Identifying the most representative actigraphy variables reflecting standardized hand function assessments for remote monitoring in children with unilateral cerebral palsy.

BACKGROUND: Accurate assessment of physical activity and motor function in children with cerebral palsy is crucial for determining the effectiveness of interventions. This study aimed to investigate the correlation between real-world activity monitoring outcomes and in-laboratory standardized hand function assessments in children with unilateral cerebral palsy. METHODS: Actigraphy data were collected over 3 days from children aged 4-12 years with unilateral cerebral palsy before in-laboratory assessments. To tackle the high dimensionality and collinearity of actigraphy variables, we first applied hierarchical clustering using the Pearson correlation coefficient as the distance metric and then performed a principal component analysis (PCA) to reduce the dimensionality of our data. RESULTS: Both hierarchical clustering and PCAs revealed a consistent pattern in which magnitude ratio variables (ln[affected side magnitude/less-affected side magnitude]) were more strongly associated with standardized assessments of hand function than with activity time and distance domain variables. Hierarchical clustering analysis identified two distinct clusters of actigraphy variables, with the second cluster primarily consisting of magnitude ratio variables that exhibited the strongest correlation with Melbourne Assessment 2, Pediatric Motor Activity Log, Assisting Hand Assessment, and Manual Ability Classification System level. Principal component 2, primarily representing the magnitude ratio domain, was positively associated with a meaningful portion of subcategories of standardized measures, whereas principal component 1, representing the activity time and distance component, showed limited associations. CONCLUSIONS: The magnitude ratio of actigraphy can provide additional objective information that complements in-laboratory hand function assessment outcomes in future studies of children with unilateral cerebral palsy. TRIAL REGISTRATION IN CLINICALTRIALS.GOV: NCT04904796 (registered prospectively; date of registration: 23/05/2021).

An Exploration of Tri-Axial Accelerometers in Assessing the Therapeutic Efficacy of Constraint-Induced Movement Therapy in Children with Unilateral Cerebral Palsy.

This study aimed to elucidate the role of tri-axial accelerometers in assessing therapeutic interventions, specifically constraint-induced movement therapy (CIMT), in children with unilateral cerebral palsy (UCP). The primary focus was understanding the correlation between the actigraphy metrics recorded during CIMT sessions and the resultant therapeutic outcomes. Children with UCP, aged between 4 and 12 years, participated in this study from July 2021 to December 2022. In conjunction with in-clinic sessions, during which participants wore tri-axial accelerometers on both limbs, we analyzed actigraphy data over three days of routine activities pre- and post-CIMT. While not all metrics derived from the accelerometers indicated significant improvements post-intervention, there was a clear trend towards a more balanced usage of both limbs, particularly evident in Axis 3, associated with vertical movement (p = 0.017). Additionally, a discernible correlation was observed between changes in the magnitude ratio derived from actigraphy data during CIMT (Δweek3-week1) and variations in traditional assessments pre- and post-intervention (ΔT0-T1), specifically the Assisting Hand Assessment grasp and release. Using tri-axial accelerometers has helped clarify the potential impacts of CIMT on children with UCP. The preliminary results suggest a possible link between actigraphy metrics taken during CIMT and the subsequent therapeutic outcomes determined by standardized tests.

Effects of equine-assisted activities on attention and quality of life in children with cerebral palsy in a randomized trial: examining the comorbidity with attention-deficit/hyperactivity disorder.

