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The study aimed to describe central nervous system (CNS) progression in patients with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact and predictors.Patients with IOPD treated with enzyme replacement therapy were longitudinally followed with brain magnetic resonance imaging (MRI) and evaluation for IQ scores from 2004 to 2021. Investigation of CNS involvement focused on white matter (WM) abnormalities and was quantified using a scoring system for metachromatic leukodystrophy. MRI scores were correlated with plasma neurofilament light chain (NfL) concentration and IQ scores.A total of 19 patients who started enzyme replacement therapy at a mean age of 26 days were analyzed; the median age at last examination was 12.1 (range = 1.7-19) years. MRI abnormalities were found in all patients, from supratentorial central WM to U-fibers, then to infratentorial WM, and eventually to gray matter. MRI scores progressed (n = 16) at variable rates (range = 0.8-2.7/y) and were positively correlated with age (n = 16) and negatively correlated with IQ scores (n = 8). Plasma NfL concentration was positively correlated with MRI scores (rOur results suggest that the progression of CNS involvement in IOPD may be associated with neuroaxonal injury and decreased IQ scores. NfL could serve as a biomarker for CNS involvement in IOPD.

To investigate the influence of adenotonsillectomy (TA) on ambulatory blood pressure (BP) variability in children with obstructive sleep apnea (OSA).Prospective, interventional study.Children with OSA symptoms were recruited from a tertiary center. After OSA diagnosis was confirmed (ie, apnea-hypopnea index [AHI] 1), these children underwent TA for treatment. We performed polysomnography and 24-hour recordings of ambulatory BP before and 3 to 6 months postoperatively. Ambulatory BP variability was presented as the standard deviation of mean blood pressure in the 24-hour monitoring of ambulatory BP. Differences in BP variability among different subgroups were tested using a multivariable linear mixed model.A total of 190 children were enrolled (mean age: 7.8 ± 3.3 years; 73% were boys; 34% were obese). The AHI significantly decreased from 12.3 ± 17.0 to 2.7 ± 5.5 events/hr after TA. Overall, daytime, and nighttime ambulatory BP did not significantly change postoperatively, and overall, daytime, and nighttime ambulatory BP variability did not differ significantly preoperatively and postoperatively. In the subgroup analysis, children aged6 years demonstrated a significantly greater decrease in ambulatory BP variability postoperatively than those aged6 years (nighttime diastolic BP variability: 9.9 to 7.7 vs. 8.9 to 9.4). Children with hypertension also showed a significantly greater decrease in ambulatory BP variability than those without hypertension.We concluded that overall ambulatory BP variability does not significantly change after TA in children with OSA. Moreover, young-aged and hypertensive children demonstrate a significant decrease in BP variability after TA.4 Laryngoscope, 132:2491-2497, 2022.

Purpose We examined the self-care experiences of adolescents with spinal muscle atrophy (SMA) and their perceptions of the interactions between their body and the environment. Methods We interviewed ten adolescents with SMA aged 13–18 years regarding personal care practices. Purposive sampling was conducted in two medical centers in northern Taiwan. Data were analyzed using the Giorgi analysis method. Results Four constitutions were identified: (1) limited space for independent development, (2) multiple reconstructions of self-image to improve physical ability, (3) self-care of disease, and (4) developing activity styles to accommodate social culture. Conclusion The self-care lived experiences of patients reflect dynamic changes in the body and environment. Self-existence was exhibited by adjustment, practice, and creativity of physical activity to integrate into society. Nursing staff should understand the self-care experiences and needs of adolescents with SMA to develop a database of self-care skills. This study recommended that nursing staff improve their ability to guide patients in taking care of themselves by developing body awareness self-care courses and individual care plans in response to various stages of disability to help patients delay deterioration, realize their physical potential, and promote independence and social development.

Purpose Early identification and treatment of spinal muscular atrophy (SMA) are crucial but difficult. In this study, we aimed to assess the significance of compound motor action potential (CMAP) amplitude in patients identified through a newborn screening program. Methods We initiated a large-scale population newborn screening program for SMA in Taiwan in 2014. Patients had access to treatment through clinical trials or expanded use programs. Symptomatic patients were evaluated regularly, including CMAP exams. Results Among 364,000 screened newborns, 21 were diagnosed with SMA. The incidence of SMA was around 1 in 17,000 live births, and 70% developed SMA type 1. All infants with two SMN2 copies became symptomatic before the age of 1 month. CMAP amplitudes of 12 newborns were available, including 6 who were subsequently treated with nusinersen. We found that a rapid decrease of CMAP amplitude was an early predictor of symptom onset. Pretreatment CMAP and rapid increment of post-treatment CMAP could predict better treatment outcomes. Conclusion This study prospectively demonstrated the incidence of SMA and its types. Our results imply the importance of pretreatment CMAP amplitude and rapid reversal of post-treatment CMAP amplitude with regard to disease presentation and also treatment outcomes.

