儿童脊髓性肌萎缩症的基因诊断

目的探讨儿童脊髓性肌萎缩症(SMA)的特异性基因诊断方法。方法应用聚合酶链反应-限制性片段长度多态性(PCR—RFLP)技术.对19例临床诊断为SMA患儿及21名健康儿童的运动神经元存活(SMN)基因进行检测。结果SMA患儿SMN基因的第7和第8号外显子均缺失,健康儿童SMN基因的第7和第8号外显子均未缺失。结论检测SMN基因第7和第8号外显子缺失的方法可用于SMA的基因诊断,且PCR—RFLP技术对SMA的诊断具有较高的特异性和敏感性。     

婴儿型脊肌萎缩症的临床及电生理分析

目的 分析婴儿型脊肌萎缩症患儿的临床及电生理表现，探讨本病的电生理特点及早期诊断要点。方法回顾性分析25例婴儿型脊肌萎缩症临床资料，肌电电生理按常规方法进行，针极肌电图按汤氏正常计算，神经传导速度按本室正常计算。结果患儿大多在1岁内起病，四肢呈对称性、迟缓性瘫痪，下肢重于上肢，近端重于远端；血清CK、LDH正常。肌电图表现为3个肢体在肌肉安静时出现广泛的失神经电位，轻用力时出现长时限、高波幅的运动单位电位，大力募集时电位数减少；神经传导速度正常，肌肉复合动作电位降低；肌肉活检为典型的神经源性肌萎缩。结论本病确诊应依据临床特点、肌电电生理、肌肉活检的改变。     

儿童脊髓性肌萎缩症的临床特征及电生理分析

目的探讨儿童脊髓性肌萎缩症(SMA)的临床及电生理特点。方法收集32例SMA患儿的临床资料,其中28例患儿行肌电图、运动神经传导速度及感觉神经传导速度等神经电生理检查,24例患儿行腓肠肌活检。结果32例SMA中,SMAⅠ型15例,SMAⅡ型12例,SMAⅢ型5例,均表现为进行性肌无力、肌萎缩,肌张力低下。各型SMA患儿起病年龄及病情轻重有其相应的特点。SMAⅠ型患儿不能竖头,均有呼吸肌受累表现,其中10例有颅神经受累症状。SMAⅡ型患儿能独坐,仅1例出现矛盾呼吸及吞咽困难。SMAⅢ型患儿能独站,其中3例可行走,均无呼吸肌受累表现。肌电图呈神经源性损害,主要表现为自发电位,其出现率为87%,运动单位时限延长(幅度30%～150%)、波幅增高(幅度90%～450%),28%运动神经传导速度轻度减慢(降幅24%～40%),93%肌肉复合动作电位波幅降低(降幅56%～99%),远端潜伏期均正常。感觉神经传导速度及诱发波幅均在正常范围。肌肉活检为典型的神经源性肌萎缩。结论根据临床特点、肌电图及肌活检结果可确诊SMA,重视SMA患儿的呼吸管理,可延长患儿生存时间,提高生活质量。     

儿童型脊髓性肌萎缩症的临床与病理研究

目的：总结42例儿童型(I～III型)脊髓性肌萎缩症(SMA)的临床与病理特征,以探讨儿童型SMA临床与病理学特征及其意义。方法：收集42例做过肌活检的SMA I～III型病例,进行临床、肌肉病理学(常规组织学及组织化学方法)分析。结果：不同型SMA临床各有特点,主要是病情轻重和起病年龄有关。起病越早者,病情越重。肌活检显示SMA I型为大组分布的圆形萎缩肌纤维,而非角形纤维,呈不完全同型肌群化,常累及整个肌束;SMA II型少见大组萎缩肌纤维,同型肌群化突出;SMA III型病理变化多样,以同型肌群化为主。结论：临床表现结合肌电图、肌活检可协助诊断儿童型脊肌萎缩症。     