BACKGROUND: Attention problems and decreased quality of life are frequently accompanied in Cerebral Palsy (CP), which can negatively affect rehabilitation of physical disability. However, the majority of affected children remain untreated in the aspects of attention or psychosocial factors. Equine-Assisted Activities and Therapies (EAAT) use horse as a therapeutic modality including grooming as well as mounted riding activities in which patients exercise and experience mounted stimulation. It is known to help improve attention in children with ADHD, so that it can be an exercise therapy that is expected to improvement of attention as well as rehabilitating effects in CP patients. EAA may be a promising strategy to address the unmet need for CP patients. This study aims to investigate the efficacy of EAA for children with CP, those with both CP and ADHD and confirm the comorbidity between CP and ADHD. METHODS: Forty-six children with cerebral palsy participated in this study. For the exercise group, they participated in a 40-min session twice a week for a 16-week period, while the control group engaged in daily life without any special treatments. Each children individually were assessed on attention and psychological wellbeing at baseline and post-treatment. Comorbidity were identified based on the Diagnostic and Statistical Manual of Mental Disorder 5th edition (DSM-5) and confirmed by Korean Kiddie-Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL). RESULTS: Perseveration rated using the Conner's Performance Test (CPT) showed a significant decrease only in the exercise group (p < .024). However, no significant improvement in children's quality of life was observed after EAA program compared with control group. Among the total participants, fifteen children (31.91%) were diagnosed with ADHD. When conducting an additional analysis with the subsample of CP patients diagnosed with ADHD, the d', commission error and perseveration showed a significant decrease only in the exercise group. Children with CP and ADHD reported an improvement in quality of life both in exercise and control group, but only in the exercise group social functioning exhibited a significant difference. CONCLUSION: The positive effects of the EAA on attention and quality of life were confirmed. Children with CP in the exercise group were more capable to sustain their attention longer. Those with CP and ADHD showed an increase in attention and perceived to have better social skills after receiving 16 weeks of EAA compared to those in the control group. Considering high comorbidity of CP and ADHD, it seems that the EAA program could be the better alternative treatment for CP with attentional problem. The results of this study will contribute to growing evidence for the efficacy of EAA in children especially with CP and ADHD. TRIAL REGISTRATION: This trial was registered on ClinicalTrials.gov ( NCT03870893 ). Registered 26 July 2017.

The association between motor capacity and motor performance in school-aged children with cerebral palsy: An observational study.

BACKGROUND: This study aimed to investigate the association between motor capacity and motor performance in children with cerebral palsy (CP) aged 6-12 years with Gross Motor Function Classification System (GMFCS) levels I to III. METHODS: Forty-six children with CP (24 boys and 22 girls) classified as GMFCS levels Ⅰ, Ⅱ, or Ⅲ were included. Motor capacity was measured by the Gross motor function measure (GMFM), Pediatric balance scale (PBS), Timed up and go (TUG), and 6-min walk test (6MWT). Motor performance was measured by triaxial accelerometers. Estimations of physical activity energy expenditure (PAEE) (kcal/kg/day), percentage of time spent on physical activity (% sedentary physical activity; %SPA; % light physical activity, %LPA; % moderate physical activity, %MPA; % vigorous physical activity %VPA; and moderate-to-vigorous physical activity, %MVPA), and activity counts (counts/minute) were obtained. RESULTS: Children with GMFCS level I showed a significantly higher motor capacity (GMFM-66, GMFM-88, D-dimension and E-dimension, PBS and 6MWT) than those with level II or III. Children with GMFCS level II and/or III had significantly lower physical activity (PAEE, % MPA, % VPA, %MVPA, and activity counts) than children with GMFCS level I. Multiple linear regression analysis (dependent variable, GMFM-66) showed that %MVPA was positively associated with GMFM-66 in the GMFCS level II & III children but not in GMFCS level I children. CONCLUSIONS: These findings highlight the importance of increasing %MVPA in children with CP, especially GMFCS levels II and III.

Effects of Modified Constraint-Induced Movement Therapy in Real-World Arm Use in Young Children with Unilateral Cerebral Palsy: A Single-Blind Randomized Trial.

