Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases mainly caused by a deficiency of lysosomal hydrolases, resulting in a gradual accumulation of non-degraded substrates in different tissues causing the characteristic clinical manifestations of such disorders. Confirmatory tests of suspected LSD individuals include enzymatic and genetic testing. A well-oriented clinical suspicion can improve the cost-effectiveness of confirmatory tests and reduce the time expended to achieve the diagnosis. Thus, this work aims to retrospectively study the influence of clinical orientation on the diagnostic yield of enzymatic tests in LSD by retrieving clinical, biochemical, and genetic data obtained from subjects with suspicion of LSD. Our results suggest that the clinical manifestations at the time of diagnosis and the initial clinical suspicion can have a great impact on the diagnostic yield of enzymatic tests, and that clinical orientation performed in specialized clinical departments can contribute to improve it. In addition, the analysis of enzymatic tests as the first step in the diagnostic algorithm can correctly guide subsequent confirmatory genetic tests, in turn increasing their diagnostic yield. In summary, our results suggest that initial clinical suspicion plays a crucial role on the diagnostic yield of confirmatory enzymatic tests in LSD.

Intervención grupal con adolescentes con epilepsia refractaria: programa terapéutico educativo / Intervenció grupal amb adolescents amb epilèpsia refractària: programa terapèutic educatiu / Group intervention with adolescents with refractory epilepsy: a therapeutic educational programme

Se presentauna intervención grupal terapéutico-educativa con adolescentes con diagnóstico de epilepsia refractaria en elque se trabajaron diferentes áreas psicológicas: personal, cognitiva, social y tiempo libre. La valoración se realizóa partir de la descripción clínica, el cuestionario SENA y la plataforma NEURONUP, valorando que una interven-ción específica ayuda a los pacientes a crear una mayor conciencia y capacidad de implicarse en los objetivos,permitiendo mejoras en su autoconcepto y autocuidado.(AU)

We presenta therapeutic-educational group intervention with adolescents diagnosed with refractory epilepsy in which diffe-rent psychological areas were worked on: personal, cognitive, social, and free time. The assessment was basedon the clinical description, the SENA questionnaire, and the NEURONUP platform, evaluating that a specific inter-vention helps patients to create greater awareness and capacity to become involved in the objectives, allowingimprovements in their self-concept and self-care.(AU)

Es presenta unaintervenció grupal terapèutica i educativa amb adolescents amb diagnòstic d'epilèpsia refractària en què es vantreballar diferents àrees psicològiques: personal, cognitiva, social i temps lliure. La valoració es va realitzar a partirde la descripció clínica, el qüestionari SENA i la plataforma NEURONUP i es va veure que una intervenció espe-cífica ajuda els pacients a crear una major consciència i capacitat d'implicar-se en els objectius, cosa que permetmillores en el seu autoconcepte i en la pròpia cura.(AU)