BACKGROUND: Although most children and adolescents with a mild traumatic brain injury recover quickly, a significant minority develop intractable headaches, cognitive difficulties, and/or mood disturbances known as persi...BACKGROUND: Although most children and adolescents with a mild traumatic brain injury recover quickly, a significant minority develop intractable headaches, cognitive difficulties, and/or mood disturbances known as persistent postconcussion symptoms (PPCS). Repetitive transcranial magnetic stimulation (rTMS) offers significant therapeutic potential in PPCS. METHODS: Fourteen adolescents (15.6 ± 1.5 years, 10 females) with PPCS ≥3 months postinjury (median: 4, 3-16 months) were recruited into an open label, single centre, safety/feasibility rTMS trial. Four weeks of once daily rTMS (20 visits, 10 Hz at 120% of resting motor threshold, 3000 stimulations per session) was applied to the left dorsolateral prefrontal cortex. Adverse events were monitored at every treatment. Additional outcomes included the Post-Concussion Symptom Inventory (PCSI) and Pediatric Quality of Life Inventory (PedsQL). RESULTS: No serious adverse events were observed. Headaches were the most frequent adverse event; but headaches tended to decrease in frequency over the treatment course. Twelve out of 14 participants attended 90% or more of the rTMS sessions. After 4 weeks of rTMS, PCSI total scores decreased from pre-rTMS values by 27.5 ± 20.9 points (Z = -3.3, P < 0.001) and PedsQL total scores increased by 12 ± 12.6 points (t = -3.5, P = 0.004). One-month post-rTMS, PedsQL scores were still increased but PCSI scores were not different from baseline. CONCLUSIONS: High frequency rTMS to the left dorsolateral prefrontal cortex is safe/feasible for adolescents with PPCS. Results provide data to inform large randomized, sham-controlled trials to explore the efficacy of rTMS to treat pediatric PPCS.
Joy N, Soslow J, Burnette WB
… +16 more, Liu A, Guo CC, Pilkar R, Slaughter JC, Xu M, Crum K, Su K, Spurney C, Husain N, Gambetta K, Soriano BD, Raucci FJ, Hor K, Markham LW, Tamaroff J, DMDCCC Investigators
Pediatr Neurol
· 2026 Feb · PMID 41401666
·
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BACKGROUND: The six-minute walk test and quantitative muscle testing (QMT) are commonly used skeletal muscle assessments in Duchenne muscular dystrophy; however, they present challenges in nonambulatory patients. Our obj...BACKGROUND: The six-minute walk test and quantitative muscle testing (QMT) are commonly used skeletal muscle assessments in Duchenne muscular dystrophy; however, they present challenges in nonambulatory patients. Our objective was to evaluate whether 6-min activity-95 centile, a novel accelerometry metric capturing a participant's greatest amount of movement in six consecutive minutes, distinguished between ambulatory and nonambulatory individuals and correlated with QMT data. METHODS: Participants (N = 139) in an observational, longitudinal natural history study with median age of 12.0 years [interquartile range 10.0, 15.0] completed muscle testing and were instructed to wear an accelerometer on dominant wrist for 7 days and nights (a "wear") at each of three annual study visits. One hundred two male participants were analyzed with a total of 184 valid wear periods. RESULTS: Six-minute activity centiles declined over 2 years (n = 28, P < 0.001). No significant declines in centiles were detected immediately following loss of ambulation (n = 11). Significant correlations were observed between 6-min activity centiles and indexed QMT, with strongest at 95 centile (r = 0.647, P < 0.001). There was a relationship between 6-min centiles and time since loss of ambulation. CONCLUSIONS: Ambulatory and nonambulatory patients with Duchenne muscular dystrophy were differentiated by 6-min activity and declined over time, modeling progression of skeletal myopathy. Six-minute activity-95 centile has potential for future use as an effort-independent outcome of skeletal muscle progression and functional decline for both ambulatory and nonambulatory individuals.
