Pediatric Neurology[JOURNAL]
Sun
200 papers
Comment on: "Acute Necrotizing Encephalopathy in Children: Meta-Analysis of Observational Studies on the Efficacy of Steroid Treatment".
Manikya S, Vadhithala V, Kumar R … +1 more , Nainwal P
Pediatr Neurol · 2026 Jun · PMID 41895130 · Publisher ↗
Abstract loading — click title to view on PubMed.
Natural History of YWHAG-Associated Neurodevelopmental Disorder.
Morcos S, Falbo K, Seltzer L … +1 more , Bearden DR
Pediatr Neurol · 2026 Jun · PMID 41886798 · Publisher ↗
BACKGROUND: The YWHAG gene encodes a member of the 14-3-3 protein family important for cellular signaling and neuronal migration. Recent studies suggest its role in early-onset epilepsy, epileptic encephalopathy, and sei...
BACKGROUND: The YWHAG gene encodes a member of the 14-3-3 protein family important for cellular signaling and neuronal migration. Recent studies suggest its role in early-onset epilepsy, epileptic encephalopathy, and seizures in children. However, the natural history of this disorder has not been described. Here we report results of the first prospective natural history study to date in children with YWHAG-associated Neurodevelopmental Disorders (YWHAG-NDDs). METHODS: The YWHAG Natural History Study is a prospective, single site, nonrandomized, longitudinal study of individuals with neurodevelopmental disorders and/or seizures secondary to pathogenic variants in YWHAG. Participants were assessed using standardized assessments via video visits, review of medical records, neuroimaging, and electroencephalograms. Adaptive function was assessed using the Vineland-3 Adaptive Behavior Scales. This paper presents data on the first 20 participants in the study, characterizing the clinical presentation, natural history, and response to treatment of epilepsy in YWHAG-NDD. RESULTS: We identified 20 participants with YWHAG-NDD. Ninety-five percent presented with seizures, while one patient presented solely with developmental delays. The most commonly reported seizure types included generalized tonic-clonic seizures, myoclonic seizures, and absence seizures. Sixty percent of participants reported seizures in the setting of fever. Fifty-five percent of participants reported treatment-resistant epilepsy and 40% reported at least one episode of status epilepticus. Other notable clinical manifestations included mild to moderate delays in language skills, cognition, social skills, and motor skills. CONCLUSIONS: This study helps elucidate the natural history of YWHAG-NDD. Future research should focus on optimal treatments strategies for patients with YWHAG-NDD.
Health-Related Quality of Life in Children With Migraine: A Tertiary Care Center Experience.
Dayal A, Dhankhar B, Manna R … +3 more , Kumari K, Sabu S, Sachan D
Pediatr Neurol · 2026 May · PMID 41880804 · Publisher ↗
BACKGROUND: Migraine is a common childhood disorder with an initial presentation occurring at any age. It affects the quality of life significantly. Over the years many studies have been done. However, there is limited r...
BACKGROUND: Migraine is a common childhood disorder with an initial presentation occurring at any age. It affects the quality of life significantly. Over the years many studies have been done. However, there is limited research in pediatric population. METHODS: Hence, a cross-sectional observational study was done to determine whether migraine interferes with health-related quality of life (HRQL) in children and its association with the degree of disability. The fourth version of the Pediatric Quality of Life Inventory is the questionnaire for measuring HRQL in children. Seventy six children with the diagnosis of migraine were enrolled for this questionnaire based study. RESULTS: Mean HRQL score in our study population was 67.5. HRQL was significantly more affected in females, children with a higher frequency of migraine attack, with associated aggravating, relieving factors, night awakenings, and the degree of disability. CONCLUSIONS: Migraine has a significant association with the overall quality of life in children affecting both physical and psychosocial domains and the quality of life is significantly associated with the degree of disability.
Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A.
Herrmann A, Kuhn A, Hackenberg M … +6 more , Matilainen J, Mayer S, Groeschel S, Uhl M, Krägeloh-Mann I, Janzarik WG
Pediatr Neurol · 2026 May · PMID 41875837 · Publisher ↗
BACKGROUND: Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but initia...
