Alberto Alcantud – Page 16 – Neuropediatoolkit

Developmental trajectory of MLD (metachromatic leukodystrophy).

Metachromatic Leukodystrophy (MLD): Developmental Trajectories Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease characterized by deficiency of the enzyme arylsulfatase A (ARSA), causing the accumulation of sulfatides and progressive demyelination of the central and peripheral nervous system. Clinical Forms and Late Childhood Trajectory (typical): It manifests between the first…

Continue reading «Trayectoria de desarrollo de la MLD (leucodistrofia metacromática).»

CLN development trajectories.

Neuronal Ceroid Lipofuscinosis (CLN): Developmental Trajectories Ceroid neuronal lipofuscinosis (CLN), commonly called Batten disease, group together a set of rare lysosomal-based neurodegenerative disorders characterized by the intralysosomal accumulation of fluorescent ceroid lipofuscin material. Common Path of Symptoms Progressive and rapid loss of visual acuity leading to blindness (to...

Continue reading «Trayectorias de desarrollo de las CLN.»

Differential development trajectories of MPs.

Tuberous Sclerosis.

Tuberous sclerosis is a neurocutaneous disease with special involvement of the CNS, which is associated with an increased oncological risk and involvement of other organs and systems.

Non-pharmacological treatment of ADHD.

Syndromic neurodevelopmental disorders. Keys to diagnosis.

Warning symptoms of ASD.

Signos de Alarma y Banderas Rojas de TEA en la Infancia La detección precoz del Trastorno del Espectuality Autista (TEA) es crucial para implementar intervenciones tempranas eficaces. Se deben monitorizar estrechamente las siguientes señales de alerta: A los 6 meses: Ausencia de sonrisa social, expresión facial limitada o falta de contacto ocular constante. A los …

Continue reading «Síntomas de alarma de TEA.»

Education based on the evidence.

For a critical evaluation of educational methods and scientific evidence for different treatments and therapies applicable to children with cognitive difficulties, you can consult: https://situsupierass.wordpress.com/ https://delaevidenciaalaula.wordpress.com/

Network of associations of Camp de Morvedre.

Associative Network in the Camp de Morvedre Region The Camp de Morvedre region has a collaborative structure of associations aimed at inclusion, family support and therapeutic intervention for minors with functional diversity and neurodevelopmental needs. This network facilitates access to local therapeutic clinics, adapted recreational resources and channels of...

Continue reading «Red asociativa del Camp de Morvedre.»

Questionnaires quantification of symptoms of ADHD.

Standardized questionnaires for quantifying ADHD symptoms are an indispensable daily tool to evaluate the necessity and adequacy of pharmacological treatment. An optimal treatment will be one that achieves the best symptomatic benefit with the least presence of adverse effects. Summary of diagnostic tools available in the...

Continue reading «Cuestionarios de cuantificación de síntomas de TDAH.»