Objective To investigate the potential of EEG multiscale entropy and complexity as biomarkers in infantile spasms. Methods We collected EEG data retrospectively from 16 newly diagnosed patients, 16 age- and gender-matched healthy controls, and 15 drug-resistant patients. The multiscale entropy (MSE) and total EEG complexity before anti-epileptic drug (AED) treatment, before adrenocorticotropic hormone (ACTH) treatment, 14 days after ACTH therapy, and after 6 months of follow-up were calculated. Results The total EEG complexity of 16 newly diagnosed infantile spasms patients was lower than the 16 healthy controls (median [IQR]: 351.5 [323.1–388.1] vs 461.6 [407.7–583.4]). The total EEG complexity before treatment was higher in the six patients with good response to AED than the 10 patients without response (median [IQR]: 410.0 [388.1–475.0] vs 344.5 [319.6–352.0]). The total EEG complexity before and after 14-days of ACTH therapy was not different between 13 ACTH therapy responders and nine non-responders. After 6-months follow-up, the total EEG complexity of ACTH therapy responders were higher than non-responders (median [IQR]: 598.5 [517.4–623.3] vs 448.6 [347.1–536.3]). Conclusions The total EEG complexity before AED and 6 months after ACTH are associated with spasm-freedom. Significance The total EEG complexity is a potential biomarker to predict and monitor the treatment effect in infantile spasms.

Background Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked muscular disease with an overall incidence of 1:5,000 live male births. Recent availability in treatment for DMD raised the need of early diagnosis, and DMD became as a selective item of newborn screening (NBS) since Feb. 2021 in our center. Materials and methods Dried blood spots (DBS) muscle-type creatine kinase (CK) isoform was measured with a commercialized kit with age-adjusted cutoffs. Subjects with an elevation of CK in the first screen were requested for a re-screen 2 weeks later. A DBS whole-exome sequencing (WES) panel for dystrophin and other neuromuscular-related genes was applied to confirm the diagnosis for subjects with persistent hyperCKemia. Results During a 1-year period, 50,572 newborns (male 26,130) received DMD screening at a mean age of 2 days (SD 1 day). Among them, 632 (1.2%) had an elevated CK value. A re-screen at a mean age of 14 days (SD 8 days) revealed 14 subjects with persistent hyperCKemia, and DMD was confirmed in 3 of them. The incidence of DMD in Taiwan was 1:8,710 (95% CI 1 in 2,963 to 1 in 25,610) live birth males. Results of DMD DBS also assisted in Pompe newborn screening. Conclusions NBS for DMD enables earlier management of the disease. The high re-screening rate could potentially be waived by moving the DBS WES assay to a second-tier test. The long-term benefit and the impact of newborn screening on the prognosis of DMD, however, remain further elucidated.

To examine the association between daily screen time exposure and both sleep patterns (sleep onset, sleep offset, and nighttime, and daily sleep durations) and sleep disturbances among a clinical sample of children with epilepsy.A cross-sectional actigraphic sleep study.A convenience sample of 141 children with epilepsy (1.5-6 years of age) was recruited from an outpatient pediatric neurology clinic of a university-affiliated children's hospital in northern Taiwan. Participating families completed questionnaires and reported children's screen time use, with children wearing an actigraphy monitor for 7 days to assess sleep patterns. Multivariable linear regression analyses were conducted to examine the association of screen time exposure with the child's sleep patterns and sleep disturbance scores.Mean minutes per day of screen time exposure was 89.79 ± 83.94 min, with 62 parents (44.0%) reporting their child having1 hr of screen time daily. Mean daily sleep duration was 9.26 ± 1.01 hr, with 106 children (93.0%) sleeping10 hr in a 24-hr period. In multivariate regression models, daily screen time exposure of1 hour was associated with 23.4-min later sleep onset (b = 0.39, p = .02), 20.4-min later sleep offset (b = 0.34, p = .04), and more severe sleep disturbances (b = 2.42, p = .04).In toddlers and preschool-age children with epilepsy, daily screen time exposure is greater and sleep duration is shorter than the recommended amount, with increased screen time exposure associated with disturbed sleep.Parents need to be informed about the possible adverse impact of screen time exposure on children's sleep and health as well as the importance of limiting screen time exposure to1 hr per day for their toddlers and preschool-age children with epilepsy.