BACKGROUND: Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but initially unspecific symptoms, diagnosed primarily through postnatal magnetic resonance imaging (MRI), with confirmation by genetic testing. This study examines the diagnostic process and key considerations for accurate diagnosis. METHODS: We retrospectively collected data from 65 children (33 girls, 32 boys) with genetically confirmed PCH2A as part of a Natural History Study. Data were gathered via parental questionnaires, interviews, and medical reports. The cohort was divided into two groups based on year of birth: children born before (n = 30) and after (n = 35) the identification of the pathogenic variant in 2008. RESULTS: Prenatally, in 4 of 21 cases with specialized ultrasound (gestational weeks 12-32), only unspecific cerebellar abnormalities were reported. One fetal MRI (week 31) revealed clear cerebellar hypoplasia, in two others (week 21 and 31), slight cerebellar abnormalities were reported. Postnatal neurosonography often indicated disease features (26/54), later confirmed by MRI (62/63). Clinical symptoms appeared at a median age of 0 months (range 0-6 months), often initially suggesting acute rather than congenital issues. In the group born after 2008, median time from first symptoms to genetic confirmation was 5 months. CONCLUSIONS: PCH2A presents early with nonspecific symptoms. Prenatal and postnatal ultrasound imaging can fail to detect the condition, with MRI being the gold standard for diagnosis. Over time, the diagnostic process, including genetic confirmation, has become faster.
Patterns of Response to Treatment and Outcome of Childhood Absence Epilepsy: A Multicenter Study From Saudi Arabia.
Alharthi RS, Alrifai MT, Alomari RD … +6 more , Alghurayer RY, Alkewaibeen A, Altuwaijri W, Alrumayyan A, Aldrees A, Almuqbil M
Pediatr Neurol · 2026 Jun · PMID 41875828 · Publisher ↗
BACKGROUND: Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome affecting school-aged children. While generally considered benign, recent studies indicate that a significant proportion of patients ex...
BACKGROUND: Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome affecting school-aged children. While generally considered benign, recent studies indicate that a significant proportion of patients experience pharmaco-resistance and neuropsychiatric comorbidities. This study aimed to investigate the outcomes of CAE patients across tertiary care centers in Saudi Arabia. METHODS: A retrospective cohort study was conducted at multiple tertiary care centers in Saudi Arabia. The study included 61 pediatric patients (≤14 years) with confirmed CAE diagnosis. Data were collected from electronic medical records. Response to treatment was defined as >50% reduction in seizure frequency from the baseline, while terminal remission was defined as one-year seizure-free off antiseizure medications. RESULTS: The study population had an equal gender distribution (50.8% male) with a median age of 7 years at diagnosis. Most patients (93.4%) had no comorbidities. The majority (88.5%) achieved response to appropriate antiseizure medications; of these responders, 27.8% achieved terminal remission, while 11.5% demonstrated no response. Isolated staring episodes were the predominant presentation (88.5%). Most patients (93.4%) were managed with monotherapy, with valproic acid (60.7%) being the most commonly prescribed medication, followed by ethosuximide (36.1%). Age at diagnosis showed a positive association with recurrence risk, though not statistically significant. CONCLUSIONS: CAE patients in Saudi Arabian tertiary care centers demonstrate favorable outcomes, with high response rates with monotherapy. Early diagnosis and treatment may improve prognosis, as suggested by the trend toward higher recurrence rates in patients diagnosed at older ages.
Contributors to Parenting Stress in Tuberous Sclerosis Complex at Preschool Age.
Klein C, Ferrario CA, Rajaraman RR … +2 more , Senturk D, McDonald NM
Pediatr Neurol · 2026 May · PMID 41861522 · Publisher ↗
BACKGROUND: This study aimed to identify child and family characteristics contributing to parenting stress in parents of young children with tuberous sclerosis complex (TSC). METHODS: Data on 98 children with TSC aged 3...
BACKGROUND: This study aimed to identify child and family characteristics contributing to parenting stress in parents of young children with tuberous sclerosis complex (TSC). METHODS: Data on 98 children with TSC aged 3 to 6 years old were gathered as part of a study on the assessment and treatment of behavior problems in TSC. Families recruited throughout North America participated in telehealth assessments, in which child developmental, behavioral, and medical history data were gathered, along with family demographics and parenting stress. The relationship between parenting stress and child and family variables was investigated through univariate and multivariate analysis. RESULTS: A substantial minority of parents reported elevated levels of parenting stress, with the greatest elevations in perceptions of their child as difficult. Higher child externalizing problems, internalizing problems, and social withdrawal contributed to greater parenting stress in multivariate analysis. Lower child adaptive skills were associated with more parenting stress. Financial problems related to medical care and child seizure severity also contributed to variation in parenting stress. CONCLUSIONS: Results offer novel insights into specific behavioral, developmental, and medical domains that present challenges when parenting a young child with TSC. Challenging child behaviors are a primary driver of parenting stress in families of preschool-aged children with TSC, along with other common traits, including social withdrawal and developmental delay. Addressing contributors to parenting stress through behavioral interventions and psychoeducation about expected developmental trajectories may enable parents to better manage the many demands of caring for a young child with TSC.
Corpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.
Karakas C, Warren AEL, Knowles JK … +26 more , Perry MS, Caraway A, Wong-Kisiel L, Javarayee P, Olaya J, Shrey D, Karia S, Sah J, Ostendorf AP, Tatachar P, Alexander AL, Eschbach K, Bolton J, Reddy SB, McCormack MJ, Singh R, Depositario-Cabacar D, Ciliberto M, Coryell J, Romanowski EF, McNamara N, Giraldo EG, Auguste K, Singhal NS, Clarke DF, PERC Surgery Workgroup and LGS Workgroup
Pediatr Neurol · 2026 May · PMID 41855704 · Publisher ↗
BACKGROUND: To elucidate the clinical profiles and surgical outcomes of patients with generalized tonic seizures (GTSs) undergoing corpus callosotomy (CC) or focal surgery (FS). METHODS: Subjects with GTS undergoing CC o...
BACKGROUND: To elucidate the clinical profiles and surgical outcomes of patients with generalized tonic seizures (GTSs) undergoing corpus callosotomy (CC) or focal surgery (FS). METHODS: Subjects with GTS undergoing CC or FS were identified using the Pediatric Epilepsy Research Consortium surgery database. Between-group comparisons were performed to assess differences in presurgical epilepsy characteristics and postsurgical seizure outcomes. RESULTS: Fifty-four patients (CC: 40 and FS: 14) included. Patients in the CC group had seizure onset at an older age (median = 1 year vs 0.4 years; P = 0.022), and were older at referral for phase-1 evaluation (median = 11.2 years vs 4.85 years; P = 0.026), and at time of surgery (median = 14 years vs 5.6 years; P = 0.008). The CC group showed higher rates of developmental delay (90% vs 57%; P = 0.013) and greater number of antiseizure medications attempted before surgery (median = 6 vs 4; P = 0.049). Electroencephalography localization also differed (P = 0.002), being most commonly generalized (64%, CC group) and multifocal (45%, FS group). Structural magnetic resonance imaging abnormalities were more common in FS group (92% vs 48%, P = 0.008). Median follow-up duration was 13.2 months (interquartile range = 5-24) in the CC group and 13.5 months in the FS group (interquartile range = 8-18). At last follow-up, FS group had a higher rate of seizure freedom (80% vs 19%; P = 0.0006). CONCLUSIONS: Our findings demonstrate differences in baseline characteristics and postsurgical outcomes of patients with GTS referred for FS and CC. FS yielded high seizure-freedom rates in focal cases. For patients with no discernible seizure focus, CC was often delayed, though outcomes were generally favorable and delays likely unwarranted.
Impact of a Structured Brain Care Bundle on Severe Germinal Matrix Hemorrhage-Intraventricular Hemorrhage in Very Preterm Neonates: A Retrospective Cohort Study.
Almazrooei A, Balubaid Y, Alkafi N … +3 more , Abu Zaid M, Aljeaid R, Abuaouf M
Pediatr Neurol · 2026 May · PMID 41855703 · Publisher ↗
BACKGROUND: Germinal matrix hemorrhage-intraventricular hemorrhage (GMH-IVH) remains a leading cause of neurologic morbidity and mortality in very preterm infants. Evidence supports the assertion that standardized neurop...
BACKGROUND: Germinal matrix hemorrhage-intraventricular hemorrhage (GMH-IVH) remains a leading cause of neurologic morbidity and mortality in very preterm infants. Evidence supports the assertion that standardized neuroprotective "Brain Care Bundles" (BCBs) can reduce GMH-IVH risk, but data from Middle Eastern Level III neonatal intensive care units are limited. METHODS: We performed a retrospective cohort study comparing pre-BCBs (January-December 2021; n = 80) versus post-BCB (January-December 2022; n = 77) cohorts of inborn infants ≤30 weeks' gestation and or birth weight ≤1500 g. The ten-component BCBs included antenatal steroids, magnesium sulfate, delayed cord clamping, thermoregulation, midline head positioning, minimal handling, permissive hypercapnia, targeted oxygen saturation, hemodynamic thresholds, and neurodevelopmental support. The primary outcome was rate of severe GMH-IVH (Papile grade III-periventricular hemorrhagic infarction) on cranial ultrasound after 72 hours. Secondary outcomes included any-grade GMH-IVH, post-hemorrhagic hydrocephalus, necrotizing enterocolitis (≥stage 2), late-onset sepsis, bronchopulmonary dysplasia, retinopathy of prematurity (≥stage 3), and mortality. RESULTS: Baseline demographics were comparable except for a higher male proportion in the pre-BCBs cohort (63.7% vs 44.0%; P = 0.017). Delayed cord clamping and completion of antenatal steroids improved significantly post-BCBs (P < 0.05). Severe GMH-IVH incidence declined from 15% to 5% (AR = 10.2%; P = 0.045); BCBs implementation remained independently protective in multivariable analysis (adjusted odds ratio = 0.52; 95% confidence interval: 0.27-0.99; P = 0.048). Late-onset sepsis decreased markedly (P = 0.002). No significant differences were found in rates of necrotizing enterocolitis, bronchopulmonary dysplasia, retinopathy of prematurity, hydrocephalus, or mortality. CONCLUSIONS: Implementation of the BCBs in a high-risk Middle Eastern neonatal intensive care unit was associated with significantly reduced severe GMH-IVH and late-onset sepsis, along with better antenatal steroid adherence. These results support adopting neuroprotective BCBs as a quality improvement strategy in vulnerable preterm populations.
