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Purpose: As progressive hip dislocation causes pain in children with spastic cerebral palsy (CP) and spasticity needs surgical correction, we aimed to describe clinical and radiographic outcomes in CP patients with painful hip deformity treated with the Castle salvage procedure. Methods: We included all patients operated in the same hospital between 1989 and 2017 with painful spastic hips and femoral head deformity making joint reconstruction unfeasible. We collected clinical and functional data from medical records and evaluated radiographies to classify cases for femoral head shape and migration, type of deformity, spinal deformity, and heterotopic ossification. We investigated quality of life one year after surgery. Results: We analyzed 41 patients (70 hips) with complete medical records. All had severe function compromise GMFCS V (Gross Motor Function Classification System) and heterotopic ossifications, all but one had scoliosis, and most had undergone other surgeries before Castle procedure. Patients were followed up for 77.1 months (mean) after surgery. The mean initial migration index was 73%. Seven patients had complications, being three patients minor (two femur and one tibial fracture) and four majors (patients requiring surgical revision). Quality of life was considered improved by most of the carers (35 children; 85.3%) as level 4/5 according to CPCHILD instrument. No child was able to stand or walk, but moving in and out of bed, of vehicles, and to a chair, remaining seated, or visiting public places was "very easy." Conclusion: We considered most patients (37 patients—90%, 66 hips—94%) as having satisfactory outcomes because they had no or minor complications, absence of pain, free mobility of the lower limbs and were able to sit in a wheelchair. [ABSTRACT FROM AUTHOR]

Background and Purpose: Cerebral palsy (CP) may be considered one of the most common motor disabilities that require a lot of caregiving from mothers or caregivers; therefore, the mothers of children with CP face a lot of difficulties in their caregiving, which in turn may affect the child's quality of life (QOL). This work was conducted to evaluate the impact of the children's functional level in different types of spastic CP, mothers' care burden (CB), and fatigue on the child's QOL. Methods: One hundred thirty‐eight children with different types of spastic CP (unilateral and bilateral) with different levels of the gross motor function classification system (GMFCS), with an age range of 6–12 years, and their mothers with ages ranged from 25 to 45 years, participated in this study. Mother CB, fatigue, and child QOL were measured and compared between different groups by using the Zarit burden Interview (ZBI), Chalder Fatigue Questionnaire (CFQ), and Pediatric Quality of Life Inventory (PedsQL) CP Module, respectively. Results: There were significant differences in all measured variables (ZBI, CFQ, GMFCS, and PedsQL) with p‐value <0.001 among the different spastic groups (unilateral and bilateral CP). However, the results revealed a positive impact of the child's GMFCS, mother's CB, and fatigue level on the quality of the child's life, with a greater effect on those with quadriplegic type. Conclusion: The mother's CB and fatigue should be considered in the rehabilitation of spastic CP children based on their GMFCS, as they have a negative impact on child QOL; therefore, helping the mother with her needs should not be ignored, especially in families with severely spastic CP children and low financial income. [ABSTRACT FROM AUTHOR]

Objectives The present study aimed to investigate whether family functioning (FF) could impact gross motor function, activity, and participation in children with cerebral palsy (CP). Materials & Methods Sixty-seven children with spastic diplegic CP who were admitted to the Special Education and Rehabilitation Clinic were included in the study. The guidelines of the American Academy of Neurology were followed for the diagnosis of spastic diplegia. The type of home where the family lives, the family's average income, the child's age, gender, and number of siblings, and the age and educational level of the child's primary caregiver were recorded. The gross motor function capacity of children with CP was assessed with the Gross Motor Function Classification System (GMFCS). The Pediatric Evaluation of Disability Inventory (PEDI) was used to evaluate activity and participation performance. Results The children living in detached houses had statistically higher PEDI mobility levels than those living in apartments (p < 0.05). PEDI's social function and self-care levels were higher in 12 to 18-year-old children with two siblings (p < 0.05). The age and educational status of the primary caregiver were found to have an important impact on the PEDI scores. According to the results, social function and self-care levels were higher in children whose primary caregivers were 30 to 65 years old and had high levels of education above high school (p < 0.05). The effects of family income and gender on PEDI scores were statistically non-significant (p> 0.05). Variables related to family functioning had no statistically significant effect on GMFCS scores (p> 0.05). Conclusion These factors can enable healthcare providers to collaborate with the families to develop more comprehensive intervention plans emphasizing family strengths and supporting their needs. [ABSTRACT FROM AUTHOR]

Background: Stroke and its associated complications are a major cause of long-term disability worldwide, with spasticity being a common and severe issue. Physical therapy, involving stretching exercises and electrical stimulation, is crucial for managing spasticity. Therefore, this study aimed to evaluate the effects of neuromuscular electrical stimulation (NMES) combined with a conventional rehabilitation program (CRP) on plantarflexor muscle spasticity and walking performance among individuals with chronic stroke. Methods: A pilot randomized clinical trial (RCT) with two groups (active NMES and placebo) was conducted at the physical therapy departments of King Fahad Specialist Hospital, Buraydah, and Sultan Bin Abdulaziz Humanitarian City, Riyadh, Saudi Arabia (November 2020). The assessor and participants were blinded for the group assignment. The active NMES group received exercise and stimulation at the dorsiflexor muscles on the paretic leg for 30 min for 12 sessions. The placebo group received exercise and sham stimulation at the same position and duration as the active group. Of interest were the outcomes for plantarflexor muscle spasticity measured by the modified Ashworth scale (MAS), gait speed measured by 10 m walk test (10-MWT), and functional mobility measured by functional ambulatory category (FAC). Results: Nineteen participants were randomized into active NMES (n = 10) and sham NMES (n = 9) groups, with no significant baseline differences. Within the active NMES group, significant improvements were observed in MAS (p = 0.008), 10-MWT (p = 0.028), and FAC (p = 0.046), while only 10-MWT time improved significantly in the sham NMES group (p = 0.011). Between-group analysis showed that only MAS was significantly lower in the active NMES group (p = 0.006). Percent change analysis indicated a significantly higher increase in percent change for MAS in the active NMES group compared to the sham NMES group (p = 0.035), with no significant differences in other outcome measures. Conclusions: This study showed that NMES in the active group led to significant improvements in spasticity, walking performance, and functional ambulation. Further research is needed to determine the ideal parameters, protocols, and patient selection criteria for NMES interventions in stroke rehabilitation. [ABSTRACT FROM AUTHOR]

