Abstract Objective evaluation of etiology, clinical course and response to the treatment of status epilepticus (SE) in children, with particular investigation of superrefractory SE. Materials and ...methods The retrospective study included children with convulsive SE aged 0.2–18 years, treated from 1995 to 2011. Status epilepticus is defined as a continuous seizure or intermittent seizures without full recovery of consciousness between seizures for at least 30 min. Refractory SE is diagnosed if SE lasts for more than 60 min, while superrefractory SE if SE continues or recurs 24 h or more after the onset of an anesthesia therapy, including those cases that recur after reduction or withdrawal of an anesthesia. The etiology was summarized in five categories: idiopathic/cryptogenic, remote symptomatic, febrile SE, acute symptomatic and progressive encephalopathy. The patients were treated according to the same hospital protocol. Midazolam iv and diazepam rectally were given as the first line drugs, phenobarbital/phenytoin iv as the second line drugs. If they failed, third line drugs, midazolam and thiopental were given in continuous intravenous infusion. The medication was defined as effective if seizure clinically stopped within 20 min, without recurrence within the next 6 h. Midazolam was assessed as effective even if it failed as the first line, but was effective in intravenous infusion as the third line drug. Results The study consisted of 602 SE in 395 children. There were 305 (50.7%) refractory SE episodes, and 43 (7.1%) of superrefractory SE. Idiopathic/cryptogenic and febrile SE was the most common etiology in the first SE, while progressive encephalopathy and remote symptomatic was in recurrent and superrefractory SE. The most effective drugs were: midazolam (306/339) given in mean dose of 0.4 mg/kg (range 0.1–1.2 mg/kg), thiopental (47/57) in mean dose of 4 mg/kg (range 3–5 mg/kg), phenobarbital (91/135) in dose of 20 mg/kg. Midazolam successfully stopped 306/339 SE episodes (90.3%), 67 SE (21.9%) by equal or lower dose than 0.2 mg/kg as the first line drug, while all other 239 episodes (78.9%) were stopped by intravenous infusion in range 0.2–1.2 mg/kg/h (mean 0.4 mg/kg/h) as the third line drug. Adverse effects were frequent in superrefractory SE (60.5%). In 15 patients, corticosteroids contributed to the reduction of seizure recurrence after anesthetic withdrawal and cessation of epilepsia partialis continua. Case fatality rate was 5.1% in all patients, while 21.3% in patients with superrefractory SE. Conclusion Status epilepticus in children was characterized by heterogeneous etiology, prolonged duration and commonly good response to midazolam only given in high doses. Superrefractory SE was not so rare in children, especially among the patients with progressive encephalopathy.
Summary
Purpose: The aim of the study was to evaluate the outcome of status epilepticus (SE) in children and to define predictors for morbidity, mortality, and SE recurrence.
Methods: The study ...included 302 children (age 2 months to less than 18 years; mean age ± SD 4.7 ± 4.2 years) with 489 episodes of SE. Etiology, treatment, and clinical and electroencephalography (EEG) features of SE and their impact on the outcome were analyzed. The outcome was classified into three categories: unchanged neurologic status, neurologic consequences, and lethal outcome. Univariate and multivariate Cox hazard regression analyses were used to define predictors of mortality, morbidity, and SE recurrence.
Key Findings: Neurologic status was unchanged in 235 children (77.8%) and neurologic consequences occurred in 39 patients (12.9%); case‐fatality ratio was 9.3% and recurrence rate was 21%. Mortality was related to progressive encephalopathy, preexisting neurologic abnormalities, specific EEG findings, and generalized convulsive type of SE. Neurologic consequences were associated with younger age, progressive encephalopathy, duration of SE >24 h, prior epilepsy, and specific EEG findings. Multivariate analyses showed that etiology of SE and prior neurologic abnormalities were independent predictors of mortality, whereas younger age, etiology, and very long duration of SE were predictors of morbidity.
Significance: Outcome of SE in children is favorable in most of the cases, but mortality and morbidity rates are still high. Etiology and prior neurologic abnormalities were the main predictors of mortality, whereas the main predictor of morbidity was underlying etiology.