The objective of this study is to assess the prevalence and risk factors for attention-deficit hyperactivity disorder (ADHD) in a large cohort of patients with congenital heart disease (CHD). Patients (n = 695) with CHD who were aged 6–15 years and visited the outpatient clinics in our hospital from June 2015 to May 2017 were enrolled. Their medical records were collected, and the Chinese version of the Swanson, Nolan, and Pelham rating scale (SNAP-IVc) and a questionnaire about neuropsychiatric care-seeking behavior were completed by parents and counselors. Of the 695 patients, the overall prevalence of ADHD was 12.4%, including 3.2% for the combined subtype, 6.8% for the inattentive-predominant subtype, and 2.4% for the hyperactivity/impulsive-predominant subtype. Only the inattention-predominant subtype was significantly more prevalent than in the general population. The prevalence of the inattention-predominant subtype was highest in the patients with cyanotic CHD, high severity index, and in those who had received surgery or cardiopulmonary bypass. Multivariate regression analysis indicated that the risk factors for inattention-related symptoms included postoperative seizure and previous cardiopulmonary bypass (odds ratio: 3.22 and 3.82; P = 0.027 and

Age and gender disparities in polysomnographic findings in children are not well understood.This study determined age and gender-related characteristics in pediatric obstructive sleep apnea (OSA).Retrospectively, data were collected. We analyzed polysomnographic data in the following age groups: 3-6 years (n = 681), 6-9 years (n = 553), 9-12 years (n = 297), 12-15 years (n = 200), and 15-18 years (n = 111).A total of 1842 children were included (mean age: 8.0 years; boys: 67%; obesity: 21%). The apnea-hypopnea index (AHI) gradually increased with age (3-6, 6-9, 9-12, 12-15, and 15-18 years groups: 6.2, 5.9, 6.5, 8.1, and 9.9 event/h, respectively; p trend = 0.002). In all age groups, boys had a higher AHI than girls (7.8 vs. 4.1 events/h, p 0.001). Children with obesity had a higher AHI than those without (12.9 vs. 4.9 events/h, p 0.001). The mean AHI in the boys increased with age (3-6 to 15-18 years groups: 7.0-13.6 events/h, respectively; p trend 0.001), whereas the mean AHI in the girls was not significantly different between ages (p trend = 0.492). In moderation analyses, gender was a moderator in the association between obesity and AHI, and the association between age and AHI during 12-15 and 15-18 years of ages.Male gender and obesity increase risk of OSA. Regarding age disparities, this study discovered a higher AHI in male adolescents than in young boys.

Limbic encephalitis (LE) is a rare cause of encephalitis presenting as an acute and subacute onset of neuropsychiatric manifestations, particularly with memory deficits and confusion as core features, along with seizure occurrence, movement disorders, or autonomic dysfunctions. LE is caused by neuronal antibodies targeting the cellular surface, synaptic, and intracellular antigens, which alter the synaptic transmission, especially in the limbic area. Immunologic mechanisms involve antibodies, complements, or T-cell-mediated immune responses in different degree according to different autoantibodies. Sensitive cerebrospinal fluid markers of LE are unavailable, and radiographic findings may not reveal a typical mesiotemporal involvement at neurologic presentations; therefore, a high clinical index of suspicions is pivotal, and a neuronal antibody testing is necessary to make early diagnosis. Some patients have concomitant tumors, causing paraneoplastic LE; therefore, tumor survey and treatment are required in addition to immunotherapy. In this study, a review on the molecular and immunologic aspects of LE was conducted to gain awareness of its peculiarity, which we found quite different from our knowledge on traditional psychiatric illness.

To investigate the relative contributions of obesity and obstructive sleep apnea (OSA) to unfavorable blood pressure in children.Children aged 3-18 years with OSA-related symptoms were recruited. All children underwent office blood pressure (BP) monitoring and full-night polysomnography. Obesity was defined as a body mass index ≥95th percentile. OSA severity was divided into primary snoring (apnea-hypopnea index [AHI] 1), mild OSA (5 AHI ≥1), and moderate to severe OSA (AHI ≥5). Age- and sex-adjusted logistic regression analysis was performed to determine the associations among OSA, obesity, and elevated BP.This cross-sectional study enrolled 1689 children (66% boys), with a mean age of 7.9 years. Compared with children with primary snoring, children with moderate to severe OSA had significantly higher systolic BP (108.1 mmHg vs 105.6 mmHg), diastolic BP (75.0 mmHg vs 70.4 mmHg), systolic BP percentile (75.0 vs 70.4), and diastolic BP percentile (74.0 vs 69.2). The rate of unfavorable BP (ie, elevated BP or hypertension level BP) also was significantly higher in children with more severe OSA. Children with obesity had higher BP and BP percentile. Logistic regression analysis revealed that children with obesity and moderate to severe OSA have a 3-fold greater risk of unfavorable BP compared with children without obesity and primary snoring.We identified a 3-fold greater risk of unfavorable BP in children with obesity and moderate to severe OSA.

