The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

PURPOSE: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. MATERIALS AND METHODS: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. RESULTS: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. CONCLUSIONS: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP. Clinical trial registration: ClinicalTrials.gov Identifier: NCT03499288 (https://clinicaltrials.gov/ct2/show/NCT03499288). IMPLICATIONS FOR REHABILITATIONUse of the ESPGHAN recommendations and simple screening tools in daily practice is needed to improve nutritional care for individuals with CP.Attention should be paid to the differences in the perception of nutritional status of individuals with CP between professionals and caregivers to improve appropriate referral for nutritional support.Objective measures rather than the professional's perception need to be used to define the nutritional status of individuals with CP.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL. She exhibited a typical phenotype associated with LINCL, except she did not present spontaneous myoclonus, her symptoms occurrence was slower and developed focal sensory visual seizures. In addition, whole-exome sequencing identified a novel homozygous variant in CLN8, c.531G>T, resulting in p.Trp177Cys. Ultrastructural examination featured abundant lipofuscin deposits within mucosal cells, macrophages, and monocytes. We report a novel CLN8 mutation as a cause for NCL8 in a girl with developmental delay and epilepsy, cerebellar syndrome, visual loss, and progressive cognitive and motor regression. This case, together with an analysis of the available literature, emphasizes the existence of a continuous spectrum of CLN8-associated phenotypes rather than a sharp distinction between them.

Peri-ictal headaches in the paediatric population - prospective study.

INTRODUCTION: The co-occurrence of headache and epilepsy is well-documented in the adult population. The aim of the prospective study was to analyse in the paediatric population the correlations between the types of peri-ictal headaches and types of seizures. Furthermore, an attempt was made to find trends in characteristic features of peri-ictal headaches.Material: A total of 57 children with peri-ictal headache were enrolled in the study. The participants' guardians were asked to keep a diary of the seizure and peri-ictal headache episodes during a 180-day period. During follow-up visits, systematic history regarding peri-ictal headaches was taken. RESULTS: A total of 913 seizure and 325 peri-ictal headache episodes were noted during the study. Post-ictal headaches were most common, occurring in < 1 h after the seizure, lasting minutes to hours and more likely to occur after generalised seizures, whereas pre-ictal headaches occurred 30-240 min before the seizure. In the analysed group, peri-ictal headaches were most often moderate in intensity. Only 30% of patients took analgesic medication, usually to treat post-ictal headaches. CONCLUSION: Peri-ictal headaches are a significant health problem for patients with epilepsy. The most common type are post-ictal headaches, and they are most likely to appear after a generalised seizure.

Current treatment of convulsive status epilepticus - a therapeutic protocol and review.

The management of status epilepticus (SE) has changed in recent years. Substantial differences exist regarding the definition and time frame of a seizure, which has been operationally defined as lasting for 5 min. Not only have many new intravenous drugs, such as levetiracetam and lacosamide been introduced but other routes of administration, such as intranasal or buccal administration for midazolam, are also being developed. Optimal and successful therapy initiated at the appropriate moment, adequately tailored to the clinical state of the patient, determines the first step in the normalisation of vital functions and leads to the restoration of the physiological homeostatic mechanisms of the organism. The aim of this review is to present the current treatment options for the management of convulsive status epilepticus (CSE) that have been widely confirmed as the most effective in clinical trials and approved by the international neurology authorities as the actual therapeutic standards. We also intend to indicate distinct and unequivocal differentiation and therapeutic indications for each phase of CSE, including the precise doses of the related medications, to present practical guidelines for clinicians. The treatment of patients with CSE requires emergency physicians, neurologists and specialists in intensive care to work together to provide optimal care that should be initiated as soon as possible and conducted as a unified procedure to improve neurocritical care in patients who are transferred from the ambulance service, through the emergency department and finally to the neurology department or ICU. Appropriate treatment also involves avoiding mistakes associated with inadequate doses of medications, overdosing a patient or choosing an inappropriate medication.

Anemia secondary to valproic acid therapy in a 13-year-old boy: a case report.

INTRODUCTION: Valproic acid is a commonly used anti-epileptic drug. Hematological toxicities are among the occasionally observed adverse effects of this medication. CASE PRESENTATION: We present the case of a 13-year-old Caucasian boy who demonstrated mild anemia 12 months after the introduction of valproic acid therapy. A bone marrow biopsy revealed maturation arrest of proerythroblasts. CONCLUSION: Prompt diagnosis and valproic acid discontinuation resulted in the patient's recovery.