This article explores the manifestations, radiological findings, associated diseases, treatment, and outcomes in pediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (C....This article explores the manifestations, radiological findings, associated diseases, treatment, and outcomes in pediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (C.L.I.P.P.E.R.S.). It was inspired by an 11-year-old male who presented with headache, ataxia, nystagmus, persistent vomiting, nausea, and constipation. He was diagnosed with C.L.I.P.P.E.R.S. based on clinical and radiologic findings, and positive response to treatment. The ensuing literature review led us to conclude that pediatric C.L.I.P.P.E.R.S. has a clinical presentation, etiology, evolution, course and prognosis different from adult cases. Future pediatric workup should include genetic studies because of commonly associated mutations such as PRF1. Treatment in pediatric cases should account for a delayed response to steroids, frequent recurrences, and especially in genetic cases, definitive treatment may require hematopoietic stem cell transplant. It seems that C.L.I.P.P.E.R.S. is not an isolated disease, rather a syndrome with unique radiologic findings, a wide range of etiologies, and clinical and neurologic manifestations that distinguish pediatric from adult cases. In order to optimize treatment and follow-up, future diagnostic approaches of C.L.I.P.P.E.R.S. in children should include workup for a primary disease such as EBV B cell lymphoma or hemophagocytic lymphohistiocytosis.
BACKGROUND: Pediatric-onset multiple sclerosis (POMS) is a chronic, immune-mediated disease of the central nervous system that accounts for up to 10% of all multiple sclerosis cases. Compared to adult-onset multiple scle...BACKGROUND: Pediatric-onset multiple sclerosis (POMS) is a chronic, immune-mediated disease of the central nervous system that accounts for up to 10% of all multiple sclerosis cases. Compared to adult-onset multiple sclerosis, POMS follows a more aggressive course with frequent relapses and earlier disability milestones. A structured transition-to-adult care is critical for maintaining long-term health. While transition-to-adult care has been studied in children with other chronic conditions, there are few transition studies in POMS, leaving youth with POMS vulnerable to poor outcomes. This scoping review aims to synthesize the existing literature on transition-to-adult care in POMS within the broader context of chronic pediatric illness and identify gaps to guide future research. METHODS: We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses-guided scoping review in February 2025 across PubMed, Scopus, Ovid Medline, Web of Science, and Embase databases, using English-language filters. Two independent reviewers screened each record at the title/abstract and full-text stages. RESULTS: Of 96 articles meeting inclusion criteria, 12 specifically addressed POMS. A range of strategies for transition-to-adult care have been studied in other chronic pediatric conditions, but findings are limited by inconsistent definitions and lack of standardized outcome measures. The POMS-specific literature reveals specific barriers, such as cognitive impairment, fluctuating symptoms, and psychosocial complexity. As a whole, there is limited evidence on the efficacy of targeted interventions to support successful transition-to-adult care. CONCLUSIONS: The evidence for beneficial interventions and strategies in transition-to-adult care in POMS is limited in quantity and scope. Targeted research is needed to develop and evaluate tailored strategies informed by general care plan frameworks and disease-specific needs.
BACKGROUND: Electrophysiological subtypes of Guillain-Barré Syndrome (GBS) vary in pathophysiology and clinical presentation, but comparative data on their intensive care needs in critically ill children remain limited....BACKGROUND: Electrophysiological subtypes of Guillain-Barré Syndrome (GBS) vary in pathophysiology and clinical presentation, but comparative data on their intensive care needs in critically ill children remain limited. METHODS: In this retrospective cohort study, we analyzed 224 children (1 month to 12 years) diagnosed with GBS and admitted to the Pediatric Intensive Care Unit of a tertiary care hospital in North India from January 2010 to December 2022. GBS was subtyped based on nerve conduction studies into acute motor axonal neuropathy (AMAN), acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor-sensory axonal neuropathy (AMSAN), inexcitable, or equivocal patterns. Clinical features, intensive care interventions, and outcomes were compared across subtypes. RESULTS: AMAN was the most common subtype (61.6%), followed by AIDP (20.1%) and AMSAN (8%). A prodromal illness was reported in 47.3% of cases. Mechanical ventilation was required in 54.9%, and tracheostomy in 24.2% of children. AMSAN was associated with a significantly longer duration of symptoms at presentation (P = 0.006). Autonomic instability, particularly hypertension (P = 0.04), was significantly more frequent in the AIDP group. However, Hughes disability scores, respiratory and cranial nerve involvement, and intensive care needs were similar across subtypes. CONCLUSIONS: AMAN was the predominant GBS subtype in critically ill children. While AMSAN was associated with delayed presentation and AIDP with greater autonomic dysfunction, overall intensive care needs and short-term outcomes were comparable across subtypes.
