Alberto Alcantud – Page 17 – 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…

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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...

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Differential development trajectories of MPs.

MPS-I (Hurler) MPS-I, also known as Hurler disease, is a serious genetic condition that belongs to the family of progressive demyelination diseases. This disorder is caused by deficiency of the enzyme alkaline glucosidase (GAA), which is crucial for the breakdown of molecules called heparan sulfates. The accumulation of heparan sulfates…

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Tuberous Sclerosis.

Tuberous Sclerosis Tuberous sclerosis is a neurocutaneous disease characterized by significant involvement of the central nervous system (CNS) and an increased risk of suffering from tumors and involvement of other organs. Early Phenotype Tuberous sclerosis can manifest early with various alterations, such as those visualized in images 1 and 2 (Figures 1 and...

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Non-pharmacological treatment of ADHD.

Introduction to ADHD Attention-Deficit/Hyperactivity Disorder (ADHD) is a chronic neurological condition characterized by difficulties in attention regulation and motor control. It affects approximately 5% of children and adolescents and persists into adulthood in about 30% of cases. Pathophysiological Understanding of …

Continue reading «Tratamiento no farmacológico del TDAH.»

Syndromic neurodevelopmental disorders. Keys to diagnosis.

Warning symptoms of ASD.

Warning Signs and Red Flags of ASD in Childhood Early detection of Autistic Spectality Disorder (ASD) is crucial to implementing effective early interventions. The following warning signs should be closely monitored: At 6 months: Absence of social smiling, limited facial expression, or lack of constant eye contact. At…

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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...

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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...

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