What do you need to do?
Clinical method. What should I do?
Diagnosis and diagnostic criteria. How should I do it?
I don't have an etiological diagnosis. Where should I begin?
- When should I suspect a genetic disease?
- When should I suspect an inborn error of metabolism?
- I would like to know which treatable disorders should be excluded in a child with developmental delay.
- Rare diseases that can be diagnosed by simple tests?
- Pruebas diagnósticas no dirigidas, ¿por donde empezamos?, evidencia actual del exoma como primer escalón diagnóstico.
- Protocolo de reevaluación de VSI.
- Pulling the rope. What to do when a diagnosis is not reached.
I already have an etiological diagnosis. What next?
- I would like to follow a child with a known neurogenetic condition and I need to know its specific health surveillance.
- I would like to inform the parents of a child with a microdeletion or microduplication syndrome.
- ¿Cosegregación, debo solicitarla?
- Down syndrome health program.
- Health program for the high risk newborn.
- Health program for the late preterm (32-36 GW).
I find difficulties in understanding a diagnostic test.
- Radiologic.
- Metabolic.
- EEG.
- Psychometric tests.
- Genetic.
- No entiendo un informe de secuenciación NGS.
- No conozco para que sirven las distintas tecnologías genéticas.
- No conozco las tecnologías de secuenciación NGS disponibles en la actualidad.
- I would like to check the pathogenicity classification of a CNV from a CGH report.
- I woult like to theck the pathogenicity classification of a SNV from a NGS sequencing report.
I have difficulties in an administrative procedure.
Treatments, therapies and pseudotherapies.
- Early intervention services. Who should I refere and who shouldn't?
- Health speech therapy. Who should I refer and who shouldn't?
- Neurorrehabilitation of acquired brain damage. Who should i refer and who shouldn't?
- Non pharmacological therapeutical resources for neurodevelopmental disorders.
- Clinical trials
- Drugs.
- Pseudotherapies.
Pediatric side of neurological disorders.
- I would like to perform a nutritional assessment in a child with a neurological disorder.
- Adolescence and neurological disorders.
- Vaccines in neurological patients.
- Palivizumab in children with neurological disorders.
- Health protocol for patients with pica.
- Systemic diseases associated with neuropediatric disorders.
- Palliative care.
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