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 ...mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute to variability in clinical presentation, and several groups worldwide performed genotype-phenotype correlation studies using cohorts of patients with classic and atypical forms of Rett spectrum disorder. The Rett Networked Database is a unified registry of clinical and molecular data of Rett patients, and it is currently one of the largest Rett registries worldwide with several hundred records provided by Rett expert clinicians from 13 countries. Collected data revealed that the majority of MECP2-mutated patients present with the classic form, the majority of CDKL5-mutated patients with the early-onset seizure variant, and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the Rett Networked Database allows the grouping of patients presenting specific clinical and genetic characteristics for studies by the Rett community and beyond. These data will also serve for the development of clinical trials involving homogeneous groups of patients.
Summary
Objective
Evaluation of efficacy of vigabatrin as the first drug in infants with previously untreated infantile spasms (IS) and reporting the long‐term outcome.
Methods
We analyzed a cohort ...of 180 infants with infantile spasms treated with vigabatrin as the first drug. Following initial evaluation and a 48‐h basal period for counting the spasms, vigabatrin was administered using the same protocol in all. After 14 days all infants were assessed for therapeutic response (primary outcome). Psychomotor development was evaluated by a psychologist and neurologist prior to the initiation of treatment and during the follow‐up. Seizure outcomes were followed prospectively, by seizure types and epilepsy syndromes. Long‐term (secondary) outcomes included neurologic status, occurrence of late epilepsy, and developmental/cognitive status.
Results
Vigabatrin terminated the spasms in 101 patients (56.9%) at a mean period of 5 days. Patients with normal psychomotor development prior to the onset of spasms responded best. After follow‐up of 2.4 to 18.9 years (mean 10.64; standard deviation SD 4.40), 38.1% of responders, treated with vigabatrin, had severe neurologic dysfunction, 42% had epilepsy, and 42.2% had unfavorable intellectual outcome. The group with symptomatic etiology and abnormal neurologic status at presentation demonstrated a significantly worse prognosis and a more unfavorable outcome than cryptogenic or idiopathic cases (85.1% and 81.6% versus 14.9% and 0%‐p = 0.001). Idiopathic patients treated with vigabatrin were all intellectually normal, except the youngest patient who had borderline cognitive function.
Significance
The most important prognostic factors were the underlying etiology and preexisting developmental profile. Long‐term outcome in the patients treated with vigabatrin was similar to the outcome in patients treated with adrenocorticotropic hormone (ACTH) or corticosteroids, as reported in earlier studies. The long‐term prognosis of idiopathic cases treated with vigabatrin was favorable.
Paediatric patients with the syndrome of an inappropriate antidiuretic hormone secretion (SIADH), as a manifestation of inflammatory demyelinating disorders of the central nervous system, have been ...rarely described until now, in only a few cases of neuromyelitis optica spectrum disorders (NMOSDs). We present a case of relapsing SIADH associated with NMOSD, in an anti-aquaporin-4 antibody positive 14-year-old girl, who is, to our best knowledge, the first reported paediatric patient with relapsing SIADH and NMOSD. Additionally, our case further supports the notion that paediatric encephalomyelitis associated with SIADH should suggest the diagnosis of NMOSD.
Introduction:
Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in patients with RTT ...are scarce.
Goals:
The goals of this study were (1) to determine the prevalence of vitamin D deficiency in patients with RTT, (2) to compare serum vitamin D levels between patients with RTT and those with other neurological diseases, and (3) to explore the correlation between demographic and clinical characteristics of patients with RTT and vitamin D levels.
Methods:
Demographic and clinical characteristics included age, body mass index Z-score, mutation status, clinical severity score, presence of epilepsy, number of antiepileptic drugs, history of fractures, scoliosis, and ambulation ability. Laboratory parameters included serum 25-hydroxyvitamin D 25(OH)D, PTH, calcium, and alkaline phosphatase.
Results:
The study included 35 patients with RTT and 35 age-matched females with other neurological diseases. The median serum 25(OH)D concentration in the RTT group was 26.25 nmol/L, with values <75 nmol/L in all participants. Severe deficiency (<25 nmol/L) was detected in 17 of 35 (48.6%) patients. The median 25(OH)D concentration was significantly lower in patients with RTT than in control subjects. The risk for fracture by 12 years of age in patients with RTT was 35.3%. An inverse correlation of the 25(OH)D level to age and PTH level was detected. Patients receiving antiepileptic polytherapy had a 3.3 times greater chance for severe vitamin D deficiency than patients receiving monotherapy.