Cognitive Ability in Pediatric-Onset Multiple Sclerosis: A Case Series.
Ballarà Petitbò M, Orduña BE, Oyaga de Frutos E … +4 more , Muñiz IS, Melero Llorente J, Duat Rodríguez A, Cantarín Extremera V
Pediatr Neurol · 2026 May · PMID 41844096 · Publisher ↗
BACKGROUND: Pediatric-onset multiple sclerosis (POMS) emerges during a crucial stage of neurodevelopment, conferring special vulnerability to neurological damage and cognitive decline. This underscores the importance of...
BACKGROUND: Pediatric-onset multiple sclerosis (POMS) emerges during a crucial stage of neurodevelopment, conferring special vulnerability to neurological damage and cognitive decline. This underscores the importance of addressing cognitive domain and identifying its prognostic factors and treatment. METHODS: Retrospective descriptive study of a cohort of children with POMS in a tertiary pediatric hospital from 2010 to 2023. Cognitive and clinical characteristics during neuropsychological assessments were analyzed. RESULTS: Twelve patients were included (average disease onset 11.5 years). Cognitive assessments showed an overall improvement, being close to statistical significance in visual perceptual organization and speed/accuracy of the dominant hand. Earlier disease onset and younger age at the time of assessment were associated with worse nonverbal skills. A higher number of relapses, Expanded Disability Status Scale score, increased lesion burden, and basal ganglia involvement were significantly correlated with worse cognitive performance in multiple domains. Fingolimod therapy and longer treatment duration were related to better cognitive outcomes. CONCLUSIONS: Children with POMS presenting at a younger age are at increased risk of cognitive impairment, especially during the early stages of the disease. Some clinical and radiological factors can predict worse intellectual performance, while high-efficacy disease-modifying treatment like Fingolimod and its precocious initiation is associated with better cognitive prognosis.
Health-Related Quality of Life in Children With Epilepsy on Antiseizure Medications: A Parent-Reported Study in Addis Ababa, Ethiopia.
Negussie AS, Dehan MF, Mekonnen SA … +2 more , Lambebo A, Zelleke TG
Pediatr Neurol · 2026 May · PMID 41844095 · Publisher ↗
BACKGROUND: Children with epilepsy (CWE) face multiple challenges that impact their emotional, behavioral, social, and academic lives. Despite the importance of health-related quality of life (HRQOL), few studies have ex...
BACKGROUND: Children with epilepsy (CWE) face multiple challenges that impact their emotional, behavioral, social, and academic lives. Despite the importance of health-related quality of life (HRQOL), few studies have explored this in low-resource settings. This study assesses HRQOL among Ethiopian CWE using the parent-reported Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-16). METHODS: A hospital-based cross-sectional study was conducted at Yekatit 12 Hospital Medical College's Pediatric Neurology Clinic from May to July 2022. The QOLCE-16, which measures cognitive, emotional, social, and physical functioning, was administered to parents of 108 CWE. Sociodemographic and clinical data were collected via structured interviews. Data were analyzed using SPSS (version 27). Independent t-tests, analysis of variance, and multiple linear regression were employed. RESULTS: The mean total QOLCE-16 score was 67.5 ± 30.4. Higher HRQOL scores were associated with school attendance, monotherapy, absence of comorbidities, and good seizure control. Children living with both parents and those with married or privately employed parents also had significantly better HRQOL. Multiple linear regression showed that comorbidities (β = 0.615, P < 0.001), school attendance (β = -0.225, P = 0.001), ongoing seizures (β = -0.187, P = 0.034), and child living arrangements (β = 0.173, P = 0.010) significantly predicted HRQOL scores. CONCLUSIONS: HRQOL in CWE is significantly influenced by clinical and family factors. Improving seizure management, encouraging school attendance, and strengthening family support are critical. Context-sensitive and multidisciplinary interventions are essential to improve outcomes.
