Neuropediatrics最新文献

Solute carrier family 45 member A1 (SLC45A1) is a glucose brain transporter predominantly expressed in the developing and adult brain, including the cortex and cerebellum. Pathogenic variants in SLC45A1 have been described in four patients from two unrelated families with dysmorphic features, intellectual disability, and focal epilepsy. We describe the fifth SLC45A1 patient, presenting with focal refractory epilepsy responsive to ketogenic diet (KD) and acetazolamide.A 3-year-old boy presented with developmental delay and unexpected nighttime arousals followed by sudden right arm extension suggestive of epilepsy. Long-term video electroencephalogram and semiology were evocative of a left-frontal focus. Brain magnetic resonance imaging (MRI) was normal. Clinical exome, metabolic evaluation, and lumbar puncture were non-contributive. The patient was treated unsuccessfully with carbamazepine, valproate, levetiracetam, lamotrigine, topiramate, lacosamide, and clobazam. Presurgical evaluation was planned because of refractory epilepsy. Meanwhile, a KD was introduced, and the child became seizure-free with cognitive improvement. After 2 years, the KD was stopped, and seizures relapsed. Acetazolamide was introduced with seizure freedom for 10 months. Exome analysis revealed compound heterozygous variants p.Pro560Leu and p.Arg57Cys in the SLC45A1 gene.This case illustrates that KD and acetazolamide might be effective in SLC45A1-related epilepsy and underscores the importance of genetic testing in the presurgical evaluation of epilepsy.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare neuroinflammatory disease with an annual incidence of less than 1 case in 1,000,000 in the White population and a median age of onset at 40 years. NMOSD usually presents with optic neuritis and longitudinally extensive transverse myelitis. Various brainstem, cerebellar, diencephalic, and hemispheric symptoms may also occur. Early diagnosis and treatment are crucial for symptom management and prevention of relapses and disability. We report the case of a prepubertal girl, highlighting unique clinical and magnetic resonance imaging features and the risk of early parenchymal damage.

To assess the effectiveness of modified constraint-induced movement therapy (mCIMT) in improving upper limb function and grip strength in children with hemiplegic cerebral palsy (CP). A comprehensive search was conducted from inception to August 2024. Eligibility criteria were studies evaluating the effectiveness of mCIMT on upper limb function in children with hemiplegic CP aged over 2 years. The following data was extracted from each study: participant characteristics, intervention, outcome measures, follow-up, and key findings. The risk of bias and the quality of the evidence were evaluated using the PEDro scale and the grading of recommendations assessment development and evaluation (GRADE), respectively. A meta-analysis using a random-effect model was performed, and standardized mean difference (SMD) with a 95% confidence interval (CI) was estimated for upper limb function and grip strength. A total of 25 studies (1,115 children) were included. PEDro scale revealed 12 good-quality studies, 8 fair-quality studies, and 5 poor-quality studies. The currently available evidence showed a significant large effect of mCIMT in improving upper limb function (SMD: 1.14 [95% CI: 0.46-1.83]; p = 0.001; 12 studies; 454 children; very-low-quality evidence) and significant medium effect in improving grip strength (SMD: 0.63 [95% CI: 0.12-1.14]; p = 0.02; 3 studies; 92 children; low-quality evidence). mCIMT could improve upper limb function and grip strength in children with hemiplegic CP. However, due to the low and very low quality of evidence, further high-quality trials are needed to confirm these effects. PROSPERO registration number (CRD42023413525).

