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MCN 109 Midterms > Nervous System Cognitive Disorders > Flashcards

Nervous System Cognitive Disorders Flashcards

1
Q

Mental Retardation

A
  • also referred to as intellectual disability
  • substantial intellectual delay which requires environmental or personal supports to live independently
  • intellectual functioning level (IQ) is below 70-75
  • present from childhood
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2
Q

Mild Mental Retardation

A

50-70 IQ

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3
Q

Moderate Mental Retardation

A

35-55 IQ

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4
Q

Severe Mental Retardation

A

20-40 IQ

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5
Q

Profound

A

below 20 IQ

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6
Q

Fragile X

A
  • most common inherited cause of MR
  • identified as break or weakness on the long arm of X sex chromosome
  • usually affect males, carried females
  • found in genes’ DNA components
  • treatment includes speech, occupational and physical therapy
  • physical features: enlarged ears, long face, and connective tissue problems
  • behavioral characteristics: attention deficit disorders, speech disturbance, hand biting or flapping, poor eye contact and aversion to touch and noise
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7
Q

Fragile X Symptoms

A
  1. intellectual disability
  2. autism spectrum disorders
  3. abnormal facial features
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8
Q

Mild Intellectual Disability

A
  • 50-70 IQ
  • has important relationships
  • may learn to read and write
  • travels independently (need help with money and organizing daily life)
  • hard to compute
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9
Q

Moderate Intellectual Disability

A
  • 35-50 IQ
  • has important relationships
  • uses certain words
  • need lifelong support in planning and organizing life
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10
Q

Severe/ Profound Intellectual Disability

A

SEVERE: 20-35 IQ
PROFOUND: BELOW 20 IQ

  • develop strong relationships with key people in life
  • little to no speech
  • need lifelong help in most areas
  • really need assistance
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11
Q

Signs of Intellectual Disability

A
  • rolling over, sitting up, walking, crawling late
  • talking late or trouble with speech
  • slow to master things (POTTY TRAINING, dressing, feeding themselves)
  • difficulty remembering things
  • inability to connect action with consequence
  • behavior problems (explosive tantrums)
  • difficulty in problem solving or logical thinking
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12
Q

Trisomy 21 (Down Syndrome)

A
  • physical features noticeable at birth
  • most common chromosomal abnormality (1:700)
  • presence of extra genetic material from chromosome 21
  • have multiple malformation, medical condition, and cognitive impairment
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13
Q

Trisomy 21 (Down Syndrome) Physical Findings

A
  1. hypotonia
  2. small
  3. brachycephalic head
  4. epicanthal folds
  5. flat nasal bridge
  6. upward-slanting palpebral fissures
  7. small mouth
  8. small low-set ears
  9. excessive skin at the nape of neck
  10. brushfield spots
  11. single transverse palmar crease
  12. short fifth finger with clinodactyly
  13. wide spacing between first and second toes (sandal gap toes)
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14
Q

Antenatal Testing for Down Syndrome

A

commonly diagnosed in immediate newborn period after uneventful pregnancy

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15
Q

Trisomy 21 First Trimester Screening

A
  • maternal age
  • nuchal translucency
  • ultrasonography
  • serum-human chorionic gonadotropin (-hCG)
  • pregnancy-associated plasma protein (PAPP-A)
  • detection rate: 82-87%
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16
Q

Trisomy 21 Second Trimester Screening

A
  • “quad screen”
  • maternal age risk
  • maternal serum hCG
  • unconjugated estriol
  • alpha-fetoprotein (AFP)
  • inhibin levels
  • detection rate: 80%
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17
Q

Trisomy 21 Integrated Screening

A
  • combined first and second trimester screening
  • detection 95%
  • false positive rate: 5%
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18
Q

T21 Maternal Serum Screening

A

blood drawn for screening at 16-20 weeks

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19
Q

T21 Chromosomal Analysis or Karyotyping

A
  • confirm clinical diagnosis
  • provide information that will help with counseling
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20
Q

T21 Cardiac Assessment

A
  • chest radiograph, ECG, referral to pedia cardio
  • 40% of infants will have congenital cardiac disease
  1. endocardial cushion defect
  2. ventricular septal defect
  3. patent ductus arteriosus
  4. atrial septal defects
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21
Q

T21 Full Blood Count

A
  • hematological problems common in t21
  1. thrombocytopenia (28%)
  2. polycythemia
  3. transient myeloproliferative disorders (leukemoid reactions)
  4. leukemia (10-20x more likely)
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22
Q

T21 Thyroid Function Test

A
  • initially in nb screening
  • T4 and TSH requested for nb with suspicious signs of hypothyroidism (prolonged jaundice)
  1. congenital hypothyroidism (1% infants)
  2. hypothyroidism (15% of individuals with t21)
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23
Q

T21 Subspecialty Referrals

A
  1. pediatrician
  2. geneticist
  3. development pediatrician
  4. opthalmologist
  5. ENT
  6. cardiologist
  7. endocrinologist
  8. rehabilitation medicine
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24
Q

T21 Recurrence Risk

A
  • nondisjuction type: 1% or less
  • theoretical recurrence risk for a Robertsonian carrier parent to have liveborn Down Syndrome offspring: 1 in 3
25
Q

T21 Newborn Screening

A

can detect presence of hypothyroidism but not DS

26
Q

Autism

A

catch-all term referring to spectrum of autism disorders

27
Q

ASD Etiology

A
  • exact cause unknown
  • biological based neurodevelopmental disorders (highly heritable)
  • multifactoral
28
Q