Quantifying Disability in Children Challenged by Communicative and Cognitive Disorders Using the International Classification of Functioning, Disability and Health, Children and Youth Version Checklist.
Mahida K, Rajendra Jagtap S
Pediatr Neurol · 2026 May · PMID 41825262 · Publisher ↗
Abstract loading — click title to view on PubMed.
Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
Minderhoud CA, Brilstra EH, Jansen FE … +2 more , Braun KPJ, van Hasselt PM
Pediatr Neurol · 2026 May · PMID 41825261 · Publisher ↗
BACKGROUND: Before diagnostic whole exome sequencing, monogenic/chromosomal developmental and epileptic encephalopathies (DEEs) were frequently misdiagnosed as mitochondrial disorders (MDs) with epilepsy, due to overlapp...
BACKGROUND: Before diagnostic whole exome sequencing, monogenic/chromosomal developmental and epileptic encephalopathies (DEEs) were frequently misdiagnosed as mitochondrial disorders (MDs) with epilepsy, due to overlapping clinical and biochemical features. Assessing muscle functional assays in patients with a genetic diagnosis and epilepsy offers a unique opportunity to explore mitochondrial dysfunction in monogenic/chromosomal DEEs, in comparison to the mitochondrial dysfunction observed in genetically confirmed MDs. METHODS: In this retrospective cohort study, clinical and biochemical data were extracted from patients suspected of MD with epilepsy who underwent muscle/fibroblast biopsy (2005-2015). Patients were classified into four groups based on the final diagnosis. Mitochondrial Disease Criteria scores were assigned. Statistical analyses were conducted using Fisher's exact, analysis of variance, and Kruskal-Wallis tests. RESULTS: Of 27 included participants, eleven (40.7%) had DEEs, four (14.8%) had genetically confirmed MDs, eight (29.6%) were suspected MD cases without genetic confirmation, and four (14.8%) had nonmitochondrial metabolic diseases. Mitochondrial dysfunction was common across all groups; 85% of participants met probable/definite Mitochondrial Disease Criteria, over 70% had elevated plasma lactate (>2.5 mmol/L), and 92% exhibited impaired adenosine triphosphate production. Surprisingly, moderate to severe complex dysfunction was observed in all groups except genetically confirmed MDs. CONCLUSIONS: Our findings indicate that mitochondrial dysfunction is prevalent in nonmitochondrial DEEs. Patients previously diagnosed with an MD based only on muscle/fibroblast biopsy may benefit from whole exome sequencing to identify genetic variants, for which targeted therapy may be available. Future research should explore whether treatment or prognosis of nonmitochondrial DEEs should be tailored to improve mitochondrial function.
Electroencephalography-Based Machine Learning Models for Predicting Ketogenic Diet Outcomes in Pediatric Drug-Resistant Epilepsy.
Hung PL, Chen JP, Lin TP … +4 more , Hsieh TY, Chen YF, Su TY, Peng SJ
Pediatr Neurol · 2026 May · PMID 41825260 · Publisher ↗
BACKGROUND: Ketogenic diet therapy (KDT) is an established treatment for drug-resistant epilepsy (DRE); however, methods for predicting its effectiveness remain underdeveloped. This study evaluated various machine learni...
BACKGROUND: Ketogenic diet therapy (KDT) is an established treatment for drug-resistant epilepsy (DRE); however, methods for predicting its effectiveness remain underdeveloped. This study evaluated various machine learning (ML) models in predicting responses to KDT among DRE patients based on electroencephalography data. METHODS: Using leave-one-out cross-validation, this study evaluated 19 ML classifiers in predicting the outcomes of 90 DRE patients based on absolute and relative power, as well as functional connectivity measures (phase-locking value, phase lag index [PLI], and weighted PLI) across standard frequency bands. KDT significantly reduced seizure frequency at three and 6 months after initiation. RESULTS: The most effective classifier at 3 months was a Coarse Tree classifier trained on absolute power (recall = 0.933, precision = 0.767, F2 = 0.894, area under the receiver operating characteristic curve = 0.607). The most effective classifier at 6 months was a Gaussian Naive Bayes classifier trained on weighted PLI + relative power (recall = 0.759, precision = 0.854, F2 = 0.776, area under the receiver operating characteristic curve = 0.603). CONCLUSIONS: This study identified the most effective ML models for predicting KDT outcomes in DRE patients. The results highlight the potential of electroencephalography-based ML tools for guiding KDT treatment in clinical practice.
