Journal of Child Neurology

No abstract text is available yet for this article.

Objectives: To explore the profile of children with cerebral palsy secondary to intrapartum asphyxia treated with therapeutic hypothermia after birth and to compare characteristics of children treated with therapeutic hypothermia with mild vs severe cerebral palsy outcome. Study Design: We identified all children treated with therapeutic hypothermia for intrapartum asphyxia in a single-center tertiary-level neonatal intensive care unit from 2008 to 2018 with a cerebral palsy outcome. We collected perinatal and outcome measures from patient charts...

BACKGROUND: Infantile epileptic spasms syndrome is an epileptic encephalopathy, characterized by spasms, hypsarrhythmia, and developmental regression. Appropriately selected patients with infantile epileptic spasms syndrome may be candidates for epilepsy surgery. METHODS: This is a single-center retrospective case series of children 0-18 years with a current or previous diagnosis of infantile epileptic spasms syndrome with a lesion on magnetic resonance imaging (MRI) and/or positron emission tomography scan who underwent epilepsy surgery at The Hospital for Sick Children (HSC) in Toronto, Canada...

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Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact of most bothersome symptoms, and needs that future treatment should address. One hundred participants completed the survey. Results from this survey demonstrate that the majority of Pelizaeus-Merzbacher disease symptoms manifest before 2 years of age and commonly include deficits in gross and fine motor skills, speech, and communication...

BACKGROUND: There is limited evidence on the use of facial nerve function grading scales in acute facial nerve paralysis in children. OBJECTIVE: To investigate the agreement between and the usability of the House-Brackmann and Sunnybrook scales in children with idiopathic facial paralysis (Bell's palsy) and to compare their ease of administration. METHODS: Data from a randomized controlled trial in children aged 6 months to <18 years with Bell's palsy was used...

The aim of this study was to describe the phenotype of Leber hereditary optic neuropathy occurring in pediatric females. This disease generally affects young adult males, but it can occur also in females, and research data in this population is lacking. The very early onset can challenge the diagnosis and delay treatment. We searched PubMed through February 2021 and identified 226 pediatric females with genetically confirmed Leber hereditary optic neuropathy and added a new case of a 3-year-old female. The male-female ratio was 1...

Neonatal hypoxic-ischemic encephalopathy is a clinical phenomenon that often results from perinatal asphyxia. To mitigate secondary neurologic injury, prompt initial assessment and diagnosis is needed to identify patients eligible for therapeutic hypothermia. However, occasionally neonates present with a clinical picture of hypoxic-ischemic encephalopathy without significant risk factors for perinatal asphyxia. We hypothesized that in patients with genetic abnormalities, the clinical manifestation of those abnormalities may overlap with hypoxic-ischemic encephalopathy criteria, potentially contributing to a causal misattribution...

Background and Objectives: Creatine kinase (CK) is a commonly used screening test for neuromuscular disorders (NMDs). However, hyperCKemia can result from several pathologic and physiologic causes. We analyzed neuromuscular disorders in noninfant children with hyperCKemia including those with no weakness and mild CK elevations (<5 times the upper limit of normal). We hypothesized that children with mild CK elevation and no weakness would be unlikely to have neuromuscular disorders and require additional evaluation...

Prenatal identification by magnetic resonance imaging (MRI) of callosal anomalies, particularly with accompanying intracranial abnormalities, poses a challenge for accurate prognostication and fetal counseling as outcome can vary widely depending on underlying etiology. In female patients, Aicardi syndrome is an important consideration, and prompt postnatal ophthalmologic assessment to identify ocular stigmata of Aicardi syndrome can aid with anticipatory guidance and greater vigilance for seizures. We present a case of a female with fetal and postnatal MRI findings of agenesis of corpus callosum and type 2b interhemispheric cysts, characteristically found in Aicardi syndrome, but was found to have oral-facial-digital syndrome type 1 (OFD1)...

