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Objectives: Very low birth weight (VLBW) infants are at disproportionately high risk for neonatal seizures, yet optimal first-line antiseizure medication (ASM) strategies in this vulnerable population remain a matter of debate. Over the past decade, levetiracetam (LEV) has emerged as a promising alternative to phenobarbital (PB), driven by growing concerns over PB’s limited efficacy and potential neurotoxic effects. Methods: This retrospective cohort study analyzed medical records of VLBW infants treated for seizures at our Neonatal Intensive Care Unit from 2013 to 2023. We compared the efficacy and safety of LEV and PB as initial antiepileptic treatments. Data on gestational age, birth weight, type of seizures, electroencephalogram findings, and treatment outcomes were meticulously collected and analyzed. Results: The study included 103 VLBW infants (mean gestational age 26.17±2.31 weeks); 27 received LEV and 76 received PB. Baseline demographic and clinical characteristics were comparable between the two groups. Although the LEV group had a higher proportion of infants with severe intraventricular hemorrhage and necrotizing enterocolitis indicating a potentially more critical baseline, these differences were not statistically significant. The primary outcome revealed that significantly fewer infants in the LEV group were unresponsive to initial treatment compared to the PB group (14.8 vs. 56.6 %; p<0.001). Furthermore, lower gestational age was identified as a significant risk factor for PB unresponsiveness. Conclusions: This study supports that LEV is more successful in clinical seizure control compared to PB as the first choice in ASM selection in VLBW. If our study results are supported by randomized controlled prospective studies, LEV, with its potentially fewer side effects, could be included in clinical algorithms as the first-choice ASM especially for VLBW.

Objective: This study aimed to evaluate the neurological and systemic outcomes of amantadine treatment in the acute phase of severe traumatic brain injury (TBI) in children. In addition, the potential factors associated with functional outcomes were analyzed. Methods: This retrospective cohort study analyzed data of pediatric patients with severe TBI. Amantadine treatment was administered to all patients who presented after 2022. The treatment protocol was initiated on the third day of hospitalization, at a daily dose of 6 mg/kg, and at 100 mg twice daily for older children. The Functional Status Scale (FSS) was used to assess mental status, vision, hearing, communication, motor abilities, respiration, and feeding both at discharge from intensive care unit (ICU) and again 6 months after the incident of TBI. Results: In this study, 60 patients had a median age of 14.5 years (IQR 8; range 2-17 years), while 32 patients received amantadine treatment. The length of median ICU stay and hospital stay were 11 and 20 days, respectively. At the 6-month follow-up, there was a significant improvement in FSS scores compared to those estimated at ICU discharge (P < .001), but no significant difference was observed between the amantadine and non-amantadine groups in terms of functional recovery, and inotrope requirement was identified as an independent risk factor for poor neurological outcome. Conclusion: Administration of amantadine did not provide a significant functional benefit. However, craniectomy was performed less frequently for patients who received amantadine. Amantadine treatment was well tolerated with a favorable safety profile.

Although cognitive involvement is well documented in Duchenne Muscular Dystrophy (DMD), it is rarely integrated into routine physiotherapy assessments. Therefore, this study aimed to examine the test - retest reliability and discriminative validity of the 10-Meter Walk Test (10MWT) under single-task, motor - motor dual-task, and cognitive - motor dual-task conditions in children with DMD. Twenty-three boys with DMD and 12 typically developing (TD) children completed the 10MWT under single-task, motor - motor dual-task, and cognitive - motor dual-task conditions. Walking time under each condition, dual-task costs (DTC), and test-retest reliability were evaluated. Reliability was quantified using intraclass correlation coefficients (ICC_(3,1)) based on a two-way mixed-effects model with absolute agreement for single measurements, and discriminative ability was examined using Receiver Operating Characteristic (ROC) curve analysis. Test-retest reliability ranged from moderate to high across conditions (ICC = 0.583-0.820). All test conditions showed excellent discriminative ability between DMD and TD children (AUC = 1.00 for single-task and motor dual-task; 0.993 for cognitive dual-task; p < 0.001). Children with DMD walked significantly slower than TD children in all conditions (p < 0.001) and exhibited significantly higher DTCs in motor-motor (p = 0.005) and cognitive-motor (p = 0.001) conditions. Within-group analyses demonstrated a significant stepwise deterioration from single-task to dual-task walking in both groups (p < 0.001). The 10MWT under single- and dual-task conditions is a reliable and highly discriminative tool for children with DMD. Beyond measuring motor performance, its dual-task versions allow physiotherapists to indirectly capture cognitive-motor interference, providing clinically meaningful information for more comprehensive functional monitoring and individualized rehabilitation planning in this cognitively affected population.

