Age at initial diagnosis of autism spectrum disorders: a retrospective comparison of screening techniques between the southern and northwestern regions of Switzerland.

Aims: Early diagnosis of autism spectrum disorders (ASD) offers the possibility of early intervention and, in turn, gains in adaptive behaviour, language and cognition. The aim of the present study was to analyse whether age at diagnosis of autism spectrum disorders decreased in two regions of Switzerland from 2006 to 2016 following the implementation of different screening and referral techniques. In southern Switzerland, systematic paediatric screening using the Modified Checklist for Autism (M-CHAT) in toddlers was implemented in 2013, whereas in northwestern Switzerland, periodic trainings were used to increase paediatrician awareness of ASD.

Cohort profile: the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) cohort study.

Background: Cerebral Palsy (CP) is a group of permanent disorders of movement and posture that follow injuries to the developing brain. It results in motor dysfunction and a wide variety of comorbidities like epilepsy; pain; speech, hearing and vision disorders; cognitive dysfunction; and eating and digestive difficulties. Central data collection is essential to the study of the epidemiology, clinical presentations, care, and quality of life of patients affected by CP.

Sleep Power Topography in Children with Attention Deficit Hyperactivity Disorder (ADHD).

Objective: Recent years saw an increasing interest towards sleep microstructure abnormalities in attention-deficit/hyperactivity disorder (ADHD). However, the existing literature on sleep electroencephalographic (EEG) power in ADHD is still controversial, often based on single electrode recordings, and mainly focused on slow wave activity (SWA) during NREM sleep. This study aimed to systematically investigate sleep power topography in all traditional frequency bands, in all sleep stages and across sleep cycles using high-density EEG (HD-EEG).

Auriculotemporal Frey syndrome not associated with surgery or diabetes: systematic review.

Patients who undergo salivary gland, neck, or facelift surgery or suffer from diabetes mellitus often develop Frey syndrome (also known as auriculotemporal syndrome or gustatory sweating). Frey syndrome has been occasionally reported to occur in subjects without history of surgery or diabetes but this variant of Frey syndrome has not been systematically investigated. We searched for original articles of Frey syndrome unrelated to surgery or diabetes without date and language restriction.

SwissPedData: Standardising hospital records for the benefit of paediatric research.

Background: Improvement of paediatric healthcare is hampered by inefficient processes for generating new evidence. Clinical research often requires extra encounters with patients, is costly, takes place in an artificial situation with a biased selection of patients, and entails long delays until new evidence is implemented into health care. Electronic health records (EHR) contain detailed information on real patients and cover the entirety of patients.

Clinical data for paediatric research: the Swiss approach : Proceedings of the National Symposium in Bern, Switzerland, Dec 5-6, 2019.

Background And Purpose: Continuous improvement of health and healthcare system is hampered by inefficient processes of generating new evidence, particularly in the case of rare diseases and paediatrics. Currently, most evidence is generated through specific research projects, which typically require extra encounters with patients, are costly and entail long delays between the recognition of specific needs in healthcare and the generation of necessary evidence to address those needs. The Swiss Personalised Health Network (SPHN) aims to improve the use of data obtained during routine healthcare encounters by harmonizing data across Switzerland and facilitating accessibility for research.

Fingolimod in children with Rett syndrome: the FINGORETT study.

Background: Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and case-control design.

Methods: At the University of Basel Children's Hospital, Basel, Switzerland, children with RS were included if they were older than 6 years and met the established diagnostic criteria of RS, including a positive MeCP2 mutation.

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT).

Nicolau syndrome caused by non-steroidal anti-inflammatory drugs: Systematic literature review.

Aim: Intramuscular or, more rarely, local drug injection is occasionally followed by immediate local pain, livedoid skin lesions and, some days later, the development of ischemic lesions. This very uncommon but potentially severe reaction, termed Nicolau syndrome, is traditionally associated with bismuth and β-lactam antimicrobials. The aim of this report was to review the literature associating Nicolau syndrome with the administration of non-steroidal anti-inflammatory drugs.

Shooting a high-density electroencephalographic picture on sleep in children with attention-deficit/hyperactivity disorder.

Study Objectives: Sleep-related slow-wave activity (SWA) has been recognized as a marker of synaptic plasticity. In children affected by attention deficit hyperactivity disorder (ADHD), SWA is mainly located in the central rather than frontal regions, reflecting a maturational delay. A detailed subjective and objective sleep investigation, including a full night video-polysomnography (PSG-HD-EEG), was performed on 30 consecutive drug naïve outpatients with a diagnosis of ADHD.

Sleep phenotypes in attention deficit hyperactivity disorder.

Objective: A case-control study was performed to test the hypothesis that children with attention deficit hyperactivity disorder (ADHD) have chronic sleep deprivation and may be classified into specific sleep-related phenotypes.

Methods: Thirty outpatients with ADHD (nine females, mean age 10.1 ± 2.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.

Introduction: Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them.

Sporadic acute benign calf myositis: Systematic literature review.

Acute benign calf myositis is a rare infection-associated syndrome presenting with calf pain that occurs in epidemics or sporadically. Epidemic cases are usually associated with influenza virus type B. Sporadic cases, however, might be associated with a large number of microorganisms.

Circulating neural antibodies in unselected children with new-onset seizures.

Objective: The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10-11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children.

Early vagal nerve stimulator implantation in children: personal experience and review of the literature.

Aim: Data concerning the benefit of vagal nerve stimulation (VNS) in children under the age of 12 years is sparse. It was shown that reduction of seizure frequency and duration at an early age could lead to better psychomotor development. We therefore compare the outcome between early (≤ 5 years of age) and late (> 5 years of age) implantation of VNS in children.

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Unlabelled: In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters.

Blake's pouch cyst in children: Atypical clinical presentation.

Blake's pouch cyst is a posterior fossa cystic malformation characterized by a infracerebellar cyst, absence of communication between the fourth ventricle and the subarachnoid space, and tetraventricular hydrocephalus. Children with Blake's pouch cyst typically present with macrocephaly due to hydrocephalus during the neonatal period or infancy. Atypical presentation is, however, possible.

Blistering eruptions in childhood Henoch-Schönlein syndrome: systematic review of the literature.

Unlabelled: The occurrence of blistering eruptions in childhood Henoch-Schönlein syndrome has been so far addressed exclusively in individual case reports. To describe epidemiology, clinical presentation, and therapeutic options in Henoch-Schönlein patients ≤18 years of age with blistering eruptions, we completed a systematic literature search. For the final analysis, we retained 39 reports.

Sleep-Related Disorders in Children with Attention-Deficit Hyperactivity Disorder: Preliminary Results of a Full Sleep Assessment Study.

Background And Methods: We present the preliminary results of a prospective case-control sleep study in children with a diagnosis of attention-deficit hyperactivity disorder (ADHD). A deep sleep assessment including sleep questionnaires, sleep habits, a video-polysomnographic recording with full high-density electroencephalography (EEG) and cardiorespiratory polygraphy, multiple sleep latency test, and 1-week actigraphic recording were performed to verify whether children with ADHD may be classified into one of the following five phenotypes: (1) hypoarousal state, resembling narcolepsy, which may be considered a "primary" form of ADHD; (2) delayed sleep onset insomnia; (3) sleep-disordered breathing; (4) restless legs syndrome and/or periodic limb movements; and (5) sleep epilepsy and/or EEG interictal epileptiform discharges.

Results: Fifteen consecutive outpatients with ADHD were recruited (two female, mean age 10.