Rett-Like Phenotype in a Patient with a Novel Pathogenic FBXW7 Variant
Annals of Child Neurology.2025;33(2):77-79. doi:10.26815/acn.2024.00724
Annals of Child Neurology
2002 (v1, n1) to Present ISSN: 1671-8925
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Annals of Child Neurology.2025;33(2):66-72. doi:10.26815/acn.2024.00759
Purpose:
This study aimed to compare the anxiety, depression, and quality of life (QOL) among caregivers of children with cerebral palsy and those caring for typically developing children.
Methods:
A cross-sectional, comparative study was conducted using convenience sampling to recruit 60 subjects. Anxiety, depression, and QOL were assessed with the Generalized Anxiety Disorder-7 Scale, the Patient Health Questionnaire-9, and the World Health Organization Quality of Life-BREF Scale, respectively.
Results:
The mean age of caregivers of children with cerebral palsy was 33.63±6.94 years, compared to 32±5.003 years for caregivers of typically developing children. Caregivers of children with cerebral palsy exhibited significantly higher levels of anxiety and depression, as well as poorer QOL, than those caring for typically developing children (P<0.05).
Conclusion
Caregivers of children with cerebral palsy experience higher levels of anxiety and depression and a poorer QOL compared to caregivers of typically developing children.
Annals of Child Neurology.2025;33(2):48-55. doi:10.26815/acn.2024.00787
Purpose:
Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging.
Methods:
This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history.
Results:
Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes.
Conclusion
This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.
Neuroleptospirosis in a Patient Admitted to the Pediatric Intensive Care Unit: A Rare Case Report
Annals of Child Neurology.2025;33(2):80-82. doi:10.26815/acn.2024.00801
New Insights into TMEM147-Related Neurodevelopmental Disorders: A Case Report and Literature Review
Annals of Child Neurology.2025;33(2):73-76. doi:10.26815/acn.2024.00780
Bridging the Gap in Epilepsy Care for Refugees in Nakivale Settlement, Uganda
Annals of Child Neurology.2025;33(2):56-65. doi:10.26815/acn.2024.00738
Purpose:
The global increase in forcibly displaced people, combined with insufficient aid, leaves many—in particular, people with epilepsy—in a dire medical state. Our study aimed to understand the demographics and clinical features of epilepsy in the Nakivale refugee settlement and to highlight our intervention through the ‘CARE FOR ALL’ project, which will run for 5 years.
Methods:
Between August 2022 and May 2023, we conducted four outreach visits across three locations in Uganda, consulting 161 patients. After excluding incomplete data, we analyzed the medical records of 81 epilepsy cases.
Results:
Of the 81 patients, most were male (65.4%), under 18 years old (77.8%), had low education levels (93.8%), and were predominantly Congolese (58.0%). The majority experienced focal onset seizures (51.8%), and epilepsy began before the age of one in 28.4% of patients. All patients had comorbidities, with intellectual impairment (70.4%) and cerebral palsy (27.2%) being the most common. Identified risk factors included antenatal complications, central nervous system infections, and war-related injuries. Before our intervention, the treatment gap was 76.5%; this was reduced to 0% after the project, which also significantly decreased seizure frequency (seizure freedom 30.9%, P<0.05). Carbamazepine was the most common antiseizure medication used (59.2%).
Conclusion
Refugees with epilepsy face major barriers to care that negatively impact their quality of life. A coordinated effort by governments and health agencies is crucial to overcome these challenges and improve outcomes for displaced individuals with epilepsy.
Annals of Child Neurology.2025;33(2):39-47. doi:10.26815/acn.2024.00668
Purpose:
This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease-modifying treatments.
Methods:
A 14-month observational study was conducted to evaluate changes in HRQoL and functional performance using the Pediatric Quality of Life Inventory (PedsQL) Infant Scales and the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). Caregiver burden was assessed through the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND). Motor function was evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Correlations between CHOP INTEND scores, functional performance, and caregiver burden were analyzed.
Results:
Eight patients with infantile-onset SMA and their caregivers participated, with a median treatment initiation age of 4.6 months (range, 1.1 to 15.1). CHOP INTEND scores showed significant improvement (P<0.001), whereas all PedsQL Infant Scale scores declined. Conversely, the PEDI-CAT revealed significant enhancements in daily activities, mobility, and social-cognitive domains (all P<0.001). Caregiver burden lessened across most dimensions (P<0.001), with the exception of the time-related burden (P=0.731). Higher CHOP INTEND scores correlated with improvements in PEDI-CAT domains and a reduction in caregiver burden related to sitting/play and transfer activities.
Conclusion
The study demonstrates the positive effects of nusinersen on functional performance and caregiver burden in patients with infantile-onset SMA. However, discrepancies were observed in HRQoL outcomes, suggesting a need for further research that includes SMA-specific outcome measures to comprehensively assess the treatment's impact on patients' lives.
Novel Mutation in the CACNA1B Gene Linked to Pediatric Focal Epilepsy
Annals of Child Neurology.2025;33(1):26-30. doi:10.26815/acn.2024.00696
Unveiling the Uncommon: A Case of Postoperative Inflammatory Sciatic Neuropathy in a Child
Annals of Child Neurology.2025;33(1):23-25. doi:10.26815/acn.2024.00528
A Surfer’s Myelopathy in a 7-Year-Old Boy after His First Time Surfing
Annals of Child Neurology.2025;33(1):31-33. doi:10.26815/acn.2024.00731
Country
Republic of Korea
Publisher
Korean Child Neurology Society
ElectronicLinks
https://www.annchildneurol.org/Editor-in-chief
Ji Eun Choi
editor@annchildneurol.org
Abbreviation
Ann Child Neurol
Vernacular Journal Title
ISSN
2635-909X
EISSN
2635-9103
Year Approved
2017
Current Indexing Status
Currently Indexed
Start Year
2019
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