Body composition and motor function in children born large for gestational age at term.

BACKGROUND: This cross-sectional study compared body composition and motor function between children who were born large for gestational age (LGA) and those born appropriate for gestational age (AGA) and to investigate the association between gait quality and other variables. METHODS: Body composition was determined using a bioelectrical impedance analyzer. Motor functions were assessed using one-leg standing time, timed up-and-go test, five times sit-to-stand test, and three-dimensional gait analysis. We compared the results between two groups. We performed multiple regression analysis to evaluate the association between gait deviation index and variables of LGA, fat mass index, and motor functions (adjusted for age and sex). RESULTS: Children aged 6-12 years who were born LGA at term (n = 23) and those who were born AGA at term (n = 147) were enrolled. The LGA group had a higher fat mass index (2.9 vs. 2.2, p = 0.006) and lower gait deviation index (91.4 vs. 95.4, p = 0.011) than the AGA group. On multiple regression analysis, gait deviation index was associated with being LGA and fat mass index. CONCLUSIONS: In school-aged children who were born LGA, monitoring increased fat mass index and decreased gait deviation index could lessen the risk of metabolic syndrome and reduced gait function. IMPACT: Children aged 6-12 years who were born large for gestational age (LGA) at term showed a higher fat mass index and lower gait deviation index than those who were born appropriate for gestational age at term. No significant differences in balance function or muscle strength were observed between groups. On multiple regression analysis, gait deviation index was associated with being LGA at birth and fat mass index. In school-aged children who were born LGA, monitoring increased fat mass index and decreased gait deviation index could lessen the risk of metabolic syndrome and reduced gait function.

Three-Dimensional Gait Analysis as a Biomarker for GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

BACKGROUND: GTP-cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) typically presents in childhood with dystonic posture of the lower extremities, gait impairment, and a significant response to levodopa. We performed three-dimensional gait analysis (3DGA) to quantitatively assess the gait characteristics and changes associated with levodopa treatment in patients with GTPCH1-deficient DRD. METHODS: Three levodopa-treated patients with GTPCH1-deficient DRD underwent 3DGA twice, longitudinally. Changes were evaluated for cadence; gait speed; step length; gait deviation index; kinematic data of the pelvis, hip, knee, and ankle joints; and foot progression angle. RESULTS: Levodopa treatment increased the cadence and gait speed in one of three patients and increased the gait deviation index in two of three patients. The kinematic data for each joint exhibited different characteristics, with some improvement observed in each of the three patients. There was consistent marked improvement in the abnormal foot progression angle; one patient had excessive external rotation of one foot, another had excessive bilateral internal rotation, and the other had excessive internal rotation of one foot and excessive external rotation of the opposite foot, all of which improved. CONCLUSION: The 3DGA findings demonstrate that the gait pathology and recovery process in GTPCH1-deficient DRD vary from case to case. Changes in the foot progression angle and gait deviation index can enable the effects of treatment to be more easily evaluated.

Relationship between low-back pain and flexibility in children: A cross-sectional study.

Low-back pain is common among school-aged children. Decreased trunk flexibility in childhood influences low-back pain in adulthood. Previous studies examining the association between low-back pain and trunk flexibility in children are insufficient. Examining this association among elementary school children may help to better understand trunk flexibility in children with low-back pain and to modify the management of inflexibility. Therefore, this study aimed to identify the prevalence of low-back pain and its relationship with physical function among elementary school students. School-aged children aged 6-12 years were recruited in Japan between May 2018 and March 2023. Fingertip-to-floor distance, back muscle strength, pelvic tilt angle during gait, and the visual analog scale for low-back pain were measured. In addition, factors independently related to low-back pain were determined through logistic regression analysis. Low-back pain was reported in 9.6% of the 394 participants (boys, 191; girls, 203). All children with low-back pain presented with back pain when they moved; however, the pain was non-specific. Logistic regression analysis showed that the fingertip-to-floor distance was an independent risk factor for low-back pain (odds ratio, 0.921; p = 0.007). The odds ratios calculated in the logistic regression analysis confirmed that low-back pain frequency increased as the fingertip-to-floor distance decreased. The risk of low-back pain was associated with inflexibility, regardless of sex and muscle strength. These findings suggest that children with low-back pain must increase their trunk and lower extremity flexibility.

Decreased walking efficiency in elementary school children with developmental coordination disorder trait.

