Pediatric neurology最新文献

Background: This study aims to investigate the effect of a newly developed virtual reality task-oriented training (VR-TOT) video game on upper extremity fine motor function compared with conventional occupational therapy through leap motion in children with spastic hemiplegic cerebral palsy (CP).

Methods: In this double-blind randomized clinical trial, 30 children with spastic hemiplegic CP aged six to 10 years were included and randomly allocated into two groups. During six weeks, 15 patients in the intervention group received VR_TOT-based video game in addition to conventional occupational therapy, whereas 15 patients in the control group received only conventional occupational therapy. The outcomes of spoon and knife use time, as well as wrist extension range of motion (ROM), and handgrip strength were evaluated pre- and postintervention, and also at six-week follow-up.

Results: The reduction in spoon (6.27 ± 3.08 vs 2.55 ± 2.08; P < 0.001) and knife (7.44 ± 1.95 vs 2.74 ± 2.46; P < 0.001) usage time was significantly greater among children in the intervention group compared with the control group. The increase in grip strength was significantly higher among intervention group children (1.57 ± 1.28 vs 0.50 ± 0.77; P = 0.011). However, the wrist extension ROM was not different between intervention and control groups.

Conclusions: The results show that combining the VR-TOT with traditional occupational therapy methods improves fine motor function and grip strength in children with CP.

To date, sparse attention has been paid to the importance of the "lived experience" of participants and their caregivers in pediatric gene therapy (GT) trials for rare genetic neurological disorders. Pediatric GT studies differ meaningfully from adult GT studies as the decision to participate involves a dyad: the child participant and their caregiver(s). As a multistakeholder group of authors, we are a diverse group with expert perspectives on the social, emotional, physical, and logistical burdens/benefits of trial participation and the myriad ways they affect pediatric GT research. For both pragmatic and ethical reasons, it is essential to prioritize addressing child participant and adult caregiver needs and concerns when designing and conducting GT clinical trials in pediatric populations with rare genetic neurological disorders. We use the term "lived experience" in reference to how people think about and make decisions regarding participation in research studies and how they articulate the emotional, social, ethical, and equity tradeoffs that impact their lives and illness experience. In this article, we describe why accounting for child participants' and adult caregivers' lived experience and addressing pertinent equity issues are essential when designing and conducting pediatric GT trials for rare genetic neurological diseases.

Background: Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.

Methods: Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes. These variables were examined according to gender, age group, genetic variant group, and lifetime number of antiseizure medications. Using negative binomial regression associations were expressed as incidence rate ratios and geometric mean ratios for hospitalization rates and length of stay, respectively.

Results: There were 2880 hospitalizations over 2728.4 person-years with two thirds seizure related. Infants were much more likely to be hospitalized than older individuals, with decreasing effect sizes with increasing age. Males had slightly higher rates of hospitalizations for seizure-related management and for non-seizure-related admissions. Lifetime use of six or more antiseizure medications was associated with a higher hospitalization rate for seizure management than use of three or fewer medications. The median length of stay was five days for seizure and nonseizure reasons.

Conclusion: There is an urgent need for much better seizure management in CDKL5 deficiency disorder given the hospitalization burden especially in the preschool age group and the multiplicity of antiseizure medications being used.

Background: With increasing availability of brain magnetic resonance imaging (MRI) in high-income countries, cranial ultrasound (cUS) is used less frequently to evaluate infants with hypoxic-ischemic encephalopathy (HIE). This study aimed to correlate findings of brain injury on early postnatal cUS with brain injury on neonatal brain MRI performed as part of routine clinical care for near-term and term infants with moderate to severe HIE.

Methods: This was a retrospective cohort study comparing early postnatal cUS and later neonatal brain MRI using scoring systems with prognostic validity to assess brain injury in near-term/term infants with moderate or severe HIE. Infants were born between 2010 and 2021 and were treated at a single tertiary neonatal intensive care unit.

Results: A total of 94 infants were included in this study. cUS was performed in the first five days after birth and brain MRI at a median of 6.7 days (interquartile range 5.4, 7.9). Findings of white matter injury on cUS <24 hours and gray matter injury on cUS >48 hours correlated with similar nature and severity of brain injury on brain MRI. Subgroup analyses of cUS performed <24 and >48 hours and contemporaneous brain MRI performed on days 3 to 5 provided stronger evidence for correlations of brain injury between neuroimaging modalities.

Conclusion: This study provides evidence for the correlation of findings of brain injury between cUS and brain MRI. Early postnatal cUS can provide information on potential findings on brain MRI and may help inform outcome of newborns in low-middle income countries and situations where MRI is not clinically possible.

Background: Neonatal seizures are common with acute brain injury. Up to 25% of survivors develop postneonatal epilepsy. We hypothesized postneonatal epilepsy diagnosed by age 24 months would increase risk for early markers of neurobehavioral disorders than acute provoked neonatal seizures alone.

Methods: Neonates with acute provoked seizures born from July 2015 to March 2018 were enrolled at nine Neonatal Seizure Registry sites. Composite scores from parent-completed standardized ratings assessed Adaptive, Social, Externalizing, Internalizing, Self-Regulation, and Sensory Seeking domains. Linear regression demonstrated relationships between composite scores for children who developed postneonatal epilepsy compared with those who did not. Results were adjusted for seizure etiology, sex, gestational age, and cerebral palsy (CP) severity.

