Neurodevelopmental Disorders Flashcards

1
Q

Historical perspective

A

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

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2
Q

early medical model

A

dominated first have of 20th century

these people needed continuous medical care, were institutionalized

deinstitutionalization in 1960s - educational mainstreaming, community based services

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3
Q

intellectual disability DSM-5-TR

A

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

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4
Q

conceptual domain of functioning

A

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

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5
Q

social domain of functioning

A

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

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6
Q

practical domain of functioning

A

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

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7
Q

identity and first person language

A

identity first - autistic individual, autistic

person first - person with autism

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8
Q

prevalence of intellectual disability

A

2% of general population
support services know of a substantially smaller portion

WHO - 3%

Canada - 0.78%

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9
Q

diagnostic issues in intellectual disabilities

A

intellectual functioning determined on basis of psychometric testing and IQ scores

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10
Q

categories based on IQ

A

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

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11
Q

the challenges of assessing IQ

A

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

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12
Q

measuring adaptive behaviour

A

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

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13
Q

interviewing strategies

A

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

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14
Q

genetic causes of intellectual disability

A

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

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15
Q

types of genetic inheritance

A

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

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16
Q

chromosomal abnormalities

A

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

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17
Q

prenatal screening for chromosomal abnormalities

A

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

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18
Q

prenatal screening for chromosomal abnormalities 2

A

amniocentesis - 11-18 weeks - amniotic fluid withdrawn

chorionic villus sampling - obtains cells from placenta

circulating fetal DNA - tested for conditions, new technique

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19
Q

metabolic disorders - phenylketonuria

A

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

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20
Q

metabolic disorders - other

A

congenital hypothyroidism - treated through hormone thyroxine

hyperammonemia - deficiency in enzyme that transforms ammonia

gauchers disease and hurlers disease = deficient enzymes

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21
Q

maternal infections

A

rubella - during first three months of pregnancy can lead to ID, visual defects, deafness, heart disease

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22
Q

HIV

A

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

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23
Q

fetal alcohol spectrum disorder - facial abnormalities

A

short eye openings, elongated flattened area between nose and mouth, thin upper lip, flattened cheeks and nasal bridge

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24
Q

fetal alcohol spectrum disorder - prevalence

A

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

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25
Q

fetal alcohol spectrum disorder - deficits

A

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

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26
Q

other drugs

A

anticonvulsant ditalin, chemotherapy, hormone therapy - teratogenic effects - facial anomalies, malformed limbs, risk of later cancer

thalidomide and congenital limb deficiency

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27
Q

birth related causes

A

extreme prematurity, lack of oxygen, prolonged or complicated labour - visual deficits, cerebral palsy, speech and learning difficulties

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28
Q

psychosocial disadvantage

A

poverty, nutrition, large family size, lack of structure - contributing factors

if given little opportunity to practice cognitive skills - may not develop as rapidly

more likely to come from disadvantaged families - poverty is a major risk factor

29
Q

prevention and early intervention programs

A

can significantly improve outcomes

encouragement of curiosity, organizational assistance, positive reinforcement, skill rehearsal

30
Q

down syndrome physical features

A

short stature, epicanthic fold over skin over inner corner, wide and flat nose bridge, stubby hands and fingers, large protruding tongue, poor muscle tone

31
Q

down syndrome health issues

A

congenital heart disease, gastrointestinal abnormalities, congenital cataracts

risk for developing alzheimers - half of adults over 50 have dementia symptoms, dementia associated with mortality in 70% of this group

32
Q

down syndrome intellectual impairment

A

intellectual impairment ranges from mild to severe - most is mild-moderate

difficulties in expressive language

delayed nonverbal cognitive development, deficits in verbal abilities and auditory short term memory

33
Q

down syndrome treatment

A

early intervention and education - contributes to adaptive functioning

antibiotics to reduce infections

34
Q

fragile x syndrome

A

weakened or fragile site on X chromosome

FMR-1 gene larger

more than 200 repeats of cytosine and guanine instead of 6-50

35
Q

fragile x and intellectual disability

A

after down syndrome, most common hereditary cause

males - weaknesses in sequential processing of information in a particular order

females - 1/3 experience mild intellectual disability - attention, short term memory, planning, problem solving, math

36
Q

fragile x prevalence

A

approx 1/200 females affected

1/700-1/1000 males

37
Q

fragile x facial features

A

high forehead, elongated face, large jaw, underdeveloped earls, enlarged testes in males

characteristics less pronounced in carrier females

38
Q

fragile x expressive language

A

males
jocular, staccato, perseverative, sing songy speech

problems with communication and socialization

15-50% males meet criteria for autism

39
Q

family well being and neurodevelopmental disorders

A

families of those with disabilities experience more stress

use coping strategies like positive reframing or reappraisal of experiences

40
Q

deinstitutionalization and community integration or inclusion

A

changing views led to thousands with disabilities and the provision of community based services

41
Q

evaluating quality of life

A

three components
- being in physical, physiological, and spiritual domains
- belonging in physical, social, community environments
- becoming, focusing on strategies to achieve hopes and goals

