Neuropediatrics最新文献

Objective: The study aimed to interpret and establish patterns of amplitude-integrated electroencephalogram (aEEG) in stable preterm neonates and compare the aEEG among different gestational age groups using three standard classifications.

Methods: This prospective cohort study included stable preterm neonates between 24^0/7 and 36^6/7 weeks of gestation. aEEG was recorded in the first and second week of life and interpreted using the L. Hellström-Westas, Burdjalov, and Magalhães classification for background pattern, continuity, upper and lower margin amplitude, sleep-wake cycle, bandwidth, and presence of seizures. Subgroup analysis was performed based on ≤30 and >30 weeks' gestation.

Results: A total of 76 aEEG recordings were analyzed from 45 preterm neonates. In the first week, 60% of the neonates had normal voltage patterns, which increased to 80% in the second week. All infants ≤30 weeks displayed discontinuous wave patterns during the first week, and half transitioned to continuous waves in the second week. The lower margin amplitude increased, and the upper margin amplitude decreased with increased gestational age. Additionally, 65% of neonates had a mature sleep-wake cycle in the second week compared with 22% in the first week. The median (interquartile range) CFM score in the second week was 12 (4.5) compared with 8 (4) in the first week, and the CFM score positively correlated with gestation (Spearman correlation coefficient, 0.8; 95% confidence interval, 0.7-0.86). Magalhães grading in both groups was predominantly normal.

Conclusion: aEEG is predominantly a continuous normal voltage pattern in >30 weeks' gestation and discontinuous in ≤30 weeks' gestation. CFM score correlates positively with advancing gestation gestational age.

Adult reports of unexpected severe disease worsening, often termed "rebound," shortly after discontinuing fingolimod in a subset of patients with multiple sclerosis (MS), have grown over the last decade. This phenomenon, however, remains poorly described in pediatric MS patients. We present findings of a 15-year-old who experienced a debilitating relapse 4 weeks after stopping fingolimod to switch to ocrelizumab. Imaging revealed multiple large new lesions far exceeding any previously observed activity level in the patient. Despite prompt high-dose corticosteroids, plasma exchange, and prolonged rehabilitation therapy, significant residual deficits involving cognition, balance, and vision remain from the attack. This case underscores that pediatric MS patients are also at risk of severe disease deterioration after fingolimod withdrawal and require close monitoring when switching therapies.

Objective: Epilepsy is common among patients with severe motor and intellectual disabilities (SMID) patients, often taking a prolonged and intractable course. Lacosamide (LCM) is widely used to treat epilepsy in both adults and children. We assess the efficacy and tolerability of LCM among pediatric and young adult epilepsy patients with SMID who suffer from intractable seizures.

Methods: This retrospective analysis reviewed the medical records of SMID patients undergoing LCM treatment for more than a year. The study included 24 patients (14 males) aged 3 to 29 years. Epilepsy was classified as focal in 17 patients, generalized in 4 patients, and combined generalized and focal in 3 patients.

Results: The retention rates were 70.8%, 65%, and 52.9% at 1, 2, and 3 years after LCM initiation, respectively. The 50% responder rate (achieving >50% seizure reduction) for LCM treatment was 50%, with two patients experiencing complete seizure control (absence of seizures for 6 months before the follow-up visit). The 50% responders included a higher proportion of patients with focal epilepsy (58.8%) compared to those with generalized epilepsy (25.0%). Treatment-emergent adverse events (TEAEs) included somnolence in five patients and nausea in two patients. TEAEs, particularly nausea, developed within 1 month after treatment initiation in two patients, leading to LCM discontinuation.

Conclusion: LCM demonstrated good efficacy for intractable epilepsy in pediatric and young adult SMID patients. It was generally well-tolerated, resulting in a favorable retention rate. LCM emerged as a useful antiseizure medication for epilepsy treatment in pediatric and young adult SMID patients.

Angelman syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of UBE3A on the maternal allele. Clinical features include severe neurodevelopmental delay, epilepsy, sleep disturbances, and behavioral disorders. Therapy currently evolves from conventional symptomatic, supportive, and antiseizure treatments toward alteration of mRNA expression, which is subject of several ongoing clinical trials.This article will provide an overview of clinical research and therapeutic approaches on AS.

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly manifests with liver involvement. In most XLMTM cases, disease-causing variants have been identified in the myotubularin gene (MTM1) on chromosome Xq28, which encodes myotubularin protein (MTM1). The impairment of mitochondrial respiratory chain (MRC) enzyme activity in muscle has been observed in the XLMTM mouse model. Though several reports mentioned possible mechanisms of liver involvement in XLMTM patients and animal models, the precise underlying mechanisms remain unknown, and there is no report focused on mitochondrial functions in hepatocytes in XLMTM. We encountered two patients with XLMTM who had liver involvement. We measured MRC enzyme activities in two muscle biopsy specimens, and one liver specimen from our patients to investigate whether MTM1 variants cause MRC dysfunction and whether mitochondrial disturbance is associated with organ dysfunction. MRC enzyme activities decreased in skeletal muscles but were normal in the liver. In our patients, the impaired MRC enzyme activity found in muscle is consistent with previously reported mechanisms that the loss of MTM1-desmin intermediate filament and MTM1-IMMT (a mitochondrial membrane protein) interaction led to the mitochondrial dysfunction. However, our study showed that liver involvement in XLMTM may not be associated with mitochondrial dysfunction.

Background: Autism spectrum disorder (ASD) is often accompanied by comorbid conditions such as attention deficit hyperactivity disorder and epilepsy. In this context, patients are often treated with psychostimulants in an attempt to control behavioral symptoms. This study aims to understand the behavioral effects of psychostimulants in children with ASD and investigate if interictal epileptiform discharges on electroencephalogram (EEG) can act as a modifying factor in this behavior.

Methods: Sixty-eight patients with ASD who were being accompanied in the Department of Child and Adolescent Psychiatry of the Centro Hospitalar Universitário de São João and had previously done an EEG assessment answered a questionnaire regarding their behavioral response to psychostimulants.

Results: In total, 47.4% of patients reported improved agitation, 56.1% enhanced concentration, and 8.8% improved sleep. Conversely, 28.1% experienced worsened agitation, 15.8% worsened concentration, and 17.5% worsened sleep. The remaining reported no alterations. The age of diagnosis correlated significantly with improved agitation, with a higher diagnosis age being associated with a higher probability of improvement. Extended-release methylphenidate and genetic variations were significantly associated with worsening of agitation. Regarding speech, 86% exhibited no changes, while 14% showed alterations, mostly, 87.5%, characterized as negative. For other behavioral alterations, 45.6% reported negative changes, 3.5% reported positive changes, and 50.9% reported no additional alterations. Female gender was significantly associated with other negative behavioral changes. A significant correlation was found between treatment duration and the probability of improvement in agitation, concentration, and other behavioral changes.