To assess the craniofacial morphology in children with sleep-disordered breathing (SDB) using nonradiation and readily accessible photogrammetry technique.Included children aged 3-18 years with SDB-related symptoms from April 2019 to February 2020 in a tertiary center. All participants underwent craniofacial photogrammetry and overnight polysomnography (PSG). Participants were stratified into 2 groups (obstructive sleep apnea [OSA] group: apnea-hypopnea index [AHI] ≥ 1 and non-OSA group: AHI1). Craniofacial photogrammetry was performed to derive variables of craniofacial features in standardized frontal and profile views. The 2 groups were propensity score matched based on age, sex, and body mass index (BMI) percentiles. Associations between craniofacial feature variables and OSA (AHI ≥1) likelihood were examined using logistic regression test. intraclass correlation coefficient (ICC) was used to evaluate the intrarater and interrater reliability.In total, 58 children were enrolled for the analysis after matching. All 3 variables representing the mandibular plane angle in the profile view were increased in the OSA group (mego-tn: 34.85 ± 5.99 vs 31.65 ± 5.96°, odds ratio [OR]: 1.10, 95% CI:1.02 to 1.18, P = .01; tn-gogn: 28.65 ± 6.38 vs 25.91 ± 5.38°, OR: 1.08, 95% CI:1.02 to 1.15, P = .012; and gome-tsup: 26.71 ± 6.13 vs 22.20 ± 5.89°, OR: 1.13, 95% CI:1.04 to 1.23, P = .003).Craniofacial photogrammetry revealed increased mandibular inclination in children with OSA. A steep mandibular plane with craniofacial photogrammetry is considered a potential predictor of pediatric OSA. Further investigation with a large sample size is required to clarify the validity of photogrammetry in evaluating pediatric OSA.

Epilepsy is one of the most common chronic neurological diseases in children. Sleep disorders tend to increase the risk of seizures, and research has found that moderate physical activity may improve the quantity and quality of sleep in adults. However, the link between physical activity level and sleep patterns in toddlers and preschool-age children with epilepsy remains unclear.To explore the association between level of physical activity and sleep patterns in toddlers and preschool-age children with epilepsy.A cross-sectional, descriptive, correlational study was conducted. Ninety-eight children with epilepsy (1.5-6 years old) wore an actigraph for seven days. Additional data were collected using a health information datasheet, Children's Sleep Habits Questionnaire (CSHQ), and sleep diary, all of which were completed by the parents of each child.The results showed that the mean amount of time spent in moderate-to-vigorous physical activity per day was 36.00 ± 49.20 minutes and that only 23 children (23.5%) had a nighttime sleep efficiency greater than 85%. The overall CSHQ score (56.00 ± 5.69) indicated the presence of moderate to severe sleep disturbances. Multiple regression analysis showed the hours and percentage of moderate-to-vigorous physical activity to be positively associated with night sleep efficiency (β = .54, p.01; β = .51, p.01) and negatively associated with nighttime sleep hours (β = -.55, p.01; β = -.52, p.01), even after controlling for potential confounders.Based on the findings, the sleep patterns and physical activity of children with epilepsy should be regularly assessed. Furthermore, appropriately increasing the duration of moderate-to-vigorous physical activity may improve sleep efficiency and prevent reductions in the duration of night sleep.癲癇兒童日間活動與睡眠型態相關性之探討.癲癇症是兒童最常見的慢性神經系統疾病之一，睡眠障礙易使癲癇發作機會增加，成人研究顯示適度身體活動有益睡眠，但目前不清楚幼兒及學齡前癲癇兒身體活動與睡眠型態之關係。.探討幼兒期及學齡前期癲癇兒身體活動與睡眠型態之相關性。.採橫斷式描述相關性設計，共98位1.5–6歲癲癇兒連續七日佩戴活動記錄器，其父母完成癲癇兒童基本健康資料表、兒童睡眠習慣問卷（Children’s Sleep Habits Questionnaire, CSHQ）及癲癇兒童睡眠活動日誌。.癲癇兒平均每日中高度身體活動時數為36.00 ± 49.20分鐘，夜間睡眠效率85%僅23人（23.5%），CSHQ總分（56.00 ± 5.69）顯示有中至重度睡眠問題。多元迴歸分析在控制干擾因子後，中高度身體活動時數、百分比與夜間睡眠效率呈顯著正相關（β = .54, p.01; β = .51, p.01）；與夜間睡眠時數呈顯著負相關（β = -.55, p.01; β = -.52, p.01）。.依研究結果建議常規評估癲癇兒身體活動與睡眠，適度增加中高度身體活動進而提升睡眠效率及避免縮短夜間睡眠時數。.

Hereditary neuromuscular diseases (NMDs) are a group of rare disorders, and the diagnosis of these diseases is a substantial burden for referral centers. Although next-generation sequencing (NGS) has identified a large number of genes associated with hereditary NMDs, the diagnostic rates still vary across centers.Patients with a suspected hereditary NMD were referred to neuromuscular specialists at the National Taiwan University Hospital. Molecular diagnoses were performed by employing a capture panel containing 194 genes associated with NMDs.Among the 50 patients referred, 43 had a suspicion of myopathy, and seven had polyneuropathy. The overall diagnostic rate was 58%. Pathogenic variants in 19 genes were observed; the most frequent pathogenic variant found in this cohort (DYSF) was observed in only four patients, and 10 pathogenic variants were observed in one patient each. One case of motor neuron disease was clinically mistaken for myopathy. A positive family history increased the diagnostic rate (positive: 72.7% vs. negative: 56.3%). Fourteen patients with elevated plasma creatine kinase levels remained without a diagnosis.The application of NGS in this single-center study proves the great diversity of hereditary NMDs. A capture panel is essential, but high-quality clinical and laboratory evaluations of patients are also indispensable.

