Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.

Background: ADCY5-related dyskinesia is a rare disorder caused by mutations in the ADCY5 gene resulting in abnormal involuntary movements. Currently, there are no standardized guidelines to treat this condition.

Objective: The aim of this study was to evaluate the efficacy of theophylline administration in improving symptoms and quality of life in patients with ADCY5-related dyskinesia.

Pediatric reference values of VEGF-D derived from a German population-based cohort of healthy children.

Background: Vascular endothelial growth factor D (VEGF-D) is a growth-factor involved in the development of blood vessels and lymphatics in tissues all over the human body. Interestingly, VEGF-D serum levels are increased in certain tumor entities. For tuberous sclerosis complex (TSC), a rare genetic disease associated with (benign) tumor growth, VEGF-D is already implemented as a diagnostic and therapeutic biomarker to monitor onset and progress of lymphangioleiomyomatosis (LAM), one of the noncancerous tumor manifestations in mainly female adult TSC patients.

The potential impact of intraoperative neurophysiological monitoring on neurological function outcomes after postnatal spina bifida repair.

Introduction: The management of open neural tube defects (ONTD) has significantly improved with fetal surgery, but many children remain ineligible for fetal therapy. This study assesses the impact of intraoperative neurophysiological monitoring (IONM) during postnatal myelomeningocele (MMC) repair and its potential to optimize functional outcomes.

Patients And Methods: Seven newborns with thoracolumbar or lumbar MMC underwent postnatal surgical repair using IONM.

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.

: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) tumor suppressor gene on chromosome 10q23.31. This can result in a lifelong tumor predisposition in patients.

A Training for Parents Prevents Clinically Relevant Handling Errors in the Use of Long-Term Antiseizure Medication.

Background: Medication handling errors (ME) in long-term antiseizure medication (ASM) compromise patient safety. Training programs to prevent those errors by parents are scarce.

Patients: The intervention concept is designed for parents of children and adolescents aged 0-18 years with at least one long-term ASM.

Precision Medicine in Angelman Syndrome.

Angelman syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of on the maternal allele. Clinical features include severe neurodevelopmental delay, epilepsy, sleep disturbances, and behavioral disorders. Therapy currently evolves from conventional symptomatic, supportive, and antiseizure treatments toward alteration of mRNA expression, which is subject of several ongoing clinical trials.

Pediatric Syncope: Is the Diagnostic Guideline Implemented and Adhered to?

Background: We sought to investigate adherence to the current pediatric syncope guideline in the emergency department and its impact on the frequency of missed or unnecessary diagnostic measures. For the first time, in 2014 updated guideline defines indispensable basic diagnostic measures and a consecutive algorithm for safe clinical decision making.

Patients And Method: We analyzed retrospectively 314 pediatric patients, 166 were presented before and 148 after publication of this guideline update.

Still an Unsolved Question: The Place of Cranial Magnetic Resonance Imaging in Acute Acquired Concomitant Esotropia.

Purpose: The aim of this study was to collect further data to estimate the risk of relevant intracranial pathology and thereby better assess the need for cranial imaging in children with acute acquired comitant esotropia (AACE). To date, there is still not enough literature on this topic to enable a consensus on the diagnostic algorithm.

Methods: We analyzed data from patients with convergent strabismus who received cranial imaging via magnetic resonance imaging (MRI).

Creatine kinase serum levels in children revisited: New reference intervals from a large cohort of healthy children and adolescents.

Background: Creatine Kinase (CK) has become increasingly important in pediatrics as a commonly used laboratory screening parameter for neuromuscular diseases. Recent research suggests that hyperCKemia in children is not always associated with pathology and can occur due to several reasons. Little is known of various clinical factors that may influence CK throughout child development.

Drowning and Nonfatal Drowning in Children and Adolescents: A Subsequent Retrospective Data Analysis.

Fatal and nonfatal drowning are among the leading causes of death and lifelong severe neurological impairment among children and adolescents. This study aimed to complement research from Leipzig 1994-2008 to seek trends within risk factors, treatments, and outcomes throughout the last decade. We retrospectively investigated data of 47 inpatients aged 0-18 admitted to Leipzig University Department of Pediatrics who matched ICD-10 code T75.

The Impact of Demographic Characteristics on Parenting Stress among Parents of Children with Disabilities: A Cross-Sectional Study.