Results: A total of 151 children (n = 20, 13% with postneonatal epilepsy), 4.1 years median age, participated. Children with epilepsy had impaired adaptive (Cohen d = 1.62, P < 0.0001), social (Cohen d = 0.86, P = 0.004), and executive functioning (Cohen d = 0.56, P = 0.06) compared with children without epilepsy. Mean scores for children without epilepsy were within average range. Risk for impairment among children with epilepsy persisted after adjusting for neonatal seizure etiology, sex, and gestational age, but not when adjusting for CP severity.

Conclusions: There was higher incidence of adverse neurobehavioral outcomes among preschool children diagnosed with postneonatal epilepsy compared with those without epilepsy. CP severity was associated with greater impairment; results also suggest that epilepsy is an independent predictor of adaptive functioning. Children with postneonatal epilepsy should be screened for neurobehavioral problems to facilitate early identification and developmental support.

Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.

Methods: We collected data from pediatric patients followed in Peking University People's Hospital from July 2018 to April 2024.

Results: Thirteen children harboring PTEN variants were identified (mean age, 4.1 years). All the children (100%) with PTEN variants exhibited macrocephaly, 92.3% (12 of 13) had developmental delays, and 38.5% (five of 13) were diagnosed with autism spectrum disorder. Among the 13 children, 15.4% (two of 13) had epilepsy, and both responded well to antiseizure medications. Furthermore, we reviewed published articles on PTEN variants and epilepsy. We found seven studies of 665 pediatric patients with PTEN variants, including 26 patients with epilepsy. Among the 26 epileptic patients, information about the number and response to antiseizure medications was available for only 14 patients, and 15 patients had information about seizure types. Focal seizures were the most common seizure type (10 of 15, 66.7%). Only 28.6% (four of 14) of patients were diagnosed with drug-resistant epilepsy, and all patients (four of four) had abnormal brain magnetic resonance imaging findings.

Conclusions: In summary, a high proportion of pediatric patients with PTEN variants have developmental delay. Among epileptic patients, the most common seizure type is focal seizures, and these patients are more likely to respond to antiseizure medications if their brain imaging results are normal. Further large-scale studies are necessary to characterize the clinical characteristics of pediatric patients with epilepsy harboring PTEN variants and establish standard treatments.

Background: There are no apparent distinctions in clinical presentation or conventional imaging findings between brainstem gliomas and embryonal tumors occurring in the brainstem. Our aim was to study the role of diffusion tensor imaging in differentiating embryonal tumors from gliomas of the brainstem.

Methods: Three cases of embryonal tumors occurring in the brainstem and 19 cases of brainstem gliomas were analyzed retrospectively.

Result: The most common brainstem gliomas are diffuse intrinsic pontine gliomas. On the fiber tracking images, brainstem gliomas were associated with relatively intact projection fibers that continuously traversed the tumor and followed the trajectory of normal neural fibers, whereas embryonal tumors were associated with disruption of projection fibers. The close cellularity created tissues with significant directional properties in embryonal tumors, restricting the diffusion of water molecules. As a result, there were areas of high anisotropy within the embryonal tumors. Additionally, we observed that the apparent diffusion coefficient value of embryonal tumors occurring in the brainstem was lower than that of brainstem gliomas and the difference was statistically significant (P < 0.05).

Conclusion: Disruption of projection fibers within the tumor on diffusion tensor imaging may help differentiate embryonal pathology from glial.

Background: During infant aortic arch reconstruction, traditional electroencephalography (EEG) provides only qualitative data limiting neuromonitoring efficacy. Interhemispheric differences in the alpha:delta ratio (ADR) and suppression ratio (SR) measured using quantitative EEG generate numerical trends that may suggest cerebral ischemia. We hypothesized that the ADR and SR during cardiopulmonary bypass (CPB) would correlate with hemodynamics, and that ADR and SR interhemispheric differences would precede neurological injury from infants requiring aortic arch reconstruction.

Methods: During aortic arch reconstruction, bilateral hemispheric ADRs and SRs were recorded every five minutes in conjunction with mean arterial pressure, temperature, CPB flow, and cerebral oximetry. Data were grouped into the cooling, antegrade cerebral perfusion (ACP), and rewarming periods of CPB. Correlation analysis determined relationships between the ADR, SR, and hemodynamic data. The cumulative interhemispheric ADR and SR differences were calculated during CPB. Neurological injury was defined as clinical/subclinical seizure or stroke.

Results: Among 79 infants, the ADRs decreased significantly during rewarming, whereas SRs were significantly greatest during ACP. There was a direct correlation between the ADR and cerebral oximetry (R² = 0.734; P < 0.001) and an inverse correlation between the SR and temperature (R² = 0.882; P < 0.001). Eight infants developed neurological injury that was more often preceded by an interhemispheric ADR difference >0.1 (50% vs 7.8%; P = 0.01) or SR difference >18% (41.7% vs 4.8%; P = 0.008).

Conclusions: The ADR and SR correlate with cerebral oximetry and temperature, respectively, and significant interhemispheric differences often preceded neurological injury, suggesting the importance of quantitative EEG monitoring during infant aortic arch reconstruction.