of Sports Sciences of Rio Maior Polytechnique Institute of SantarémSantarémPortugal Life Quality Research Centre(CIEQV) Rio MaiorPortugal Research Unity of the Polytechnique Institute of Santarém SantarémPortugal

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 *** 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 *** a mother,whatever her academic qualifications,is also a factor that promotes better ***,in families with fewer resources and more children,it is strategically advisable to technically support the *** kindergarten appears to be an equalizer factor for opportunities for access to motor stimulation resources.

关键词： AHEMD kindergarten motor development toys

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6-18岁智力障碍学生平衡能力的研究

6-18岁智力障碍学生平衡能力的研究

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作者：孙金凤北京体育大学

学位级别：硕士

本研究以全国各地1090名智力障碍学生作为受试者,使用动作熟练度测试工具中的相关测试项目采集受试者平衡能力的相关数据。采用单样本t检验的方法比较智力障碍学生与同龄普通学生形态指标的差异;采用多因素多元方差分析的方法分析不同... 详细信息

本研究以全国各地1090名智力障碍学生作为受试者,使用动作熟练度测试工具中的相关测试项目采集受试者平衡能力的相关数据。采用单样本t检验的方法比较智力障碍学生与同龄普通学生形态指标的差异;采用多因素多元方差分析的方法分析不同性别、不同地区、不同年龄段、不同体型以及不同残疾程度智力障碍学生的平衡能力差异;使用百分位数法制定智力障碍学生平衡能力的参考表。旨在了解现阶段我国智力障碍学生的平衡能力发展水平和特点,并为我国特殊教育老师以及相关康复人员提供智力障碍学生平衡能力发展水平的参考标准。研究结果表明：(1) 年龄差异会对智力障碍学生的平衡能力有显著的影响。随着年龄的增长,智力障碍学生的动态平衡能力和静态平衡能力都有显著的提高。(2) 地区差异会对智力障碍学生的平衡能力有显著的影响。总体上,城郊地区智力障碍学生的平衡能力优于城市和农村地区的智力障碍学生。(3) 残疾程度会对智力障碍学生的平衡能力有显著的影响。残疾程度越轻,其平衡能力越好。(4) 体型对智力障碍学生的平衡能力没有显著影响。(5) 性别对智力障碍学生的平衡能力没有显著影响。(6) 所得参考表离散程度不佳,建议在测试工具的后续使用中按照不同的年龄段设置满分标准,以增加区分度。

关键词： motor development intellectual disability balance ability

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爬行真的可有可无吗？

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幼儿教育导读（教育科学版） 2024年第7期

作者：汪晓赞陆悦美孔令松徐勤萍李兴盈

动作发展是指个体在成长过程中逐渐掌握并发展出的各种动作技能。爬行在婴幼儿动作发展中扮演着重要角色，对认知神经系统、肌肉骨骼系统、动作能力和社交能力等方面的成长发育有着积极意义。然而，我国学术界对于动作发展，尤其是爬行... 详细信息

动作发展是指个体在成长过程中逐渐掌握并发展出的各种动作技能。爬行在婴幼儿动作发展中扮演着重要角色，对认知神经系统、肌肉骨骼系统、动作能力和社交能力等方面的成长发育有着积极意义。然而，我国学术界对于动作发展，尤其是爬行的重视程度相对较低，且公众对于爬行在个体成长中的重要性认知不足。以爬行这一婴幼儿时期关键的动作发展里程碑为例，运用文献资料法和逻辑分析法，系统梳理了国际上关于婴儿爬行的相关研究，包括其发展变化、多元作用、影响因素和干预措施等方面的理论研究与实践探索。对实现我国“幼有优育”的婴幼儿健康成长的研究启示主要有：开展大样本的婴儿爬行队列研究；采用婴儿爬行经历作为临床筛查的参考指标；改善婴儿家庭养育的爬行支持环境；完善特殊婴儿的爬行活动干预。

关键词：婴儿爬行动作发展运动干预 infants crawling motor development exercise intervention

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