Recent Articles
Miglustat
Overview Generic Name: Miglustat Trade Name: Zavesca Drug Class: Substrate reduction therapy (SRT); glucosylceramide synthase inhibitor…
Niemann–Pick Disease (NPD)
Definition: Niemann–Pick Disease is a rare, inherited lysosomal storage disorder characterized by an abnormal accumulation of…
Infantile Spasms: Treatment
Treatment Goals Short-Term Goals: Eradication of Epileptic Spasms. Resolution/prevention of hypsarrhythmia. Early achievement of these…
Vigabatrin for Infantile Spasms
Role of Vigabatrin Indication: Approved treatment for infantile spasms, especially in TS-associated IS. Mechanism of Action: Inhibits…
Alexander Disease
Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate…
Bromides
Introduction Nature and Origin: Bromide is an inorganic ion similar to chloride. Naturally present in the environment, especially in…
Augmentative and Alternative Communication (AAC)
Definition and Purpose AAC provides alternative methods of communication for individuals with severe speech impairments or lack of speech.…
Aphasia/Dysphasia
Aphasia/Dysphasia Acquired disruption of language function (expressive or receptive/mixed). Can be fluent or non-fluent. Causes: Brain…
Posterior Fossa Syndrome (PFS)
Definition and Overview Posterior Fossa Syndrome (PFS): A constellation of neurological and behavioral symptoms occurring in children…
Acquired Dysarthria
Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt…
The Journey of Discovery: Unraveling Fragile X Syndrome
Fragile X Syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, is now a well-recognized condition. However, its discovery and understanding were long journeys marked by scientific curiosity, serendipity, and technological…