Conclusion:
The prevalence of vitamin D deficiency in patients with RTT is higher than that in patients with other neurological diseases. The high risk for vitamin D deficiency should be accounted for in the strategy of antiepileptic treatment in RTT, especially when polytherapy is considered.
Summary The objective of the study was to evaluate etiology, clinical characteristics and outcome in children with epilepsia partialis continua (EPC). The investigation included 51 children with EPC ...aged 0.2–18 years treated in the period 1993–2009. The median period from the onset of underlying disorder to EPC was 6 months (0–72 months). EPC was caused by different pathologies: inflammatory and immune-mediated (52%), metabolic (13.7%), structural brain abnormalities (11.8%), cryptogenic (7.8%), vascular (5.9%), dual (5.9%), postoperative (2%). Median duration of EPC was 15 days (1–200 days). EPC involved more frequently the right side of the body comparing to the left one. The outcome was assessed at the end of the follow up period (mean 6.5 years, ranged 0.2–16 years). Unchanged neurological status was observed in 10 (19.6%) children, neurological consequences in 33 (64.7%) children and lethal outcome in 8 (15.7%) children. The most frequent etiology in our cohort was inflammatory and immune-mediated disease of central nerve system including Rasmussen's encephalitis. The duration of EPC was prolonged, most frequently involving the right upper limb. The outcome of EPC in children was unfavorable.
Summary
Objective
Rett syndrome is an X‐linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand ...use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype–phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming.
Methods
Data from the Rett Syndrome Networked Database on 1,248 female patients were included. Data on phenotypic and genotypic parameters, age of onset, severity of epilepsy, and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software, logistic regression, and Kaplan‐Meier survival curves.
Results
Epilepsy was present in 68.1% of the patients, with uncontrolled seizures in 32.6% of the patients with epilepsy. Mean age of onset of epilepsy was 4.68 ± (standard deviation) 3.5 years. Younger age of onset was correlated to severity of epilepsy (Spearman correlation r = 0.668, p < 0.01). Patients with late truncating deletions had lower prevalence of epilepsy. Compared to them, the p.R133C mutation, associated with a milder Rett phenotype, increased the risk for epilepsy (odds ratio OR 2.46, confidence interval CI 95% 1.3–4.66), but not for severe epilepsy. The p.R255X mutation conferred an increased risk for epilepsy (OR 2.07, CI 95% 1.2–3.59) as well as for severe epilepsy (OR 3.4, CI 95% 1.6–7.3). The p.T158M and p.C306C mutations relatively increased the risk for severe epilepsy (OR 3.09 and 2.69, CI 95% 1.48–6.4 and 1.19–6.05, respectively), but not for epilepsy occurrence.
Significance
Various mutations in the MECP2 gene have a different influence on epilepsy, unrelated to the severity of the general Rett phenotype. This might suggest a site‐specific effect of MeCp2 on epileptic pathways. Further investigation of these mechanisms should promote better understanding of epileptogenesis in Rett syndrome.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females with an estimated incidence of 1:10,000-15,000 female births. Currently, there is no specific treatment that ...halts or reverses the progression of RTT. Therefore, management was mainly symptomatic, focussed on optimising patient's abilities. The aim of this study was to investigate factors influencing health-related quality of life (HRQoL) and depression in mothers who care for children with Rett syndrome (RTT) in Serbia.
The cross-sectional study was conducted on 49 mothers giving care to females with RTT. Caregivers" HRQoL was assessed by using the SF-36 questionnaire. Clinical severity score (CSS) of RTT patients and Beck Depression Inventory II (BDI -II) scale were used to quantify RTT severity and mothers' depression, respectively. Statistical assessment included descriptive statistics, t-test, Pearson correlation coefficient and multiple logistic regression.
The age of mothers ranged from 22 to 55 years and of their affected children from 3 to 29 years. Severe depression was observed in 15 (30.6%) participants. CSS and BDI-II scores correlated negatively with all SF-36 domains and composite scores. Lowest scoring domains of HRQoL in mothers giving care to RTT children were mental health, vitality and role functioning emotional. Multiple linear regression analysis revealed that severity of RTT patients' disability (CSS) and caregivers' age are factors with strongest influence to HRQoL and depression in care giving mothers.
Mothers giving care to children with RTT are at high risk of severe depression and lower HRQoL scores of domains that reflect mental well-being. Results of this study can help in planning subsequent interventions directed at families dealing with Rett syndrome.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
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