OBJECTIVE The objective of this study was to examine patterns of changes in emotional and behavioral problems among children with congenital heart disease (CHD) and investigate associated factors in different domains. METHOD The study sample comprised 327 pairs of children with CHD (aged 1.5-12 yrs) and their parents who participated in 2 waves of a survey in Taiwan from 2017 to 2019. The Child Behavior Checklist was used to evaluate the children's emotional and behavioral problems during both waves. The scores were later used to determine the patterns of changes in emotional and behavioral problems. Multinomial logistic regression was then applied to examine factors associated with varied patterns of changes in emotional and behavioral problems. RESULTS Five patterns of changes in emotional and behavioral problems were identified: "persistent normal," "initial problematic," "worsening," "persistent problematic," and "subclinical." Among the factors examined, parenting stress was consistently associated with different patterns of change in emotional and behavioral problems. Specifically, children with parents who had higher levels of parenting stress were more likely to belong to the "initial problematic," "persistent problematic," or "subclinical" groups than to the "persistent normal" group. Other significant factors included sex, number of surgeries, and perceived health of parents. CONCLUSION This study highlights the potential role of parenting stress in changes in emotional and behavioral problems. Accordingly, intervention programs aimed at relieving parenting stress may help reduce the development and worsening of emotional and behavioral problems among children with CHD.

Duchenne muscular dystrophy (DMD) results in loss of ambulation and premature death. Ultrasound provides real-time, safe, and cost-effective routine examinations. Deep learning allows the automatic generation of useful features for classification. This study utilized deep learning of ultrasound imaging for classifying patients with DMD based on their ambulatory function. A total of 85 individuals (including ambulatory and nonambulatory subjects) underwent ultrasound examinations of the gastrocnemius for deep learning of image data using LeNet, AlexNet, VGG-16, VGG-16TL, VGG-19, and VGG-19TL models (the notation TL indicates fine-tuning pretrained models). Gradient-weighted class activation mapping (Grad-CAM) was used to visualize features recognized by the models. The classification performance was evaluated using the confusion matrix and receiver operating characteristic (ROC) curve analysis. The results show that each deep learning model endows muscle ultrasound imaging with the ability to enable DMD evaluations. The Grad-CAMs indicated that boundary visibility, muscular texture clarity, and posterior shadowing are relevant sonographic features recognized by the models for evaluating ambulatory function. Of the proposed models, VGG-19 provided satisfying classification performance (the area under the ROC curve: 0.98, accuracy: 94.18%) and feature recognition in terms of physical characteristics. Deep learning of muscle ultrasound is a potential strategy for DMD characterization.

Background The febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy which developed the refractory status epilepticus following or during a nonspecific febrile illness. To analyze the short-term and long-term outcome of FIRES in the children, we retrospectively analyzed the related data. Methods The motor outcome was evaluated by modified Rankin scale (mRS). Poor motor outcome was defined as a mRS score of 4 or higher at discharge. Significant motor decline was defined as the mRS difference more than 2 before hospital admission and at discharge. Results We totally enrolled 25 patients for analysis. Four patients were expired during hospitalization, and one patient was lost to follow-up after discharge. Therefore, a total 20 patients were finally analyzed. The age of disease onset ranged from 1.6 to 17.2 years (mean: 9.6 ± 4.4 years). Newly acquired epilepsy and cognitive deficit occurred in 100% and 61%, respectively. The duration of the anesthetic agents ranged from 7 to 149 days (mean: 34.2 ± 36.1 days). The duration of anesthetic agent usage (p = 0.011), refractory epilepsy (p = 0.003), and the use of ketogenic diet (p = 0.004) were significantly associated with the poor long-term motor outcome, and the number of anesthetic agents tended to be associated with the poor long-term motor outcome (p = 0.050). In-hospital mortality was 16%. Significant functional decline at discharge occurred in 100%. However, there was improvement in long-term follow-up. Conclusion The outcome of FIRES is poor with significant mortality and morbidities. Refractory epilepsy with cognitive deficit in survived cases is common, but improvement is possible.