OBJECTIVE: To determine whether modified constraint-induced movement therapy (mCIMT) with continuous restraint is feasible and effective in improving the use of the paretic arm in the real world among infants and toddlers with unilateral cerebral palsy (CP). DESIGN: Single-blind randomized controlled trial. SETTING: Tertiary hospital. PARTICIPANTS: Children aged 7 to 36 months with unilateral CP (N = 24; 16 boys, 8 girls). INTERVENTION: The experimental group received 2-hour clinic-based mCIMT sessions (5 days per week for 3 weeks), and a continuous restraint was applied. MAIN OUTCOME MEASURES: Standardized assessments were conducted. Peabody Developmental Motor Scales-2 (PDMS-2), Gross Motor Function Measure-66, Pediatric Motor Activity Log (PMAL), and Pediatric Evaluation of Disability Inventory were measured pre- and postintervention. Children who agreed to participate in the accelerometer study additionally wore accelerometers on both their wrists for 3 days before and after the intervention. RESULTS: The mCIMT group exhibited greater improvement in PMAL-how often (p = 0.048; ηp2 = 0.173), PMAL-how well (p = 0.008; ηp2 = 0.289), and PDMS-2 visual motor integration (p = 0.014; ηp2 = 0.256) posttreatment than the control group. The percentage of time in moderate-to-vigorous physical activity (z = -2.24; p = 0.03) and vector magnitude average counts (z = -2.52; p = 0.01) significantly increased in children in who wore accelerometers (N = 8) after the 3-week mCIMT protocol. CONCLUSION: mCIMT with continuous restraint applied to infants and toddlers with unilateral CP appeared to have a positive effect on paretic hand use in the real world. CLINICAL TRIAL REGISTRATION NUMBER: NCT03418519.

Sensory Processing Difficulties in Toddlers With Nonorganic Failure-to-Thrive and Feeding Problems.

OBJECTIVES: Failure-to-thrive is defined as an abnormally low weight and/or height for age. The term "nonorganic failure-to-thrive" (NOFT) has been used to describe "failure-to-thrive" without an obvious cause underlying the growth failure. The purpose of the present study was to compare sensory processing abilities between toddlers with NOFT and feeding problems and age-matched controls. METHODS: Toddlers with NOFT and feeding problems (N = 16) were recruited from the pediatric feeding clinic in a tertiary university hospital, and age-matched controls (N = 16) were recruited from community volunteers. They were evaluated for sensory processing ability using an Infant/Toddler Sensory Profile (ITSP), and for development of cognition, motor skills, and language using the Bayley Scales of Infant Development II and Sequenced Language Scale for Infants. Behavior at mealtime was evaluated using the Behavioral Pediatrics Feeding Assessment Scale. RESULTS: In the NOFT with feeding problems group, atypical performances were more frequently observed in 3 of 5 ITSP section items (tactile, vestibular, and oral) compared with those in the control group. Significant delayed development of cognition, motor skills, and language was observed in the NOFT with feeding problems group compared with that in the control group. In addition, children who showed 1 or more atypical performances in ITSP had delayed development in cognition, motor skills, and language. CONCLUSIONS: Sensory processing problems were more commonly observed in toddlers with feeding problems and growth deficiency. The present study could provide a preliminary evidence for a possible impact of the sensory processing problems on the feeding difficulties in toddlers with NOFT. Future large studies should be conducted to clarify the relation between sensory processing difficulties and feeding problems in toddlers.

Determination of steroid injection sites using lidocaine test in adhesive capsulitis: A prospective randomized clinical trial.

BACKGROUND: To validate the usefulness of subacromial bursa lidocaine for determination of the therapeutic steroid injection site in patients with adhesive capsulitis METHODS: Ninety-two patients with adhesive capsulitis were randomly divided into the LC (lidocaine test) group (n = 46), in which LC injection was performed at the subacromial bursa prior to therapeutic steroid injection, and GH (glenohumeral) group (n = 46), in which the steroid was injected into the GH. Patients in the LC group received steroid injection at the subacromial bursa or GH according to the result of the LC. Both groups underwent the same exercise protocol. Improvement of the shoulder pain was checked at 2 weeks and 3 months postinjection and expressed on an ordinal scale. Passive range of motion was recorded preinjection, and 2 weeks and 3 months postinjection. RESULTS: Two weeks postinjection, 37 patients expressed "much improved" and 7 patients expressed "slightly improved" pain levels in the LC group, whereas 18 patients each expressed "much improved" and "slightly improved" pain levels in the GH group, which was significantly different (p < 0.01). This difference was maintained 3 months postinjection (p < 0.01). Passive range of motion in all directions improved significantly 3 months postinjection in both the LC and GH groups (p < 0.01). However, there was no significant difference between the LC and GH groups. CONCLUSIONS: We found that subacromial lidocaine injection prior to steroid injection resulted in better improvement of pain than conventional GH injection for patients with adhesive capsulitis.

