ABSTRACT
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.
Subject(s)
Guanine Nucleotide Exchange Factors/genetics , Intellectual Disability/genetics , Rett Syndrome/genetics , Adolescent , Adult , Child , Child, Preschool , Diagnosis, Differential , Female , Genetic Association Studies , Humans , Male , Middle Aged , Point Mutation , Rett Syndrome/diagnosis , Exome Sequencing , Young AdultABSTRACT
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.
Subject(s)
Disease Progression , Hydrocephalus/diagnosis , Megalencephaly/diagnosis , Ataxia/etiology , Ataxia/therapy , Child, Preschool , Developmental Disabilities/etiology , Developmental Disabilities/therapy , Female , Follow-Up Studies , Humans , Hydrocephalus/complications , Hydrocephalus/physiopathology , Hydrocephalus/therapy , Infant , Magnetic Resonance Imaging , Male , Megalencephaly/complications , Megalencephaly/physiopathology , Megalencephaly/therapy , Muscle Hypotonia/etiology , Muscle Hypotonia/therapy , Retrospective Studies , Tremor/etiology , Tremor/therapyABSTRACT
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.
Subject(s)
Cadherins/genetics , Epilepsy , Malformations of Cortical Development , Adolescent , Child , Child, Preschool , Comorbidity , Epilepsy/epidemiology , Epilepsy/genetics , Epilepsy/physiopathology , Female , Humans , Magnetic Resonance Imaging , Malformations of Cortical Development/diagnostic imaging , Malformations of Cortical Development/epidemiology , Malformations of Cortical Development/genetics , Malformations of Cortical Development/pathology , ProtocadherinsABSTRACT
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.
Subject(s)
Epilepsy/therapy , Vagus Nerve Stimulation/methods , Adolescent , Child , Child, Preschool , Databases, Bibliographic , Electrodes, Implanted , Humans , Prospective Studies , Treatment Outcome , Vagus Nerve Stimulation/instrumentationABSTRACT
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.
Subject(s)
Blister/etiology , IgA Vasculitis/complications , Blister/diagnosis , Blister/epidemiology , Child , Female , Humans , IgA Vasculitis/drug therapy , Male , Skin Diseases, Vascular/diagnosis , Skin Diseases, Vascular/drug therapy , Steroids/therapeutic useABSTRACT
AIMS: The use of topiramate, which is prescribed for the management of epilepsy, for migraine headache prophylaxis and as a weight-loss agent, has been associated with the development of metabolic acidosis, hypokalaemia and renal stone disease. We systematically reviewed all the literature. METHODS: The systematic review of the literature was realized using the principles underlying the UK Economic and Social Research Council guidance on the conduct of narrative synthesis and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. RESULTS: Fourty-seven reports published between 1996 and 2013 were retained for the final analysis. Five case-control studies and six longitudinal studies addressed the effect of topiramate on acid-base and potassium balance. A significant tendency towards mild-to-moderate hyperchloraemic metabolic acidosis (with bicarbonate ≤21.0 mmol l(-1) in approximately every third case) and mild hypokalaemia (with potassium ≤3.5 mmol l(-1) in 10% of the cases) was noted on treatment with topiramate, which was similar in children and adults. A single study observed that topiramate causes mild hyperuricaemia in male adults. A tendency towards hypocitraturia, a recognized promoter of renal stone formation, was noted in all patients on topiramate. CONCLUSIONS: Increasing evidence supports the use of topiramate. Topiramate is generally well tolerated, and serious adverse events are rare. Nonetheless, the present systematic review of the literature indicates that its use is linked with the development of acidosis, hypokalaemia, hyperuricaemia and hypocitraturia.
Subject(s)
Acidosis/chemically induced , Fructose/analogs & derivatives , Hypokalemia/chemically induced , Kidney Calculi/chemically induced , Female , Fructose/adverse effects , Humans , Kidney Calculi/epidemiology , Male , TopiramateSubject(s)
IgA Vasculitis , Vasculitis, Leukocytoclastic, Cutaneous , Vasculitis , Dapsone , Humans , Immunoglobulin AABSTRACT
PURPOSE: Benign epilepsy with centrotemporal spikes (BECTS) is associated with mild cognitive deficits, especially language impairment. This study aimed to clarify whether children with BECTS with left- or right-hemispheric, or bilateral focus have specific neuropsychological language deficits when compared to healthy controls, whether these deficits correlate functionally with language network organization (typical vs. atypical), and whether cofactors such as duration, handedness, and medication have a relevant impact on language reorganization processes. METHODS: Twenty-seven patients and 19 healthy controls were examined with several neuropsychological tests (German version of the Wechsler Intelligence Scale for Children [WISC-IV], Regensburger verbal fluency test [RWT], Corsiblock forward and backward and Hand-Dominanz-Test [HDT]) and with two language paradigms on functional magnetic resonance imaging (fMRI): silent reading of word-pairs and silent generation of simple sentences. KEY FINDINGS: Although neuropsychological test results only differed by trend between BECTS patients and controls, language laterality indices (LIs) in fMRI were significantly lower in patients than in controls. In particular, the anterior language network with Broca's area and the supplementary motor area (SMA) revealed the lowest LIs and showed the most bilateral or right hemispheric activations in the sentence generation task. Medication and duration of epilepsy did not have any significant effect on language reorganization and patients' performances. SIGNIFICANCE: Language reorganization in BECTS patients takes place in bilateral or right hemispheric language networks, with a strong focus in anterior language regions. These functional changes can be interpreted as important compensatory strategies of the central nervous system (CNS) to stabilize cognitive, especially language performance.