Duchenne muscular dystrophy (DMD) results in loss of ambulation for the patients. Ultrasound attenuation correlates with fat content in muscles, resulting in changes in signal frequency. The Hilbert-Huang transform (HHT) allows time-frequency analysis with high time-frequency resolution. This study explored the feasibility of using the instantaneous frequency (IF) obtained from the HHT to diagnose the walking function of patients with DMD. Eighty-five participants (12 control and 73 patients with DMD) underwent a standard-care ultrasound examination of the gastrocnemius to acquire raw image data for ultrasound B-mode and IF calculations, which were compared with the DMD stage using Pearson correlation and receiver operating characteristic (ROC) curve analyses. With increasing DMD stage, the median IF decreased from 7.25 to 7.01 MHz (the correlation coefficient r = -0.73; the probability value p 0.0001). The area under the ROC curve was 0.97 when using ultrasound IF to discriminate between ambulatory and nonambulatory patients (accuracy: 91.76%; sensitivity: 93.75%; and specificity: 90.57%). The study reveals that ultrasound IF has great potential in DMD evaluation and management.

IMPORTANCE: Early intervention using cone-beam computed tomography (CBCT) and adenotonsillectomy for children with obstructive sleep apnea (OSA) may prevent impaired growth, adverse cardiovascular consequences, learning deficits, and poor quality of life. OBJECTIVE: To assess changes in CBCT airway measurements and polysomnography (PSG) parameters that occur after adenotonsillectomy in children with OSA and to determine whether CBCT changes are correlated with apnea-hypopnea index (AHI) reduction. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study was conducted at a tertiary medical center from 2013 to 2016. Children aged 7 to 13 years with PSG-confirmed OSA (ie, AHI ≥1) were recruited. Data analysis was performed from March to July 2021. EXPOSURES: All participants underwent CBCT and PSG before and after adenotonsillectomy. MAIN OUTCOMES AND MEASURES: Changes in PSG and CBCT parameters after adenotonsillectomy were analyzed. RESULTS: A total of 49 children (mean [SD] age, 9.5 [1.8] years; 34 boys [69.4%]) were recruited. Eighteen participants (36.7%) had obesity. After adenotonsillectomy, AHI significantly decreased from 11.4 to 1.2 events per hour (mean difference, −10.24 events per hour; 95% CI, −13.84 to −6.64 events per hour). The following CBCT parameters significantly increased: total airway volume (from 11 265 to 15 161 mm(3); mean difference, 3896.6 mm(3); 95% CI, 2788.0 to 5005.2 mm(3)), nasopharyngeal volume (from 2366 to 3826 mm(3); mean difference, 1459.7 mm(3); 95% CI, 1122.9 to 1796.5 mm(3)), minimal nasopharyngeal airway area (from 128 to 191 mm(2); mean difference, 63.1 mm(2); 95% CI, 47.4 to 78.8 mm(2)), mean nasopharyngeal airway area (from 144 to 231 mm(2); mean difference, 86.8 mm(2); 95% CI, 67.0 to 106.5 mm(2)), oropharyngeal volume (from 8898 to 11 335 mm(3); mean difference, 2436.9 mm(3); 95% CI, 1477.0 to 3396.8 mm(3)), minimal oropharyngeal airway area (from 82 to 158 mm(2); mean difference, 76.2 mm(2); 95% CI, 57.0 to 95.4 mm(2)), and mean oropharyngeal airway area (from 182 to 234 mm(2); mean difference, 52.5 mm(2); 95% CI, 33.6 to 71.4 mm(2)). Among all parameters, only body mass index percentile showed large effect size between the group with residual OSA (postoperative AHI ≥1) and the group with resolved disease, with the residual OSA group having a higher body mass index percentile (87.8 vs 61.4; mean difference, 26.33; 95% CI, 10.00 to 42.66). A quantile regression model revealed that total airway volume and minimal oropharyngeal airway area were significantly correlated with reductions in AHI. CONCLUSIONS AND RELEVANCE: These findings suggest that in children undergoing adenotonsillectomy, improvements in total airway volume and oropharyngeal minimal airway area were correlated with reduction of AHI. Future studies are needed to assess whether CBCT has a role in the evaluation of children with OSA who are being considered for adenotonsillectomy.

C-reactive protein (CRP) is an important serum marker of inflammation associated with cardiovascular outcomes. This study aims to evaluate the association between CRP and childhood obstructive sleep apnea (OSA) and clarify the effects of adenotonsillectomy on serum CRP levels in children with OSA.Children with symptoms suggestive of OSA who underwent an overnight polysomnography were recruited from a tertiary medical center. Their serum CRP levels were measured. For children who underwent adenotonsillectomy for OSA treatment, polysomnography and serum high-sensitivity CRP (hs-CRP) level measurement were conducted after surgery.This study included 326 children (mean age: 7.2 ± 3.0 years; boys: 67%). Children with apnea-hypopnea index (AHI)5 events/h had significantly higher hs-CRP levels than children with AHI of 1-5 events/h and AHI1 event/h [median (interquartile range): 0.08 (0.03-0.25) vs 0.03 (0.02-0.14) vs 0.04 (0.01-0.10), P0.001]. Log-transformed hs-CRP levels were positively associated with log AHI values (r = 0.2, P0.001). In multiple linear regression analysis, hs-CRP levels were independently associated with AHI; 101 children with OSA (ie, AHI1) underwent adenotonsillectomy. In children with OSA in the study cohort, a significant reduction of hs-CRP levels did not occur after surgery [from 0.07 (0.02-0.22) to 0.08 (0.03-0.17), P = 0.716]. In children with OSA having abnormal hs-CRP levels (ie, CRP1 mg/dL), hs-CRP levels significantly decreased after surgery [from 1.87 (1.11-2.78) to 0.20 (0.07-1.04), P = 0.043].Children with OSA had increased hs-CRP levels. Children with OSA and abnormal hs-CRP levels exhibited significantly reduced hs-CRP levels following adenotonsillectomy.