Filtering walking actigraphy data in children with unilateral cerebral palsy: A preliminary study.

This study aimed to determine whether filtering out walking-related actigraphy data improves the reliability and accuracy of real-world upper extremity activity assessment in children with unilateral cerebral palsy. Twenty-two children aged 4-12 years diagnosed with unilateral cerebral palsy were included in this study, which was drawn from a two-phase randomized controlled trial conducted from July 2021 to December 2022. Data were collected from a tertiary hospital in Seoul, Republic of Korea. Participants were monitored using tri-axial accelerometers on both wrists across three time points (namely, T0, T1, and T2) over 3 days; interventions were used between each time point. Concurrently, an in-laboratory study focusing on walking and bimanual tasks was conducted with four participants. Data filtration resulted in a reduction of 8.20% in total data entry. With respect to reliability assessment, the intra-class correlation coefficients indicated enhanced consistency after filtration, with increased values for both the affected and less-affected sides. Before filtration, the magnitude counts for both sides showed varying tendencies, depending on the time points; however, they presented a consistent and stable trend after filtration. The findings of this research underscore the importance of accurately interpreting actigraphy measurements in children with unilateral cerebral palsy for targeted upper limb intervention by filtering walking-induced data.

Extracorporeal shock wave therapy combined with vascular endothelial growth factor-C hydrogel for lymphangiogenesis.

BACKGROUND/AIMS: Lymphedema is a clinically incurable disease that occurs commonly after lymph node dissection and/or irradiation. Several studies have recently demonstrated that extracorporeal shock wave therapy (ESWT) could promote lymphangiogenesis associated with expression of vascular endothelial growth factor (VEGF)-C. This research concerned primarily the synergistic effect of ESWT combined with VEGF-C incorporated hydrogel (VEGF-C hydrogel) combination therapy for promoting lymphangiogenesis and ultimately alleviating lymphedema. METHODS: The VEGF-C hydrogel was applied to the injury site in a mouse model of lymphedema and then regularly underwent ESWT (0.05 mJ/mm(2), 500 shots) every 3 days for 4 weeks. RESULTS: Four weeks after the treatment, mice treated with VEGF-C hydrogel and ESWT showed signs of the greatest decrease in edema/collagenous deposits when compared with the other experimental group. LYVE-1-positive vessels also revealed that the VEGF-C/ESWT group had significantly induced the growth of new lymphatic vessels compared to the other groups. Western blot analysis showed that expression of VEGF-C (1.24-fold) and VEGF receptor-3 (1.41-fold) was significantly increased in the VEGF-C/ESWT group compared to the normal group. CONCLUSION: These results suggested that VEGF-C and ESWT had a synergistic effect and were very effective in alleviating the symptoms of lymphedema and promoting lymphangiogenesis.

Individualized Goal Setting for Pediatric Intensive Care Unit-Based Rehabilitation Using the Canadian Occupational Performance Measure.

