Category archives: Neurological diseases
Developmental trajectory and stages of Rett syndrome.
Rett syndrome, a neurodevelopmental disorder linked to the X chromosome (MECP2 gene), typically progresses through four defined clinical stages that mark its developmental trajectory:
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...
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.
Warning Signs and Red Flags of ASD in Childhood Early detection of Autism Spectrum Disorder (ASD) is key 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…
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.»