Retrospective Diagnosis of Mineralizing Lenticulostriate Vasculopathy in Childhood Arterial Ischemic Stroke.
Goraya JS, Kaur S, Goraya KJS … +1 more , Kaur S
Pediatr Neurol · 2026 May · PMID 41825259 · Publisher ↗
BACKGROUND: Mineralizing lenticulostriate vasculopathy (mLSV), has recently been recognized as a risk factor for basal ganglia stroke in children after minor head trauma. Diagnosis may be missed if head computed tomograp...
BACKGROUND: Mineralizing lenticulostriate vasculopathy (mLSV), has recently been recognized as a risk factor for basal ganglia stroke in children after minor head trauma. Diagnosis may be missed if head computed tomography (CT) is not performed or findings of basal ganglia calcification disregarded. METHODS: Cohort of children with basal ganglia stroke in whom the diagnosis of mLSV was assigned retrospectively. RESULTS: Sixteen children included 11 boys and 5 girls, aged from 20 months to 15 years, who had had basal ganglia stroke in the past, met the inclusion criteria. None had previously received the diagnosis of mLSV. Twelve children presented with persistent hemiparesis after an acute stroke, 3 with seizures and 1 with migraine. Age of stroke onset, available in 15 children, ranged from 6 months to 48 months (mean 15.1 months). Interval between the stroke onset (n = 15) and diagnosis of mLSV was 8 months to 168 months (mean 46.3 months) being 2 years to 10 years in 9 and >10 years in 2 children. History of minor head trauma preceding the basal ganglia stroke was noted in 10 (62.5%) cases. Two children who presented with seizures had had complete motor recovery from stroke. Silent, asymptomatic basal ganglia strokes without any motor deficits were observed in 2 children. In 6 children, already available CT images and in 10 children head CT performed in our hospital confirmed the diagnosis of mLSV. CONCLUSIONS: Retrospective diagnosis of mLSV is possible and has implications for treatment and prognosis.
What Do We Currently Know About Functional Tic-Like Behaviors: A Topical Review.
Andersen K, Szejko N, Müller-Vahl KR … +4 more , Cavanna AE, Hedderly T, Greenberg E, Debes NM
Pediatr Neurol · 2026 May · PMID 41819028 · Publisher ↗
BACKGROUND: During the last 5 years, functional tic-like behaviors (FTLBs) have been the center of an increasing amount of scientific research. PURPOSE: The purpose of this review was to collect this research and create...
BACKGROUND: During the last 5 years, functional tic-like behaviors (FTLBs) have been the center of an increasing amount of scientific research. PURPOSE: The purpose of this review was to collect this research and create an overview of what is currently known about the patient group. METHODS: PubMed, EMBASE, and Web of Science were systematically searched for relevant papers, which were then sorted based on set inclusion and exclusion criteria. This process resulted in twenty-four papers selected for extraction, the results of which were summarized. RESULTS: The results were split into three topics: characteristics, follow-ups, and treatment. Across studies on characteristics, patients with FTLB have overall higher symptom severity and complexity and a higher prevalence of anxiety and depression compared to the patients with Tourette syndrome included in the studies. The patients with Tourette syndrome had a higher prevalence of simple tics and comorbid attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. However, in both populations there was considerable heterogeneity in both comorbidity profile as well as the characteristics of vocalizations and movements. The follow-up literature was relatively small but showed a general reduction in FTLB patients' symptoms over time, although spontaneous remission was rare. The treatment literature, which consisted of just two articles, showed good benefit of cognitive therapies. CONCLUSIONS: Overall, the FTLB patient group presents with a wide variety of symptoms, which tends to persist but responds well to cognitive treatment. More research is needed particularly within the treatment literature.
Impact of Thyroxine Treatment on Myelination in Premature Neonates With Intraventricular Hemorrhage: An Magnetic Resonance Imaging-Based Approach.
Ballabh P, Lee V, LaGamma EF … +1 more , Panigrahy A
Pediatr Neurol · 2026 May · PMID 41806496 · Publisher ↗
BACKGROUND: Intraventricular hemorrhage (IVH) remains a major complication of prematurity. Survivors of IVH suffer from cerebral palsy, cognitive deficits, and neurobehavioral disorders. Thyroxine (T) treatment in preter...