The Canadian Occupational Performance Measure (COPM) is a client-centered outcome measure that facilitates the prioritization of individualized interventions. Given the rising emphasis on individualized intervention in pediatric intensive care units (PICUs), this cross-sectional study aimed to explore caregivers' perspectives on their children's functional goals within PICUs. From 1 September 2020 to 26 June 2022, caregivers of 41 children aged 1-18 years completed the COPM within 48 h of PICU admission. The study also explored the clinical variables predicting a high number of occupational performance goals (≥4/5). Out of 190 goals proposed by caregivers, 87 (45.8%) pertained to occupational performance, while 103 (54.2%) were related to personal factors. Among the occupational performance goals, the majority were associated with functional mobility (55; 28.9%), followed by personal care (29; 15.2%) and quiet recreation (3; 1.6%). Among personal goals, physiological factors (68; 35.8%) were most common, followed by physical factors (35; 18.4%). We found caregiver anxiety, measured by the State-Trait Anxiety Inventory-State, to be a significant predictor of the number of occupational performance goals. These findings underscore the importance of caregiver psychological assessment in the PICU to facilitate personalized goal setting and improve rehabilitation outcomes.

The Decline of Physical Activity with Age in School-Aged Children with Cerebral Palsy: A Single-Center Cross-Sectional Observational Study.

Maintaining physical activity is important for children with cerebral palsy (CP). This study examined whether age predicted habitual physical activity (HPA) or cardiorespiratory fitness (CRF) in school-aged children with CP and clarified the relationship between HPA and CRF. We utilized cross-sectional data from 39 children with CP (18 girls and 21 boys; mean age 7.44 years; mean body weight 24.76 kg; mean body mass index 15.97 kg/m2; hemiplegic or diplegic CP). The participants wore an accelerometer (ActiGraph) for five days to measure HPA, physical activity energy expenditure (kcal/kg/d), sedentary physical activity (%SPA), light physical activity, moderate-to-vigorous physical activity (%MVPA), and activity counts (counts/min). Participants underwent cardiopulmonary exercise tests on a treadmill using a modified Naughton protocol. Linear regression and correlation analyses were performed. p-value (two-tailed) < 0.05 was considered statistically significant. Age was positively associated with SPA. MVPA negatively correlated with resting heart rate (HR), and activity counts were negatively correlated with resting HR. In conclusion, our study found strong evidence of a negative association between HPA and age in school-aged children with CP. It highlights the importance of creating and improving recreational opportunities that promote physical activity in all children with CP, regardless of whether they are considered therapeutic.

Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important.

Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 (GNB1) gene. Considering this case and previous studies, genetic testing for the etiology of dyskinetic CP is recommended for children without relevant or with nonspecific brain lesions.

Early Neurodevelopmental Assessments of Neonates Discharged From the Neonatal Intensive Care Unit: A Physiatrist's Perspective.

The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.

Neurodevelopmental outcomes in preterm infants: comparison of infants with and without diffuse excessive high signal intensity on MR images at near-term-equivalent age.

PURPOSE: To compare the neurodevelopmental outcomes between preterm infants with diffuse excessive high signal intensity (DEHSI) and those without DEHSI on magnetic resonance (MR) images, in association with other white matter lesions. MATERIALS AND METHODS: This retrospective study was approved by the institutional review board, and requirement to obtain informed consent was waived. High-risk preterm infants (n = 126) who underwent screening brain MR imaging at near-term-equivalent age were classified into two groups according to the presence of DEHSI. Bayley Scales of Infant Development-II, presence of cerebral palsy, and neurosensory impairment between 18 and 24 months of age were compared between the two groups. The associations of MR findings of other white matter lesions (cystic encephalomalacia, punctate lesions, loss of volume, ventricular dilatation, and delayed myelination) and subsequent outcomes were also analyzed. Outcome data were evaluated by using exact logistic regression analyses and Fisher exact test. RESULTS: DEHSI was present in 75% (95 of 126) of infants. Subsequent neurodevelopmental outcomes did not differ significantly between the two groups. Severe motor delay and cerebral palsy were more common in infants with both DEHSI and other white matter lesions as compared with infants with normal white matter (P = .001 and P < .001, respectively). Among other white matter lesions, cystic encephalomalacia (odds ratio, 19.6; 95% confidence interval: 1.3, 333.3) and punctate lesions (odds ratio, 90.9; 95% confidence interval: 6.4, 1000) were significant predictors of cerebral palsy. CONCLUSION: Although the incidence of DEHSI was high (75%) in preterm infants at near-term-equivalent age MR imaging, DEHSI was not predictive of following adverse outcomes. Cystic encephalomalacia and punctate lesions were more significant predictors of cerebral palsy.