42
Q

challenging behaviours and dual diagnosis

A

diagnostic overshadowing - perceiving mood changes or maladaptive behaviours to be solely a function of the developmental disorder might cause real psychiatric disorders to be missed

3-4x risk of developing schizophrenia, bipolar, anxiety

43
Q

dual diagnosis

A

co-occurrence of serious behavioural or psychiatric disorders in people with intellectual disabilities

40%

many are taking medication, CBT is helpful

44
Q

offending behaviour and dignity of risk

A

dignity of risk - right of individuals to choose to take some risk in engaging in life experiences and the consequences associated with that risk

offenders with ID - 15-30%

45
Q

autism spectrum disorder

A

persistent deficits in social communication across multiple contexts - reciprocity, nonverbal, relationships

restricted, repetitive behaviour - motor movements, insistent on sameness, fixated interests, odd reaction to sensory input

symptoms present in early developmental period, impairment in functioning, not explained by something else

46
Q

severity levels in autism

A

level 1 - requiring support

level 2 - requiring substantial support

level 3 - requiring very substantial support

47
Q

autism prevalence

A

canadian estimates 1-3/1000

united states 1/68

higher estimates may reflect changes in diagnostic criteria

3-4x more often in males with high IQs - no difference in low IQs

48
Q

social interaction

A

social difficulties and responses to the environment

without expressive language do not use nonverbal signals

infants show little interest in face and eye contact

49
Q

verbal and nonverbal communication

A

mute or minimally verbal, often do not communicate meaningfully, abnormal tone

echolalia - repeat phrases or words back to someone

pronoun reversal - refer to selves in third person

50
Q

behaviour and interests

A

hand flapping, rocking, repetitive movements - cope with environment

spinning or tapping objects in repetitive and nonfunctional way

51
Q

autism and intelligence

A

44% function in average range of intelligence

savants - exceptional ability in math, music, art, memory

52
Q

assessment of autism

A

multidisciplinary team - psychologist, psychiatrist, speech and language specialist, occupational therapist, teacher

ADI-R - structured 90 min interview

ADOS-2 - standardized observational measure with different activities

53
Q

autism etiology

A

genetic factors play a dominant role

25% cases have genetic cause in form of copy number variation

54
Q

camouflaging and autism

A

masking
modify or hide behaviour to conform to what be be considered socially acceptable

learned scripts

associated with higher depression and anxiety, missed diagnoses - girls

55
Q

medications and autism

A

none specifically for autism

antidepressants for perseverative behaviour

antipsychotics for hyperactivity, impulsivity, irritability, aggression

used to regulate neurotransmitters

56
Q

behavioural interventions for autism

A

focus on cognitive, communication, behavioural challenges

develop self help skills, language, social interaction, academics, reducing maladaptive behaviour

57
Q

positive and proactive interventions

A

reductions in behaviours in 80-90% of cases

58
Q

applied behavioural analysis and early intensive behavioural intervention

A

75-95% developed useful speech by age 5

many speaking out about trauma endured in these programs - pressure to conform

59
Q

naturalistic developmental behavioural interventions

A

therapeutic processes, use natural contingencies, teach developmentally appropriate skills

60
Q

learning disorders historical perspective

A

1887 - dyslexia term coined from impaired word

congenital wordblindness

belief that those with dyslexia perceived letters backwards - its a core deficit in phonological processing

61
Q

learning disorder diagnostic criteria

A

disruption to normal pattern of explicit learning of academic skills

at least one of
inaccurate or slow reading, hard to understand what is read, difficulties with spelling, difficulties with written expression, difficulties mastering number sense, number facts, problems with mathematical reasoning

62
Q

controversy in learning disorder diagnosis

A

no universal agreement

DSM5 generally unhelpful - no info on how learning is impaired, no indicators for remediation

63
Q

learning disorder with reading impairment

A

dyslexia
trouble discerning if words rhyme, unable to count syllables, syllable stress, may struggle to delete individual speech sounds

64
Q

learning disorder with impairment in maths

A

dyscalculia
inability to process numerical quantities, judgements about quantity and reasoning

core deficits in working memory

low math performance may reflect factors like anxiety about performance or math avoidance

65
Q

learning disorder with impairment in written expression

A

dysgraphia
impairments in mechanical act of writing - associated with visual motor skills
or in composing text - associated with deficits in processing speed, working memory, executive functioning

66
Q

learning disorder prevalence

A

persistent and continue over the lifespan
specific learning disorders 9/7%
reading disorders 5-17% school aged - most common - 80%
maths 6-7%

more boys than girls in reading disorders

67
Q

learning disorder etiology

A

dyslexia - familial and hereditary
50-60% heritability for reading
50-67% heritability for math

68
Q

relationship between learning disorders and mental health

A

high likelihood of co-occurring mental health disorders and behavioural difficulties - 2-3x

ADHD and ASD and LD

75% students with LD have lower social competence than comparisons

69
Q

learning disorder interventions

A

phonemic awareness, phonics, vocabulary development, reading fluency, reading comprehension strategies

reading strategies taught to at risk children

non responders likely to be diagnosed with LD