Elbaz N, Biran V, Ghozland C
… +10 more, Devisscher L, Gonzalez Carpinteiro A, Bourmaud A, Elmaleh-Bergès M, Hertz-Pannier L, Leprince Y, Frérot A, Héneau A, Dubois J, Alison M
BACKGROUND: Being born very or extreme preterm is a major source of cerebral anomalies and neurodevelopmental disorders, whose occurrence depends on many perinatal factors. A better understanding of these factors could b...BACKGROUND: Being born very or extreme preterm is a major source of cerebral anomalies and neurodevelopmental disorders, whose occurrence depends on many perinatal factors. A better understanding of these factors could be provided by cerebral magnetic resonance imaging (MRI) at term-equivalent age (TEA). OBJECTIVE: To investigate, through cerebral TEA-MRIs, the relationship between the main perinatal factors, the occurrence of cerebral anomalies, and cerebral volumetry. METHODS: We assembled a cohort of preterm babies born before 32 weeks of gestation who underwent a cerebral TEA-MRI. We assessed cerebral anomalies using a radiological scoring system - the Kidokoro scoring - and performed cerebral volumetry. We investigated the relationships between 9 clinical factors (birth characteristics, resuscitation treatments…), Kidokoro scores, and brain volumes. RESULTS: Among 110 preterms who underwent a cerebral MRI at TEA, only 6% suffered moderate-to-severe brain anomalies. We identified mechanical ventilation as a risk factor for cerebral anomalies (adjusted odds ratio = 4.6, 95% confidence interval [1.7-12.8]) and prolonged parenteral nutrition as a protective factor for white matter anomalies (adjusted odds ratio = 0.2, 95% confidence interval [0.1-0.8]). Mechanical ventilation (P = 0.01) and being born small for gestational age (P < 0.001) were risk factors for the reduction of cerebral volumes. An increase in brain lesion severity was associated with decreased cerebral volumes (P = 0.016). CONCLUSIONS: Our study highlights the importance of treatment-related perinatal factors on the occurrence of cerebral anomalies in very and extreme preterms, and the interest in using both qualitative (Kidokoro scoring) and quantitative (volumetry) MRI-tools.
BACKGROUND: To characterize the presentation and management of tactile hallucinations in pediatric and young adult patients with narcolepsy and explore the relationship between fragmented sleep, pharmacologic therapy, an...BACKGROUND: To characterize the presentation and management of tactile hallucinations in pediatric and young adult patients with narcolepsy and explore the relationship between fragmented sleep, pharmacologic therapy, and psychiatric comorbidities. METHODS: We describe four cases (ages 9, 11, 26, and 42 years) of persistent and distressing tactile hallucinations out of 55 narcolepsy patients seen at our institution. We reviewed clinical presentation, polysomnography, multiple sleep latency tests, neuroimaging, and therapeutic responses. RESULTS: All patients exhibited excessive daytime sleepiness, and three had cataplexy. Cerebrospinal fluid orexin was low-normal in one patient. Polysomnography and multiple sleep latency tests supported the diagnosis of narcolepsy in all cases. All patients had tactile hallucinations characterized by formication and paresthesias and often exacerbated by oxybate therapy. Fragmented nocturnal sleep was common and was associated with increased hallucination severity. In one case, hallucinations contributed to suicidal ideation requiring inpatient care. Hallucinations persisted despite pharmacological adjustments, although behavioral adaptations (e.g., wearing loose clothing) and psychotherapy helped one patient. Literature review links fragmented sleep to heightened hallucinatory experiences, especially tactile forms. Oxybates, while effective for cataplexy, visual hallucinations, and daytime sleepiness, may potentiate psychotic symptoms, including tactile hallucinations. CONCLUSIONS: Tactile hallucinations in narcolepsy may represent an under-recognized and distressing symptom. Fragmented sleep, rapid eye movement dysregulation, and pharmacologic side effects contribute to their emergence. Management requires a multidisciplinary approach integrating sleep medicine and psychiatry. Clinicians should consider hallucination profiles when titrating oxybates and explore adjunctive therapies for symptomatic relief.