Background Cyanotic congenital heart disease (CHD) has detrimental effects on behavioral function in children and adolescents. However, few study authors have examined the underlying mechanisms of these effects. Objective The aims of this study were to investigate the mediating effects of parenting stress in the association between cyanotic CHD and externalizing problems and to explore whether age moderated these mediating effects. Methods A total of 697 children and adolescents (aged 2-17 years) with CHD (252 with cyanotic CHD and 445 with acyanotic CHD) in Taiwan were enrolled. The Child Behavior Checklist and the Parenting Stress Index were used to assess externalizing problems and parenting stress, respectively. Mediation analysis was performed to determine the mediating effects of parenting stress in the association between cyanotic CHD and externalizing problems. A moderated mediation model was used to investigate the moderating effect of age on the observed mediating effects. Results Parenting stress significantly mediated the relationship between cyanotic CHD and externalizing problems (unstandardized coefficient B = 0.98; 95% bootstrap confidence interval, 0.23-1.78). Children's age further moderated the mediating effects, with greater effects in older children. Age also moderated the association between cyanotic CHD and parenting stress, such that the effects were only significant in children older than 5.7 years. Conclusions Our study revealed that age affected the mediating effects of parenting stress in the relationship between cyanotic CHD and externalizing problems. Efforts to reduce externalizing problems in children and adolescents with cyanotic CHD by targeting parenting stress may be more effective when age differences are considered.

OBJECTIVE To evaluate blood pressure (BP) variability in 24-hour ambulatory BP monitoring in children with obstructive sleep apnea (OSA). STUDY DESIGN Case series study. METHODS Children aged 4 to 16 years with clinical symptoms were recruited in a tertiary medical center. Overnight polysomnography and 24-hour recordings of ambulatory BP were performed for each child. The severity of OSA was classified as primary snoring (apnea-hypopnea index [AHI] AHI ≥ 5), and severe OSA (AHI ≥ 10). The standard deviation of mean BP was used as an indicator of BP variability. RESULTS A total of 550 children were included (mean age: 7.6 years; 70% were boys; 20% were obese). Compared with the children with primary snoring, children with severe OSA exhibited significantly higher nighttime systolic BP (108.0 vs. 100.5 mmHg, P

Duchenne muscular dystrophy (DMD) is a progressive muscular disease, but validated imaging tools to quantify muscle microstructure alteration as mobility declines are lacking. We aimed to determine the feasibility of using acoustic radiation force impulse shear-wave elastography (ARFI/SWE) in the quantitative assessment of lower limb muscle stiffness in DMD patients. Shear wave velocities (SWVs) of lower limbs were measured in 39 DMD patients and 36 healthy controls aged 3-20 y. Mean SWV values of the controls and of the DMD patients at different ambulatory stages were compared using analysis of variance with Bonferroni correction. The DMD group had increased lower limb muscle stiffness compared with controls. Stiffness of the tibialis anterior and medial gastrocnemius muscle decreased from ambulatory to early non-ambulatory stages, whereas stiffness of the rectus femoris muscle increased from ambulatory to late non-ambulatory stages. We describe how SWV changes in lower limb muscles have the potential to predict ambulatory decline in DMD.

Duchenne muscular dystrophy (DMD) is the most common muscular disorder, patients lose their ambulation in the later stages of the disease. Ultrasound imaging enables routine examinations and the follow-up of patients with DMD. Conventionally, the probability distribution of the received backscattered echo signals can be described using statistical models for ultrasound parametric imaging to characterize muscle tissue. Small-window entropy imaging is an efficient nonmodel-based approach to analyzing the backscattered statistical properties. This study explored the feasibility of using ultrasound small-window entropy imaging in evaluating the severity of DMD. A total of 85 participants were recruited. For each patient, ultrasound scans of the gastrocnemius were performed to acquire raw image data for B-mode and small-window entropy imaging, which were compared with clinical diagnoses of DMD by using the receiver operating characteristic curve. The results indicated that entropy imaging can visualize changes in the information uncertainty of ultrasound backscattered signals. The median with interquartile range (IQR) of the entropy value was 4.99 (IQR: 4.98&ndash, 5.00) for the control group, 5.04 (IQR: 5.01&ndash, 5.05) for stage 1 patients, 5.07 (IQR: 5.06&ndash, 5.07) for stage 2 patients, and 5.07 (IQR: 5.06&ndash, 5.07) for stage 3 patients. The diagnostic accuracies were 89.41%, 87.06%, and 72.94% for &ge, stage 1, &ge, stage 2, and &ge, stage 3, respectively. Comparisons with previous studies revealed that the small-window entropy imaging technique exhibits higher diagnostic performance than conventional methods. Its further development is recommended for potential use in clinical evaluations and the follow-up of patients with DMD.