Post-stroke spastic movement disorder (PS-SMD) develops in up to 40% of stroke survivors after a first ever stroke within the first year. Chronic PS-SMD is often associated with severe disabilities and complications, emphasizing the importance of its early recognition and early adequate management. Extensive research has aimed to accurately predict and sensitively detect a PS-SMD. Symptomatic therapies include conventional rehabilitation and local intramuscular injections of botulinum toxin A (BoNT-A). The latter is widely used, but primarily in the chronic phase of stroke. However, recent studies have shown the safety and efficacy of BoNT-A therapy even in the acute phase and early sub-acute phase after stroke, i.e., within three months post-stroke, leading to an improved long-term outcome in stroke rehabilitation. Local BoNT-A injections evolve as the primary approach in focal, multifocal, and segmental chronic or acute/subacute PS-SMD. Patients at high risk for or manifest PS-SMD should be identified by an early spasticity risk assessment. By doing so, PS-SMD can be integral part of the patient-centered goal-setting process of a multiprofessional spasticity-experienced team. The benefit of an early PS-SMD treatment by BoNT-A should predominate putative degenerative muscle changes due to long-term BoNT-A therapy by far. This, as early treatment effectively avoids complications typically associated with a PS-SMD, i.e., contractures, pain, skin lesions. The management of PS-SMD requires a comprehensive and multidisciplinary approach. Early assessment, patient-centered goal setting, early intervention, and early use of BoNT-A therapy prevents from PS-SMD complications and may improve rehabilitation outcome after stroke.

Post-stroke spastic movement disorder (PS-SMD) develops in up to 40% of stroke survivors after a first ever stroke within the first year. Chronic PS-SMD is often associated with severe disabilities and complications, emphasizing the importance of its early recognition and early adequate management. Extensive research has aimed to accurately predict and sensitively detect a PS-SMD. Symptomatic therapies include conventional rehabilitation and local intramuscular injections of botulinum toxin A (BoNT-A). The latter is widely used, but primarily in the chronic phase of stroke. However, recent studies have shown the safety and efficacy of BoNT-A therapy even in the acute phase and early sub-acute phase after stroke, i.e., within three months post-stroke, leading to an improved long-term outcome in stroke rehabilitation. Local BoNT-A injections evolve as the primary approach in focal, multifocal, and segmental chronic or acute/subacute PS-SMD. Patients at high risk for or manifest PS-SMD should be identified by an early spasticity risk assessment. By doing so, PS-SMD can be integral part of the patient-centered goal-setting process of a multiprofessional spasticity-experienced team. The benefit of an early PS-SMD treatment by BoNT-A should predominate putative degenerative muscle changes due to long-term BoNT-A therapy by far. This, as early treatment effectively avoids complications typically associated with a PS-SMD, i.e., contractures, pain, skin lesions. The management of PS-SMD requires a comprehensive and multidisciplinary approach. Early assessment, patient-centered goal setting, early intervention, and early use of BoNT-A therapy prevents from PS-SMD complications and may improve rehabilitation outcome after stroke. [ABSTRACT FROM AUTHOR]

PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that manifest Hereditary Spastic Paraplegia (HSP) is the only symptom without hypomyelinating leukodystrophy. This is the first study that report the PYCR2 gene variants as a cause of HSP in late childhood. We believe it can contribute to expanding the spectrum of the phenotypes associated with PYCR2. It is a retrospective study. Of the patients with similar clinical features from two related families, "patient 1" was designated as the index case, and was analyzed using Whole Exome Squence analysis (WES). The detected variation was investigated in the index case's parents, relatives, and sibling with a similar phenotype. Clinical, brain magnetic resonance (MR) images and MR spectroscopic findings of the patients were reported. A novel homozygous missense (NM_013328: c.383T > C, p.V128A) variant in the PYCR2 gene is detected in 5 patient from 2 related families. All the patients were male, their ages ranges from 6 to 26 years (15.58 ± 8,33 yrs). Developmantal milestones were normal without dysmorphic features. 4 (%80) patients exhibit mild intention tremor started at the age of approximately 6 years of age. 4 (%80) patients had gait difficulty and progressive lower limb spasticity started at the age of 8–12 years. White matter myelination was normal in all patients. Glycine peakes were detected on the MR spectroscopy in all patients. Some variants of PYCR2 gene are responsible for causing clinical features of HSP without hypomyelinating leukodystrophy in the pediatric patients. • PYCR2 gene variants can cause Hereditary Spastic Paraplegia (SPG) in the late childhood period. • Normal Brain MRI can de seen in PYCR2 gene variants although they are associated with hypomyelinating leukodystrophy type 10. • MR spectroscopy findings are helpful for diagnosis. [ABSTRACT FROM AUTHOR]

