Pulsatile corticoid therapy reduces interictal epileptic activity burden in children with genetic drug-resistant epilepsy.

Objective: Corticosteroids and adrenocorticotropic hormone (ACTH) are the therapy of choice to treat infantile spasms. However, systematic studies about their use in other types of childhood epilepsies remain rare and ACTH can have serious side effects. This study compares the interictal epileptic activity (IEA) burden (% of electroencephalography (EEG) time with IEDs) in children with genetic drug-resistant epilepsy before and after a standardized treatment with pulsatile corticoid therapy (PCT).

Primary Headache Is Related to Reduced Health-Related Quality of Life in Children with Epilepsy.

Headache is a frequent comorbidity in patients with epilepsy. Data are sparse regarding the distribution of headache types in children with epilepsy (CWE). We aimed to assess the prevalence of primary headache types and their influence on health-related quality of life (QoL) in CWE.

Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis.

Background: Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes.

Objective: To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC.

Material And Methods: Children presenting with symptoms suggestive of AC defined as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI.

Primary headache types in adult epilepsy patients.

Background: Headache is among the most common comorbidities in epilepsy. This study examined the distribution of different primary headache disorders in a large cohort of patients with diagnosed epilepsy. Headache types were analysed with regard to gender, type of epilepsy and antiepileptic drugs (AEDs).

Serum neurofilament light-chain levels in children with monophasic myelin oligodendrocyte glycoprotein-associated disease, multiple sclerosis, and other acquired demyelinating syndrome.

Objective: To assess the diagnostic and prognostic potential of serum neurofilament light chain (sNfL) in children with first acquired demyelinating syndrome (ADS).

Methods: We selected 129 children with first ADS including 19 children with myelin oligodendrocyte glycoprotein (MOG)-antibody associated disease (MOGAD), 36 MOG/AQP4-seronegative ADS, and 74 with multiple sclerosis (MS) from the BIOMARKER study cohort. All children had a complete set of clinical, radiological, laboratory data and serum for NfL measurement using a highly sensitive digital ELISA (SIMOA).

Monitoring Glucose Concentrations in Children with Epilepsy on a Ketogenic Diet.

Ketogenic diet (KD) and pulsatile dexamethasone therapy (PDT) are commonly used in the treatment of children with drug resistant epilepsy. Potential side effects of the KD are hypoglycemia, whereas PDT might lead to hyperglycemia. One practical option to measure glucose concentrations regularly is the flash glucose monitoring system (FGM).

Assessment of Sleep-Related Problems in Children with Cerebral Palsy Using the SNAKE Sleep Questionnaire.

Cerebral palsy (CP) represents the most common motor impairment in childhood. The presence of sleep problems has not yet been investigated with an instrument specifically designed for this population. In this hospital-based, prospective study, N = 100 children (M = 7.

Successful Treatment of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with COVID-19 (PIMS-TS) with Split Doses of Immunoglobulin G and Estimation of PIMS-TS Incidence in a County District in Southern Germany.

Pediatric inflammatory multisystem syndrome temporally associated with SARS Cov2 (PIMS-TS) is a newly encountered disease in children sharing clinical features with Kawasaki disease, toxic shock syndrome, or macrophage-activating syndrome. Pathogenically, it is associated with immune-mediated post-infectious hyperinflammation leading to short-term myocardial injury with yet unknown long-term outcome. We herein present three cases of PIMS-TS treated in our institution with divided doses of immunoglobulins and high dose acetyl salicylic acid, according to existing Kawasaki disease guidelines.

Visual Impairment and Functional Classification in Children with Cerebral Palsy.

Background: Cerebral palsy (CP) is the most common motor impairment in childhood and often accompanied by a broad spectrum of comorbidities. Data are sparse concerning visual impairment (VI) and functional classification among CP children.

Objective: The objective of this study was to analyze the prevalence of VI among children with CP and to investigate a possible association between VI and Gross Motor Function Classification System (GMFCS) and the Bimanual Fine Motor Function (BFMF).

Long-Term Hb, Physical Fitness, Nerve Conduction Velocities, and Quality of Life in Children with Type 1 Diabetes Mellitus-A Pilot Study.

Objective: The aim of this study was to examine a possible association of Hb, quality of life (QoL), fitness, and electrophysiological parameters in children with type 1 diabetes mellitus (T1DM).

Methods: The study population (n = 34) consisted of patients with T1DM (n = 17) and an age-, sex-, and BMI-matched healthy control group (n = 17). Hb was obtained from patients with T1DM at time of diagnosis (T0), at 6 months (T6), at 12 months (T12), and at time of study inclusion (Tstudy).

Co-infection of SARS CoV-2 and influenza A in a Pediatric Patient in Germany.

In December 2019 a novel coronavirus was firstly encountered in Wuhan/China with a massive outbreak of fatal pneumonia leading to a pandemic declared by the World Health Organization in March 2020 (WHO Dashboard COVID-19. [WHO web site]. Available from: https://www.

