Chapter 5: neurodevelopmental disorders with a focus on intellectual disability

phenotypes

• the expression of the genetic program in the individuals physical psychological attributes

• the gene environment interaction is known as the phenotype

behavioural phenotype

• pattern of behaviour that is consitently associated with specific genotype

chromosome abnormalities

• the most commonly known cause of moderate to severe intellectual disability

• most common chromosome abnormality is down syndrome

down syndrome:prevalence

• decreased from 1/700 to 1/1000 live births over the past 2 decades

trisomy 21

• a mothers 2 chromosomes joins with a single 21st chromosome from the father called a nondisjunction

down syndrome: physical phenotype

• small skull

• flat-looking face

• broad neck

• broad square head

• small ears and mouth

• protruding tongue

• almond shape eyes

down syndrome: some medical issues

• congenital heart defects

• hearing loss

• dental conditions

• obesity

• orthopedic abnormalities

• skin conditions

down syndrome: cognitive

• intellectual disability

• delay in sensory-motor skills

• strength-visual-spatial skills

• understanding and speaking

• ex. puzzles, using coordinated movements

down syndrome: behavioural phenotypes

• amicable nature, some stubbornness

• a keen sense of the ridiculous

• excellent memory

• positive affect and highly sociable

• less persistence at a task: how would you work on this?

  • motivation

  • not just apparent with DS

matthew Schwab video

• speaker with down syndrome

• wants people to see him not jsut for his down syndrome but for who he is as a person

neurodevelopmental disorders

• conditions that begin in childhood and have a major impact on social and cognitive functioning

• the challenges associated with these disorders including impairments in personal, social, academic or occupational functioning

intellectual disability has replaced mental retardation

• DSM-5-TR uses the term intellectual disability

intellectual disability

• neurodevelopmental disorder

three defining pieces of a intellectual disorder

• significant limitations in mental/intellectual abilities

  • ex. planning, reasoning, judgement, problem solving

• group of conditions that produce a series of challenges regarding adaptive functioning including skills in everyday life

• early onset or occurrence with developmental period

further look at IQ

• general intellectual functioning: defined by an intelligence quotient

  • based on assessment of one or more standardized tests

  • where the individual should fall and where they actually fall

  • intelligence is a construct which is comprised of verbnal and non-verbal reasoning

intellectual disability

• relative to a person’s age and cultural group, this exceptionality also involves challenges in a variety of daily life activities such as communication, social, participation and independent living

intellectual developmental disorder

• the degree of severity is assigned by the clinician

  • mild

  • moderate

  • severe

  • profound

  • in DSM-5 the levels of severity are based on how well the individual is able to adapt in conceptual, social and practical domains

conceptual skills

• challenges in receptive language (ex. difficulty understanding others)

• needing to work more on understanding others

• challenges in expressive language (difficulty expressing thoughts clearly)

• understanding the values of money (coins,bills) and their function

• self-directions (motivation, self-regualtory activities, adaptability)

social skills

• interpersonal skills

• self-esteem

• responsibility

• following rules

practical skills

• eating, dressing, toileting

• one with an ID may need assistance in performing these skills

• taking medication

• daily functional living skills fall in this domain

• being practical for the skills children need to learn and perform

• ex. is unloading the dishwasher a practical goal for a 7 year old?

adaptive functioning

• there may be some discrepancies between IQ and adaptive functioning

• some children learn to adapt quite successfully

prevalence

• is 1% and is higher in countries with lower incomes

information about mild ID

• accounts for 85% of people with ID

• identification usually occurs in elementary school years

• better to see the child and how they act in their environments in early years

• there are resource constraints for children

  • if you know your child is struggling you can get them help

  • there needs to be more support

information about moderate ID

• about 10% of persons with ID

• identification in the early preschool years

• related to down syndrome because it is typically a moderate ID

• intervention in multiplied domains including prevocational and vocational training skills

• the earlier the better

• emphasis on practical skills

  • dressing yourself

  • self-care

  • laundry

  • taking garbage out

severe and profound ID

• prevalence and cause

• identified at very young age

• very limited receptive and expressive language

• need special assistance throughout their lives

• what does intervention look like?

  • matching skills

  • lecture example of the cylinders and the boxes with replication

  • assessment of basic learning abilities test

dyscalculia

• a pattern of difficulties in number sense, ability to learn arithmetic, facts and calculation

echolalia

• repetition of the same sounds over and over

mainstreaming

• a governmental policy to integrate fully into social people with cognitive disabilities

naturalistic develoemtnal behavioural interventions (NDBI)

• a behavioural approach for autism spectrum disorders in which teachers or other interventionist can shape the child’s behaviour in the course of ordinary play or instruction

phenylketonuria (pku)

• condition in which children are born missing an enzyme called phenylalanine hydroxase

social pragmatic communication disorder

• disorder involving deficits in the ability to use verbal and nonverbal communication in relating to others

speech sound disorder

• a communication disorder in which the individual substitutes, omits, or misarticulates speech sounds

stereotypic movement disorder

• a disorder in which the individual engages in in repetitive, seemingly driven nonfunctional behaviour

teratogens

• environmental hazards mothers experience while pregnant that affect the developing child

tic

• a rapid recurring, nonrhythmic and involuntary movement or vocalization

tourettes disorder

• a disorder involving a combination of chronic motor and vocal tics

disorders that begin early in life and remain with the individual throughout life are known as

neurodevelopmental disorders

a child that has been diagnosed with intellectual disability has no understanding of symbolic communication in speech or gesture. most likely he would be rated as having blank inability to engage in social interaction

profound

environmental hazards that are secondary causes of intellectual disabilities (including drugs, toxic chemicals, malnutrition) are called

teratogens

which foods and artificial ingredients with amino acids should be avoided due to the risk of developmental delays and attention-deficit/hyperactivity disorder for babies with PKU?

• aspartame

• milk

• eggs

what are 2 domains that are evaluated to diagnose autism spectrum disorder?

• the individuals interest and behaviour

• disturbances in social relationships and communication