Neurodevelopmental Disorders Flashcards
Historical perspective
regarded as subhuman, a menace, object of dread
1870-1890 - objects of pity, burdens of charity, holy innocents
started to be viewed as a threat - eugenics movement
late 50s and 60s - people with ID viewed as able to learn
early medical model
dominated first have of 20th century
these people needed continuous medical care, were institutionalized
deinstitutionalization in 1960s - educational mainstreaming, community based services
intellectual disability DSM-5-TR
three criteria
deficits in intellectual functions - reasoning, problem solving
deficits in adaptive function - failure to meet standards for independence
onset of deficits during developmental period
conceptual domain of functioning
mild severity - difficulties in some academic skills, abstract thinking, functional use of academics skills, concrete approach to solutions
moderate severity - skills lag behind markedly, academic skill remains at elementary level, ongoing assistance needed
severe - attainment of conceptual skills is limited - little understanding
profound severity - conceptual skills involve physical world not symbolic processes
social domain of functioning
mild severity - immature in social interactions, difficulties regulating emotions, gullible
moderate severity - marked differences, much less complex, relationships with family and friends, don’t perceive social cues
severe - single words or phrases, focuses on present, simple speech and gestural communication
profound - may understand some simple instructions, express their own distress through nonsymbolic communication
practical domain of functioning
mild severity - need support with complex daily living tasks, recreational skills resemble those as age mates
moderate severity - can care for personal needs - eating, dressing, hygiene - requires teaching, maladaptive behaviour
severe - support for all daily activities and supervision at all times, maladaptive behaviour including self injury
profound - dependent on others in all aspect of daily physical care, maladaptive behaviour
identity and first person language
identity first - autistic individual, autistic
person first - person with autism
prevalence of intellectual disability
2% of general population
support services know of a substantially smaller portion
WHO - 3%
Canada - 0.78%
diagnostic issues in intellectual disabilities
intellectual functioning determined on basis of psychometric testing and IQ scores
categories based on IQ
mild - 50-55-70
moderate - 35-40-50
severe - 20-25-35
profound - less than 20
borderline - raised prevalence from 3-16%
cut off at 75 +-5
the challenges of assessing IQ
use of IQ tests has been the subject of considerable controversy - tests do not take into account sensory, motor, language deficits
test environment may not be familiar
measuring adaptive behaviour
use psychological assessment
adaptive behaviours
- communication
- daily living or personal living skills
- socialization skills
- motor skills
may also assess activities of daily living, challenging or maladaptive behaviours
interviewing strategies
cautious - families may give biased information - over estimate higher functioning - “cloak of competence”
acquiescence - tendency of those with D.D. to answer affirmatively in interviews - social desirability, language limitations
should use yes-no, forced choice, sometimes open ended
genetic causes of intellectual disability
down syndrome and fragile x - pieces of chromosomes are missing or duplicated - copy number variations
55-70% genetic cause for moderate-severe, 14% of mild
types of genetic inheritance
dominant - tuberous sclerosis, neurofibromatosis
recessive - phenylketonuria, Tay-sachs, galactosemia
x-linked - abnormal gene on X chromosome, generally recessive, so will operate only when it appears on both X chromosomes - Y chromosome cannot override - fragile x syndrome, Lesch-Nyhan syndrome
chromosomal abnormalities
down syndrome
- trisomy 21: 95%
- extra chromosome on pair 21, so 47 total chromosomes
1/700 births, 1/100 after age 40
translocation - part of 21st chromosome breaks off and attaches to another - 4%
mosaicism - uneven cell division, some cells have 45 chromosomes, some have 47
prenatal screening for chromosomal abnormalities
maternal serum screening - blood test 15-20 weeks - detects AFP - increased AFP indicates risk of abnormalitu
non-invasive prenatal testing - available from 9-10 weeks on
nuchal translucency - 10-14 weeks, measuring fluid - more fluid = more risk of abnormality
prenatal screening for chromosomal abnormalities 2
amniocentesis - 11-18 weeks - amniotic fluid withdrawn
chorionic villus sampling - obtains cells from placenta
circulating fetal DNA - tested for conditions, new technique
metabolic disorders - phenylketonuria
inborn error of metabolism
liver enzyme on chromosome 12 inactive - inability to process phenylalanine - can build up in brain and lead to ID
special diet for prevention - earlier start the better
metabolic disorders - other
congenital hypothyroidism - treated through hormone thyroxine
hyperammonemia - deficiency in enzyme that transforms ammonia
gauchers disease and hurlers disease = deficient enzymes
maternal infections
rubella - during first three months of pregnancy can lead to ID, visual defects, deafness, heart disease
HIV
developmental delays or disabilities occur in 75-90% of children with HIV who do not receive treatment
transmitted through delivery, breast milk
poor growth, delayed growth and development, cognitive delays, memory problems
fetal alcohol spectrum disorder - facial abnormalities
short eye openings, elongated flattened area between nose and mouth, thin upper lip, flattened cheeks and nasal bridge
fetal alcohol spectrum disorder - prevalence
1-3/1000 live births
2-3% of elementary school children
globally - 8/1000 children, 1/13 women who consume alcohol during pregnancy give birth to a child with FASD
fetal alcohol spectrum disorder - deficits
in cognitive and executive functioning that last a lifetime
behavioural challenges, impulse control, ADHD, social difficulties
binge drinking particularly significant impact
secondary disabilities - poor judgement, inappropriate sexual behaviour, drug problems, delinquency into adulthood
other drugs
anticonvulsant ditalin, chemotherapy, hormone therapy - teratogenic effects - facial anomalies, malformed limbs, risk of later cancer
thalidomide and congenital limb deficiency
birth related causes
extreme prematurity, lack of oxygen, prolonged or complicated labour - visual deficits, cerebral palsy, speech and learning difficulties