Journal of Child Neurology最新文献

This study seeks to develop fine motor development growth curves for children with Down syndrome, specifically related to grasping and visual motor integration skills. A cross-sectional retrospective chart review was completed on a large cohort of children with Down syndrome from birth to 6 years of age who completed the Peabody Developmental Motor Scales-2nd Edition (PDMS-2). Although both fine motor and visual motor development were delayed in children with Down syndrome compared with typically developing peers, and a negative association between fine motor quotient and age was observed, grasping and visual motor integration raw scores increased with age. The Down syndrome-specific percentile curves developed here may enable providers to identify individuals requiring further investigation, and will be useful in future studies of factors that may influence fine motor development in Down syndrome. These data will also help parents better understand their children's development and interpret developmental test results.

AimAmplitude-integrated electroencephalography (aEEG) is a method for continuous electrographic brain function monitoring. Despite evidence of aEEG relevancy in a range of clinical settings, its use has not yet been systematically tested in patients with chronic ventilation. We assessed the role of aEEG in the management of patients in a department of pediatric respiratory rehabilitation.MethodTwo hundred ninety aEEG readings from 116 patients over a period of 36 months were studied. aEEGs were performed on admission for all patients; 21 patients had repeated monitoring because of suspected seizures.ResultsMore than 92% of the patients had examinations that were feasible for interpretation. Seizures were noted in 29% of the aEEG readings at admission. A significant correlation was found between abnormal background activity and the presence of seizures. The aEEG obtained throughout hospitalization led to modification of treatment in 49% of patients including initiation of antiseizure medications in 20% of patients, avoidance of unnecessary treatment in 20% of patients, and transfer for advanced assessment in the primary hospital in 9% of patients.ConclusionThe results of this study reinforce the importance of using aEEG in chronically ventilated patients throughout rehabilitation. It is an important tool for accurate treatment and planning of the personal rehabilitation program.

ObjectiveDysautonomia in neuromuscular junction disorders is not frequently reported and is not widely recognized. It has been linked to thymoma and several novel antibodies. Yet, autonomic instability can be found even when these features are absent. In MuSK-related myasthenia gravis, clinical autonomic signs have been found in a significant percentage.CaseWe present a report of MuSK-related myasthenia gravis in a teen that presented with strong dysautonomic symptoms, most notably orthostatic intolerance prior to onset of neuromuscular symptoms. The patient experienced a severe disease course because of concurrent autonomic and myasthenic crises, requiring intensive treatment for recovery.DiscussionThe patient is unique in syncopal and autonomic burden prior to myasthenia gravis diagnosis. It is difficult to explain dysautonomia in MuSK. However, current evidence along with this case suggests yet unknown roles with broader systemic effect tied to the MuSK protein.

ObjectiveTo describe daily recreational screen time of 6-17-year-old children with and without autism and association of >2 hours screen time per day with the likelihood of meeting Centers for Disease Control and Prevention (CDC) recommendations of 1 hour/day physical activity, sleep 9-12 hours/night for ages 6-12 years, 8-10 hours/night for ages 13-17 years, and body mass index (BMI) <85%ile.MethodsSecondary analysis of 2020 National Survey of Children's Health. Children were divided into 2 groups: autism and neurotypical. Parents reported 6-17-year-old children's weekday recreational screen time, physical activity, sleep duration, weight, and height. Variables were dichotomized: screen time ≤2 hours / screen time >2 hours and met / did not meet each CDC recommendation. Descriptive statistics, χ², and logistic regression were used. Data were weighted and adjusted for complex sampling.ResultsAmong 1030 children with autism and 24 205 neurotypical children aged ≥6 years, 68.6% vs 56.5% respectively had >2 hours of daily screen time (P = .001). More 6-12-year-olds with autism viewed >2 hours screen time daily (62.9% vs 48.0%, P < .001), but adolescents in the 2 groups did not differ. Those with autism and >2 hours screen time/weekday less often met CDC daily physical activity recommendation (16.2% vs 29.8%, P = .004), but this relationship held only among adolescents (11.0% vs 27.8%, P = .009). Among those 6-12 years old, with autism, screen time >2 hours/day was associated with a lower percentage with BMI ≥85%ile (22.2% vs 43.9%, P = .035). The autism group had no significant differences in sleep duration. In contrast, screen time >2 hours/day is associated with not meeting any of the guidelines among neurotypical children.ConclusionThese findings may have implications for counseling on realistic screen time habits.

IntroductionInfantile epileptic spasms syndrome (IESS) is a group of severe encephalopathies during infancy. In recent years, the search for genetic causes has gained importance. This study aimed to describe the genetic causes of IESS in children <2 years of age with access to diagnostic studies.Materials and MethodsA case series study was conducted in 6 pediatric neurology centers in Peru. Medical record data of children <2 years of age diagnosed with IESS were assessed.ResultsFifty-five cases were included, with a median age at diagnosis of 6 months, predominantly male (58.12%, n = 32), and from Lima (52.73%, n = 31). The predominant etiologic category was genetic-structural (38.18%, n = 21), with tuberous sclerosis standing out, followed by structural-congenital (30.90%, n = 17), genetic (27.27%, n = 15), and metabolic (3.63%, n = 2). All presented mixed neurodevelopmental delay, most of them of severe grade (63.64%, n = 35). The predominant electroencephalographic pattern was hypsarrhythmia (67.27%, n = 37). Vigabatrin was the most frequently used control medication (54.55%, n = 30). A total of 58.18% (n = 32) progressed to some type of epilepsy, whereas 23.64% (n = 13) controlled spasms. Twenty-four variants in 21 different genes and 2 chromosomal alterations were found.ConclusionsGenetic etiology was common and diverse in IESS. The genetic-structural category was the most frequent, followed by the structural-congenital category. A wide range of genetic variants was found in one-third of the cases. Prompt genetic identification in IESS is recommended to optimize treatment and improve the prognosis.