BACKGROUND: To evaluate the efficacy and safety of intravenous zoledronic acid (ZA) in improving bone mineral density (BMD) and reducing bone turnover in boys with Duchenne muscular dystrophy (DMD) from North India. METH...BACKGROUND: To evaluate the efficacy and safety of intravenous zoledronic acid (ZA) in improving bone mineral density (BMD) and reducing bone turnover in boys with Duchenne muscular dystrophy (DMD) from North India. METHODS: In this prospective study, boys aged 5-18 years with genetically confirmed diagnosis of DMD, and either a history of low-impact long-bone or vertebral compression fractures (VCFs), or a lumbar spine/right femur neck dual-energy x-ray absorptiometry (DXA) BMD ≤ -2 z-score for age were enrolled. ZA was administered in three doses (total 0.125 mg/kg/year) at 3-month intervals. Outcomes assessed at 12 ± 2 months included changes in lumbar spine and femur neck BMD z-scores, VCFs number and grade, serum C-terminal telopeptide of type 1 collagen (CTX) levels, back pain, functional status, and quality of life. RESULTS: Fifty-five boys (mean age 10.7 ± 2.4 years) were enrolled. Seven boys (13%) had 8 long-bone fractures, and 33 (60%) had 86 VCFs on spine radiographs. Lumbar spine BMD z-score improved by 0.67 (95% confidence interval: 0.42-0.91; P = 0.001), and femur neck z-score by 0.49 (95% confidence interval: 0.06-0.93; P < 0.001). VCFs prevalence remained unchanged, though 26.7% developed new grade 1 VCFs. Mean serum CTX levels decreased from 0.488 to 0.179 ng/mL post ZA therapy (P < 0.001). ZA was well tolerated with no serious adverse events. Functional status and quality-of-life scores remained stable. CONCLUSIONS: Intravenous ZA significantly improved BMD and reduced bone turnover in boys with DMD without major adverse effects.
BACKGROUND: To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age. METHODS: A prospecti...BACKGROUND: To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age. METHODS: A prospective observational multicenter study was conducted in 6 hospitals in Spain. Sixty-four consecutive infants with idiopathic and symptomatic NAIS were recruited. Lesion masks were created to determine NAIS volume and location. Data on acute-phase symptoms, including seizure occurrence and anticonvulsant drugs used and functional outcomes at 2 years, including need for speech therapy, were collected. Dichotomous categorical variables were compared between males and females using chi-square or logistic regression tests, while differences in continuous variables were assessed by means of t-tests. Analysis of covariance or logistic regression was performed to adjust for infarct volume. RESULTS: Male infants presented a higher prevalence of NAIS compared to females (61% vs 39%). In addition, males showed larger infarct volumes and a differential pattern in the spatial distribution of lesions (P < 0.05). The male group also presented higher rates of postnatal epilepsy (41% vs 12%; P = 0.019), need for speech therapy (58% vs 24%; P = 0.010), and strabismus at 2 years of age (18% vs 0%). CONCLUSIONS: Our results point to larger infarct volumes and a worse outcome in males affected by NAIS. These results, together with further studies on the differential effects associated with sex in the context of NAIS, may shape new sex-specific neuroprotective strategies and follow-up plans.
