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. We investigated which method was associated with a younger average age at diagnosis. METHODS: We conducted a retrospective, two-centre study searching clinical records of children and adolescents (aged 0-16 years) diagnosed with ASD in two neuropaediatric departments at Swiss hospitals between January 2006 and December 2016. All patients were diagnosed via a standardised evaluation based on two approved diagnostic tests: the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R). RESULTS: In southern Switzerland, training and subsequent widespread use of the M-CHAT among paediatricians appeared to contribute to a significantly younger age at diagnosis. Age at diagnosis did not significantly decrease during the same period in northwestern Switzerland. CONCLUSION: Our results point to the possibility of successfully reducing age at diagnosis in specific geographic areas through the implementation of screening questionnaires, such as the M-CHAT, at year 2 well-baby visits.

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. CP specialists founded the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) in 2017. This paper describes the design, structure, aims and achievements of Swiss-CP-Reg and presents its first results. METHODS: Swiss-CP-Reg records patients of any age diagnosed with CP who are born, are treated, or live in Switzerland. It collects data from medical records and reports, from questionnaires answered by patients and their families, and from data linkage with routine statistics and other registries. The registry contains information on diagnosis, clinical presentation, comorbidities, therapies, personal information, family history, and quality of life. RESULTS: From August 2017 to August 2021, 546 participants (55% male, mean age at registration 8 years [interquartile range IQR: 5-12]), were enrolled in Swiss-CP-Reg. Most had been born at term (56%), were less than two years old at diagnosis (73%, median 18 months, IQR: 9-25), and were diagnosed with spastic CP (76%). Most (59%) live with a mild motor impairment (Gross Motor Function Classification System [GMFCS] level I or II), 12% with a moderate motor impairment (GMFCS level III), and 29% with a severe motor impairment (GMFCS level IV or V). In a subset of 170 participants, we measured intelligence quotient (IQ) and saw lower IQs with increasing GMFCS level. Swiss-CP-Reg has a strong interest in research, with four nested projects running currently, and many more planned. CONCLUSIONS: Swiss-CP-Reg collects and exchanges national data on people living with CP to answer clinically relevant questions. Its structure enables retrospective and prospective data collection and knowledge exchange between experts to optimise and standardise treatment and to improve the health and quality of life of those diagnosed with CP in Switzerland.

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). METHOD: Thirty drug-naïve children with ADHD (10.5 ± 2.1 years, 21 male) and 23 typically developing (TD) control participants (mean age: 10.2 ± 1.6 years, 13 male) were included in the current analysis. Signal power topography was computed in classical frequency bands during sleep, contrasted between groups and sleep cycles, and correlated with measures of ADHD severity, cognitive functioning and estimated total sleep time. RESULTS: Compared to TD subjects, patients with ADHD consistently displayed a widespread increase in low-frequency activity (between 3 and 10 Hz) during NREM sleep, but not during REM sleep and wake before sleep onset. Such a difference involved a wide centro-posterior cluster of channels in the upper SWA range, in Theta, and low-Alpha. Between-group difference was maximal in sleep stage N3 in the first sleep cycle, and positively correlated with average total sleep time. CONCLUSIONS: These results support the concept that children with ADHD, compared to TD peers, have a higher sleep pressure and altered sleep homeostasis, which possibly interfere with (and delay) cortical maturation.

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. However, the use of EHR for research is limited because they are not standardised between hospitals. This leads to disproportionate amounts of work for extracting data of interest and frequently data are incomplete and of poor quality. AIMS: SwissPedData aims to lay the foundation for a paediatric learning health system in Switzerland by facilitating EHR-based research. In this project, we aimed to assess the way routine clinical data are currently recorded in large paediatric clinics in Switzerland and to develop a national EHR-based set of common data elements (CDEs) that covers all processes of routine paediatric care in hospitals. METHODS: A taskforce of paediatricians from large Swiss children's hospitals reviewed the current status of routine data documentation in paediatric clinical care and the extent of digitalisation. We then used a modified Delphi method to reach a broad consensus on a national EHR-based set of CDEs. RESULTS: All Swiss children's hospitals use EHR to document some or all aspects of care. One hundred and nineteen paediatricians, representing eight hospitals and all paediatric subspecialties, participated in an extended Delphi process to create SwissPedData. The group agreed on a national set of CDEs that comprises a main module with general paediatric data and sub-modules relevant to paediatric subspecialties. The data dictionary includes 336 CDEs: 76 in the main module on general paediatrics and between 11 and 59 CDEs per subspecialty module. Among these, 266 were classified as mandatory, 52 as recommended and 18 as optional. CONCLUSION: SwissPedData is a set of CDEs for information to be collected in EHR of Swiss children's hospitals. It covers all care processes including clinical and paraclinical assessment, diagnosis, treatment, disposition and care site. All participating hospitals agreed to implement SwissPedData in their clinical routine and clinic information systems. This will pave the way for a national paediatric learning health system in Switzerland that enables fast and efficient answers to urgent clinical questions by facilitating high-quality nationwide retrospective and prospective observational studies and recruitment of patients for nested prospective studies and clinical trials.

