RESUMEN
The Survivorship Passport (SurPass) for childhood cancer survivors provides a personalized treatment summary together with a care plan for long-term screening of possible late effects. HL7 FHIR connectivity of Electronic Health Record (EHR) systems with the SurPass has been proposed to reduce the burden of collecting and organizing the relevant information. We present the results of testing and validation efforts conducted across six clinics in Austria, Belgium, Germany, Italy, Lithuania, and Spain. We also discuss ways in which this experience can be used to reduce efforts for the SurPass integration in other clinics across Europe.
Asunto(s)
Supervivientes de Cáncer , Registros Electrónicos de Salud , Humanos , Niño , Europa (Continente) , Estándar HL7 , Neoplasias/terapia , Interoperabilidad de la Información en SaludRESUMEN
Innovation in cancer therapy has increased childhood cancer survival rates. However, survivors are still at risk of developing late effects. In the digital transformation of the health sector, the Survivorship Passport (SurPass) can support long-term follow-up care plans. Gaps in seamless connectivity among hospital departments, primary care, combined with the time of health professionals required to collect and fill-in health data in SurPass, are barriers to its adoption in daily clinical practice. The PanCareSurPass (PCSP) project was motivated to address these gaps by a new version of SurPass (v2.0) that supports semi-automatic assembly from organizational Electronic Health Record (EHR) systems of the treatment summary data using HL7 FHIR, to create SurPass, and to link it to regional or national digital health infrastructures in six European countries. In this paper we present the methodology used to develop the SurPass technical implementation strategy with special focus on the European Health Data Space (EHDS). The recently provisionally approved EHDS regulation instruments a digital health data ecosystem with opportunities for cost-effective SurPass implementation across Europe. Moving forward, a European HL7 FHIR SurPass Implementation Guide along with synthetic data sets, and validation tools can enrich the European Electronic Health Record Exchange Format (EEHRxF) with use cases on health & wellness of childhood cancer survivors.
Asunto(s)
Registros Electrónicos de Salud , Humanos , Europa (Continente) , Niño , Neoplasias/terapia , Supervivientes de Cáncer , SupervivenciaRESUMEN
Dravet syndrome is currently considered as an developmental and epileptic encephalopathy and, recently, mandatory, alert, and exclusionary criteria have been proposed. Here, we describe three patients with Dravet syndrome with the typical early presentation including febrile and afebrile alternating hemiclonic seizures due to loss-of-function SCN1A variants. Subsequently, they developed episodes of febrile focal status epilepticus (SE) associated with hemiparesis and cerebral hemiatrophy with posterior focal seizures, as a consequence of Dravet syndrome. This sequence of events has been previously published in patients with Dravet syndrome and does not contradict the recent classification by the International League Against Epilepsy (ILAE). The ILAE guidance identifies "Focal neurological findings" as alert criteria and "MRI showing a causal focal lesion" as exclusionary criteria for making an initial diagnosis of Dravet syndrome at presentation. Our three patients would correspond to a severe phenotype, similar to the well-known presentation of generalized atrophy following prolonged status epilepticus. Common genetic findings in cases of diffuse and unilateral brain involvement may help explain these clinical presentations. Further genotype-phenotype studies may provide additional insights into this electroclinical behavior.
Asunto(s)
Epilepsias Mioclónicas , Epilepsia , Convulsiones Febriles , Estado Epiléptico , Humanos , Mutación , Canal de Sodio Activado por Voltaje NAV1.1/genética , Epilepsia/diagnóstico , Estado Epiléptico/genética , Estado Epiléptico/complicaciones , Convulsiones Febriles/complicaciones , Atrofia , Paresia/complicacionesRESUMEN
PURPOSE: The aim of this study was to analyze patients whose only manifestation of epilepsy were generalized tonic-clonic seizures (GTCS) during childhood and discuss its validity as separate syndrome of childhood. METHODS: We included children with at least two unprovoked GTCS between 3 and 11 years of age, no other seizure types at diagnosis, normal psychomotor development and neurological examination, an EEG with normal background and paroxysms of generalized spikes and waves with a frequency 2.5 Hz or above, and an unknown cause for epilepsy. Only patients with a follow-up >2 years were included. RESULTS: Over a 12-year period (2005-2017) 26 patients met the inclusion criteria of epilepsy with GTCS only. Mean age at onset was 5 years. The seizures occurred while awake in 16 patients, on awakening in two, and during sleep in eight patients. The duration of seizures was around 3 min. Generalized spike-and-wave discharges were observed in all patients when awake and during sleep in eight and 26 patients, respectively. Nineteen responded well to valproic acid or levetiracetam. Two patients who received clobazam initially did not respond well; however, a switch to valproic acid resulted in excellent seizure control. Antiepileptic treatment was discontinued in sixteen patients who remained seizure free over a period of 2-9 years of follow-up. CONCLUSION: Epilepsy with GTCS alone in childhood is a type of epilepsy; however, it may be considered as a well-defined epileptic syndrome. Patients responded well to valproic acid or levetiracetam.