Subject(s)
Action Potentials/physiology , Cerebral Cortex/physiology , Cognition Disorders/physiopathology , Cognition Disorders/psychology , Epilepsy, Rolandic/physiopathology , Epilepsy, Rolandic/psychology , Adolescent , Child , Cognition Disorders/epidemiology , Epilepsy, Rolandic/epidemiology , Female , Humans , Magnetic Resonance Imaging/methods , Male , Neuropsychological Tests , Photic Stimulation/methods , Psychomotor Performance/physiology , Wechsler ScalesABSTRACT
AIMS: In symptomatic fever management, there is often a gap between everyday clinical practice and current evidence. We were interested to see whether the three linguistic regions of Switzerland differ in the management of fever. METHODS: A close-ended questionnaire, sent to 900 Swiss paediatricians, was answered by 322 paediatricians. Two hundred and fourteen respondents were active in the German speaking, 78 in the French speaking and 30 in the Italian speaking region. RESULTS: Paediatricians from the French and Italian speaking regions identify a lower temperature threshold for initiating a treatment and more frequently reduce it for children with a history of febrile seizures. A reduced general appearance leads more frequently to a lower threshold for treatment in the German speaking than in the French and Italian speaking areas. Among 1.5 and 5-year-old children the preference for the rectal route is more pronounced in the German than in the French speaking region. French speaking respondents more frequently prescribe ibuprofen and an alternating regimen with two drugs than German speaking respondents. Finally, the stated occurrence of exaggerated fear of fever was higher in the German and Italian speaking regions. CONCLUSIONS: Switzerland offers the opportunity to compare three different regions with respect to management of febrile children. This inquiry shows regional differences in symptomatic fever management and in the perceived frequency of exaggerated fear of fever. The gap between available evidence and clinical practice is more pronounced in the French and in the Italian speaking regions than in the German speaking region.
Subject(s)
Fever/drug therapy , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Internet , Language , Male , SwitzerlandSubject(s)
Autism Spectrum Disorder/diagnosis , Checklist/methods , Child, Preschool , Early Diagnosis , Female , Humans , Infant , Male , Surveys and Questionnaires , SwitzerlandABSTRACT
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.
Subject(s)
Autism Spectrum Disorder , Infant , Humans , Child , Adolescent , Autism Spectrum Disorder/diagnosis , Switzerland , Sensitivity and Specificity , Retrospective Studies , Mass Screening/methods , ChecklistABSTRACT
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.
ABSTRACT
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.
Subject(s)
Cerebral Palsy , Cerebral Palsy/diagnosis , Cerebral Palsy/epidemiology , Cerebral Palsy/therapy , Child , Child, Preschool , Cohort Studies , Female , Humans , Male , Quality of Life , Registries , Retrospective Studies , Severity of Illness Index , Switzerland/epidemiologyABSTRACT
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 .
Subject(s)
Neurodevelopmental Disorders , Rett Syndrome , Adolescent , Child , Female , Fingolimod Hydrochloride/therapeutic use , Humans , Methyl-CpG-Binding Protein 2 , Rett Syndrome/drug therapy , SwitzerlandABSTRACT
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.
Subject(s)
Electronic Health Records , Hospital Records , Child , Hospitals, Pediatric , Humans , Prospective Studies , Retrospective StudiesABSTRACT
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.
ABSTRACT
Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation. To our knowledge, SE was reported in only four FXS patients. We report the clinical features and electroencephalography (EEG) findings of five children with FXS, who presented with SE as their initial seizure.
Subject(s)
Electroencephalography/statistics & numerical data , Fragile X Syndrome/diagnosis , Fragile X Syndrome/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Status Epilepticus/diagnosis , Status Epilepticus/genetics , Adolescent , Age of Onset , Anticonvulsants/therapeutic use , Child, Preschool , Epilepsy, Rolandic/diagnosis , Epilepsy, Rolandic/drug therapy , Epilepsy, Rolandic/genetics , Female , Fragile X Syndrome/drug therapy , Genetic Predisposition to Disease/genetics , Humans , Magnetic Resonance Imaging , Male , Status Epilepticus/drug therapy , SyndromeABSTRACT
AIM: The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology. METHOD: Clinical and neuroimaging (acute and follow-up) findings were analysed prospectively in 79 children (48 males, 31 females) aged 2 months to 15 years 8 months (median 5 y 3 mo) at the time of stroke by the Swiss Neuropaediatric Stroke Registry from 2000 to 2006. RESULTS: Stroke was confirmed in the acute period in 36 out of 41 children who underwent computed tomography, in 53 of 57 who underwent T2-weighted magnetic resonance imaging (MRI) and in all 48 children who underwent diffusion-weighted MRI. AIS occurred in the anterior cerebral artery (ACA) in 63 participants and in all cases was associated with lesions of the middle cerebral artery (MCA). The lesion was cortical-subcortical in 30 out of 63 children, cortical in 25 out of 63, and subcortical in 8 of 63 children. Among participants with AIS in the posterior circulation territory, the stroke was cortical-subcortical in 8 out of 16, cortical in 5 of 16, and thalamic in 3 out of 16 children. INTERPRETATION: AIS mainly involves the anterior circulation territory, with both the ACA and the MCA being affected. The classification of Ganesan is an appropriate population-based classification for our Swiss cohort, but the neuroimaging pattern alone is insufficient to determine the aetiology of stroke in a paediatric population. The results show a poor correlation between lesion pattern and aetiology.