Background: Stroke and its associated complications are a major cause of long-term disability worldwide, with spasticity being a common and severe issue. Physical therapy, involving stretching exercises and electrical stimulation, is crucial for managing spasticity. Therefore, this study aimed to evaluate the effects of neuromuscular electrical stimulation (NMES) combined with a conventional rehabilitation program (CRP) on plantarflexor muscle spasticity and walking performance among individuals with chronic stroke. Methods: A pilot randomized clinical trial (RCT) with two groups (active NMES and placebo) was conducted at the physical therapy departments of King Fahad Specialist Hospital, Buraydah, and Sultan Bin Abdulaziz Humanitarian City, Riyadh, Saudi Arabia (November 2020). The assessor and participants were blinded for the group assignment. The active NMES group received exercise and stimulation at the dorsiflexor muscles on the paretic leg for 30 min for 12 sessions. The placebo group received exercise and sham stimulation at the same position and duration as the active group. Of interest were the outcomes for plantarflexor muscle spasticity measured by the modified Ashworth scale (MAS), gait speed measured by 10 m walk test (10-MWT), and functional mobility measured by functional ambulatory category (FAC). Results: Nineteen participants were randomized into active NMES (n = 10) and sham NMES (n = 9) groups, with no significant baseline differences. Within the active NMES group, significant improvements were observed in MAS (p = 0.008), 10-MWT (p = 0.028), and FAC (p = 0.046), while only 10-MWT time improved significantly in the sham NMES group (p = 0.011). Between-group analysis showed that only MAS was significantly lower in the active NMES group (p = 0.006). Percent change analysis indicated a significantly higher increase in percent change for MAS in the active NMES group compared to the sham NMES group (p = 0.035), with no significant differences in other outcome measures. Conclusions: This study showed that NMES in the active group led to significant improvements in spasticity, walking performance, and functional ambulation. Further research is needed to determine the ideal parameters, protocols, and patient selection criteria for NMES interventions in stroke rehabilitation.

Children with hemiplegic cerebral palsy (CP) are at risk of reduced upper limb function and poorer quality of life than their typically developing peers. Although upper limb impairments have potential negative impact on the health-related quality of life (HRQOL) in children with hemiplegic CP, the efficacy of upper limb rehabilitation approaches aiming to improve upper limb impairments on HRQOL has not been adequately investigated. This study compares the efficacy of two modes of activity-based upper limb rehabilitation (modified constraint-induced movement therapy [mCIMT] and bimanual training [BIM]) on HRQOL outcomes in children with hemiplegic CP mainstreamed in regular schools. Thirty children with hemiplegic CP aged between 7 and 11 years (mean age 8.53 ± 1.54 years) who had functional ability levels of I–III according to the Manual Ability Classification System (MACS), Gross Motor Classification System (GMFCS), and Communication Function Classification System (CFCS) were randomly assigned to receive mCIMT or BIM training. Result: Both mCIMT and BIM yielded statistically significant improvements in all HRQOL domains immediately after the 10-week interventions (P <.001), which were retained at 16 weeks. While there were some differences in the intervention effects, both of these upper limb rehabilitation approaches based on intensive unimanual or bimanual activity may be beneficial for improving perceived life satisfaction related to physical activity, general mood, family, friends, and school among children with hemiplegic CP mainstreamed in regular schools. [ABSTRACT FROM AUTHOR]

PURPOSE: This study evaluated the effects of an instrumented balance board on the balance parameters in children with spastic cerebral palsy by carrying out a pilot single-group pre-post clinical trial. METHODS: Five children aged 5 to 15 years with spastic diplegia and a Gross Motor Function Classification System level of I or II were included. All participants attended 20 sessions with an instrumented balance board, 45 minutes per session, 3 times a week for 7 weeks. The main outcome measures included the center of pressure excursion, velocity, and overshoot during quiet standing with open and closed eyes. The assessments were performed in the mediolateral and anteroposterior directions at pre- and one week post-intervention. RESULTS: Non-parametric tests showed that the excursion did not change significantly except in the mediolateral direction with eyes closed (p < 0.05). The velocity of the center of pressure improved in both directions and eye conditions (p < 0.05). Also, the maximum velocity decreased with eyes open (mediolateral, anteroposterior, and total) (p < 0.05), while the change was not significant with the eyes closed. The overshoot measurements did not change significantly. CONCLUSION: It is recommended to consider balance board training for improving balance parameters in children with cerebral palsy. [ABSTRACT FROM AUTHOR]

Objective To analyze how Pilates exercises affect standing, walking, and balance in children with diplegic cerebral palsy throughout a 10-week program. Methods We included 40 children aged 7–9 years with diplegic cerebral palsy, and randomly allocated them into two groups of the same size: conventional therapy group (group A) and conventional therapy+Pilates group (group B). We administered the same conventional physical therapy program to both groups for 45 minutes, with group B receiving additional Pilates exercises for 45 minutes. Both groups attended the intervention program three times/week for 10 weeks. We used the Growth Motor Function Measure Scale (GMFM-88) to evaluate standing and walking (Dimensions D and E), and the Pediatric Balance Scale to evaluate balance function before and after treatment. Results Comparison of the average values of all measured variables before and after therapy showed a statistically significant difference (p

Purpose: Total hip arthroplasty (THA) is a successful treatment for hip osteoarthritis secondary to hip dysplasia. However, the reported rate of complications following THA in the settings of neuromuscular diseases is high. This systematic review aimed to analyze the indications, functional outcomes and surgical failures of primary THA in cerebral palsy (CP) patients.Methods: MEDLINE, EMBASE and the Cochrane Database of Systematic Reviews were searched, and all clinical studies focusing on THA in patients with CP from inception through March 2020 were included. The methodological quality was assessed with Guo et al.'s quality appraisal checklist for case series and case-control studies, while cohort and prospective studies were evaluated with a modified version of the Downs and Black's quality assessment checklist.Results: The initial search returned 69 studies out of which 15, including 2732 THAs, met the inclusion criteria. The most frequent indication for THA was dislocated painful hip for which previous non-operative treatment had failed. Complications presented in 10 to 45% of cases. The most frequently reported complication was dislocation (1-20%), followed by component loosening (0.74-20%). Aseptic component loosening was the most frequent cause of revision surgery, followed by dislocation and periprosthetic fracture. Mean implant survival at ten years was 84% (range 81-86%).Conclusion: The available literature suggests that although THA is a beneficial procedure in CP patients, it has a higher rate of complications and worse implant survival than the general population. [ABSTRACT FROM AUTHOR]