This study aims to evaluate difficulties in emotion regulation and accompanying psychiatric symptoms in adolescents diagnosed with migraine.The study included 30 adolescents aged 12 to 18 years diagnosed with migraine and 30 age- and sex-matched healthy controls. Participants were assessed using the Difficulties in Emotion Regulation Scale (DERS-16), the Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA), and the Revised Child Anxiety and Depression Scale (RCADS). Additionally, parents completed the Strengths and Difficulties Questionnaire (SDQ).Adolescents with migraine showed significantly greater difficulties in emotion regulation (DERS-16 total score, t = 3.521, p = 0.026, effect size = 0.64) and higher levels of depression, generalized anxiety and social anxiety (RCADS score t = 4.328, effect size = 1.32, p < 0.01; t = 2.354, effect size = 0.59, p = 0.022; t = 3.363, effect size = 1.12, p < 0.01, respectively) compared to controls. Parental assessments indicated higher internalizing and total difficulty scores in the migraine group (SDQ score z = 2.633, effect size = 048, p = 0.008; t = 2.419, effect size = 032, p = 0.016; t = 2.095, effect size = 029, p = 0.036, respectively). However, there were no significant group differences in the use of emotion regulation strategies (ERQ-CA score t = -0.236, p = 0.814; t = -0.957, p = 0.104, respectively).This study highlights the psychological and emotional difficulties experienced by adolescents with migraine, emphasizing the importance of early psychiatric evaluation and psychotherapeutic interventions aimed at improving emotion regulation skills and psychosocial interventions focusing on lifestyle modifications as part of comprehensive migraine management. Limitations include the cross-sectional design, reliance on self-report measures, and modest sample size, which may limit generalizability. Future longitudinal and neurobiologically informed research is needed to clarify causal relationships and intervention targets.

Aim: Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases. The aim of this study was to examine the effect of genotype differences on cardiac involvement in patients diagnosed with DMD with genetic analysis.

Methods: A retrospective analysis of DMD patients followed up in the Muscle Diseases Centre of Health Sciences University Izmir Tepecik Training and Research Hospital was done.

Results: Evaluation was made of 120 male DMD patients with a mean age of 9.66 ± 5.10 years. According to the genetic analysis results, 76.7% deletions, 15.8% mutations, and 7.5% duplications were determined. Of the mutations determined, 65.8% were between exons 44 and 54, 17.5% between exons 1 and 18, and 9.2% between exons 19 and 43, 5.8% were non-sense mutations, and 1.7% were on exons >54. In the cases determined with cardiac involvement, the mean age of onset was 11.87 ± 3.11 years. When ejection fraction (EF) <56% or fractional shortening (FS) <28% was accepted as systolic dysfunction cardiac effect, 12.5% of the cases were determined with cardiac involvement. Of the cases determined with cardiac effects, 86.7% were aged >10 years. Electrocardiography was evaluated as normal in 54.5%, sinus tachycardia in 24.2%, short PR in 15.2%, and right and left ventricle hypertrophy in 8.1%. No statistically significant difference was determined in mutation types and location according to the age of cardiac involvement. The left ventricle (LV) posterior wall thickness value determined in the exon 44-54 group was higher than in DMD cases with other mutations. Although not statistically significant, an important result was that the LV posterior wall and IVSed values were evaluated to be high.

Conclusion: The current study results and findings in literature have not found a clear relationship between genotypes and cardiac involvement in DMD cases.

Olfactory disorders have so far played a subordinate role in pediatric care, although children can also be affected. Due to a lack of awareness, the diagnosis can often only be made after numerous visits to the doctor, although it can significantly impact the quality of life. Olfactory disorders in adults are usually acquired, while congenital causes dominate in children. To date, there are no specific recommendations for diagnosis in children. This article deals with the prevalence, causes, and diagnostic approaches of olfactory disorders in pediatrics. A structured diagnostic approach is fundamental, including a medical history and psychophysical olfactory tests, supplemented by specific examinations depending on the suspected diagnosis. Therapeutic approaches are limited, with a focus on counseling and olfactory training.

We describe a set of monozygotic twins with Glutamate Ionotropic Receptor N-methyl-D-aspartate Type Subunit 2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the GRIN2B gene (c.2453T > C, p.Met818Thr). Twin A displayed extensive symmetric malformation of cortical development (MCD) resembling polymicrogyria, accompanied by shallow sulci, dilated lateral ventricles, and dysplastic appearances of the basal ganglia, corpus callosum, and hippocampi. In twin B, malformative features, such as reduced brain volume, MCD, shallow sulci, and dilated lateral ventricle, were confined to the left hemisphere. In combination with previously published data, our report highlights variable phenotypes associated with the p.(Met818Thr) pathogenic variant, specifically with a potential for asymmetric or even unilateral presentation. We discuss the potential interplay between genetic and environmental factors underlying this phenomenon within the context of monozygotic twins. In addition, we also highlight the importance of recognizing potential genetic underpinnings in the assessment of apparently unilateral brain malformations.