Pediatric Neurology

BACKGROUND: The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB) or pathogenic/likely pathogenic (P/LP) based on the availability of updated data. We evaluate the frequency of VUS reclassification in our tertiary care epilepsy cohort undergoing epilepsy genetic panel (EGP) testing. METHODS: Patients with established diagnoses of epilepsy (neonates to 18 years of age) who underwent EGP testing between 2017 and 2022 from a single commercial laboratory were evaluated...

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BACKGROUND: This study aims to understand diagnosis communication experiences and preferences of youths with functional seizures and their parents. METHODS: Semistructured interviews with youths and their parents from a tertiary care children's hospital were conducted separately. We confirmed the diagnosis of functional seizures with the youth's treating providers. All interviews were audio recorded and professionally transcribed. Two coders performed thematic analysis and determined themes...

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BACKGROUND: Parents of neonates with seizures report persistent symptoms of depression, anxiety, and posttraumatic stress. We aimed to characterize the parent experience of caring for children impacted by neonatal seizures, including longitudinal assessment across childhood. METHODS: This prospective, observational, multicenter study was conducted at Neonatal Seizure Registry (NSR) sites in partnership with the NSR Parent Advisory Panel. Parents completed surveys at discharge; 12, 18, and 24 months; and 3, 4, 5, 7, and 8 years...

BACKGROUND: Everolimus therapy has been approved in Tuberous Sclerosis Complex (TSC), for drug-resistant epilepsy as adjunctive therapy. A novel anti-seizure medication is cenobamate, which was approved for adults as adjunctive treatment for focal-onset seizures in drug-resistant epilepsy and is now commonly used in patients with TSC. Drug-drug interactions between cenobamate and mammalian target of rapamycin (mTORi) have not been prospectively evaluated, even though these agents are frequently administered together...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: To evaluate the efficacy and safety of rituximab treatment for anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis without tumor in children. METHODS: Eighteen pediatric patients with NMDAR encephalitis treated with rituximab after failure of intravenous immunoglobulin (IVIG) and methylprednisolone treatment were analyzed retrospectively in terms of their medical history, clinical features, laboratory examination results, and treatments. The modified Rankin scale (mRS) score, peripheral blood CD19+ B cells, recurrence, and adverse events were used to evaluate the efficacy and safety of rituximab...

BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad, including periodic paralysis, ventricular arrhythmias with associated prolonged QT interval and U waves, and dysmorphic facial and skeletal features. Pathogenic variants of the KCNJ2 gene are linked to ATS. METHODS: We present two siblings with the same pathogenic mutation and facial characteristic of hypotelorism, yet with intrafamilial and sex-specific variability...

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BACKGROUND: Primary central nervous system tumors are the second most common cancer among children in high-income countries (HICs). These tumors are also the leading cause of cancer-related deaths in children in this setting. Studies from HICs report gliomas as the most common pediatric cancer. However, there is paucity of data from low- and middle-income countries as not many publications have been made in this field. METHODS: The objective was to describe the disparities in detection, treatment, and survival of children with central nervous system tumors in low-income countries (LICs) when compared with HICs, using a case series...

BACKGROUND: To identify early biomarkers that could predict later functional capabilities in preterm children with later cerebral palsy (CP). METHODS: Data from 968 preterm children with later CP were extracted from the Canadian Cerebral Palsy Registry. One hundred eighty-two infants were born before 27 weeks of gestation, 461 infants were born between 27 and 33 weeks, and 325 infants were born between 34 and 37 weeks. Univariate and chi-square analyses were conducted to measure the association between early objective biomarkers and later mobility status defined as Gross Motor Function Classification System (GMFCS) levels IV and V as well as tube feeding dependence...

Vestibular paroxysmia is an episodic vestibular disorder resulting from compression or irritation of the eighth cranial nerve. This disorder is a rare and difficult diagnosis in children. We report the case of a 16-year-old adolescent male with a history of syncope and coronavirus disease 2019 infection four months prior who presented with intermittent episodes of vertigo and unsteadiness several times a week. These events started abruptly, and he appeared frozen. However, he remained conscious and was able to answer questions...

BACKGROUND: This retrospective study aims to assess the added diagnostic utility and clinical value of a 3-Tesla neonatal brain magnetic resonance imaging after obtaining a 1-Tesla magnetic resonance imaging within the neonatal intensive care unit. METHODS: A cohort of 34 infants had an initial 1-Tesla magnetic resonance imaging and repeat imaging within 14 days in a 3-Tesla scanner. All infants were admitted to the level III neonatal intensive care unit at Brigham and Women's Hospital, and all images were interpreted by pediatric neuroradiologists...

BACKGROUND: This study aimed to explore the clinical utility of targeted MECP2 testing in a large cohort of females with neurodevelopmental delays. Our aim was to identify suitable candidates for testing based on prevailing diagnostic criteria. METHODS: Eligible participants with global developmental delay/arrest or regression before age 36 months underwent MECP2 testing. MECP2-positive patients were further categorized based on Rett syndrome (RTT) diagnostic criteria, including typical, atypical, possible, and unclassified, to assess disease typicality and progression with respect to age...

BACKGROUND: Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep. METHODS: As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS...

BACKGROUND: Myotonic dystrophy type 1 (DM1) is caused by mutations in the DMPK gene, and it is associated with cognitive deficits and intelligence below normative values. The objective of this systematic review and meta-analysis was to estimate the overall intelligence and proportion of intellectual development disorder (IDD) in the population with DM1 and its association with its onset. METHODS: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to January 2023...

BACKGROUND: Cerebral palsy (CP) is the most frequent cause of motor impairment in children. Although perinatal asphyxia was long considered to be the leading cause of CP, recent studies demonstrate its causation in only around one in 10 individuals with CP. Instead, genetic causes are increasingly demonstrated. We systematically performed clinical phenotyping and genetic investigations in a monocentric CP cohort, aiming to gain insight into the contribution of genetic variants in CP and its different subtypes...

BACKGROUND: After receiving a diagnosis of a neuromuscular condition, patients have to make their way through a convoluted network of community and state resources as health care shifts from being family and child centered to adult focused. This study examined the barriers to successful transition from patient and clinician perspectives. METHODS: Adolescents with a primary diagnosis of a neuromuscular condition who were aged 16 years and over in Queensland, Australia, and who had started the transition process were eligible...