儿童脊髓性肌萎缩症的基因学研究

目的：研究我国儿童型脊髓性肌萎缩症(SMA)患者的运动神经元生存 (SMN)基因及神经细胞凋亡抑制蛋白 (NAIP)基因外显子的缺失情况,以探讨此二种基因与SMA表型之间的关系。方法：应用PCR和PCR -酶切法检测15例Ⅰ～Ⅲ型SMA患者(Ⅰ型4例,Ⅱ型3例,Ⅲ型8例)、20例表型正常的SMA直系亲属及30例正常对照的SMN基因的第7,8号外显子和NAIP基因的第5 ,6号外显子缺失情况。结果：7例Ⅰ型和Ⅱ型SMA患者中6例纯合缺失SMN基因外显子7和8,1例纯合缺失外显子7而保留外显子8;8例Ⅲ型SMA患者仅1例有外显子7和8的缺失,余7例均无SMN基因的缺失;15例Ⅰ～Ⅲ型SMA患者均未检测到NAIP基因外显子5和 /或 6的缺失。结论：Ⅰ型、Ⅱ型SMA可通过SMN基因第7,8号外显子的检测进行确诊,方法简便可靠,Ⅲ型SMA患者SMN基因缺失率低,故通过检测SMN基因 7,8外显子进行基因诊断尚需谨慎,NAIP基因在SMA发病中的作用尚不清楚,有待进一步研究。     

Treadmill Training in a Child with Cerebral Palsy: A Case Report

This case report describes the use of treadmill training without body weight support to improve walking speed in a child with diplegic cerebral palsy. The child was a six-year-old girl with spastic diplegic cerebral palsy. She walked short distances independently using a posterior support walker but was unable to keep up with her peers walking long distances. Speed of walking 50 feet and speed of walking from her classroom to the cafeteria (458 feet) were timed pretreadmill, posttreadmill, and 3 weeks following treadmill intervention. The GMFM-88 was administered pre- and posttreadmill intervention. Following treadmill intervention, the child's speed of walking increased and she was able to walk to the cafeteria daily with her peers. Improvements in the percent of maximum total score of the GMFM-88 were also observed. The outcomes of this case suggest that the use of short-term, task-specific treadmill intervention might increase a child's walking speed enough to increase their participation in the school setting.     

Fostering Ambulation for a Preschool Child with Rett Syndrome: A Case Report

ABSTRACT

Children with Rett Syndrome (RS) have neuromotor impairments that impact their mobility. Poor hand function among children with RS limits the selection of an assistive device for ambulation. Purpose: The purpose of this case report is to describe the process of selecting an assistive device for a child with RS to promote ambulation. Method: This single subject case reports on a 5-year-old girl with RS at a suburban mid-western early childhood special education setting. Results: The child in this case was able to walk the farthest distances with a metal toy shopping cart and then with an anterior facing four-wheeled walker. Conclusion: The outcome suggests that physical therapists and health professionals caring for young children with RS consider using a metal toy shopping cart to establish and practice ambulation prior to selection of a longer term, adjustable anterior facing walker like the one in this case report.     

Aquatic Physical Therapy for Children with Developmental Coordination Disorder: A Pilot Randomized Controlled Trial

ABSTRACT

Aquatic therapy is an intervention for children with Developmental Coordination Disorder (DCD) that has not been investigated formally. This was a pilot randomized controlled trial to investigate the feasibility and preliminary effectiveness of an aquatic therapy program to improve motor skills of children with DCD. Thirteen children (mean age 7 years 1 month; 10 males) with DCD were randomly allocated to receive either six sessions of aquatic therapy (once weekly session of 30 min for 6–8 weeks) or to a wait-list (control group). The intervention and measures were demonstrated to be feasible, but barriers, such as limited appointment times and accessibility, were encountered. Analysis of covariance indicated that at posttest, mean scores on the Movement Assessment Battery were higher for children who received aquatic therapy compared to those on the wait-list (p = .057). Similar trends were noted on the physical competence portion of the Pictorial Scale of Perceived Competence and Social Acceptance (p = .058). Participation levels, as measured by a parent questionnaire, showed improvement for both groups. Potential facilitators and barriers to implementation of an aquatic therapy for children with DCD are discussed.     