OBJECTIVE Cone-beam computed tomography (CBCT) offers three-dimensional structures in assessing upper airway of patients. This study aims to compare the cone-beam computerized tomography scan measurements between children with obstructive sleep apnea (OSA) and primary snoring. STUDY DESIGN Case-control study. METHODS This prospective study was conducted in a tertiary referral center. Thirty-six children with moderate-to-severe OSA (with apnea-hypopnea index [AHI] > 5 events/hour) and 36 age-, gender-, and obesity-matched children with primary snoring (AHI

About 10–30% of pediatric patients with epilepsy have drug-resistant epilepsy. Genetic panels may be useful in identifying etiology and guiding treatment in pediatric patients with drug-resistant epilepsy. In our tertiary center, we used two epilepsy panels, an initial 24-genes panel followed by a more comprehensive 122-genes panel to screen for genetic cause over recent 2 years. A total of 96 patients with drug-resistant epilepsy were evaluated using the 24-genes panel, which revealed 10 (10.4%) of the patients with pathogenic variants. Another 22 patients without causative genetic variants using first-gene panel were evaluated using the 122-genes panel. Out of the 22 patients, 4 had pathogenic variants, and 6 had variants of unknown significance. The total yield rate for the second panel was 18.2% (4/22). In conclusion, although whole exome sequencing has entered clinical practice, epilepsy gene panels may still play some roles because of lower cost and faster time, especially in those with fever-associated epilepsy.

Both refractory convulsive status epilepticus (SE) and super-refractory SE are medical emergencies. However, there are limited data on super-refractory SE in children. Thus, this study focuses on characterizing the demographics, outcomes, and prognostic factors for super-refractory SE in children.This study was a retrospective analysis of super-refractory SE treated in a tertiary referral center in Taiwan. The functional outcome was evaluated by modified Rankin scale (mRS). Significant functional decline was defined as an mRS difference (before hospital admission and at discharge) of more than 2. The variates and the follow-up mRS values were then analyzed statistically.We enrolled 134 patients with 191 episodes of convulsive SE and identified 30 patients with 38 episodes of convulsive super-refractory SE. The incidence of convulsive super-refractory SE in the group with SE was 19.9%, and the age ranged from 2.5 months to 17 years. In-hospital mortality was 13.3%, which was much lower than that of adult cohorts. Newly acquired epilepsy and cognitive deficit occurred in 100% and 88.5%, respectively. Newly acquired epilepsy, as a sequel of super-refractory SE, was observed in all 18 patients (100%) who survived and had no history of epilepsy. Significant functional decline (mRS difference of more than 2) at discharge occurred in 76.7%. Poor functional outcome was associated with acute symptomatic etiology (P 0.001) and the number of anesthetic agents (P = 0.002). The functional outcome improved after 1 year of follow-up in our population.Super-refractory SE is associated with significant morbidity and mortality in children. However, the in-hospital mortality rate is much lower compared with adults. The functional outcome in children is associated with acute symptomatic etiology and the number of anesthetic agents and may improve after long-term follow-up.

International audience; Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease without cure. One of the possible therapeutic approaches for DM1 is correction of the RNA-binding proteins CUGBP1 and MBNL1, misregulated in DM1. CUGBP1 activity is controlled by glycogen synthase kinase 3␤ (GSK3␤), which is elevated in skeletal muscle of patients with DM1, and inhibitors of GSK3 were suggested as therapeutic molecules to correct CUGBP1 activity in DM1. Here, we describe that correction of GSK3␤ with a small-molecule inhibitor of GSK3, tideglusib (TG), not only normalizes the GSK3␤-CUGBP1 pathway but also reduces the mutant DMPK mRNA in myoblasts from patients with adult DM1 and congenital DM1 (CDM1). Correction of GSK3␤ in a mouse model of DM1 (HSA LR mice) with TG also reduces the levels of CUG-containing RNA, normalizing a number of CUGBP1-and MBNL1regulated mRNA targets. We also found that the GSK3␤-CUGBP1 pathway is abnormal in skeletal muscle and brain of DMSXL mice, expressing more than 1,000 CUG repeats, and that the correction of this pathway with TG increases postnatal survival and improves growth and neuromotor activity of DMSXL mice. These findings show that the inhibitors of GSK3, such as TG, may correct pathology in DM1 and CDM1 via several pathways.