Pediatric Neurology

BACKGROUND: Hemispherectomy is an optimal treatment for patients with Sturge-Weber syndrome (SWS) affecting the whole hemisphere; however, a consensus has not been reached regarding therapeutic choices for those with involvement of two to three lobes. In this study, we compared seizure and cognitive outcomes between medical and surgical treatment groups in patients with multilobar involvement. METHODS: We evaluated 50 patients with multilobar involvement. Surgical indications included (1) antiepileptic drug (AED)-resistant seizures; (2) developmental delay; and (3) cortical atrophy...

Prenatal diagnosis of fetal brain abnormalities is rapidly evolving with the advancement of neuroimaging techniques, thus adding value to prognostic counseling and perinatal management. However, challenges and uncertainties persist in prenatal counseling due to limitations of prenatal imaging, continued development and maturation of the brain structure, and the heterogeneity and paucity of outcome studies. This topical review of fetal neurological consultations highlights prenatally diagnosed brain abnormalities that challenged prognostic counseling and perinatal management...

No abstract text is available yet for this article.

Nearly 10% of children and adolescents in the United States experience migraine. Pharmacologic treatment of migraine in adolescents is limited due to only few US Food and Drug Administration (FDA)-approved medications, limited efficacy, or lack of tolerability. Remote Electrical Neuromodulation (REN) is a nonpharmacologic abortive treatment for migraine, cleared by the FDA for patients aged 12 years and above. This study evaluated real-world efficacy of REN in adolescents aged 12 to 17 years. Real-world data were collected from patients aged 12 to 17 years treated with the REN device (Nerivio) from January 1, 2021, to May 31, 2022...

The AIFM1 gene encodes a mitochondrial protein that acts as a flavin adenine dinucleotide-dependent nicotinamide adenine dinucleotide oxidase and apoptosis regulator. Monoallelic pathogenic AIFM1 variants result in a spectrum of X-linked neurological disorders, including Cowchock syndrome. Common features in Cowchock syndrome include a slowly progressive movement disorder, cerebellar ataxia, progressive sensorineural hearing loss, and sensory neuropathy. We identified a novel maternally inherited hemizygous missense AIFM1 variant, c...

BACKGROUND: We aimed to assess the presence of sleep disturbances in adolescents with idiopathic intracranial hypertension (IIH) and to determine whether demographic, anthropometric, and clinical factors are associated with disrupted sleep. METHODS: Sleep disturbances and patterns were evaluated in a cohort of adolescents (aged 12 to 18 years) with ongoing IIH and compared with a healthy age- and sex-matched control group. All participants responded to three self-rating questionnaires: the School Sleep Habits Survey (SSHS), the Pediatric Sleep Questionnaire (PSQ), and the Depression, Anxiety, and Stress Scale...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

BACKGROUND: Recovery from a brain injury occurs in varying degrees. The objective of this study was to investigate the concurrent validity of a parent-reported 10-point scale for degree of recovery, Single Item Recovery Question (SIRQ), in children with mild traumatic brain injury (mTBI) or complicated mTBI (C-mTBI) compared with validated assessments of symptom burden (Post-Concussion Symptom Inventory Parent form-PCSI-P) and quality of life (Pediatric Quality of Life Inventory [PedsQL])...

BACKGROUND: Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date. METHODS: A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into two groups: a hypoglycemic group, with at least one episode of hypoglycemia, and a nonhypoglycemic group. The groups were compared according to gait function, epilepsy, intellectual disability, constipation, gastroesophageal reflux, gastrostomy, weight percentile, scoliosis, the use of a ventilator device, the use of a feeding device, neuromuscular disease swallowing status scale, and type of mutation...

BACKGROUND: The efficacy and safety of lacosamide (LCM) monotherapy in Chinese pediatric patients with epilepsy have not been established. Therefore, this real-world retrospective study aimed to assess the efficacy of 12 months after achievement the maximal dose and tolerability of LCM as monotherapy for epilepsy treatment in pediatric patients. METHODS: Pediatric patients were administered LCM monotherapy in two ways: primary or conversion monotherapy. Seizure frequency was recorded as an average per month for the preceding three months at baseline and then at each follow-up period for three, six, and 12 months...

BACKGROUND: Children with cerebral palsy develop foot deformities due to a combination of factors including muscle shortening, hypertonia, weakness, and cocontraction of muscles acting at the ankle joint resulting in an altered gait pattern. We hypothesized these factors affect the peroneus longus (PL) and tibialis anterior (TA) muscles couple in children who develop equinovalgus gait first followed by planovalgus foot deformities. Our aim was to evaluate the effects of abobotulinum toxin A injection to the PL muscle, in a cohort of children with unilateral spastic cerebral palsy and equinovalgus gait...

BACKGROUND: Headache is a common presenting condition for patients seen in the pediatric emergency department (ED). Intranasal (IN) sumatriptan is a well-tolerated and safe abortive treatment for migraine headache, but it is infrequently administered in pediatric EDs. In this study we characterize an ED migraine pathway that uses IN sumatriptan as a first-line treatment. METHODS: We performed retrospective chart analysis from a single center, reviewing a cohort of patients treated on an ED migraine pathway between October 2016 and February 2020...

BACKGROUND: An estimated 26% to 33% of pediatric patients have at least one medication error at hospital discharge. Pediatric patients with epilepsy may be at greater risk due to complex medication regimens and frequent hospitalizations. This study aims to quantify the proportion of pediatric patients with epilepsy experiencing medication problems after discharge and determine if medication education decreases these problems. METHODS: This was a retrospective cohort study including pediatric patients with epilepsy-related hospital admissions...

BACKGROUND: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. METHODS: We ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy...

BACKGROUND: Subcortical band heterotopia (SBH) is a rare malformation of the cortical development characterized by a heterotopic band of gray matter between cortex and ventricles. The clinical presentation typically includes intellectual disability and epilepsy. PURPOSE: To evaluate if the Extended Glasgow Outcome Scale-pediatric version (EGOS-ped) is a feasible tool for evaluating the functional disability of patients with (SBH). METHOD: Cross-sectional multicenter study of a cohort of 49 patients with SBH (female n = 30, 61%), recruited from 23 Italian centers...

BACKGROUND: High-grade intraventricular hemorrhage (IVH), including grade III and grade IV IVH, is known to impact neurodevelopmental outcome of preterm infants, but prognosis remains difficult to establish due to confounding factors and significant variations in the reported outcomes. The aim of this study was to compare the neurodevelopmental outcome of preterm infants with or without severe IVH. METHODS: A retrospective case-control study was conducted including preterm infants with gestational age <32 weeks hospitalized between 2009 and 2017 in a level III neonatal intensive care unit...

BACKGROUND: To investigate clinical manifestations and factors of perioperative brain injury (PBI) after surgical repair of coarctation of the aorta (CoA) combined with other heart malformations under cardiopulmonary bypass (CPB) in children under two years. METHODS: The clinical data of 100 children undergoing CoA repair were retrospectively reviewed between January 2010 and September 2021. Univariate and multivariate analyses were performed to identify factors of PBI development...

BACKGROUND: The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life. OBJECTIVE: The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects...

Neurological morbidity is common after pediatric stroke, with moderate to severe deficits that can significantly impact education and social function. Care and recovery occur in phases distinguished by the time interval after stroke onset. These phases include the hyperacute and acute periods in which the focus is on cerebral reperfusion and prevention of neurological deterioration, followed by the subacute and chronic phases in which the focus is on secondary stroke prevention and mitigation of disability through rehabilitation, adaptation, and reintegration into the community...