Neurodevelopmental Disorders Flashcards
Neurodevelopmental disorders
A group of disorders that affect the development of the nervous system leading to abnormal brain function which may affect emotion, learning, ability, self-control, and memory
ASD
are a group of developmental disabilities that cause significant social, communication, and behavioral challenges.
Three core deficits of ASD
- Impaired social interaction
- Impaired language and communication
- Repetitive and stereotypical behaviors and severely restricted interests
ASD treatment options
-focuses on reducing symptoms
-behavioral interventions: undertaken early in life, intensive delivery format, gold-standard treatment for behavioral symptoms associated with ASDs
-Medications: Risperidone: adult antipsychotic treatment of irritability and aripiprazole
Mind blind hypothesis
Inability of mentalizing in ASDs is associated with impaired neural circuits underlying social cognition
Anatomy of ASD
- social: fronto-temporal and frontoparietal regions, amygdala
-communication: basal ganglia, cerebellum, thalamus, motor area
Repetitive behavior: basal ganglia, thalamus
Early brain overgrowth in ASD during early childhood
The brain of ASD patients is larger in volume than the brain of typically developing children, suggesting an atypical trajectory of maturation
Dendritic Spine pathology in ASF
In ASD, exaggerated spine formation or incomplete pruning may occur in childhood leading to increased spine numbers
What is some evidence of defects in synaptic pruning in ASD brains
Increased dendritic spine density in pyramidal neurons of the temporal lobe
Twin studies in ASD
Establish the importance if genetics in autism
Fragile X syndrome
Leading monogenjc cause of intellectual disability and autism
Cause of fragile X syndrome
Mutations in the fragile X mental retardation 1 gene that is located in the X chromosome
Abnormality in FMR1 Gene
-A trinucleotide repeat expansion (>200 CGG) within the 5’ untranslated region if the FMR1 gene causes hypermethylation and transcriptional silencing
FMRP protein
-RNA binding protein that shuttles between the nucleus and cytoplasm of neuronal cells
-involved in the transport of mRNAs and their translation to synapses
-FMRP can also be involved in the nuclear RNA interference pathway that is associated with non-coding RNAs to suppress gene expression
Altered synaptic pruning without FMRP
FMRP regulates the synthesis of structural proteins or signaling proteins that are important for stabilizing and maturing developing synapses