To summarize the application of bispectral index (BIS) during single-level selective dorsal rhizotomy (SL-SDR) for children with cerebral palsy (CP). Methods From March 2019 to March 2022, retrospective review was performed for 43 CP children undergoing SL-SDR. BIS was monitored during SL-SDR. They were divided into two groups of D (disturbance) and N (normal) according to the presence or absence of electromyographic disturbance. Gender, age, weight, type of CP, gross motor function classification system, mode of intravenous anesthesia, drug dose and dorsal root threshold ratio were recorded. At the same time, BIS values of group D from the beginning of electrophysiological stimulation to initial occurrence of electromyographic disturbance and group N from the beginning to the end of electrophysiological stimulation were compared. Results There were electromyographic disturbance (n=22) and non-disturbance (n=21). No significant inter-group differences existed in demographic characteristic, type of cerebral palsy, gross motor function classification system, anesthesia mode dosage or threshold ratio (P>0. 05). The mean BIS value of group D (53. 4±7. 2) was significantly higher than that of group N (46. 1±9. 4)(t=11. 889, P=0. 007). According to the results of Logistic regression analysis, BIS value was an independent risk factor for electromyography disturbance in SL-SDR during intraoperative neurophysiological monitoring [OR=1. 154, 5%CI(1. 035-1. 287), P=0. 01]. Conclusion During SL-SDR neurophysiological monitoring, BIS value is an independent risk factor for electromyographic disturbance. And BIS ≥51 may be employed as an indicator for predicting the occurrence of electromyographic disturbance. [ABSTRACT FROM AUTHOR]

Partially resecting some spinal dorsal nerve roots can effectively lower abnormally heightened excitability of α motor neurons in anterior horns of spinal cord, directly causing corresponding muscle spasticity in patients with spastic cerebral palsy. Therefore such surgical procedure has potentials of reducing muscle tone of spastic muscles and improving motor functions. Due to the fact that several scores of root candidates are associated with sensory input from lower extremities in each case, precisely "selecting" roots for sectioning stays always at the core of surgery. Evoked electromyography (EMG), as one modality of intra-operative neurophysiological monitoring, is offering a practical approach to accomplish the task of "precise selection" of nerve root. For acquiring stable and interpretable evoked EMG data during selective dorsal rhizotomy (SDR), some requirements should be fulfilled. For example, an appropriate depth of anesthesia, muscle group selection for monitoring and proper electrical stimulation parameters. Train and single-pulse stimulation are currently the two most practiced stimulation patterns. Applying different stimulation patterns may lead to a different selection of nerve roots for resecting. Our objective was to formulate an intra-operative evoked EMG interpretation protocol of guiding more precisely to attain the goal of "selection" during SDR. [ABSTRACT FROM AUTHOR]

Wrist arthrodesis in spastic patients combined with proximal row carpectomy and ostectomy of the distal radius to allow a position of slight flexion (COF technique) results in a better outcome when compared to arthrodesis after proximal row carpectomy only technique. Level of evidence: III., Competing Interests: Declaration of conflicting interestsThe author declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Abstract Background Adaptive seating is commonly used as an intervention method to enhance postural control. The aim of this study is to investigate the effect of using therapy ball as a seat alternative to using typical chair on grasping and visual motor integration in the children with hemiparetic cerebral palsy. For this aim, thirty children with hemiparetic cerebral palsy from both sexes were included in this study. The children ages ranged from 3 to 6 years old. The degree of spasticity was 1 to 1+ according to modified Ashworth scale. The children were able to sit independently and follow instructions. Children were randomly assigned into two groups (experimental group and control group). Each child was evaluated before and after 3 successive months of selected occupational therapy exercises program. All the children of both groups received the same selected occupational therapy exercises program, but the children in the experimental group performed the exercises while sitting on therapy ball, and the children in the control group performed the exercises while sitting on typical chair. Results There was a significant improvement in the measured variables for both groups after treatment. The post-treatment results of the two groups of grasping and visual motor integration for age equivalent scores revealed significant difference (p=0.008 and p=0.011 respectively) in favor of the experimental group. Conclusions Therapy ball could be used as a seat alternative to using typical chair to facilitate visual motor integration and grasping in the children with hemiparetic cerebral palsy.

Introduction  Cerebral palsy (CP) excerpts a heterogeneous corral of neurological disorders occurring due to injury to the developing brain leading to motor dysfunctions. The CP children enjoy success and progress in normal school education and curriculum program. The principle of inclusive education has been acknowledged over recent decades in all countries supporting the schooling of children with disabilities into mainstream settings for constructing an inclusive society. Objective  The objective of this study was to determine the current status of physical impairments in children with CP in inclusive education settings in district Mandi, Himachal Pradesh. Materials and Methods  A survey using the physical examination of all CP children (n  = 20) between the age group of 6 and 12 years in inclusive education settings with an organized interview of special educators in school settings was conducted. Descriptive analysis was conducted by using SPSS IBM 22. Results  A total of 20 CP children (11 boys and 9 girls, with the mean age of 9.8 ± 1.69) were enrolled in the study. Mean and standard deviation of Visual Analog Scale (6.5 ± 0.82), Pediatric Balance Scale (21.4 ± 17.1), Gross Motor Function Classification System, Expanded and Revised (2.8 ± 1.46), Manual Ability Classification System (2.5 ± 1.1), Gross Motor Function Measurement-88 (36.40 ± 22.94), and Goal Attainment Scale (35.9 ± 0.40) with the total WeeFIM score (75.7 ± 3.4) were analyzed as the score of all outcome measures. Conclusion  Right to Education act promotes the compulsory education of such children, and limiting disability by knowing the current profile of impairments could help in improving physical and functional status in children. [ABSTRACT FROM AUTHOR]

