Neurodevelopmental Disorders Flashcards

(69 cards)

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
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
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other drugs
anticonvulsant ditalin, chemotherapy, hormone therapy - teratogenic effects - facial anomalies, malformed limbs, risk of later cancer thalidomide and congenital limb deficiency
27
birth related causes
extreme prematurity, lack of oxygen, prolonged or complicated labour - visual deficits, cerebral palsy, speech and learning difficulties
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psychosocial disadvantage
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
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prevention and early intervention programs
can significantly improve outcomes encouragement of curiosity, organizational assistance, positive reinforcement, skill rehearsal
30
down syndrome physical features
short stature, epicanthic fold over skin over inner corner, wide and flat nose bridge, stubby hands and fingers, large protruding tongue, poor muscle tone
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down syndrome health issues
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
down syndrome intellectual impairment
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
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down syndrome treatment
early intervention and education - contributes to adaptive functioning antibiotics to reduce infections
34
fragile x syndrome
weakened or fragile site on X chromosome FMR-1 gene larger more than 200 repeats of cytosine and guanine instead of 6-50
35
fragile x and intellectual disability
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
fragile x prevalence
approx 1/200 females affected 1/700-1/1000 males
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fragile x facial features
high forehead, elongated face, large jaw, underdeveloped earls, enlarged testes in males characteristics less pronounced in carrier females
38
fragile x expressive language
males jocular, staccato, perseverative, sing songy speech problems with communication and socialization 15-50% males meet criteria for autism
39
family well being and neurodevelopmental disorders
families of those with disabilities experience more stress use coping strategies like positive reframing or reappraisal of experiences
40
deinstitutionalization and community integration or inclusion
changing views led to thousands with disabilities and the provision of community based services
41
evaluating quality of life
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
challenging behaviours and dual diagnosis
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
dual diagnosis
co-occurrence of serious behavioural or psychiatric disorders in people with intellectual disabilities 40% many are taking medication, CBT is helpful
44
offending behaviour and dignity of risk
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
autism spectrum disorder
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
severity levels in autism
level 1 - requiring support level 2 - requiring substantial support level 3 - requiring very substantial support
47
autism prevalence
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
social interaction
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
verbal and nonverbal communication
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
behaviour and interests
hand flapping, rocking, repetitive movements - cope with environment spinning or tapping objects in repetitive and nonfunctional way
51
autism and intelligence
44% function in average range of intelligence savants - exceptional ability in math, music, art, memory
52
assessment of autism
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
autism etiology
genetic factors play a dominant role 25% cases have genetic cause in form of copy number variation
54
camouflaging and autism
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
medications and autism
none specifically for autism antidepressants for perseverative behaviour antipsychotics for hyperactivity, impulsivity, irritability, aggression used to regulate neurotransmitters
56
behavioural interventions for autism
focus on cognitive, communication, behavioural challenges develop self help skills, language, social interaction, academics, reducing maladaptive behaviour
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positive and proactive interventions
reductions in behaviours in 80-90% of cases
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applied behavioural analysis and early intensive behavioural intervention
75-95% developed useful speech by age 5 many speaking out about trauma endured in these programs - pressure to conform
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naturalistic developmental behavioural interventions
therapeutic processes, use natural contingencies, teach developmentally appropriate skills
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learning disorders historical perspective
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
learning disorder diagnostic criteria
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
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controversy in learning disorder diagnosis
no universal agreement DSM5 generally unhelpful - no info on how learning is impaired, no indicators for remediation
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learning disorder with reading impairment
dyslexia trouble discerning if words rhyme, unable to count syllables, syllable stress, may struggle to delete individual speech sounds
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learning disorder with impairment in maths
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
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learning disorder with impairment in written expression
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
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learning disorder prevalence
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
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learning disorder etiology
dyslexia - familial and hereditary 50-60% heritability for reading 50-67% heritability for math
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relationship between learning disorders and mental health
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
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learning disorder interventions
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