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. The project "Harmonising the collection of health-related data and biospecimens in paediatric hospitals throughout Switzerland (SwissPedData)" was an infrastructure development project funded by the SPHN, which aimed to identify and describe available data on child health in Switzerland and to agree on a standardised core dataset for electronic health records across all paediatric teaching hospitals. Here, we describe the results of a two-day symposium that aimed to summarise what had been achieved in the SwissPedData project, to put it in an international context, and to discuss the next steps for a sustainable future. The target audience included clinicians and researchers who produce and use health-related data on children in Switzerland. KEY HIGHLIGHTS: The symposium consisted of state-of-the-art lectures from national and international keynote speakers, workshops and plenary discussions. This manuscript summarises the talks and discussions in four sections: (I) a description of the Swiss Personalized Health Network and the results of the SwissPedData project; (II) examples of similar initiatives from other countries; (III) an overview of existing health-related datasets and projects in Switzerland; and (IV) a summary of the lessons learned and future prospective from workshops and plenary discussions. IMPLICATIONS: Streamlined processes linking initial collection of information during routine healthcare encounters, standardised recording of this information in electronic health records and fast accessibility for research are essential to accelerate research in child health and make it affordable. Ongoing projects prove that this is feasible in Switzerland and elsewhere. International collaboration is vital to success. The next steps include the implementation of the SwissPedData core dataset in the clinical information systems of Swiss hospitals, the use of this data to address priority research questions, and the acquisition of sustainable funding to support a slim central infrastructure and local support in each hospital. This will lay the foundation for a national paediatric learning health system in Switzerland.

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. Participants were observed 6 months before and after treatment and received 12 months of fingolimod treatment. Serum samples of 50 children without RS served as reference for brain-derived neurotrophic factor (BDNF) measurements. Primary outcome measures were safety and efficacy, the latter measured by change in levels of BDNF in serum/CSF (cerebrospinal fluid) and change in deep gray matter volumes measured by magnetic resonance imaging (MRI). Secondary outcome measure was efficacy measured by change in clinical scores [Vineland Adaptive Behaviour Scale (VABS), Rett Severity Scale (RSSS) and Hand Apraxia Scale (HAS)]. RESULTS: Six children with RS (all girls, mean and SD age 11.3 ± 3.1 years) were included. Serum samples of 50 children without RS (25 females, mean and SD age 13.5 ± 3.9 years) served as reference for BDNF measurements. No serious adverse events occurred. Primary and secondary outcome measures were not met. CSF BDNF levels were associated with all clinical scores: RSSS (estimate - 0.04, mult.effect 0.96, CI [0.94; 0.98], p = 0.03), HAS (estimate - 0.09, mult.effect 0.91, CI [0.89; 0.94], p < 0.01) and VABS (communication: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p < 0.01/daily living: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p < 0.01/social skills: estimate 0.07, mult.effect 1.08, CI [1.05; 1.11], p < 0.01/motoric skills: estimate 0.04, mult.effect 1.04, CI [1.03; 1.06], p = 0.02). CONCLUSIONS: In children with RS, treatment with fingolimod was safe. The study did not provide supportive evidence for an effect of fingolimod on clinical, laboratory, and imaging measures. CSF BDNF levels were associated with clinical scores, indicating a need to further evaluate its potential as a biomarker for RS. This finding should be further validated in independent patient groups. TRIAL REGISTRATION: Clinical Trials.gov NCT02061137, registered on August 27th 2013, https://clinicaltrials.gov/ct2/show/study/NCT02061137 .

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). Several patients harboring IQSEC2 mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype-phenotype correlation, we collected data of 16 patients harboring IQSEC2 point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing IQSEC2. Most of our patients surprisingly shared a moderate-to-mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also IQSEC2 mutated patients may lay under the wide clinical spectrum of RTT and thus IQSEC2 should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for IQSEC2-associated phenotype delineation.