Glycine receptors (GlyRs) are the primary mediators of fast inhibitory transmission in the mammalian spinal cord, where they modulate sensory and motor signaling. Mutations in GlyR genes as well as some other genes underlie the hereditary disorder hyperekplexia, characterized by episodic muscle stiffness and exaggerated startle responses. Here, we have investigated pain-related behavior and GlyR expression in the spinal cord of the GlyR deficient mutant mouse spastic (spa). In spastic mice, the GlyR number is reduced due to a β subunit gene (Glrb) mutation resulting in aberrant splicing of GlyRβ transcripts. Via direct physical interaction with the GlyR anchoring protein gephyrin, this subunit is crucially involved in the postsynaptic clustering of heteromeric GlyRs. We show that the mutation differentially affects aspects of the pain-related behavior of homozygous Glrbspa/Glrbspa mice. While response latencies to noxious heat were unchanged, chemically induced pain-related behavior revealed a reduction of the licking time and an increase in flinching in spastic homozygotes during both phases of the formalin test. Mechanically induced nocifensive behavior was reduced in spastic mice, although hind paw inflammation (by zymosan) resulted in allodynia comparable to wild-type mice. Immunohistochemical staining of the spinal cord revealed a massive reduction of dotted GlyRα subunit immunoreactivity in both ventral and dorsal horns, suggesting a reduction of clustered receptors at synaptic sites. Transcripts for all GlyRα subunit variants, however, were not reduced throughout the dorsal horn of spastic mice. These findings suggest that the loss of functional GlyRβ subunits and hence synaptically localized GlyRs compromises sensory processing differentially, depending on stimulus modality. [ABSTRACT FROM AUTHOR]

Objectives: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. Methods: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). These scores were classified into mild–moderate (level I–III)/severe (level IV–V) categories. Results: A total of 113 children (mean age 4.9 ± 3.4 y, 66.4% boys) were enrolled. MDs were noted in 52 (46%) children; the most frequent were dystonia (28%), chorea (14%), choreoathetosis (8%). Of 64 children with quadriparetic CP, 27 (42.2%) demonstrated MDs. Of 19 children with hemiparetic CP, 2 (10.5%) had MDs. Of 16 children with dyskinetic CP, 15 (93%) had MDs. Children with dyskinetic CP had significantly higher frequency of MDs (p = 0.001). There was no difference in occurrence of all MDs or dystonia aloneamongst the two categories (mild–moderate/severe) of GMFCS E&R levels, CFCS levels or MACS levels. Conclusion: Although diverse MDs occur frequently in CP, these do not correlate with the broad functional status of the child. The study is limited by small sample size. [ABSTRACT FROM AUTHOR]

Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lack of spasticity, hearing loss, and epileptic seizures. Currently, there have been very few case reports regarding the SACS gene mutation in Chinese patients. Here, we describe a 35-year-old Chinese patient carrying a novel variant in SACS (c.11486C>T) presenting with progressive ataxia and demyelinating peripheral neuropathy. We then reviewed 22 Chinese cases carrying SACS gene mutations, including our patient. All of them had a cerebellar ataxia gait and showed cerebellar atrophy on brain magnetic resonance imaging (MRI). A total of 28 SACS mutations were identified in these patients. Our study further expands the mutation spectrum of the SACS gene and contributes to the evaluation of genotype-phenotype correlations. [ABSTRACT FROM AUTHOR]

In this report we describe a case of first episode of spastic cerebellar ataxia post COVID-19 infection, its clinical presentation, and treatment and rehabilitation outcome. The ataxia was generalized and multifocal with an acute onset within two weeks of infection. This case report highlights the need of early rehabilitation along with medical treatment in spastic ataxic syndrome post Covid-19 infection.

Glycine receptors (GlyRs) are the primary mediators of fast inhibitory transmission in the mammalian spinal cord, where they modulate sensory and motor signaling. Mutations in GlyR genes as well as some other genes underlie the hereditary disorder hyperekplexia, characterized by episodic muscle stiffness and exaggerated startle responses. Here, we have investigated pain-related behavior and GlyR expression in the spinal cord of the GlyR deficient mutant mouse spastic (spa). In spastic mice, the GlyR number is reduced due to a β subunit gene (Glrb) mutation resulting in aberrant splicing of GlyRβ transcripts. Via direct physical interaction with the GlyR anchoring protein gephyrin, this subunit is crucially involved in the postsynaptic clustering of heteromeric GlyRs. We show that the mutation differentially affects aspects of the pain-related behavior of homozygous Glrbspa/Glrbspa mice. While response latencies to noxious heat were unchanged, chemically induced pain-related behavior revealed a reduction of the licking time and an increase in flinching in spastic homozygotes during both phases of the formalin test. Mechanically induced nocifensive behavior was reduced in spastic mice, although hind paw inflammation (by zymosan) resulted in allodynia comparable to wild-type mice. Immunohistochemical staining of the spinal cord revealed a massive reduction of dotted GlyRα subunit immunoreactivity in both ventral and dorsal horns, suggesting a reduction of clustered receptors at synaptic sites. Transcripts for all GlyRα subunit variants, however, were not reduced throughout the dorsal horn of spastic mice. These findings suggest that the loss of functional GlyRβ subunits and hence synaptically localized GlyRs compromises sensory processing differentially, depending on stimulus modality.

Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lack of spasticity, hearing loss, and epileptic seizures. Currently, there have been very few case reports regarding the SACS gene mutation in Chinese patients. Here, we describe a 35-year-old Chinese patient carrying a novel variant in SACS (c.11486C>T) presenting with progressive ataxia and demyelinating peripheral neuropathy. We then reviewed 22 Chinese cases carrying SACS gene mutations, including our patient. All of them had a cerebellar ataxia gait and showed cerebellar atrophy on brain magnetic resonance imaging (MRI). A total of 28 SACS mutations were identified in these patients. Our study further expands the mutation spectrum of the SACS gene and contributes to the evaluation of genotype-phenotype correlations.