Background: Subacute sclerosing panencephalitis is a progressive neurodegenerative disease that is a late complication of measles infection. However, to date, the pathogenesis of subacute sclerosing panencephalitis is still not explained; both viral and host factors seem to be associated. The present study aimed to investigate the relationship between NOD1 and NOD2 gene variants and subacute sclerosing panencephalitis. Methods: The gene variants of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) were explored in 64 subacute sclerosing panencephalitis patients and 70 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...

Background: To facilitate advances in spinal muscular atrophy therapeutic research, it is important to determine the impact and prevalence of symptoms experienced by children with spinal muscular atrophy. Methods: We conducted qualitative interviews with caregivers of children with spinal muscular atrophy. From these interviews, we generated a survey inquiring about 260 symptoms of importance grouped into 17 symptomatic themes. Results: Sixteen caregivers of children with spinal muscular atrophy aged from 4 months to 12 years participated in initial interviews, and 77 caregivers completed the survey...

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Purpose: The purpose of this article is to explore the clinical and neuroradiologic properties of atypical teratoid/rhabdoid tumors. Methods: Data from 6 pediatric patients with atypical teratoid/rhabdoid tumors, which mainly contained the features of magnetic resonance imaging (MRI) and positron emission tomography (PET)/computed tomography (CT), was retrospectively analyzed. Follow-up was conducted in all patients through clinic services and/or telephone consultation. Results: The patients included 4 males and 2 females, aged from 3...

Identifying the etiology of childhood arterial ischemic stroke helps prevent stroke recurrence. In addition, stroke may herald a serious underlying condition requiring treatment, such as acquired heart disease, malignancy, or autoimmune disorder. Evidence-based guidelines exist for adults to identify and treat common risk factors for primary and secondary stroke, including hypertension, diabetes, elevated lipids, atrial fibrillation, and sleep apnea, which are rarely relevant in children. However, guidelines do not exist in pediatrics...

We examined the association between the severity of acute concussion symptoms and time to return to school and to sports in adolescent student athletes. We hypothesized that there would be an association between the severity of acute symptoms experienced in the first 72 hours and functional recovery such that adolescents with the lowest burden of acute symptoms would have the fastest return to school and sports and those with the highest burden of symptoms would have the slowest return to school and sports...

BACKGROUND: Continuous spike wave in sleep (CSWS) is an electroencephalogram (EEG) pattern associated with developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This etiologically heterogeneous syndrome may occur because of genetic factors and congenital or acquired brain lesions. We studied the pattern of clinical presentation and underlying etiologies in patients with DEE-SWAS that respond to resective surgery. METHODS: We reviewed our clinical and research databases for patients who had resolution of CSWS following surgical resection of a focal lesion...

The development of lenticulostriate stroke following mild head trauma accounts for 3% of traumatic brain injuries in children. Nevertheless, the pathogenesis of infantile lenticulostriate stroke with lenticulostriate calcification is poorly understood. In this study, we explored the association of a recent viral infection with the development of infantile lenticulostriate stroke with lenticulostriate calcification following mild head trauma in children. We examined the records for 49 children (<36 months old) diagnosed with infantile stroke following mild head trauma at the First Hospital of Jilin University between January 2007 and August 2019...

Up to 30% of youth with concussion experience PPCSs (PPCS) lasting 4 weeks or longer, and can significantly impact quality of life. Magnetic resonance imaging (MRI) has the potential to increase understanding of causal mechanisms underlying PPCS. However, there are no clear modalities to assist in detecting PPCS. This scoping review aims to synthesize findings on utilization of MRI among children and youth with PPCS, and summarize progress and limitations. Thirty-six studies were included from 4907 identified papers...

Evaluations to rule out epileptic vs nonepileptic staring spells may entail unnecessary evaluations that can be costly and time consuming. Our study aims to identify common etiologies for staring spells across 3 different pediatric age groups and to propose an age-based clinical guidance to help determine which patients warrant further workup. Methods: This was a single-center retrospective chart analysis of 1496 patients aged 0.0-17.9 years presenting with confirmed staring spell diagnosis from January 2011 to January 2021...