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III

Aims:    The objectives were to evaluate the clinical course of spinal muscular atrophy (SMA) types II and III patients necessitating scoliosis surgery at the National University Hospital, Singapore.
Methods:    A retrospective review of SMA types II and III patients, born over a 10-year period between 1983 and 1992, was conducted.
Results:    There were eight patients: four with SMA type II and four with SMA type III. The mean age at scoliosis surgery was 9 years 7 months (range 7 years 6 months−12 years 4 months). The mean preoperative Cobb angle was 65.4° (range 43−90°) and the mean postoperative Cobb angle was 22.6° (range 12−45°), with a mean correction of 64.8% (range 47.7−77.8%). The decline in percentage predicted forced vital capacity (FVC) was 7.7% (95% CI: 12.4% to 3.0%) per year preoperatively and this was reduced to 3.8% (95% CI: 5.8% to 1.9%) per year postoperatively. The mean length of preoperative and postoperative lung function follow-up was 6.3 months (range 0.03−31 months) and 44 months (range 0−110 months), respectively.
Conclusions:    This study suggests that pulmonary function in SMA types II and III continues to decline after scoliosis surgery, though the rate of decline is less marked. Overall, the combined results from this study and all other previously published studies are conflicting in regard to the effect of scoliosis surgery on pulmonary function in SMA types II and IIII, though half of the studies (3 of 6) did demonstrate a continued decline in lung function postoperatively. This decline in pulmonary function despite spinal stabilization is likely secondary to the progressive neuromuscular weakness of the disease.     

Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report

Aim: To report the effects of below-knee serial casting in two boys with Duchenne muscular dystrophy who presented with well-preserved strength and calf shortening. Methods: Bilateral below-knee serial casts were applied over two weeks with follow-up of daily stretching and wearing of customized night splints. Outcome measures were performed at baseline, 1, 3, 6, and 12 months post-casting. These included measures of calf length, leg strength, motor function, endurance, and spatio-temporal gait parameters. Results: Both boys completed serial casting with gains in muscle length. No adverse effects on strength or motor function were observed over a 12-month follow-up period.     

Use of Abduction restraint in facilitating selected Motor Patterns in a Child with Down Syndrome:

Numerous therapeutic techniques have been advocated for controlling excessive abduction exhibited by some children with Down syndrome. The purpose of this investigation was to determine whether an abductor restraint used in conjunction with neurodevelopmental treatment would facilitate more appropriate movement patterns in (1) prone to sit, (2) sit to prone, (3) prone pivot, and (4) reciprocal crawling. Improved performance was noted in all movements except reciprocal crawling which did not improve during any treatment period. Use of such a restraint should be considered as an adjunct to treatment in the child with Down syndrome and hypotonia.     

脊髓性肌萎缩伴先天性骨折2型一家系报告并文献复习

目的 探讨脊髓性肌萎缩伴先天性骨折2型(SMABF 2)的临床特征.方法 回顾分析2例因ASCC 1基因变异致SMABF 2患儿的临床资料,并复习相关文献.结果 2例患儿为相隔4年出生的同胞兄弟,弟弟为先证者.2例患儿均因生后呼吸浅弱、肌张力低下、多发性关节挛缩收入院,均因呼吸衰竭予有创呼吸支持;均有手指屈曲畸形,双腕...     

Clinicians' Perceptions of the Benefits of Aquatic Therapy for Young Children with Autism

Objective: This purpose of this study was to identify clinicians' perceptions of the benefits of aquatic therapy for young children with autism. Methods: Eighteen aquatic occupational therapists treating young children with autism responded to a survey soliciting their opinions on changes in skill performance resulting from aquatic therapy. Results: A majority of clinicians reported a substantial increase in swim skills, attention, muscle strength, balance, tolerating touch, initiating/maintaining eye contact, and water safety. Conclusion: The impairments, activity limitations, and participation restrictions seen in children with autism can be wide-ranging and outcomes can be difficult to operationally define and measure. In this preliminary study, clinicians identified the areas they perceived as improving as a result of aquatic therapy. This information could help narrow the field of likely outcomes as a first step toward studies of the effectiveness of aquatic therapy for children with autism.     

Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. Our systematic review and meta-analysis aims to explore the efficacy and safety of onasemnogene abeparvovec in SMA patients. We searched PubMed, EMBASE, Web of Science and Cochrane through April 2022. Ten reports enrolling 250 SMA patients were included. CHOP INTEND and motor-milestone significant improvements were detected at both short- and long-term follow-up. Common adverse events included pyrexia, vomiting, thrombocytopenia and elevated aminotransferases. Thrombocytopenia (79.3%, 95%CI: 65.8~90.5) and elevated aminotransferases (71.7%, 95%CI: 62.5~80.1) were more common in SMA patients aged older than 8 months. Despite the paucity of randomized control trial data and low quality of evidence to establish the safety and efficacy of onasemnogene abeparvovec in the treatment of SMA, the data suggest that it is a valuable option for patients with this condition.