Objective To analyze how Pilates exercises affect standing, walking, and balance in children with diplegic cerebral palsy throughout a 10-week program. Methods We included 40 children aged 7-9 years with diplegic cerebral palsy, and randomly allocated them into two groups of the same size: conventional therapy group (group A) and conventional therapy+Pilates group (group B). We administered the same conventional physical therapy program to both groups for 45 minutes, with group B receiving additional Pilates exercises for 45 minutes. Both groups attended the intervention program three times/week for 10 weeks. We used the Growth Motor Function Measure Scale (GMFM-88) to evaluate standing and walking (Dimensions D and E), and the Pediatric Balance Scale to evaluate balance function before and after treatment. Results Comparison of the average values of all measured variables before and after therapy showed a statistically significant difference (p<0.05) between the two groups. All measured variables showed a significant difference between groups A and B, in favor of group B (p<0.05). Conclusion Pilates exercise in addition to conventional therapy is more effective in improving balance and gross motor function in children with diplegic cerebral palsy than the conventional therapy alone. [ABSTRACT FROM AUTHOR]

Purpose: The research aims to conduct a pilot study and monitor the effectiveness of a method of muscle-inhibition techniques applied to soft tissue contractures of the hip complex in children with cerebral palsy. Material/Methods: eight children with spastic quadriparesiswere studied by means of goniometric measurements, palpatory evaluations of the muscle tone, and tests to detect myo-articular contractures in the hip complex. The test battery was applied on the children both before and after they had gone through 30-day physiotherapy that included sessions of myo-articular mobilisation, post-isometric relaxation and stretching. Each of the muscleinhibiting techniques was applied 6-8 times, accompanied by stretching in the final range that continued until the co-contraction disappeared, followed by re-stretching enabled by the gained volume of movement in the joint. The duration of the stretching varied from one child to the next depending on the extent of activation of the Golgi reflex. At the maximum range of motion, the stretch hold was about 50-60 seconds. Results: The results of the study show that X of the passive hip extension on the first day was 3.7°+4.282, indicating its severe limitation. After the 30-day physiotherapy, the mean values reached 12,19°+4,07°, in other words, the indicator had improved by 8,44°+4,07°. On the first day, passive flexion of X=103.1°+ 13.77° was established in the hip joint; in the second study, this value was X = 120.0°+ 10.17°. Flexibility in the hip joint increased by 16.9°. The abduction in the joint on the first day of the study had values of X=20.94+7.793, which by the 30th day had increased to 36.25+8.466. P-values indicate that the physiotherapy model applied had resulted in statistically significant differences in the test parameters. Conclusion: The applied method of muscle-inhibition techniques is effective in children with spastic quadriparesis and restores the soft tissue and articular mobility of the hip complex.

A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit. The identified SNPs are localized within the gene flanking regions (3′ and 5′ UTRs) and intronic regions. It was suggested that these nucleotide polymorphisms modify GlyRs expression and phenotypic behavior in humans contributing to an anxiety phenotype as a mild form of hyperekplexia. Hyperekplexia is a human neuromotor disorder with massive startle phenotypes due to mutations in genes encoding GlyRs subunits. GLRA1 mutations have been more commonly observed than GLRB mutations. If an anxiety phenotype contributes to the hyperekplexia disease pattern has not been investigated yet. Here, we compared two mouse models harboring either a mutation in the murine Glra1 or Glrb gene with regard to anxiety and startle phenotypes. Homozygous spasmodic animals carrying a Glra1 point mutation (alanine 52 to serine) displayed abnormally enhanced startle responses. Moreover, spasmodic mice exhibited significant changes in fear-related behaviors (freezing, rearing and time spent on back) analyzed during the startle paradigm, even in a neutral context. Spastic mice exhibit reduced expression levels of the full-length GlyRs β subunit due to aberrant splicing of the Glrb gene. Heterozygous animals appear normal without an obvious behavioral phenotype and thus might reflect the human situation analyzed in the GWAS study on agoraphobia and startle. In contrast to spasmodic mice, heterozygous spastic animals revealed no startle phenotype in a neutral as well as a conditioning context. Other mechanisms such as a modulatory function of the GlyRs β subunit within glycinergic circuits in neuronal networks important for fear and fear-related behavior may exist. Possibly, in human additional changes in fear and fear-related circuits either due to gene-gene interactions e.g., with GLRA1 genes or epigenetic factors are necessary to create the agoraphobia and in particular the startle phenotype.

Spasticity and motor recovery are both related to neural plasticity after stroke. A balance of activity in the primary motor cortex (M1) in both hemispheres is essential for functional recovery. In this study, we assessed the intracortical inhibitory and facilitatory circuits in the contralesional M1 area in four patients with severe upper limb spasticity after chronic stroke and treated with botulinum toxin-A (BoNT-A) injection and 12 weeks of upper limb rehabilitation. There was little to no change in the level of spasticity post-injection, and only one participant experienced a small improvement in arm function. All reported improvements in quality of life. However, the levels of intracortical inhibition and facilitation in the contralesional hemisphere were different at baseline for all four participants, and there was no clear pattern in the response to the intervention. Further investigation is needed to understand how BoNT-A injections affect inhibitory and facilitatory circuits in the contralesional hemisphere, the severity of spasticity, and functional improvement.

Introduction: The purpose of this study was to identify the demographic and clinical characteristics of patients with cerebral palsy (SP) who applied to the Physical Therapy and Rehabilitation Center and to increase the awareness of physicians and therapists on this subject. Methods: The data of 224 patients who applied for treatment between July 2015 and August 2017 were retrospectively reviewed. This data included clinical and demographic characteristics, such as age, sex, SP type, additional disorders, and treatments. Results: A total of 204 patients were analyzed. Eighty-six of the patients were women and 118 were men. Average of age and age of diagnosis were 10, 35 years, 14.5 months. Distribution according to SP types was as follows: spastic 167 (81.8%), diplegic 50 (24.5%), tetraplegic 93 (45.6%), hemiplegic 24 (11.8%), and mixed 14 (6.9%) patients. The functional levels of the patients were first rank with 26% grade 4 according to the Gross Motor Function Classification System (GMFCS) and 27.5% grade 1 according to the Manual Ability Classification System (MACS). Of the etiologic risk factors, premature birth was the most common with 41.1% and asphyxia was the second with 25.4%. In the additional problems observed in SP, speech disorder was the most common with 57.8%, followed by mental retardation 44.6% and epilepsy 32.3%. Overall, 78.9% of the patients had previously received physiotherapy, 43.1% had used orthotics, and 30.9% had undergone musculoskeletal surgery. In total, 27.8% of the orthoses used were foot, ankle orthosis. Conclusion: Precautions should be taken to reduce the perinatal causes, which are the most common in SP etiology, such as improvement and dissemination of neonatal care centers, close follow-up of risky babies, and early diagnosis and treatment. The majority of SP patients constitute spastic diplegic and tetraplegic types, and additional problems, such as speech impairment, mental retardation, and epilepsy are more common. This necessitates the continuation of SP treatment with a multidisciplinary approach.

Spasticity and motor recovery are both related to neural plasticity after stroke. A balance of activity in the primary motor cortex (M1) in both hemispheres is essential for functional recovery. In this study, we assessed the intracortical inhibitory and facilitatory circuits in the contralesional M1 area in four patients with severe upper limb spasticity after chronic stroke and treated with botulinum toxin-A (BoNT-A) injection and 12 weeks of upper limb rehabilitation. There was little to no change in the level of spasticity post-injection, and only one participant experienced a small improvement in arm function. All reported improvements in quality of life. However, the levels of intracortical inhibition and facilitation in the contralesional hemisphere were different at baseline for all four participants, and there was no clear pattern in the response to the intervention. Further investigation is needed to understand how BoNT-A injections affect inhibitory and facilitatory circuits in the contralesional hemisphere, the severity of spasticity, and functional improvement. [ABSTRACT FROM AUTHOR]

A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit. The identified SNPs are localized within the gene flanking regions (3′ and 5′ UTRs) and intronic regions. It was suggested that these nucleotide polymorphisms modify GlyRs expression and phenotypic behavior in humans contributing to an anxiety phenotype as a mild form of hyperekplexia. Hyperekplexia is a human neuromotor disorder with massive startle phenotypes due to mutations in genes encoding GlyRs subunits. GLRA1 mutations have been more commonly observed than GLRB mutations. If an anxiety phenotype contributes to the hyperekplexia disease pattern has not been investigated yet. Here, we compared two mouse models harboring either a mutation in the murine Glra1 or Glrb gene with regard to anxiety and startle phenotypes. Homozygous spasmodic animals carrying a Glra1 point mutation (alanine 52 to serine) displayed abnormally enhanced startle responses. Moreover, spasmodic mice exhibited significant changes in fear-related behaviors (freezing, rearing and time spent on back) analyzed during the startle paradigm, even in a neutral context. Spastic mice exhibit reduced expression levels of the full-length GlyRs β subunit due to aberrant splicing of the Glrb gene. Heterozygous animals appear normal without an obvious behavioral phenotype and thus might reflect the human situation analyzed in the GWAS study on agoraphobia and startle. In contrast to spasmodic mice, heterozygous spastic animals revealed no startle phenotype in a neutral as well as a conditioning context. Other mechanisms such as a modulatory function of the GlyRs β subunit within glycinergic circuits in neuronal networks important for fear and fear-related behavior may exist. Possibly, in human additional changes in fear and fear-related circuits either due to gene-gene interactions e.g., with GLRA1 genes or epigenetic factors are necessary to create the agoraphobia and in particular the startle phenotype. [ABSTRACT FROM AUTHOR]

Characterization of the musculoskeletal system is essential for diagnosis providing the implications for therapy corresponding to causes of the diseases. This paper presents a characterization of an ankle neuromuscular system of patients with spasticity, to provide quantitative pathological level of the ankle spasticity with biomechanical and neurological disorders. Measurements from manual spasticity evaluation combined with a suggested neuromuscular model and parameter optimization process enabled a reliable characterization of the spastic ankle flexors. The model included two non-neural parameters representing the viscoelasticity of the muscle and four neural parameters showing the dynamics of muscle activation and corresponding force only using the measured joint angle and resistance torque. Torque contributions from non-neural parameters especially elastic properties of muscle was greater than 50% of the overall torque, common in both patients with spasticity and healthy controls. Among subgroups of the patients, subjects with short post diseases period less than 5 years, had higher torque contribution level from neural components more than 50% of the overall torque compared to the patients with longer post diseases period more than 10 years who had overall torque less than 30% of the total estimated torque. We concluded that proposed model based ankle flexor characterization served as a tools for diagnosing the patients with spasticity corresponding to their causes of diseases with both quantified neural and non-neural parameters. [ABSTRACT FROM AUTHOR]

Purpose: In paralysis spastic cerebral treatment outcome will be mostly below normal. It is difficult to assess to what extent the functional capacity contributed treatment or development of the nervous system itself. Methods: Medical recovery team has the task to remove or improve as much as possible the state of physical disability, mental or social an individual to restore its ability to live in an integrated manner psychically, psychosocial. Results: This paper is based on a personal study conducted with patients diagnosed with infantile cerebral spastic tetraparesis in various stages of development. These patients received treatment in complex recovery. To an even larger child who has not worked for a long time or place, it is easy to obtain an increase in motor function with 2-8% using unsuspected resources. In spastic tetraplegia spontaneous evolution is unfavorable. Contribution spa programs physio-kinetic-therapy was totally important remarking efficient total thermal bath at a temperature of 36.4 to 36.5 degrees C associated with kinetic exercises in water and kinesiology as a whole. Conclusions: The essential condition for the success of therapy is gaining maximum cooperation and conscious participation of the child and the mother, since kinetic endorsed program and neuro-myo-artrokinetică hygiene should be continued at home.

Background: Dysarthria refers to a group of disorders resulting from disturbances in muscular control over the speech mechanism due to damage of central or peripheral nervous system. There is wide subjective variability in assessment of dysarthria between different clinicians. In our study, we tried to identify a pattern among types of dysarthria by acoustic analysis and to prevent intersubject variability. Objectives: (1) Pattern recognition among types of dysarthria with software tool and to compare with normal subjects. (2) To assess the severity of dysarthria with software tool. Materials and Methods: Speech of seventy subjects were recorded, both normal subjects and the dysarthric patients who attended the outpatient department/admitted in AIMS. Speech waveforms were analyzed using Praat and MATHLAB toolkit. The pitch contour, formant variation, and speech duration of the extracted graphs were analyzed. Results: Study population included 25 normal subjects and 45 dysarthric patients. Dysarthric subjects included 24 patients with extrapyramidal dysarthria, 14 cases of spastic dysarthria, and 7 cases of ataxic dysarthria. Analysis of pitch of the study population showed a specific pattern in each type. F0 jitter was found in spastic dysarthria, pitch break with ataxic dysarthria, and pitch monotonicity with extrapyramidal dysarthria. By pattern recognition, we identified 19 cases in which one or more recognized patterns coexisted. There was a significant correlation between the severity of dysarthria and formant range. Conclusions: Specific patterns were identified for types of dysarthria so that this software tool will help clinicians to identify the types of dysarthria in a better way and could prevent intersubject variability. We also assessed the severity of dysarthria by formant range. Mixed dysarthria can be more common than clinically expected.

Purpose: To investigate the correlation between clinical features of strabismus and motor dysfunction classified according to the Gross Motor Function Classification System (GMFCS) in patients with spastic cerebral palsy (CP). Methods: In this retrospective, cross-sectional study in single tertiary medical center, 62 patients who are diagnosed with spastic CP who had an ophthalmic examination between 2006 and 2014 were included. Only patients with vision sufficient to fixate were included and patients with restrictive or paralytic strabismus were excluded. The types of CP were classified as diplegia, hemiplegia, or quadriplegia for distribution of motor impairment. The GMFCS was used to grade gross motor dysfunction, which was then classified as mild (grade 1, 2 and 3) or severe (grade 4 and 5) motor impairment. Strabismus was investigated in terms of direction, constancy, and deviation angle. The relationship between strabismus characteristics and the level of GMFCS and type of CP were assessed. Results: Thirty-eight and 24 patients had mild or severe motor deficit, respectively. Forty patients had strabismus, which was more frequent in patients with severe motor impairment.(P =.014) Exotropia and esotropia occurred with similar frequency. Constant and large-angle strabismus was frequently observed in patients with severe motor impairment.(P <.005, 0.027) The topographical subtype of CP was not related to clinical features of strabismus. Conclusions: The prevalence of strabismus is higher in severe motor impairment. The constancy and angle of strabismus was related to the severity of motor impairment while the topographical subtype of CP has no significant relationship. [ABSTRACT FROM AUTHOR]

Inherited disorders of spasticity or ataxia exist on a spectrum with overlapping causative genes and phenotypes. We investigated the use of whole-genome sequencing (WGS) to detect a genetic cause when considering this spectrum of disorders as a single group. We recruited 18 Korean individuals with spastic paraplegia with or without cerebellar ataxia in whom common causes of hereditary cerebellar ataxia and hereditary spastic paraplegia had been excluded. We performed WGS with analysis for single nucleotide variants, small insertions and deletions, copy number variants (CNVs), structural variants (SVs) and intronic variants. Disease-relevant variants were identified in ABCD1 (n = 3), CAPN1 (n = 2), NIPA1 (n = 1) and PLA2G6 (n = 1) for 7/18 patients (38.9%). A 'reverse phenotyping' approach was used to clarify the diagnosis in individuals with PLA2G6 and ABCD1 variants. One of the ABCD1 disease-relevant variants was detected on analysis for intronic variants. No CNV or SV causes were found. The two males with ABCD1 variants were initiated on monitoring for adrenal dysfunction. This is one of only a few studies to analyse spastic-ataxias as a continuous spectrum using a single approach. The outcome was improved diagnosis of unresolved cases for which common genetic causes had been excluded. This includes the detection of ABCD1 variants which had management implications. Therefore, WGS may be particularly relevant to diagnosing spastic ataxias given the large number of genes associated with this condition and the relatively high diagnostic yield. [ABSTRACT FROM AUTHOR]

Introduction: The impact of single stage multilevel soft tissue surgeries needs to be evaluated in spastic cerebral palsy children to offer a convenient treatment option for the majority of children who are lost to follow-up. Aim: Assessment of improvement in functional abilities and locomotion after single stage multilevel soft tissue surgery by using Gross Motor Functional Classification Scale (GMFCS) scores, Functional Mobility Scores (FMS) and physical examination and to study the different complications associated with this method of treatment. Materials and Methods: This was a prospective study where, a total of 20 patients (17 boys, 3 girls; mean age 7 years 3 months; range 4 to 14 years) with spastic cerebral palsy were included. Single stage multilevel soft tissue surgery was performed. Various operative procedures done were fractional lengthening of hamstring tendon, adductor tenotomy and release, lengthening of achilles tendon using white’s method, Vulpius release and posterior tibial tendon transfer. Pre and post operative physical examination was done and GMFCS scores as well as FMS scores were calculated. The patients were followed up for six months using the above mentioned parameters. Results: All patients showed an improvement of atleast one GMFCS level (p