OBJECTIVE: To compare walking efficiency, and associated physical function, between children, with and without developmental coordination disorder trait. DESIGN: Cross-sectional study. SETTING: The study was conducted in a Medical and Rehabilitation Center for Developmental Disabilities in Okazaki, Japan. SUBJECTS: The study included 286 children, 6-12 years of age, with and without developmental coordination disorder trait. Developmental coordination disorder trait was defined by a score below the -1 standard deviation on the Japanese version of the Developmental Coordination Disorder Questionnaire. Based on this criterion, 45 children (28 boys) were classified into the developmental coordination disorder trait group and the other 241 (115 boys) in the control group. MEASURES: The following physical function outcomes were measured: single leg stance test; step length variability; and walking efficiency, measured using the 2-min walk test. Logistic regression analysis was used to determine the association between developmental coordination disorder trait and lower walking efficiency and physical function. RESULTS: Compared to the control group, the developmental coordination disorder group showed lower walking efficiency (P = 0.026), higher step length variability (P = 0.047), and shorter single leg stance test (P = 0.001). Developmental coordination disorder was independently associated with walking efficiency (odds ratio, 1.03; 95% confidence interval [CI], 1.001-1.061; P = 0.041) and single leg stance test (odds ratio, 0.99; 95% CI, 0.978-0.996; P = 0.006), but not to step length variability, age, and sex. CONCLUSIONS: Lower walking efficiency increases energy expenditure in children with developmental coordination disorder trait. Interventions to improve walking efficiency could improve the physical function and participation of these children.

Gait performance and dual-task costs in school-aged children with Down syndrome.

OBJECTIVE: This cross-sectional observational study aimed to assess gait performance, its correlation with physical functions, and its dual-task costs in children with Down syndrome (DS), to investigate their gait adaptations. METHODS: Gait performance with or without movie-watching tasks was evaluated in 17 children with DS (age, 6-12 years) and 51 age- and sex-matched controls, using three-dimensional gait analysis. We compared participants' demographics, physical functions, and gait performance without tasks between the two groups. In the DS group, correlations between physical functions, the intelligence quotient, and gait variables were assessed. Dual-task costs for gait variables were also compared between the two groups. RESULTS: Children with DS showed poorer balance function and muscle strength and lower gait quality than the control group. In the DS group, there was a significant positive correlation between gait speed, step length, and intelligence quotient. There were no correlations between the balance function, muscle strength, intelligence quotient, and gait quality. Dual-task costs for gait speed, step length, and cadence were greater in the DS group; however, there was no significant difference in dual-task costs for gait quality between the two groups. CONCLUSION: These findings highlight the importance of providing appropriate interventions for motor functions in school-aged children with DS based on their gait performance in single- and dual-task conditions, as well as on their intelligence quotient.

Physical Function of Japanese Preadolescents during the COVID-19 Pandemic.

Children's exercise habits have changed during the COVID-19 pandemic. This study aimed to examine the physical function and physical activity of preadolescent children before and during the COVID-19 pandemic. This cross-sectional study compared time spent in moderate-to-vigorous physical activity (MVPA), grip strength, single-leg standing time, and two-step tests of healthy children aged 10 to 12 years, enrolled from January 2018 to January 2020 (pre-COVID-19 group, n = 177) and from January 2021 to September 2022 (during-COVID-19 group, n = 69). The during-COVID-19 group had weaker grip strength (median: 14.4 vs. 15.8 kg; p = 0.012), worse performance on the two-step test (mean: 1.56 vs. 1.60; p = 0.013), and less MVPA (median: 4 vs. 7 h per week; p = 0.004). Logistic regression showed that the during-COVID-19 group was significantly related to weaker grip strength (odds ratio: 0.904, 95% CI: 0.829-0.986; p = 0.022) and worse performance in the two-step test (odds ratio: 0.976, 95% CI: 0.955-0.997; p = 0.028). The COVID-19 pandemic decreased exercise opportunities for preadolescent children, which may have had a negative impact on muscle strength and balance. It is essential to increase the amount of MVPA among preadolescent children.

Physical Functions among Children before and during the COVID-19 Pandemic: A Prospective Longitudinal Observational Study (Stage 1).

One major impact of the COVID-19 pandemic on children's lifestyles is the lack of exercise owing to activity restrictions. However, information regarding the way in which physical functions among children decline under these circumstances remains scarce. In this study, we compared the physical functions and life habits among children before and during the COVID-19 pandemic in Japan. The participants involved 40 children aged between 9-15 years (23 girls and 17 boys) who were examined medically both before and during the pandemic. The compared variables included muscle strength, static and dynamic balance functions, gait speed, body fat percentage, screen and sleep times, quality of life, and physical activity time. During the pandemic, compared to before the pandemic, children had lower levels of dynamic balance functions (p = 0.039), increased body fat percentages (p < 0.0001), longer screen time per day (p = 0.002), and shorter sleep time per day (p < 0.0001). Between the two periods, there were no significant differences in muscle strength, static balance functions, gait speed, quality of life, and physical activity time. The activity restrictions imposed as a result of the COVID-19 pandemic negatively affect dynamic balance functions, body-fat levels, and life habits among children.

Novel CLTC variants cause new brain and kidney phenotypes.

Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause neurodevelopmental delay of varying severity, and often accompanied by dysmorphic features, seizures, hypotonia, and ataxia. To date, 28 affected individuals with CLTC variants have been reported, although their phenotypes have not been fully elucidated. Here, we report three novel de novo CLTC (NM_001288653.1) variants in three individuals with previously unreported clinical symptoms: c.3662_3664del:p.(Leu1221del) in individual 1, c.2878T>C:p.(Trp960Arg) in individual 2, and c.2430+1G>T:p.(Glu769_Lys810del) in individual 3. Consistent with previous reports, individuals with missense or small in-frame variants were more severely affected. Unreported symptoms included a brain defect (cystic lesions along the lateral ventricles of the brain in individuals 1 and 3), kidney findings (high-echogenic kidneys in individual 1 and agenesis of the left kidney and right vesicoureteral reflux in individual 3), respiratory abnormality (recurrent pneumonia in individual 1), and abnormal hematological findings (anemia in individual 1 and pancytopenia in individual 3). Of note, individual 1 even exhibited prenatal abnormality (fetal growth restriction, cystic brain lesions, high-echogenic kidneys, and a heart defect), suggesting that CLTC variants should be considered when abnormal prenatal findings in multiple organs are detected.

Effectiveness of lacosamide in children and young adults previously treated with other sodium channel blockers.

PURPOSE: This multicenter study examined the effectiveness and tolerability of lacosamide (LCM) for children and young adults with epilepsy, particularly in patients who had previously been treated with other sodium channel blockers (SCBs) and the difference in effectiveness and tolerability when using other concomitant SCBs. METHODS: We retrospectively studied the clinical information of patients aged <30 years given LCM to treat epilepsy. The effectiveness and adverse events (AEs) of LCM and the other SCBs were investigated. Factors related to the effectiveness and AEs of LCM, such as the number of antiepileptic drugs (AEDs) tried before LCM and concomitantly used SCBs, were also studied. RESULTS: We enrolled 112 patients (median age = 11 years). One year after starting LCM, 29% of the patients were seizure free, and 50% had a ≥50% seizure reduction. Of the patients, 17% experienced AEs, the most common being somnolence. A ≥50% seizure reduction was observed for LCM in 30% of patients in whom other SCBs had not been effective. Lacosamide produced a ≥50% seizure reduction in 35% of the patients taking one concomitant SCB. By contrast, no patients had ≥50% seizure reduction, and 33% developed AEs, when LCM was administered concomitantly with two SCBs. CONCLUSIONS: Lacosamide was effective in 30% of children and young adults in whom other SCBs had not been effective. The effectiveness of LCM may differ from that of other SCBs, and it is worth trying in patients with epilepsy resistant to other AEDs.

Evaluation of interobserver variability in application of the new neonatal seizure classification proposed by the ILAE Task Force.

OBJECTIVE: Clinical identification of neonatal seizures (NS) remains challenging. The International League Against Epilepsy (ILAE) Task Force on Neonatal Seizures has proposed a new classification of NS, based on the 2017 ILAE seizure classification. One of the key points of this proposed NS classification is that seizure types should be determined by the "predominant" clinical feature. However, when the definition of "predominant" is uncertain, interobserver variability may arise. METHODS: We asked 49 health professionals to classify 21 NS video-electroencephalogram (EEG) recordings using the proposed 9 seizure types. RESULTS: The degree of agreement among participants was low, and agreement was weak among experts in neonatal neurology. Among experts, the rate of agreement was <50% for 2 NS. This disagreement was related to differences in the interpretation of "predominant features." Although interobserver variability was present among users of the new NS classification, the reproducibility of the NS classification was satisfactory. CONCLUSION: Education designed to foster consistent application of the standards for NS will be important for reducing interobserver variability and expanding the use of the new NS classification.

Comparison of high-dose and low-dose corticosteroid therapy for refractory Mycoplasma pneumoniae pneumonia in children.

BACKGROUND: Mycoplasma pneumoniae pneumonia (MPP) is generally a self-limiting disease, but it may become refractory. It is thought that refractory MPP is linked to the excessive immunologic responses of the host. Consequently, the use of adjunctive systemic corticosteroids may have beneficial effects. In this study, we compared the effects of high- and low-dose corticosteroid therapy in a pediatric population with refractory MPP. METHODS: We retrospectively collected data from 91 pediatric MPP patients treated with adjunctive systemic corticosteroids between April 2014 and October 2016. The patients were divided into the following two groups: high-dose corticosteroid group (2 mg/kg/day or more of prednisolone equivalents; n = 38) and low-dose corticosteroid group (<2 mg/kg/day; n = 53). Additionally, we compared the number of febrile days post-corticosteroid administration. We used 25 paired patients in a propensity score matching analysis to correct for confounding factors both by age and by days (from onset till corticosteroid therapy initiation). RESULTS: We observed that in the high-dose corticosteroid group defervescence following corticosteroid therapy initiation was achieved significantly earlier and length of hospitalization was significantly shorter (0.8 ± 1.0 vs. 1.5 ± 1.4 days and 8.2 ± 2.4 vs. 10.7 ± 2.7 days, respectively). In the propensity score matching, we observed that significant differences in the length of fever following corticosteroid therapy initiation and hospitalization were still present. Further, neither of the groups developed corticosteroid-related adverse events. CONCLUSION: Our results suggest that patients with refractory MPP treated with high-dose corticosteroid could achieve defervescence earlier and have a shorter hospitalization.