Neurodevelopmental disorders of the brain

17 important questions on Neurodevelopmental disorders of the brain

What are critical periods?

Different synaptic pathways in the brain connect at different developmental timepoints.

For what are critical periods key?

Experience dependent sensory processing
Correction of some sensory impairments

What are neurodevelopmental disorders?

Impairment in the growth and neurotypical pattern of maturation of the CNS
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What has a high comordity along asd?

Intellectual disability and epilepsy

What are underlying causes of neurodevelopmental disorders?

Immune disorder/infections
Brain trauma & physical injury
Metabolic disorder & nutritional factors
Toxins & environmental conditions
Genes- chromosomal abnormalities

What is valproic acid and how can it influence neurodevelopment?

Anti epileptic drug, increases the risk of autism 3 fold

How many genes are linked to ID and asd?

450 to ID
And 400-1000 genes to asd

What is a hallmark pattern in neurodevelopmental disorders?

Changes in synaptic morphology

What are immature spines like and mature?

Filopodia are long and thin spines more mature spines are mushroom shaped

Where do many genes underlying ndds act upon?

F-actin and cytoskeletal morphology

What are the three biological functions of synapses?

1. Synaptic processing
2. Cytoskeletal/structural proteins
3. Translational/transcription of new proteins

What do the presynaptic ID genes do?

Regulate different steps in presynaptic vesicle release

What do postsynaptic ID genes do?

These ID genes regulate signalling cascades, cytoskeleton regulators and production of new proteins via transcription and translation

What are characteristics of the fragile x syndrome?

Long face, large ears, flat feet
Hyperextensible joints
Low muscle ton
Macroorchidism

To what gene is fragile x syndrome linked to?

Monogenic x-linked to fmr1 gene

What is mGlur theory?

Glutamatergic synaptic activation results in a missing brake on local protein synthesis(FMRP)

What are the two main hypotheses for NDD's?

1. brain connectivity is altered in these disorders(think of immature spines)
2. Developmental delays: critical period brain disorders

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