Even though it is already known that parents of children with developmental delays or disabilities experience higher parenting stress than families of typically developing children, the contributing factors need to be analyzed in more detail. The aim of this cross-sectional study was to examine the influence of demographic characteristics on parenting stress from caring for a disabled child and to identify possible protective or additional stressful social factors. A total of 611 mothers and fathers of children with developmental delays, chronic diseases, or disabilities completed two questionnaires during their medical appointments at the Children's Development Center (CDC) of Leipzig University Hospital between June 2020 and February 2021.

Parenting stress in families of children with disabilities: Impact of type of disability and assessment of attending paediatricians.

Background: Parents of children with developmental disorders (DD) or disabilities report greater parenting stress than parents of typically developing children. To minimise this stress, stressful factors need to be known and stress needs to be recognised early. The present cross-sectional study aims to systematically assess and compare parenting stress in families of children with various types of disabilities.

Acute and Chronic Kernicterus: MR Imaging Evolution of Globus Pallidus Signal Change during Childhood.

Background And Purpose: Despite its rarity in Western countries, kernicterus resulting from severe neonatal hyperbilirubinemia and its associated neurologic consequences still persists. Subtle MR imaging patterns may be overlooked, leading to diagnostic and prognostic uncertainties. The study systematically analyzes MR imaging pattern over time.

Cerebrospinal Fluid Protein Concentrations in Hydrocephalus.

CSF protein levels are altered in neurological disorders, such as hydrocephalus of different etiologies. In this retrospective observational study, we analyzed cerebrospinal fluid (CSF) samples in hydrocephalic diseases such as aqueductal stenosis (AQS, = 27), normal pressure hydrocephalus (NPH, = 24), hydrocephalus communicans (commHC, = 25) and idiopathic intracranial hypertension (IIH)/pseudotumor cerebri (PC, = 7) in comparison with neurological patients without hydrocephalic configuration (control, = 95). CSF was obtained through CSF diversion procedures and lumbar punction and analyzed for protein concentrations according to the institution's laboratory standards.

Effects of theophylline on ADCY5 activation-From cellular studies to improved therapeutic options for ADCY5-related dyskinesia patients.

We show the effects of the three purine derivatives, caffeine, theophylline, and istradefylline, on cAMP production by adenylyl cyclase 5 (ADCY5)-overexpressing cell lines. A comparison of cAMP levels was performed for ADCY5 wild-type and R418W mutant cells. ADCY5-catalyzed cAMP production was reduced with all three purine derivatives, while the most pronounced effects on cAMP reduction were observed for ADCY5 R418W mutant cells.

Brain deposition of gadobutrol in children-a cross-sectional and longitudinal MRI T1 mapping study.

Objectives: Depositions of linear gadolinium-based MRI contrast agents are readily visible in T1-weighted MRIs of certain brain regions in both adults and children. Macrocyclic contrast agents such as gadobutrol have so far escaped detection by qualitative MRI in children. This study aimed to assess whether there is evidence for deposition of gadobutrol in children using quantitative T1 mapping.

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.

Background And Objective: The spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis and relapsing courses of these presentations. Persistently high MOG antibodies (MOG immunoglobulin G [IgG]) are found in patients with a relapsing disease course. Prognostic factors to determine the clinical course of children with a first MOGAD are still lacking.

Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.

Deficiency of adenosine deaminase 2 (DADA2) is a rare Mendelian, autoinflammatory multiorgan disease. We report the case of a 3.8-year-old female patient who was admitted with an acute brainstem stroke and was diagnosed with DADA2 by early initiation of exome sequencing.

STEAM-DWI as a robust alternative to EPI-DWI: Evaluation in pediatric brain MRI.

Purpose: Diffusion-weighted imaging (DWI) is an essential element of almost every brain MRI examination. The most widely applied DWI technique, a single-shot echo-planar imaging DWI (EPI-DWI) sequence, suffers from a high sensitivity to magnetic field inhomogeneities. As an alternative, a single-shot stimulated echo acquisition mode diffusion-weighted MRI (STEAM-DWI) has recently been re-introduced after it became significantly faster.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca pumps that participate in the regulation of intracellular free Ca. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten genes involved have been associated with a range of autosomal recessive rare diseases such as a neurodevelopmental disorder with muscular dystrophy (CHKB), bone abnormalities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT2, SELENOI). We identified six individuals from five families with bi-allelic variants in CHKA presenting with severe global developmental delay, epilepsy, movement disorders and microcephaly.