Recurrent concussion (RC) studies, especially in young children, are limited and provide conflicting results. We studied 505 children sustaining concussions presenting to an outpatient concussion clinic over a 2-year period, ages 5-18, of which 207 were RCs. Recovery time was defined by days to return to play (RTP), return to learn (RTL), and headache recovery (HR). Recovery was not affected by age at first concussion. Neither loss of consciousness nor posttraumatic amnesia were more frequent in RC. The number of concussions was associated with prolonged HR, P = .03. Prolonged RTP (P = .002) and HR (P = .006) were associated with a longer duration of prior concussion recovery time. Prolonged RTL was associated with a shorter interval between concussions, P = .01. RC was associated with a higher number of total symptoms on initial presentation, endorsed affective symptomology, fatigue and headache, and a history of premorbid self-reported headaches and anxiety. HR was associated with a prior history of self-reported anxiety and depression in RC, whereas, in first concussions (FC) only anxiety was associated. Sleep disturbance on initial presentation was associated with HR in both groups. Although recovery from FC and those with RC exhibit broad variation, RC demonstrates differences in recovery, indicating a need for greater awareness of clinical recovery in this group. Definitions of full recovery from concussion are evolving. Further study of concussion recovery is needed, especially in children with RC.

We report a pediatric case of encephalomyeloradiculoneuropathy (EMRN) presenting with elevated lactate levels in cerebrospinal fluid (CSF) and magnetic resonance spectroscopy (MRS), indicating astrocytic metabolic dysfunction. A 7-year-old girl developed fever, headache, and altered consciousness, initially diagnosed as acute disseminated encephalomyelitis (ADEM). Brain and spinal magnetic resonance imaging revealed multifocal lesions in the cerebral white matter and cervical spinal cord. CSF lactate was markedly elevated (4.06 mmol/L), and MRS demonstrated a lactate peak (7.95 mM). Nerve conduction studies revealed absent F waves and decreased reflexes, indicating peripheral nerve involvement. Anti-lactosylceramide antibodies were detected. The patient showed limited response to corticosteroids and IVIG but improved after plasma exchange. Follow-up MRS confirmed lactate normalization. This case underscores the relevance of astrocytic inflammation in EMRN pathogenesis and utility of MRS in identifying astrocytic metabolic impairment. MRS may differentiate EMRN from ADEM, especially in atypical or treatment-refractory presentations, allowing earlier diagnosis and targeted therapeutic strategies.

BackgroundMeningitis remains a major cause of morbidity and mortality among children aged 0-14 years, especially in low- and middle-income countries, despite global advances in vaccines and health care.MethodsBased on Global Burden of Disease (GBD) 2021 data, we assessed meningitis-related prevalence, mortality, and disability-adjusted life years (DALYs) in children aged 0-14 across 204 countries from 1990 to 2021, stratified by age, sex, region, and Socio-demographic Index (SDI). Trends were evaluated using Estimated Annual Percentage Change.ResultsFrom 1990 to 2021, global prevalence, deaths, and DALYs declined by 52.0%, 69.2%, and 69.1%, respectively. The highest burden in 2021 was observed in Sub-Saharan Africa and South Asia. Disease burden showed wide geographic variation and was inversely correlated with SDI. Leading attributable risks included malnutrition and behavioral factors.ConclusionsAlthough meningitis burden has decreased globally, regional disparities persist. Sustained vaccination, health system strengthening, and targeted interventions in high-burden areas remain critical to reducing preventable childhood deaths and disabilities.

AimOur study aims to explore the relationship between anxiety, depressive symptoms, and family functioning about quality of life in children diagnosed with neurofibromatosis type 1.MethodsA total of 51 participants, including 24 children in the neurofibromatosis type 1 group and 27 age- and gender-matched controls, aged between 8 and 18 years, were included. A pediatric neurologist confirmed each neurofibromatosis type 1 diagnosis. A semi-structured clinical interview (KSADS-PL) and psychometric evaluation were performed by a unique child psychiatrist. A sociodemographic form and psychometric scales assessing family functioning, quality of life, and children's anxiety and depressive symptoms were administered.ResultsAttention-deficit hyperactivity disorder and/or specific learning disorder were identified in 12 cases (50.0%). Parent-reported psychosocial subscores and total quality of life scores were significantly lower in the neurofibromatosis type 1 group compared with controls. Affective involvement subscores in family functioning were significantly higher in the neurofibromatosis type 1 group than in controls. The total quality of life scores reported by both children and parents, along with parent-reported psychosocial quality of life subscores, showed a moderate positive correlation with age at neurofibromatosis type 1 diagnosis. In contrast to the control group, problem-solving subscores in family functioning in the neurofibromatosis type 1 group showed a moderate positive correlation with depression scores and a moderate negative correlation with child-reported psychosocial quality of life subscores. Additionally, in the neurofibromatosis type 1 group, general family functioning exhibited a moderate positive correlation with total anxiety scores and a moderate negative correlation with child-reported psychosocial quality of life subscores.ConclusionsAddressing family functioning and integrating psychosocial support into neurofibromatosis type 1 management may enhance adaptation, mental health, and long-term quality of life for affected children and their families.