ASD Genetics

A
  • involves multiple genes
  • demonstrate great phenotypic variation
  • rare mutation
  • involves deletion or duplication of 25 genes on chromosome 16 (over 1% of ASD in US)
29
Q

ASD Estimate of Recurrence Risk

A
  • 5-6% (range: 2-8%) when there is older sibling with ASD (higher when 2 children has ASD in family)
  • IDENTICAL: 1 child has ASD = other 60-96%
  • NON-IDENTICAL: 1 child has ASD = other 0-24%
  • 10% of children with ASD: (+) identifiable genetic, neurologic of metabolic disorder e.g fragile X
30
Q

ASD Major Implicated Brain Structure

A
  1. cerebellum
  2. cerebral cortex
  3. limbic system
  4. corpus callosum (diffuse white matter inflammation)
  5. basal ganglia
  6. brain stem
31
Q

ASD Implicated Neurotransmitters

A
  1. serotonin
  2. dopamine
  3. epinephrine
32
Q

ASD Growth Dysregulation Hypothesis

A

abnormal brain development beginning in infant’s first months

33
Q

ASD Environmental Factors

A
  1. advanced paternal and maternal age (de novo spontaneous mutations and/or alteration in genetic imprinting)
  2. environmental exposure (act as central nervous system teratogens in early gestation life)
34
Q

ASD Level 1 Dx

A

routine developmental surveilance

35
Q

ASD Level 2 Dx

A

diagnosis and evaluation of autism

36
Q

ASD Comprehensive Evaluation

A
  1. diagnostic tatistic Manual (DSM) IV Criteria
    ○ When an individual displays 6 or more of 12 symptoms listen across three major cases:
    ■ Social interactions
    ■ Communication
    ■ behavior
  2. assorted checklist
    ○ E.g. CARS, ADOS, M- CHAT
  3. cognitive testing
  4. adaptive skills testing
37
Q

ASD Laboratory/ Diagnostics

A
  1. BAER
  2. EEG
  3. neuroimaging (CT SCAN. MRI)
  4. metabolic screening (thyroid, lead)
  5. chromosomal studies
38
Q

ASD Early and Intensive Behavioral Intervention (EIBI)

A

US surgeon general has recommended this as an effective treatment

39
Q

ASD Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH)

A

National Research Council has recommended this as a plausible intervention with positive program evaluation data

40
Q

ASD Risperidone (Risperdal)

A

treatment approach for problem behavior only after a function based approach was ineffective

41
Q

Burden of ADHD

A
  • academic limitations
  • relationships
  • low self-esteem
  • injuries
  • smoking and substance abuse
  • motor vehicle accidents
  • legal difficulties
42
Q

Prevalence of ADHD

A
  • boys are more likely to be diagnosed than girls
  • thought as a childhood disorder but persists into adulthood
43
Q

ADHD Etiology

A
  • heterogenous behavioral disorder
  1. neurobiologic factors
  2. genetic origins
  3. CNS results
  4. environmental factors
44
Q

ADHD Genetic Basis

A
  1. twin studies (higher concordance rate in monozygotic)
  2. family aggregates (increased risk)
  3. adoption studies (no higher risk)
  4. molecular genetics
45
Q

Neurobiology of ADHD

A

MRI shows decreased blood flow to anterior cingulate and increased flow in frontal lobe

46
Q

ADHD Environmental Contribution

A
  1. psychosocial adversity
  2. alcohol exposure
  3. cigarette exposure
  4. maternal depression
47
Q

ADHD Core Symptoms

A
  1. inattention
  2. impulsivity/ hyperactivity
48
Q

ADHD Diagnosis

A
  • history
  • interview (determine functional impairment in home and school/job setting)
  • rating scales (corroborate clinical dx)
  • physical exam, vital signs, physical explanation for disorder, secondary conditions, drug contraindications
  • DSM-IV TR criteria; ICD-10 criteria
  • assessment for co-morbid conditions
49
Q

ADHD DSM-IV TR Criteria

A
  • inclusive conditions
  • persistent pattern of inattention and/ or hyperactivity/ impulsivity
50
Q

ADHD DSM-IV TR No. of Symptoms

A

6 or more

51
Q

ADHD DSM-IV TR Duration of Symptoms

A

more than 6 months

52
Q

ADHD DSM-IV TR Onset

A

before 7 years old

53
Q

ADHD DSM-IV TR Setting

A

occurs in 2 or more settings (home, work, school, play)

54
Q

ADHD DSM-IV TR Severity

A

developmentally inappropriate

55
Q

ADHD DSM-IV TR Impact

A

significant impairment in social, academic, and occupational functioning

56
Q

ADHD DSM-IV TR Exclusion

A

other mental disorders

57
Q

ADHD Subtype: Combined Presentation

A
  • predominantly inattentive presentation
  • Criterion A1 (Inattention) is met but Criterion A2 (Hyperactivity-Impulsivity) is not met and 3 or more symptoms from Criterion A2 have been present for the past 6 months
58
Q

ADHD Subtype: Inattentive Presentation (Restrictive)

A
  • predominately hyperactive/ impulsive presentation
  • Criterion A1 (Inattention) is met but no more than 2 symptoms from Criterion A2 (Hyperactivity-Impulsivity) have been present
    for the past 6 months.
59
Q

Standard ADHD Treatment

A
  1. education
  2. psychosocial interventions
  3. pharmacotherapeutic intervention

MCN 109 Midterms (12 decks)

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