Validity of pediatric balance scales in children with spastic cerebral palsy.

This study was performed to examine the convergent and discriminant validity of the Pediatric Balance Scale (PBS), a modified version of the Berg Balance Scale (BBS), in children with spastic cerebral palsy (CP). A total of 38 children (age, 4 to 10 years) with spastic CP who could ambulate participated in this study. PBS, equilibrium scores of Sensory Organization Test derived from computerized dynamic posturography, Gross Motor Function Measure (GMFM), and Pediatric Evaluation of Disability Inventory (PEDI) mobility skills were evaluated. With regard to convergent validity, PBS total score was moderately correlated with equilibrium score under the condition with eyes open, fixed foot support and condition with eyes closed, fixed foot support (rs = 0.579, eye open; rs = 0.448, eye closed; p < 0.05). PBS total score was highly correlated with GMFM scores (dimensions D and E; total GMFM-88; and GMFM-66) and capability, of the PEDI mobility domain, and moderately correlated with performance of the PEDI mobility domain. Discriminant validity indicated that PBS total score can distinguish between different Gross Motor Function Classification Scale levels in children with CP. PBS can be considered a simple, valid scale for examining functional balance capacity in children with spastic CP. Furthermore, it can better predict motor capacity and capability than equilibrium score and motor performance.

The Effect of Equine Assisted Learning on Improving Stress, Health, and Coping among Quarantine Control Workers in South Korea.

Foot-and-Mouth Disease (FMD) and Avian Influenza (AI) frequently occur in South Korea, resulting in high levels of occupational stress among quarantine workers forced to partake in massive livestock killings. This study explored the usefulness of Equine Assisted Learning (EAL) in improving these workers' psychological and emotional functioning. A total of 51 FMD/AI control workers participated in 16 sessions of an EAL program facilitated by therapeutic riding professionals and trained horses. Results showed significant changes in their stress level, coping style, and overall quality of life-related to health, most notably increased vitality, enhanced emotional and social functioning, greater problem-solving, and less social avoidance after EAL participation. The usefulness of equine-assisted activities and the association between more significant stress coping ability and improved functioning in various areas of life are consistent with previous research findings. Implications for EAL application are discussed.

Effect of Equine-Assisted Activities and Therapies on Cardiorespiratory Fitness in Children with Cerebral Palsy: A Randomized Controlled Trial.

Abstract Objectives: To determine the effects of an equine-assisted activities and therapies (EAAT) program on cardiorespiratory fitness (CRF) in children with cerebral palsy (CP). Design: An evaluator-blinded, parallel, two-arm, randomized controlled clinical trial with 1:1 randomization. Settings/Location: A tertiary university hospital and a local arena. Subjects: Forty-six children with CP (24 boys and 22 girls) classified as Gross Motor Function Classification System levels I, II, or III were included. Interventions: The EAAT program was conducted for 40 min twice a week for 16 weeks (32 lessons). Outcome measures: Clinical global impression scales, motor capacity, cardiopulmonary fitness, and habitual physical activity was measured on both groups before and after the 16-week period. Results: Changes in the Clinical Global Impression-Severity scale and Clinical Global Impression-Improvement scale scores were not different between the groups after the intervention. Analysis of covariance revealed statistically significant differences in Gross Motor Function Measure 66 (GMFM 66) (p < 0.05) and Pediatric Balance Scale (p < 0.001) in motor capacity and resting heart rate (HRrest) (p < 0.001) in CRF, between the EAAT group and the control group. Subgroup analysis using multiple linear regression analysis revealed that the GMFM 66 changes had a statistically significant effect on the HRrest changes in the EAAT group (p < 0.05). Conclusions: The present study showed decreased HRrest in children with CP after completing the 16-week EAAT program. This improvement was explained by the improvement of GMFM 66 in the EAAT group. Thus, EAAT may be among the endurance training programs that could be offered to children with CP to improve their CRF. Clinical Trial Registration number: NCT03870893.