Asunto(s)
Epilepsia/complicaciones , Convulsiones/complicaciones , Adolescente , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Electroencefalografía , Epilepsia/diagnóstico por imagen , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Trastornos del Lenguaje/etiología , Estudios Longitudinales , Masculino , Estudios Retrospectivos , Convulsiones/diagnóstico por imagen , Convulsiones/tratamiento farmacológicoRESUMEN
The aim of this study was to analyse the electroclinical and imaging findings and outcome of patients with Rasmussen syndrome (RS) with atypical manifestations. We conducted a retrospective, descriptive study of 10 of 44 consecutive patients with RS with atypical features, followed between 1999 and 2017. Six patients were boys and four were girls. The mean and median ages at onset of the seizures were 8.8 and 6.5 years, respectively (range: 4.6-13 years). All of the patients except one had seizures. Eight patients (80%) had epilepsia partialis continua that started at a mean age of 7.5 years (range: 7-15 years). In our series, hemiparesis without seizures was the first manifestation in three patients, one of whom had dual pathology. In two patients, the first manifestation was dyskinetic movements, followed by delayed-onset seizures associated with unilateral caudate atrophy. Two patients had a focal lesion mimicking focal cortical dysplasia as the first MRI abnormality; one of these two patients had epileptic spasms in clusters. Bilateral cerebral hemisphere involvement was observed in three patients during the course of the disease. Six of eight patients responded well to surgical treatment. Progressive hemiparesis alone or with delayed-onset seizures, dyskinetic movements associated with seizures, a focal lesion mimicking focal cortical dysplasia, and bilateral brain involvement were the atypical features recognized. Our series of patients responded well to surgery. Clinical, video-EEG, and neuroradiological follow-up is important for early confirmation of RS in order to initiate adequate management of the condition.
Asunto(s)
Encéfalo/diagnóstico por imagen , Encefalitis/diagnóstico por imagen , Epilepsia Parcial Continua/diagnóstico por imagen , Adolescente , Atrofia/diagnóstico por imagen , Atrofia/patología , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Preescolar , Electroencefalografía , Encefalitis/patología , Encefalitis/fisiopatología , Epilepsia Parcial Continua/patología , Epilepsia Parcial Continua/fisiopatología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy. RESULTS: Mean age at symptom onset was 3 years in G1 and 3.4 years in G2. Symptoms at onset were epilepsy in 58%, language delay in 34%, and gait disturbances in 8% of patients in G1 and epilepsy in 52.1%, language delay in 26%, gait disturbances in 17.4%, and loss of visual acuity in 4.5% in G2. The most common seizure types in G1 patients were myoclonic in 3/7, generalized tonic-clonic in 2/7, focal motor in 1/7, and febrile seizures in 1/7; in G2 patients they were myoclonic in 5/12, generalized tonic-clonic in 3/12, myoclonic-atonic in 2/12, and febrile seizures in 2/12. A photoparoxysmal response to intermittent photic stimulation (IPS) was found in the initial EEG in 9/12 patients in G1 (mean age 3.8 years) and in 10/13 patients in G2 (mean age 3.9 years). CONCLUSIONS: There were no significant differences between both groups. Seizures, especially myoclonic, are the most common symptom at onset followed by language delay and gait disturbances. Low-frequency IPS is a useful study that may help facilitate the diagnosis of the disease.
Asunto(s)
Electroencefalografía , Potenciales Evocados Visuales/fisiología , Lipofuscinosis Ceroideas Neuronales/complicaciones , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Convulsiones/etnología , Edad de Inicio , Niño , Preescolar , Femenino , Trastornos Neurológicos de la Marcha/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Lipofuscinosis Ceroideas Neuronales/clasificación , Estudios Retrospectivos , Tripeptidil Peptidasa 1RESUMEN
PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome. Generalized spike-and-wave discharges were observed in all patients when awake and during sleep (100%). During the evolution no particular electroclinical pattern was observed. The patients responded well to antiepileptic drugs, such as valproic acid and levetiracetam. Outcome was good in all patients. CONCLUSIONS: We found evidence that patients with BRE may have generalized EEG discharges at onset as the sole manifestation lasting throughout the course of the syndrome. In some, focal paroxysms developed later. The course was benign. In our group of patients, clinical features and evolution were similar to those of typical cases of BRE. Response to valproic acid and levetiracetam was found to be particularly good.
Asunto(s)
Encéfalo/fisiopatología , Electroencefalografía , Epilepsia Rolándica/diagnóstico , Epilepsia Rolándica/fisiopatología , Anticonvulsivantes , Niño , Preescolar , Epilepsia Rolándica/tratamiento farmacológico , Femenino , Humanos , Levetiracetam , Masculino , Piracetam/análogos & derivados , Piracetam/uso terapéutico , Estudios Retrospectivos , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , Convulsiones/fisiopatología , Ácido Valproico/uso terapéuticoRESUMEN
OBJECTIVE: We analyzed the electroclinical features, etiology, treatment, and outcome of 12 patients with West syndrome (WS) associated with focal hypsarrhythmia (FH). METHODS: Between February 2005 and July 2013, 12 patients met the electroclinical diagnostic criteria of WS associated with FH. Hypsarrhythmia was considered to be focal when two or three brain lobes were involved. Patients with hemihypsarrhythmia were excluded. RESULTS: All patients had epileptic spasms (ES) in clusters of a structural etiology. Four had a porencephalic cyst, two had focal cortical dysplasia, two had open-lip schizencephaly, and one each had unilateral polymicrogyria, shunted hydrocephalus, glioma, and cerebral hemiatrophy. Age at ES onset was between 2 and 8 months, with a mean age of 5 and a median age of 6 months. Seven patients had asymmetric ES, three had symmetric ES, and two patients had unilateral ES. FH was seen over the posterior regions in nine and over the anterior regions in three. Ictal EEG recordings showed diffuse high-amplitude slow waves in six patients, diffuse slow waves followed by voltage attenuation in three, and diffuse fast rhythms in three others. In three patients the ictal paroxysms were unilateral. Six patients responded well to surgery. CONCLUSION: ES associated with FH are secondary to structural lesions. Surgery should be considered earlier in the management of this group of patients.