NEUR 3502 Lecture Notes - Lecture 18: Pervasive Developmental Disorder, Neurodevelopmental Disorder, Intellectual Disability
15 Jul 2020
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Document Summary
If mutated mecp2 gene = impaired function of mecp2 protein: member of the methyl-binding protein family. Increased expression of mecp2 in the cortex with age: suggested that see so much in the mature brain= more significant impact as the person ages (see deterioration) Monoamine hypothesis of rtt- not unified hypothesis yet synaptogenesis. Inappropriate timing of mecp2 activity and high levels of glutamate: hyper-excitability of vast number of neurons in the brain, treatment and management of rtt, no cure has been identified, several factors must be considered: Latency of disease onset: accurate diagnosis, misdiagnosis common . Lost language skills: male rtt patients appear to die early, ~18 months 3 years, controversy . Is rtt an autistic spectrum disorder: current tendency to use autistic spectrum disorder (asd) to replace pervasive. Developmental disorder (pdd) : no agreed upon definition for asd, but both rtt and asd fall under pdd , gene therapy (?)