Long-term efficacy of valproate versus lamotrigine in treatment of idiopathic generalized epilepsies in children and adolescents.

PURPOSE: In order to estimate and compare the long-term effectiveness of lamotrigine (LTG) versus valproate (VPA) monotherapy in treatment of newly diagnosed idiopathic generalized epilepsies (IGE) the following study was performed. METHODS: Medical records of 214 children and adolescents suffering from IGE were analyzed. 132 of them were on VPA monotherapy, 82 on LTG. The majority of patients had juvenile myoclonic epilepsy - 98, the rest: juvenile absence epilepsy - 32, childhood absence epilepsy - 53 and epilepsy with a tonic-clonic seizures on awakening - 12, others - 19. Mean age of the patients was 8.9 years (range 4-16 years). The mean time of treatment was 28 months, time of observation 40 months. In order to estimate retention rates and factors predicting successful treatment with LTG and VPA we used Kapplan-Meyer analysis and Gehan tests. RESULTS: Data analysis showed significantly longer retention rates with VPA versus LTG treatment in overall rates as well in all syndromes subgroups. After 12 months of therapy 69% stayed on LTG therapy versus 89% on VPA, after 24 months 57% versus 83% respectively. VPA showed comparable efficacy in all IGE syndromes where LTG showed better efficacy in childhood and juvenile absence epilepsy than in juvenile myoclonic epilepsy. The shorter duration of treatment with LTG was due to lack of efficacy. CONCLUSIONS: Our results show the superiority of VPA versus LTG treatment in idiopathic generalized epilepsy syndromes.

[Vitamin B12 deficiency in a one-year-old, exclusively breast fed child]. / Niedobór witaminy B12 u rocznego dziecka karmionego wylacznie piersia.

UNLABELLED: Vitamin B12 deficiency is a rare condition in children. The most frequent cause is vegetarian diet. In infants it can happen in breast fed children whose mother is on this diet. The clinical feature of the disease presents with megaloblastic anemia and symptoms such as: weakness, refusing to eat, hypotonia, paraesthesia, delayed or regressed development. We present a case report of vitamin B12 deficiency in a one-year-old, exclusively breast fed child. The mother's diet during pregnancy and breast-feeding were normal. CONCLUSIONS: The quality of the mother's diet and her haematological status during pregnancy and breast-feeding should be carefully monitored. It is necessary to introduce a variety of foods to expand the infant's diet at the proper time. The diagnosis of anaemia in the mother and/or in the child requires a careful investigation.

Correlation of neuroradiological, electroencephalographic and clinical findings in cortical dysplasias in children.

INTRODUCTION: Cortical dysplasias (CD) are defined as malformations of cortical development. They result from impairment of neuronal proliferation, migration and differentiation. CD are common pathological substrates in patients with early-onset childhood epilepsy and/or developmental delay as well as neurological signs. Recognition of the importance of cortical dysplasias has been shown in many studies when introducing structural MRI. The following study was performed in order to correlate the neuroimaging findings with the electroencephalographic and clinical picture of children with cortical dysplasias. MATERIALS AND METHODS: 46 patients with the presence of CD features in MRI were identified. There were 18 female and 28 male patients. The age ranged from 3 months to 12 years (mean age = 6.2, median age = 3.1). The objectives of the study were explained to the parents or legal representatives of children when possible and also informed consent was obtained. Multiple EEG recordings as well as detailed clinical analysis of all patients were performed. Statistical analysis was conducted in order to correlate the type of CD with clinical outcome and electrophysiological findings. RESULTS: There were 31 patients with focal dysplasias, 6 with schizencephaly, 4 with heterotopias, 3 lissencephaly and 2 with band heterotopia. 80% presented epilepsy (60% of them drug-resistant). Additionally, we tried to elucidate the clinical characteristics of epilepsy. In 75% of epilepsy patients the electroencephalographic changes correlated with anatomical localization of CD. 74% of patients were mentally retarded and 30% had focal neurological deficits. CONCLUSIONS: There were no correlations between the type of CD and the severity of the clinical picture, especially the level of mental retardation and presence of drug-resistant epilepsy. Different age at epilepsy onset and various responsiveness to antiepileptic drugs in the majority of patients may reflect different dynamics in epileptogenicity of the underlying CD.