intellectual disability✅

Intelligence

General mental capability

Black box

hidden layers of processing that lead to output in Brain or AI

Intellectual Disability

Failure to develop normal cognitive skills

Cognitive skills

language, activity of daily living, learning and memory

de novo

sporadic mutation

Neurodevelopmental Disorders

a group of conditions that are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning

Genetic Neurodevelopmental Continuum

ID, ASD, ADHD, Schizophrenia, Bipolar disorder

3%

Percent of population ID affects

Developmental milestones

points at which specific skills are acquired in a fairly predictable order

Psychometric testing

the activity of using tests that are designed to show someone's personality, mental ability

Intellectual Quotient (IQ)

a score derived from intelligence tests that theoretically represents a person's overall intellectual capacity

Nonverbal IQ

performance intelligence that is often assessed through testing that involves speeded processing during the manipulation of novel stimuli

Verbal IQ

information, digit span, vocabulary, arithmetic, comprehension, similarities

Alfred Binet

Created first intelligence test for determining mental age

70

IQ value for classification of ID

Malformation of Brain

MRIs for individuals with ID are looking for

Genomic wide approches

genetic testing for ID that is used when no specific gene of interest is being looked for

Comparative genomic hybridization

tests for copy number variation

Next Generation Sequencing

tests for single base pair changes

Gene specific testing

used when specific genetic disorder suspected ex. fragile X + Rett Syndromes

Mutation Load

accumulation of this increases phenotypic complexity

Down syndrome

most common ID cause, trisomy 21, no treatment

Syndrome

a group of symptoms and signs

genetic defects

ID is increasingly linked to

Fragile X syndrome

A genetic disorder involving an abnormality in the X chromosome. Can cause epilepsy, visuospatial memory defects and autism symptoms

Large Head and Ears

dysmorphic features associated with fragile X syndrome

6-44

Normal number of CGGn repeats

200

number of CGGn repeats in FXS

immature (long/thin)

FXS synapses are abnormal because dendrites are

Rett Syndrome

Neurodevelopment of child (girl, as boys die in utero) fails between age 1-4, with poor head growth, apraxia, and motor deficits

MeCP2

gene is associated with Rett Syndrome via epigenetic processes

Epigenetics

change in expression of dna via packing and methylation

FOXG1

Gene deletion also associated with Rett syndrome symptoms

Stimulants

drugs to treat ADHD

SSRIs

drugs to treat anxiety + depression

Antipsychotics

drugs to treat behavioural issues

acute

some defects associated with ID are _ and genetic treatment would be beneficial

85%

Flies share what percent of DNA with humans

Traditional drug discovery

ID gene, Experiment in Model animal, test new drug in clinical trial (human)

human genomic data

can be used to compare patients to controls and compare severity