Physical Activity Energy Expenditure Predicts Quality of Life in Ambulatory School-Age Children with Cerebral Palsy.

BACKGROUND: Participation in physical activities is positively associated with better quality of life in children with cerebral palsy (CP). The objective of this study was to elucidate the relationship between the intensity of habitual physical activity (HPA) measured with an accelerometer and health-related quality of life (HRQOL) in school-age children with CP. METHOD: A secondary analysis of the cross-sectional data of 46 ambulatory children with CP was conducted. The participants wore an accelerometer for seven days to measure HPA: activity counts (counts/min) and physical activity energy expenditure (PAEE, kcal/kg/day), as well as %moderate-to-vigorous intensity physical activity (%MVPA), %light intensity physical activity (%LPA), and %sedentary physical activity (%SPA) were measured. Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and Child Health Questionnaire Parent Form 50 Questions (CHQ-PF50) were used to measure HRQOL. A Pearson analysis and a hierarchical regression analysis were performed. RESULTS: PAEE significantly predicted the results of the PedsQL(child) physical domain (ß = 0.579, p = 0.030), PedsQL(child) emotional domain (ß = 0.570, p = 0.037), PedsQL(child) social domain (ß = 0.527, p = 0.043), and PedsQL(child) total (ß = 0.626, p = 0.017). However, other HPA parameters could not predict any other HRQOL. CONCLUSIONS: PAEE could be used as a biomarker in studies on HRQOL and HPA in ambulatory school-age children with CP.

Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders. This study aimed to determine the pathogenetic mechanism of the MBOAT7 missense variant via molecular modeling. Three patients from a consanguineous family were found to have a homozygous c.757G>A (p.Glu253Lys) variant of MBOAT7. The patients showed prominent dysfunction in gait, swallowing, vocalization, and fine motor function and had intellectual disabilities. Brain magnetic resonance imaging showed signal changes in the bilateral globus pallidi and cerebellar dentate nucleus, which differed with age. In the molecular model of human MBOAT7, Glu253 in the wild-type protein is located close to the backbone carbonyl oxygens in the loop near the helix, suggesting that the ionic interaction could contribute to the conformational stability of the funnel. Molecular modeling showed that Lys253 in the mutant protein was expected to alter the surface charge distribution, thereby potentially affecting substrate specificity. Changes in conformational stability and substrate specificity through varied ionic interactions are the suggested pathophysiological mechanisms of the MBOAT7 variant found in patients with intellectual disabilities.

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

The exon-3 deletion polymorphism (d3, Database of Genomic Variants ID: Variation_64191) in the growth hormone receptor (GHR) gene is associated with increased growth response to growth hormone (GH) therapy in GH-deficient patients. However, an association of the GHR genotype with height has not yet been reported in Prader-Willi syndrome (PWS). The aim of this study was to assess the association of GHR alleles with height before starting GH therapy in patients with PWS. Seventy-four patients with PWS were genotyped and their medical records were retrospectively reviewed (45 males and 29 females, median age 8.7 years). One hundred normal controls, with known final height, were also genotyped. The GH-exon 3 locus was genotyped using a PCR multiplex assay. The distribution of alleles in the patients with PWS was not different from controls [(fl/fl n = 53 (72%), fl/d3 n = 21 (28%)) in PWS vs. (fl/fl n = 72(72%), fl/d3 n = 26(26%), and d3/d3 n = 2(2%)]. However, patients with PWS carrying a d3 allele had significantly greater height standard deviation scores (SDS) (P = 0.025) and higher insulin-like growth factor I (IGF-I) level (P = 0.041), although the age at the start of GH therapy, weight, BMI, and body fat were not different. The d3 allele was associated with height and IGF-I levels before GH therapy and suggests that even before GH therapy, d3 allele may influence height through GH secretion.