Manifestation of migraine in adolescents: Does it change in puberty?

Purpose: To analyze the association between pubertal stage, menstrual cycle and migraine attacks in girls with migraine. In addition, headache frequency, accompanying symptoms, duration and onset in relation to the specific phase of the cycle were investigated.

Methods: Girls between 7 and 18 years old, diagnosed with headaches that met "International Classification of Headache Disorders II" diagnostic criteria for migraine without aura, kept a daily headache and menstrual cycle diary over 8 weeks.

Bidirectional interaction between oral contraception and lamotrigine in women with epilepsy - Role of progestins.

Purpose: To investigate the effects of various progestins in combined oral contraceptives (COCs) on lamotrigine (LTG) serum concentrations and, vice versa, the potential impact of LTG on progestin serum levels during the menstrual cycle.

Methods: Twenty women with epilepsy (WWE) undergoing LTG monotherapy and COC (LTG group; mean ± SD [median; range] age 24.2 ± 4.

Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet.

We herein report the case of a 3-year-old girl with severe myoclonic epilepsy of infancy known as Dravet syndrome (DS) on a ketogenic diet (KD) whose glucose concentrations were controlled by using a flash glucose monitoring system. Two-hundred ninety-three events of moderate hypoglycemia with a minimum of 45 mg/dL, not related to day or night, were recorded during the observational period. Hypoglycemia rate declined from 24.

Vaccination Status in Pediatric Solid-Organ Transplant Recipients and Their Household Members.

Objectives: Vaccine-preventable diseases remain a major cause of morbidity and mortality in solid-organ transplant candidates and recipients. Newer recommendations include vaccination of all household members to create a herd immunity around the transplant recipient. This study evaluated the vaccination status of pediatric solid-organ transplant recipients and their household members.

Pediatric Maxillary Osteomyelitis: A Case Report of a Rare Entity.

Maxillary osteomyelitis is a rare disease, especially in the pediatric population. We present a case of maxillary osteomyelitis in an eight-year-old girl with favorable outcome. Diagnosis was based on magnetic resonance imaging as well as on direct inspection intra operatively.

Comparing modalities of conducting the six-minute walk test in healthy children and adolescents.

Background: The 6-minute walk test (6MWT) in children can be performed in the conventional way, or by using a measuring wheel. This study aimed to compare these test modalities and to determine influencing factors.

Methods: The study included 317 healthy children (172 boys) between 6 and 15 years from elementary schools and high schools, who were randomly assigned to perform a 6MWT either with or without a measuring wheel according to the guidelines of the American Thoracic Society.

A Systematic Review of the Literature of the Three Related Disease Entities Cheilitis Granulomatosa, Orofacial Granulomatosis and Melkersson - Rosenthal Syndrome.

Background And Objective: Melkersson Rosenthal syndrome (MRS) is a rare disorder of unknown etiology and comprises the triad: orofacial edema, recurrent facial paralysis and lingua plicata. In the current literature confusing heterogeneity exists, mixing together the historically grown terms cheilitis granulomatosa or granulomatous cheilitis, Melkersson Rosenthal syndrome and the umbrella term Orofacial Granulomatosis (OFG).

Methods: We provide a systematic review comprising all three disease entities of orofacial granulomatosis using the computerized database "Pubmed Medline" entering the keywords "orofacial granulomatosis" (141 references), "Melkersson-Rosenthal syndrome" (207 references), "granulomatous cheilitis" or "cheilitis granulomatosa" (102 references) back to 1956.

Quality of Life and Fitness in Children and Adolescents with Epilepsy (EpiFit).

 The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group.  In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group ( = 48) and (2) the healthy control group ( = 59).

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the γ-glutamyl cycle, affecting either glutathione synthetase or 5-oxoprolinase. While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. This has prompted us to investigate the clinical phenotype as well as the underlying genotype in patients from 14 families of various ethnic backgrounds who underwent diagnostic mutation analysis following the detection of 5-oxoprolinuria.

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.

We report a girl with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) who presented with asymmetric gait impairment, foot drop, and action myotonia on fast handgrip. Electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography. ARAN-NM was confirmed by molecular genetic testing, which revealed a novel homozygous missense variant c.

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication.

Background And Purpose: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes.

Methods: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.

Sex-, age-, and height-specific reference curves for the 6-min walk test in healthy children and adolescents.

Unlabelled: The 6-min walk test is a simple and accurate method to measure functional exercise capacity in children. We provide smooth reference curves for the modified 6-min walk test in 696 healthy children and adolescents aged 4-19 years, enabling calculation of sex-, age-, and height-specific Z-scores.

Conclusion: These reference curves will allow more accurate grading of mobility and exercise capacity in sick or disabled children and monitoring the effects of intervention or treatment.