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. They received a diagnosis of sleep disorders in 29/30 cases, and most of them had a past history of sleep problems. They had a higher apnea-hypopnea index at PSG, and slept less than 9 hr at actigraphy. We aimed to describe the SWA behavior in the same group of children with ADHD. MATERIALS AND METHODS: The full-night PSG-HD EEG of children with ADHD was compared with the one of the 25 healthy controls. The scalp SWA mapping, the decrease of SWA during the night, and the EEG source of SWA were analyzed. RESULTS: At scalp topography, the focus of SWA was observed over the centro-parietal-occipital regions in participants with ADHD (p < 0.01), which remained significant in the subgroups divided between subgroups according to the sleep diagnosis (p < 0.01). The physiological decrease in SWA was more evident in control participants. The source analysis revealed a greater delta power over the posterior cingulate in participants with ADHD (p < 0.01). CONCLUSIONS: Our results confirm static and dynamic changes in SWA behavior in children with ADHD, which may reflect a maturational delay occurring at a vulnerable age, as a consequence of chronic sleep deprivation.

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 ± 2.1 years) were recruited consecutively, and given a comprehensive sleep assessment, including blood exams, sleep questionnaires, laboratory video-polysomnographic recordings (v-PSG), multiple sleep latency tests, and one-week actigraphy. The PSG parameters were compared to those of 25 age-matched controls (12 females, mean age 10.34 ± 1.54 years) who underwent only the v-PSG. RESULTS: ADHD children were classified as follows: a narcolepsy-like phenotype was found in four; delayed sleep onset insomnia in five; obstructive sleep apnea (OSA) in 15; periodic limb movements in eight, and sleep epileptiform discharges in 10 children. All subjects had a total sleep time shorter than 9 h at actigraphy, ferritin levels lower than 60 mcg/L, and a history of sleep problems (mainly OSA and insomnia). Compared to controls, the ADHD group had a higher apnea-hypopnea index at PSG. CONCLUSIONS: A full sleep assessment in children with ADHD confirmed the validity of the sleep phenotypes hypothesis, and revealed a much higher percentage of sleep problems than that found in the literature. Beyond the sleep phenotypes, all children reported a history of sleep problems and slept less than 9 h per night, indicating chronic sleep deprivation that should be evaluated as a possible unifying marker of ADHD.

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. METHODS: We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013. Data on clinical and radiological follow-up were collected until June 2017. RESULTS: Five children diagnosed with arrested hydrocephalus were included in the study. All patients presented macrocephaly as the main presenting sign. Associated mild-to-moderate stable motor disorders were assessed in four out of five cases. Typical symptoms and signs associated with acute raised intracranial pressure were absent in all patients. Magnetic resonance imaging studies showed ventriculomegaly in all patients. A diagnosis of arrested hydrocephalus was made in all five cases based on stable clinical and radiological findings during the initial observation. Conservative management based on active surveillance was, therefore, proposed. During the follow-up period, we observed stable or improved conditions in four out of five patients, while the remaining patient presented progressive hydrocephalus. DISCUSSION: Making a distinction between arrested and progressive hydrocephalus is fundamental, because of the opposed appropriate management. Any newly discovered case of hydrocephalus, not characterized by clear signs of progressive hydrocephalus, should benefit from active surveillance before any definitive decision is taken.

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. Furthermore, during an outbreak there is a great alertness that promotes earlier diagnosis. In contrast, there is likely a lower awareness regarding the sporadic form, compromising early and correct diagnosis. In order to characterize the sporadic form of acute calf myositis and increase the knowledge of this condition, we systematically reviewed the literature reporting sporadic cases. We identified 72 reports, including 451 patients, 325 males and 126 females. Sporadic acute benign calf myositis affected subjects ≤18 years of age (N = 450; 99%), who followed a prodromal flu-like illness (N = 411; 91%), presented with pain and tenderness affecting only the calves for ≤1½ weeks (N = 441; 99%) and was never complicated by kidney involvement. The creatine kinase ratio was ≥10 in 310 (70%) out of 444 cases. Microbiological studies identified an infectious trigger in 181 cases, mostly influenza virus (type B more frequently than type A), Dengue, Ebstein-Barr or Parainfluenza virus and Mycoplasma pneumoniae. Sporadic acute benign calf myositis is a self-limited condition that can usually be diagnosed on a clinical basis. Unlike the epidemic form, many cases are due to microorganisms other than influenza virus B or A.