BACKGROUND: Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalogr...BACKGROUND: Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalography (EEG) and magnetic resonance imaging (MRI) can be used to precisely assess brain function and structure in preterm infants. This systematic review assessed the prognostic capacity of EEG and MRI alone, and in combination, for the prediction of neurodevelopmental outcomes in preterm-born infants. METHODS: PubMed, Embase, Web of Science, and Cochrane databases were searched from inception until April 22, 2025. Studies were included if they examined the use of both MRI and EEG in preterm-born infants to predict neurodevelopmental outcomes. RESULTS: From 1669 records screened, 12 studies reporting 1630 infants were included in the systematic review. Of these 12, seven were sufficiently homogenous for quantitative meta-analysis, yielding pooled sensitivity and specificity values across 952 infants: EEG prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% confidence interval [CI] 48-80%) and specificity 70% (95% CI 59-81%); MRI prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% CI 48-80%) and specificity 89% (95% CI 81-97%). Three of these seven studies, reporting 372 infants, were sufficiently comparable to meta-analyze the combination of EEG and MRI, which predicted neurodevelopmental outcome with sensitivity 70% (95% CI 49-90%) and specificity 96% (95% CI 93-100%). CONCLUSIONS: The combined use of EEG and MRI can predict abnormal neurodevelopment in preterm-born infants with high sensitivity and specificity and was superior to either test in isolation; however, data are limited as multimodal neurological-assessment is still an emerging practice in neonates.
BACKGROUND: Sleep disorders are a common issue in children with pediatric insomnia, an under-recognized and undertreated problem affecting children. Beyond melatonin and behavioral interventions, there are few options kn...BACKGROUND: Sleep disorders are a common issue in children with pediatric insomnia, an under-recognized and undertreated problem affecting children. Beyond melatonin and behavioral interventions, there are few options known to clinicians that have been studied for use in pediatric insomnia. The objective of this study is to assess the efficacy, tolerability, and safety of doxepin and mirtazapine in pediatric insomnia. METHODS: This is a retrospective single-center chart review of children less than 18 years of age at the time of treatment initiation who have previously failed behavioral intervention and melatonin, who were then treated with doxepin and/or mirtazapine. Patients were started on doxepin maintenance treatments ranging from 2 to 10 mg and/or mirtazapine, which ranged from 1.875 to 15 mg. Improvement in sleep was assessed on follow-up visits and recorded using a 4-point Likert scale. RESULTS: There were 318 pediatric patients included for analysis. We identified 183 patients on doxepin, 24 patients on mirtazapine, and 19 patients who were on dual doxepin-mirtazapine. In the doxepin group, 167 patients (91.26%) experienced improvement in insomnia symptoms. In the mirtazapine group, 16 patients (66.67%) experienced improvement in insomnia symptoms. In the doxepin-mirtazapine group, 13 patients (68.42%) experienced improvement in insomnia symptoms. Thirty-two patients (10%) and three patients (7%) who took doxepin and mirtazapine, respectively, experienced adverse effects, most commonly aggression/irritability. CONCLUSIONS: We found both doxepin and mirtazapine as effective and tolerable treatments options in improving subjective sleep onset and maintenance issues in children with insomnia.
BACKGROUND: Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune condition which can be diagnosed either based on a constellation of neurological symptoms and/or a positive anti-aquaporin 4 antibody. About 3-5...BACKGROUND: Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune condition which can be diagnosed either based on a constellation of neurological symptoms and/or a positive anti-aquaporin 4 antibody. About 3-5% of all cases occur in pediatric patients, and currently there are no FDA-approved therapies for patients under the age of 18 years for NMOSD. There are currently 4 FDA-approved medications for adults with seropositive NMOSD-eculizumab, inebilizumab, satralizumab, and ravulizumab. METHODS/RESULTS: Herein, we present a case series of four patients who have seropositive NMOSD and are on inebilizumab. All four patients have had two courses of this medication and have tolerated it well. There was not a significant burden of side effects, and none of the patients have presented with relapses. CONCLUSIONS: This study adds to the literature because it shows that in our cohort inebilizumab was a safe medication for pediatric patients with NMOSD and prevented further relapses.