BACKGROUND: Intraventricular hemorrhage (IVH) remains a major complication of prematurity. Survivors of IVH suffer from cerebral palsy, cognitive deficits, and neurobehavioral disorders. Thyroxine (T) treatment in preterm rabbits with IVH enhances the proliferation and maturation of oligodendrocytes, restoring myelination and neurological recovery. We hypothesized that T treatment of neonates with grade III IVH or periventricular echo density would promote white matter recovery, as evaluated by magnetic resonance imaging-diffusion tensor imaging metrics. METHODS: We randomized preterm neonates with grade III IVH or periventricular echo- density (Volpe's IVH grading) of 23-27 weeks of gestation into T treatment and no treatment groups (n = 7, each arm). Neonates in the T group received thyroxine 8 μg/kg/d divided into two doses for 42 days. Magnetic resonance imaging with diffusion tensor imaging (DTI) was performed at 36 weeks postmenstrual age. The DTI analysis methods used for neonates with IVH were validated in 130 neonates previously diagnosed with IVH. RESULTS: It is feasible to recruit and retain preterm neonates with IVH in a T treatment study. The semiautomated seed-based tractography analysis revealed that DTI metrics, including mean, radial, and axial diffusivity, were reduced in the splenium of T4-treated neonates compared with untreated controls. CONCLUSIONS: The data suggest that T treatment enhances white matter recovery and myelination in neonates with moderate-to-severe IVH. This pilot study establishes a solid foundation for confirming this effect through a large multicenter clinical trial in preterm neonates with IVH.
Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments.
Townsend EL, Kiefer M, Leiro B … +4 more , Gillan E, Marion J, Khan A, Tavakkoli F
Pediatr Neurol · 2026 May · PMID 41806495 · Publisher ↗
BACKGROUND: The increasing use of decentralized and hybrid clinical trials generates a critical need for validation of remote virtual assessments in pediatric rare diseases. This study evaluates the concordance between s...
BACKGROUND: The increasing use of decentralized and hybrid clinical trials generates a critical need for validation of remote virtual assessments in pediatric rare diseases. This study evaluates the concordance between standardized motor assessments obtained remotely and in-person over 2 years in children with Canavan disease. METHODS: Thirteen participants completed paired remote/in-person motor assessment visits with one of 5 trained physical therapist raters. Paired Hammersmith Infant Neurological Exam Section 2 (HINE-2) Motor Milestones and Gross Motor Function Measure (GMFM-88) scores were compared using Lin's Concordance correlation coefficients (CCCs) and Bland-Altman plots. RESULTS: HINE-2 total scores from 85 remote/ in-person visit pairs were highly correlated (Lin's CCC = 0.98; P < 0.001) with low systematic assessment method bias and high precision. GMFM-88 remote/ in-person total raw scores were also highly correlated (Lin's CCC = 0.98; P < 0.001) with low systematic assessment method bias and modest difference score variability. Estimated mean paired differences between remote and in-person total scores was 0.01 for HINE-2 and 0.54 for GMFM-88. CONCLUSIONS: Findings from this study support the utility and validity of two remote motor clinical outcome assessments in children with Canavan disease and highlight the potential value of combining a motor milestone assessment (HINE-2) with a granular evaluation of motor function (GMFM-88) for a more comprehensive evaluation in medically high-risk children.
Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey.
Öz Yıldız S, Bulut N, Alemdaroğlu-Gürbüz İ … +9 more , Debbağ S, Göçmen R, Hızarcıoğlu Gülşen H, Özçelik U, Demirkıran G, Kanbak M, Tunca Ö, Yazıcı M, Haliloğlu G
Pediatr Neurol · 2026 May · PMID 41806494 · Publisher ↗
BACKGROUND: To evaluate long-term outcomes (motor function, ventilation, nutrition, scoliosis, neurophysiological assessments) of pediatric spinal muscular atrophy (SMA) patients treated with nusinersen. METHODS: Forty-s...
