Selective motor control correlates with gross motor ability, functional balance and gait performance in ambulant children with bilateral spastic cerebral palsy.

BACKGROUND: Selective motor control (SMC) is a fundamental component of typical human motion. As a result of brain damage, impaired SMC often leads to difficulties with coordination, balance, gait efficiency and symmetry. RESEARCH QUESTION: What is the association between impaired SMC and lower limb motor ability, functional balance and gait performance in children with bilateral spastic cerebral palsy (CP)? METHODS: Thirty-six children (aged 5-16 years) with spastic bilateral CP in Gross Motor Function Classification System (GMFCS) level I to II were included in this study. SMC was assessed using Selective Control Assessment of the Lower Extremity (SCALE). Gross motor function was assessed using Gross Motor Function Measure-88 items D and E dimension (GMFM-88 D&E). Functional balance was assessed using Pediatric Balance Scale (PBS) and Timed Up and Go Test (TUG). Gait quality was assessed using Edinburg Visual Gait Score (EVGS) and 10-Meter Walk Test (10MWT). Spearman's rank correlation analyses were used to determine the association between SMC and other factors. RESULTS: Correlation analyses showed that SCALE was strongly positively correlated with GMFM-88 (D&E) (rs=0.756, p < 0.001), PBS (rs=0.769, p < 0.001), and height-normalized fast walking speed (rs=0.632, p < 0.001), and strongly negatively correlated with TUG (rs=-0.766, p < 0.001) and EVGS (rs=-0.893, p < 0.001). SIGNIFICANCE: Lower extremity SMC deficits are associated with poor gross motor function and balance control, more severe overall gait deviations and decreased fast walking speed in children with bilateral spastic CP. Physical therapy should include interventions that promote selective motor control in order to improve overall functional ability.

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.

ABSTRACT: To evaluate the performance of polymerase chain reaction (PCR)-free whole genome sequencing (WGS) for clinical diagnosis, and thereby revealing how experimental parameters affect variant detection.Five NA12878 samples were sequenced using MGISEQ-2000. NA12878 samples underwent WGS with differing deoxyribonucleic acid (DNA) input and library preparation protocol (PCR-based vs PCR-free protocols for library preparation). The depth of coverage and genotype quality of each sample were compared. The performance of each sample was measured for sensitivity, coverage of depth and breadth of coverage of disease-related genes, and copy number variants. We also developed a systematic WGS pipeline (PCR-free) for the analysis of 11 clinical cases.In general, NA12878-2 (PCR-free WGS) showed better depth of coverage and genotype quality distribution than NA12878-1 (PCR-based WGS). With a mean depth of ∼40×, the sensitivity of homozygous and heterozygous single nucleotide polymorphisms (SNPs) of NA12878-2 showed higher sensitivity (>99.77% and >99.82%) than NA12878-1, and positive predictive value exceeded 99.98% and 99.07%. The sensitivity and positive predictive value of homozygous and heterozygous indels for NA12878-2 (PCR-free WGS) showed great improvement than NA128878-1. The breadths of coverage for disease-related genes and copy number variants are slightly better for samples with PCR-free library preparation protocol than the sample with PCR-based library preparation protocol. DNA input also influences the performance of variant detection in samples with PCR-free WGS. All the 19 previously confirmed variants in 11 clinical cases were successfully detected by our WGS pipeline (PCR free).Different experimental parameters may affect variant detection for clinical WGS. Clinical scientists should know the range of sensitivity of variants for different methods of WGS, which would be useful when interpreting and delivering clinical reports.

[Clinical features of sleep-disordered breathing in children with neuromuscular disease].

OBJECTIVE: To study the clinical features of sleep-disordered breathing (SDB) in children with neuromuscular disease (NMD). METHODS: A retrospective analysis was performed on the medical data of 18 children who were diagnosed with NMD and underwent polysomnography (PSG) (NMD group). Eleven children without NMD who had abnormal sleeping habit and normal sleep structure on PSG were enrolled as the control group. The two groups were compared in terms of the daily and nocturnal symptoms of SDB, incidence rate of obstructive sleep apnea (OSA), pulmonary function, end-tidal partial pressure of carbon dioxide (PetCO2), features of sleep structure, and sleep respiratory events. RESULTS: In the NMD group, 16 children (89%) had related daily and nocturnal symptoms of SDB, and the youngest age was 1 year at the onset of such symptoms. Compared with the control group, the NMD group had significant reductions in total sleep time and sleep efficiency (P < 0.05), a significant reduction in the proportion of rapid eye movement (REM) sleep (P < 0.05), significant increases in obstructive apnea and hypopnea events (P < 0.05) and oxygen reduction events during REM sleep (P < 0.05), and a significant reduction in blood oxygen saturation during REM sleep (P < 0.05). In the NMD group, 17 children (94%) were diagnosed with OSA, and all children had normal lung function and PetCO2. CONCLUSIONS: There is a high proportion of children with SDB among the children with NMD, and SDB can be observed in the early stage of NMD, which results in the damage of sleep structure and the reduction in sleep efficiency. Respiratory events are mainly obstructive events, and oxygen reduction events are mainly observed during REM sleep.

Effectiveness of exercise interventions for children with cerebral palsy: A systematic review and meta-analysis of randomized controlled trials.

OBJECTIVE: The results of previous research into exercise interventions for children with cerebral palsy are inconsistent. The aim of this study is to assess the effectiveness of such exercise interventions. DESIGN: Systematic review and meta-analysis. METHODS: Systematic searches of the PubMed, Embase and Cochrane Library databases for randomized controlled trials involving exercise interventions for children with cerebral palsy, from inception to January 2020, were performed. Pooled weighted mean differences (WMDs) with 95% confidence intervals (95% CI) for gross motor function, gait speed, and muscle strength were calculated using random-effects models. RESULTS: A final total of 27 trials, including 834 children with cerebral palsy, were selected for quantitative analysis. Exercise interventions had no significant effect on the level of gross motor function (WMD 1.19; 95% CI -1.07 to 3.46; p = 0.302). However, exercise interventions were associated with higher levels of gait speed (WMD 0.05; 95% CI 0.00-0.10; p = 0.032) and muscle strength (WMD 0.92; 95% CI 0.19-1.64; p = 0.013). CONCLUSION: These results suggest that exercise interventions may have beneficial effects on gait speed and muscle strength, but no significant effect on gross motor function in children with cerebral palsy.