Evaluation of Functional Electrical Stimulation to Assist Cycling in Four Adolescents with Spastic Cerebral Palsy

Introduction. Adolescents with cerebral palsy (CP) often have difficulty participating in exercise at intensities necessary to improve cardiovascular fitness. Functional electrical stimulation- (FES-) assisted cycling is proposed as a form of exercise for adolescents with CP. The aims of this paper were to adapt methods and assess the feasibility of applying FES cycling technology in adolescents with CP, determine methods of performing cycling tests in adolescents with CP, and evaluate the immediate effects of FES assistance on cycling performance. Materials/Methods. Four participants (12–14 years old; GMFCS levels III-IV) participated in a case-based pilot study of FES-assisted cycling in which bilateral quadriceps muscles were activated using surface electrodes. Cycling cadence, power output, and heart rate were collected. Results. FES-assisted cycling was well tolerated (n = 4) and cases are presented demonstrating increased cadence (2–43 rpm), power output (19–70%), and heart rates (4-5%) and decreased variability (8–13%) in cycling performance when FES was applied, compared to volitional cycling without FES assistance. Some participants (n = 2) required the use of an auxiliary hub motor for assistance. Conclusions. FES-assisted cycling is feasible for individuals with CP and may lead to immediate improvements in cycling performance. Future work will examine the potential for long-term fitness gains using this intervention

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population

Aerobic Responses to FES-Assisted and Volitional Cycling in Children with Cerebral Palsy

Recumbent stationary cycling is a potential exercise modality for individuals with cerebral palsy (CP) that lack the postural control needed for upright exercises. Functional electrical stimulation (FES) of lower extremity muscles can help such individuals reach the cycling intensities that are required for aerobic benefits. The aim of this study was to examine the effect of cycling with and without FES assistance to that of a no-intervention control group on the cardiorespiratory fitness of children with CP. Thirty-nine participants were randomized to a FES group that underwent an 8-week FES-assisted cycling program, the volitional group (VOL), who cycled without FES, or a no-intervention control group (CON) (15 FES, 11 VOL, 13 CON). Cadence, peak VO2, and net rise in heart rate were assessed at baseline, end of training, and washout (8-weeks after cessation of training). Latent growth curve modeling was used for analysis. The FES group showed significantly higher cycling cadences than the VOL and CON groups at POST and WO. There were no differences in improvements in the peak VO2 and peak net HR between groups. FES-assisted cycling may help children with CP attain higher cycling cadences and to retain these gains after training cessation. Higher training intensities may be necessary to obtain improvements in peak VO2 and heart rate