Objective: To compare upper extremity performance of ambulant children with Duchenne muscular dystrophy and typically developing peers under single- and dual-task conditions, and to examine its associations with mobility and balance. Design: Cross-sectional observational study. Setting: Data were collected at the Pediatric Neurology Department and the Pediatric Rehabilitation Unit of the Faculty of Physical Therapy and Rehabilitation. Participants: Twenty ambulant boys with Duchenne muscular dystrophy (6–12 years) and 19 age-matched typically developing peers. Intervention: Not applicable. Main measures: Upper extremity performance was assessed using the Nine-Hole Peg Test under single-task, motor dual-task, and cognitive dual-task conditions. Functional mobility and balance, as well as clinical scales, were also evaluated. Results: Children with Duchenne muscular dystrophy performed significantly slower than typically developing peers under cognitive dual-task conditions (p < 0.001) and under motor dual-task conditions for the left hand (p = 0.032). Slower dual-task performance was moderately associated with poorer balance and trunk control. Cognitive dual-task performance showed high diagnostic accuracy for identifying Duchenne muscular dystrophy (area under curve = 0.91–0.96). Conclusions: Dual-task paradigms may reveal functional vulnerability in upper-limb performance in ambulant children with Duchenne muscular dystrophy that is not evident during single-task testing. Increased cognitive–motor demands appear to exacerbate functional difficulties beyond muscle weakness. These findings suggest that dual-task assessment may complement conventional clinical evaluations and provide additional insight for rehabilitation planning.

Background: Ataxia‐telangiectasia (AT) is a rare disorder leading to multisystem involvement due to impaired DNA repair. Recent advances in targeted therapies highlight the importance of early diagnosis. This study aimed to evaluate clinical, radiological, and genetic variability in patients with AT and examine genotype–phenotype associations and diagnostic timing. Methods: A retrospective study was conducted on genetically confirmed AT patients followed in four pediatric neurology centers in Türkiye over a 12‐year period. Results: A total of 21 patients with AT were included; the median age at symptom onset was 26 months, and the median age at diagnosis was 60 months, with a diagnostic delay of 21 months. Ocular telangiectasia was present in all patients. Ataxia, oculomotor apraxia, and dysarthria were other common features. Involuntary movements and strabismus were each observed in 52.4%. Cerebellar atrophy was noted in 57.1%, and decreased immunoglobulin levels in 95.2%. No significant differences in the frequency of clinical findings were observed between early and late diagnosis groups, except that recurrent respiratory tract infections were significantly more common in the early‐diagnosis group ( p = 0.035). Conclusion: In this study, clinical variability and key clinical features of AT were identified. AT should be suspected and immunoglobulin levels assessed in patients with neurological symptoms and recurrent infections. Improving recognition of AT may contribute to earlier diagnosis and better outcomes.

Intellectual disability (ID) and epilepsy are often comorbid, but the pathways that lead to epilepsy in individuals with ID remain unclear. This study aims to explore the molecular pathways linked to epilepsy development in ID, providing insights into shared genetic mechanisms. Definitive ID-related genes were extracted from the SysNDD database, and their association with epilepsy pathways was assessed using gene set overrepresentation analysis. Enrichment was performed using Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Ontology (GO), and Disease Ontology (DO) terms. Pathways were classified based on their relevance to epilepsy, and the involvement of specific genes was analyzed. Approximately 75% of ID-related genes were associated with epilepsy. Enriched pathways in ID-related epilepsy genes included neurotransmitter signaling, ion channel regulation, and metabolic pathways such as “nicotine addiction” and “thermogenesis.” Key genes like GRIN2A, CACNA1A, and PIGB were found to be involved in multiple pathways, suggesting their potential as therapeutic targets. DO and GO terms indicated shared and distinct mechanisms between ID and epilepsy, with significant overlap in pathways such as “intellectual disability.” We performed overrepresentation analyses on curated gene sets; the results are descriptive and hypothesis-generating rather than causal. These insights provide potential targets for therapeutic interventions and highlight the need for further research into the genetic underpinnings of epilepsy in this population.

This pilot study aimed to assess the dual-task performance and balance ability in children and adolescents with Juvenile Myoclonic Epilepsy (JME). Additionally, it sought to investigate the impact of dual-task conditions on functional performance and explore relationship between balance ability and dual-task performance. Ten children and adolescents with JME (mean age 16.90 ± 1.20 years) were evaluated. Static and dynamic balance were assessed using the Balance Master System, with modified Clinical Test of Sensory Interaction on Balance (mCTSIB) and Limit of Stability tests measuring static and dynamic balance, respectively. The mCTSIB and TUG tests were performed under single- and dual-task (motor-motor, cognitive-motor) conditions. No significant differences were found in mCTSIB test between single-task and dual-task conditions (p > 0.05). However, TUG completion time increased under cognitive-motor dual-task conditions (p < 0.05). There was no significant correlation between balance and dual-task performance (p > 0.05). This exploratory pilot study, conducted without a control group, suggests that children with JME may face difficulties with tasks requiring both cognitive and motor functions, as cognitive-motor dual tasks significantly increased task completion time. Lower scores in certain balance measures suggest a potential risk of balance impairment. These findings underscore the importance of integrating both cognitive-motor dual-task and balance assessments into rehabilitation programs for children with JME.