BACKGROUND: To evaluate long-term outcomes (motor function, ventilation, nutrition, scoliosis, neurophysiological assessments) of pediatric spinal muscular atrophy (SMA) patients treated with nusinersen. METHODS: Forty-six patients (19 girls, 27 boys; [SMA type 1 (n = 18), type 2 (n = 15), type 3 (n = 13)]) are included to this retrospective study. RESULTS: Median baseline age of SMA type 1, 2, and 3 patients were 6.5 (1.0-123.0); 112.0 (50.0-178.0); 88.0 (31.0-190.0) months; median duration of treatment for type 1, 2, and 3 was 15.2 (6.1-47.4), 38.0 (9.0-44.8), 41.8 (6.6-44.7) months, respectively. Median baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders score was 23.0 (0.0-38.0) points for type 1. Median baseline Hammersmith Functional Motor Scale Expanded score for type 2 and 3 was 4.0 (1.0-26.0) and 41.0 (17.0-62.0) points, respectively. At last assessment; 3 type 1 patients were able to walk with support; 3 patients with type 3 lost ability of independent walking; median Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders score was 41.0 (3.0-64.0) points for type 1, median Hammersmith Functional Motor Scale Expanded score was 8.0 (4.0-30.0) points for type 2, and 48.0 (28.0-64.0) points for type 3. There was an overall significant negative correlation between the age of onset of treatment and motor score in all SMA types (P < 0.001). Respiratory (n = 12) and feeding (n = 5) support, scoliosis (n = 33), cognitive involvement/language delay (n = 6), autistic features (n = 2), and epilepsy (n = 2) were additional features. CONCLUSIONS: This cohort represents a heterogeneous symptomatic SMA population treated with nusinersen. This real-life data echoes that early initiation of treatment positively affects outcome with gains in motor function and/or stabilization and highlights emerging cognitive involvement. There is a mismatch in outcome parameters, and multidisciplinary care plays an ever-important role in the era of disease-modifying treatments.
Deciphering the Breathless Future: A Novel Approach to Predicting Respiratory Failure in Children With Guillain-Barré Syndrome.
Yu Z, Luo H, Li Y … +7 more , Ma J, Yang H, Zhang Q, Wang J, Cheng M, Hong S, Jiang L
Pediatr Neurol · 2026 May · PMID 41795250 · Publisher ↗
BACKGROUND: The applicability and utility of clinical predictive models for respiratory failure in the pediatric Guillain-Barré syndrome (GBS) and Asian population are significantly constrained. Therefore, we aim to deve...
BACKGROUND: The applicability and utility of clinical predictive models for respiratory failure in the pediatric Guillain-Barré syndrome (GBS) and Asian population are significantly constrained. Therefore, we aim to develop and validate a clinical prediction model to predict respiratory failure risk in pediatric GBS patients in China, alongside the economic immunological biomarkers in decision-making, and evaluate the Erasmus GBS Respiratory Insufficiency Score (EGRIS)-Kids score's efficacy. METHODS: The retrospective study originated from our pediatric GBS cohort at Children's Hospital of Chongqing Medical University during 2014-2022. We utilized logistic regression to identify predictors and construct a nomogram and web-based dynamic nomogram. The net reclassification index and integrated discriminant improvement index were used to compare models after incorporating new indices, with bootstrapping validation. RESULTS: Our study included 175 children, among which 23 (13%) patients have developed respiratory insufficiency. Variables included in our score were: age (odds ratio [OR] 1.23), bulbar palsy (OR 23.17), bilateral hip flexion (OR 0.75), and platelet-to-lymphocyte ratio (PLR; OR 2.47). The area under the receiver operating characteristic curve of the nomogram was 0.899 (95% confidence interval 0.839-0.960). The calibration plots showed an adequate consistency between the reported and predicted occurrence. The EGRIS-Kids model yielded an area under the receiver operating characteristic curve of 0.849 (95% confidence interval 0.754-0.944) in our cohort and the incorporation of PLR exhibited an incremental value of 12.51% (P = 0.03). CONCLUSIONS: We performed the first external validation of the EGRIS-Kids score in Chinese children with GBS. Furthermore, we developed a new predictive model incorporating the PLR, which shows promise and additional value but requires further external validation.
Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape.
Patel R, Carruth A, Kundrat K … +2 more , Kousa Y, Bharucha-Goebel D
Pediatr Neurol · 2026 May · PMID 41791198 · Publisher ↗
Spinal muscular atrophy (SMA) is an inherited lower motor neuron disorder resulting from autosomal recessive variants in the survival motor neuron protein (SMN1) located on chromosome 5q. Previously the most common inher...
Spinal muscular atrophy (SMA) is an inherited lower motor neuron disorder resulting from autosomal recessive variants in the survival motor neuron protein (SMN1) located on chromosome 5q. Previously the most common inherited cause of infant mortality, the development of SMN-restoring disease-modifying therapies combined with the expansion of newborn screening programs for SMA, have improved motor function and survival. With improved function and survival, new questions are emerging around the role of combining multiple SMN-restoring therapies or SMN-restoring therapies with newer therapeutic agents targeting other pathways such as neuromuscular transmission or muscle growth. Additionally, with the earlier initiation of SMN-restoring disease-modifying therapies, the assessment of long-term treatment durability, motor function attained and retained, neurodevelopment, and potential emerging phenotypes or symptoms in individuals living with SMA will need to be explored.
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe