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BACKGROUND: Acute ischemic stroke is a leading cause of pediatric death and disability. A clinical scale adapted for children can ensure early detection of candidates for urgent acute ischemic stroke treatment. The Rapid Arterial Occlusion Evaluation (RACE) scale for adults, which scores 5 items (facial palsy 0-2; arm motor function 0-2; leg motor function 0-2; head/gaze deviation 0-1; and aphasia or agnosia 0-2), has good sensitivity and specificity in detecting large vessel occlusion. METHODS: We adapted the previously validated RACE scale for use in children as the Pediatric RACE scale. This adapted scale was tested by prehospital/emergency room staff attending to patients covered by the Catalan Pediatric Stroke Code and child neurologists for its correlation with the Pediatric National Institutes of Health Stroke Scale and for interrater reliability. RESULTS: The study included 50 children, 18 with confirmed strokes (7 acute ischemic strokes and 11 hemorrhagic strokes). Prehospital/emergency staff and child neurologists agreed fully regarding 82% of patients and 100% regarding head/gaze deviation and agnosia. The Pediatric RACE scale correlated strongly with the Pediatric National Institutes of Health Stroke Scale in evaluations by child neurologists (Spearman ρ, 0.852; P<0.001) and prehospital/emergency staff (Spearman ρ, 0.781; P<0.001). The median Pediatric RACE score was significantly higher in patients with large vessel occlusion (6.5; interquartile range, 6-7) than with other etiologies. CONCLUSIONS: Pediatric RACE, showing good interrater reliability and correlation with the Pediatric National Institutes of Health Stroke Scale, is a simple scale to detect candidates for pediatric acute stroke treatment, designed for both prehospital and in-hospital use by non-neurologist medical staff.
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The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance. To highlight the unmet needs for KDT services, the ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on KDT implementation and utilization, addressing the following topics: Use and completeness of guidelines and protocols; assessment of compliance and outcome parameters, sustainability and inclusivity in daily life. Consistently reported unmet needs included the lack of psychological support and resources to measure and improve adherence to KDT, the lack of inclusion strategies, and shared guidelines and protocols adapting to specific needs. Future interventions should focus primarily on educational and informative measures together with creation of shared protocols for complex care. PLAIN LANGUAGE SUMMARY: This study provides the results of a survey compiled by clinicians and patients representatives belonging to ERN Epicare, designed to unravel unmet needs from both patients' and healthcare practitioners' perspectives during ketogenic dietary therapies (KDT) provision. Importantly, results show the need to create new shared protocols and guidelines meant for KDT use in complex care situations and to develop future strategies initiatives to support patients improving their social inclusivity.
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Dieta Cetogénica , Humanos , Encuestas y Cuestionarios , Epilepsia/dietoterapia , Necesidades y Demandas de Servicios de Salud , Evaluación de NecesidadesRESUMEN
Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have identifiable patterns of DNA methylation (DNAm) change: DNAm signatures or episignatures. Given the role of KANSL1 in histone acetylation, we tested whether variants underlying KdVS are associated with a DNAm signature. We profiled whole-blood DNAm for 13 individuals with KANSL1 variants, four individuals with 17q21.31 microdeletions, and 21 typically developing individuals, using Illumina's Infinium EPIC array. In this study, we identified a robust DNAm signature of 456 significant CpG sites in 8 individuals with KdVS, a pattern independently validated in an additional 7 individuals with KdVS. We also demonstrate the diagnostic utility of the signature and classify two KANSL1 VUS as well as four variants in individuals with atypical clinical presentation. Lastly, we investigated tissue-specific DNAm changes in fibroblast cells from individuals with KdVS. Collectively, our findings contribute to the understanding of the epigenetic landscape related to KdVS and aid in the diagnosis and classification of variants in this structurally complex genomic region.
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Anomalías Múltiples , Deleción Cromosómica , Discapacidad Intelectual , Humanos , Anomalías Múltiples/genética , Cromosomas Humanos Par 17 , Metilación de ADN , Genes Reguladores , Discapacidad Intelectual/genética , Discapacidad Intelectual/diagnósticoRESUMEN
Introducción. El diagnóstico de síndrome cerebeloso cognitivo afectivo se debe realizar en aquellos pacientes con lesiones cerebelosas y con déficit cognitivo asociado a deficiencias neuropsicológicas visoespaciales o ejecutivas, trastornos del lenguaje expresivo y trastornos afectivos. Caso clínico. Adolescente de 16 años diagnosticada con trastorno por déficit de atención e hiperactividad a los 7 años, que presenta inestabilidad emocional, apatía y discurso y lectura poco fluidos. Se observan deficiencias visoespaciales en los tests neuropsicológicos. Se realiza una resonancia magnética cerebral por presentar alteración de la coordinación y motricidad fina, y se evidencia atrofia de vermis cerebeloso. La sintomatología es compatible con síndrome cerebeloso cognitivo afectivo. Clásicamente, el cerebelo es conocido por su rol motor. Sin embargo, está implicado en funciones cognitivas superiores, en la expresión emocional y en la regulación conductual. El síndrome cerebeloso cognitivo afectivo es una entidad no bien conocida que debemos incluir en el diagnóstico diferencial de trastornos neuropsiquiátricos con lesión cerebelar.
Introduction. The diagnosis of Cerebellar Cognitive Affective Syndrome should be considered in patients with cerebellar lesions who also suffer cognitive deficits associated with visuospatial or executive neuropsychological disorders, expressive language disorders and affective disorders. Clinical case. A 16 year old adolescent diagnosed with Attention Deficit Hyperactivity Disorder at the age of 7 presents with emotional instability, apathy, and speech and reading difficulties. Neuropsychological tests show visuospatial difficulties. A brain magnetic resonance imaging is performed due to impaired coordination and fine motor movements and shows atrophy of the cerebellar vermis. The clinical picture suggests a diagnosis of Cerebellar Cognitive Affective Syndrome. The cerebellum is mostly known for its motor role. However, it is also involved in higher cognitive functions, expression of emotion and behavioral regulation. Cerebellar Cognitive Affective Syndrome is a relatively unknown diagnosis and should be included in the differential diagnosis of neuropsychiatric disorders with cerebellar lesion.