BACKGROUND: Independent evaluation of overnight polysomnography and autonomic function in primary monosymptomatic nocturnal enuresis (PMNE) have produced variable results. The objective of this study was to simultaneousl...BACKGROUND: Independent evaluation of overnight polysomnography and autonomic function in primary monosymptomatic nocturnal enuresis (PMNE) have produced variable results. The objective of this study was to simultaneously evaluate both to improve pathophysiological understanding with consequent therapeutic implications. METHODS: Five- to eighteen-year-olds with PMNE, presenting to a North Indian tertiary care teaching hospital (exclusion criteria: chronic systemic illness, intelligence quotient<70, and treated for PMNE in the last 6 months) were enrolled. Overnight polysomnography and autonomic function testing were preceded by Childhood and Adolescent Sleep Evaluation Questionnaire, Childhood behavior Checklist, and projective personality testing evaluations. Subsequently, they received standard behavioral therapy for 12 weeks. RESULTS: Twenty-one cases were enrolled (10.6 ± 3.2 years, 16 boys). Impaired behavior was seen in 47.6% (majority inattention) and family/academics/self-esteem-related stressors were present in 42.9%. Sleep-related breathing disorder and sleep-related movement disorder (SRMD) were reported in 71.4% (15/21) and 61.9% (13/21), respectively. Cases had significantly lower sleep efficiency (72.3 ± 10.9% vs 80.6 ± 9.1%), higher proportion of N2 (76.4 ± 2% vs 63.1 ± 2.8%), and lower proportion of N3 (16.3 ± 1.7% vs 28.2 ± 1.5%) compared to controls. The diurnal median low frequency/high frequency variability was minimal (one [interquartile range (IQR):0.8-1.9] in sleep and 1.4 [IQR:0.5-2] while awake, P = 0.4). Median root mean square of successive differences was higher in sleep than awake state (81.04 ms [IQR:56.4-189.4] vs 60.6 ms ([QR:46-194.5], P = 0.5). One third responded favorably to standard behavioral therapy. Presence of other primary sleep disorders, particularly SRMD was significantly associated with poor response. CONCLUSIONS: A dopamine depletion state with therapeutic implications can be speculated in PMNE, in those with impaired sleep and SRMD along with loss of diurnal sympathetic variation.
Clements ME, Briscoe C, Curcio AM
… +20 more, Douglass LM, Kassiri J, Liu LC, Mathias SV, Moore-Hill DT, Nalluri D, Nath A, Romeu AM, Syed T, Vinarsky V, Wiener S, Yang QJ, Betstadt SJ, Harrison EI, Kulkarni N, Puntambekar P, Samanta D, Singla L, Voinescu PE, Kirkpatrick L
Pediatr Neurol
· 2026 Feb · PMID 41297128
·
Full text
Epilepsy in the Child-Bearing Ages through Menopause is an international consortium of clinicians dedicated to improving the health of women with epilepsy across the lifespan. Epilepsy in the Child-Bearing Ages through M...Epilepsy in the Child-Bearing Ages through Menopause is an international consortium of clinicians dedicated to improving the health of women with epilepsy across the lifespan. Epilepsy in the Child-Bearing Ages through Menopause's Adolescent and Young Adult Committee addresses quality of care for female youth with epilepsy. The Committee developed a literature review and expert opinion guidance for child neurologists on performing optimal counseling about epilepsy and reproductive health for female youth with epilepsy. To do so, we identified and voted on key topics essential for this counseling, then conducted comprehensive literature reviews for each topic, iteratively developed key statements about counseling content and style for each topic and voted on final content for inclusion. The included topics were teratogenesis, folic acid supplementation, pregnancy and fertility, contraception, heritability of epilepsy, menstrual and hormonal disorders, catamenial epilepsy, and taking a sexual history. This review provides a clear, novel framework for pediatric neurologists to counsel adolescent and young adult women with epilepsy about their reproductive health, supporting improvement in practices recommended by professional organization such as the American Academy of Neurology and Child Neurology Foundation.