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. METHODS: This study is a prospective review of patients analyzing primarily the reduction of seizure frequency and secondarily epilepsy outcome assessed by the McHugh and Engel classification, reduction of antiepileptic drugs (AED), psychomotor development measured by the Vineland Adaptive Behavior Scale (VABS), and quality of life using the caregiver impression (CGI) scale. Mean follow-up time was 36 and 31 months in the early and late group, respectively. RESULTS: Out of 12 consecutive VNS implantations for therapy refractory epilepsy, 5 were early implantations and 7 late implantations. Reduction of seizure frequency, McHugh and Engel classification, quality of life, psychomotor development and reduction of AED were comparable in both groups. One patient in the late group suffered from a postoperative infection resulting in explanation of the VNS device and re-implantation on the opposite side, while mortality rate was 0%. CONCLUSIONS: VNS seems to be a safe and feasible therapy in children even under the age of 5 years. Responder rate, quality of life, and psychomotor development do not seem to be influenced by the child's age at implantation; however, larger studies analyzing the outcome of early VNS implantation are warranted.

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. Here we present clinical and neuroimaging findings, as well as management and outcome, of an 18-month-old girl with atypical presentation of Blake's pouch cyst characterized by cerebellar ataxia. Familiarity with the neuroimaging findings of Blake's pouch cyst and differentiation between Blake's pouch cyst and other posterior fossa cystic malformations is important in terms of diagnosis, management, prognosis, and counseling of the affected families.

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

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. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. WHAT THIS PAPER ADDS: Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures.

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

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. Ten children with blisters were found in 7 (1.5%) case series containing a total of 666 unselected pediatric Henoch-Schönlein cases. We also found 41 individually documented cases of Henoch-Schönlein syndrome with blistering eruptions. Blistering eruptions and purpura were distributed very similarly, blisters developed concomitantly with palpable purpura or with a latency of ≤14 days, and 80% of the cases remitted within 4 weeks with a similar course in children managed expectantly and in those managed with steroids. CONCLUSION: Blistering eruptions are rare in Henoch-Schönlein syndrome. They can be a source of diagnostic dilemma but do not have any prognostic value since they almost always spontaneously subside within 4 weeks. What is known: • Textbooks and reviews marginally refer to the occurrence of blistering eruptions in children with Henoch-Schönlein syndrome. What is new • Blistering eruptions occur in <2% of cases. • Blisters and purpura are distributed similarly, blisters develop concomitantly with purpura or with a latency of ≤14 days. • Almost all cases remit within 4 weeks with a similar course in children managed expectantly and in those managed with systemic steroids.

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 10.6 ± 2.2, age range 8-13.7 years) over 6 months. The narcolepsy-like sleep phenotype was observed in three children, the sleep onset insomnia phenotype was observed in one child, mild obstructive sleep apnea was observed in three children, sleep hyperkinesia and/or PLMs were observed in five children, while IEDs and or nocturnal epilepsy were observed in three children. Depending on the sleep phenotype, children received melatonin, iron supplementation, antiepileptic drugs, or stimulants. CONCLUSIONS: Our study further highlights the need to design an efficient sleep diagnostic algorithm for children with ADHD, thereby more accurately identifying cases in which a full sleep assessment is indicated.

Incidence and outcomes of symptomatic neonatal arterial ischemic stroke.

BACKGROUND AND OBJECTIVES: Neonatal arterial ischemic stroke (NAIS) is associated with considerable lifetime burdens such as cerebral palsy, epilepsy, and cognitive impairment. Prospective epidemiologic studies that include outcome assessments are scarce. This study aimed to provide information on the epidemiology, clinical manifestations, infarct characteristics, associated clinical variables, treatment strategies, and outcomes of NAIS in a prospective, population-based cohort of Swiss children. METHODS: This prospective study evaluated the epidemiology, clinical manifestations, vascular territories, associated clinical variables, and treatment of all full-term neonates diagnosed with NAIS and born in Switzerland between 2000 and 2010. Follow-up was performed 2 years (mean 23.3 months, SD 4.3 months) after birth. RESULTS: One hundred neonates (67 boys) had a diagnosis of NAIS. The NAIS incidence in Switzerland during this time was 13 (95% confidence interval [CI], 11-17) per 100,000 live births. Seizures were the most common symptom (95%). Eighty-one percent had unilateral (80% left-sided) and 19% had bilateral lesions. Risk factors included maternal risk conditions (32%), birth complications (68%), and neonatal comorbidities (54%). Antithrombotic and antiplatelet therapy use was low (17%). No serious side effects were reported. Two years after birth, 39% were diagnosed with cerebral palsy and 31% had delayed mental performance. CONCLUSIONS: NAIS in Switzerland shows a similar incidence as other population-based studies. About one-third of patients developed cerebral palsy or showed delayed mental performance 2 years after birth, and children with normal mental performance may still develop deficits later in life.