Child & Adolescent/Neurodevelopmental Flashcards

1
Q

The “onset before age 7 years” criteria for ADHD in DSM-IV was changed to what in DSM-5?

A

“Several inattentive or hyperactive-impulsive symptoms were present prior to age 12 years.”

DSM-5

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2
Q

Health Canada issued a warning with the use of Atomoxetine in 20011 for what issue?

A

A safety announcement which warns of the risk of increased blood pressure and increased heart rate with the use of atomoxetine.

Health Canada

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3
Q

Match the malfunctioning prefrontal cortex area to its associated core ADHD core symptom.

  1. Dorsal ACC
  2. DLPFC
  3. Prefrontal Motor Cortex
  4. Orbital frontal cortex

a. Impulsive symptoms
b. Hyperactive symptoms
c. Selective attention
d. Sustained attention/ poor problem solving

A

Dorsal ACC = selective attention

DLPFC = sustained attention/poor problem solving

PFC= hyperactive symptoms

OFC = Impulsive symptoms

(Stahl’s Essential Psychopharmacology and uOttawa)

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4
Q

What is the prevalence and male:female ratio for Austism Spectrum Disorder?

A

Prevalence ~ 1%
Male to Female ratio is 5:1

Note: < 40% are mentally retarded (intellectual disability)

uOttawa 2014

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5
Q

What is untrue of Neurofibromatosis Type 1?

a. Autosomal dominant
b. mutation of a gene on chromosome 17
c. Cafe au lait spots, neurofibromas, short stature, macrocephaly
d. 80% with moderate to profound MR
e. ADHD, anxiety, mood problems

A

d. 10% with moderate to profound MR

uOttawa 2014

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6
Q

What is untrue of Tuberous Sclerosis?

a. Autosomal Dominant
b. spectrum of MR (30% have none, to profound)
c. Epilepsy in 60-90%
d. Autism Spectrum Disorder in 5%
e. Hyperactivity, impulsivity, aggression, self-injurious behaviours, sleep problems

A

d. Autism Spectrum Disorders in 25-50%

Note: mutation in TSC1 gene (hamartin) 9q34 or the TSC2 tumour suppressor gene (tuberin) 16q13.

uOttawa 2014

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7
Q

What is untrue of Velocardiofacial Syndrome?

a. 22q11.2 deletion syndrome
b. Cardiac anomoly, T-cell deficit, Clefting, Hypocalcemia
c. LD, pharyngeal hypotonia, slender hands/digits
d. 85% develop schizophrenia
e. 35-46% develop ADHD

A

d. 25% develop schizophrenia

Note: DiGeorge syndrome is a subtype

uOttawa 2014

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8
Q

Phenylketonuria causes accumulation of phenylalanine if untreated and will result in MR, microcephaly, delayed speech, seizures, and behaviour problems (self-injury, hyperactivity). Patients often have fair skin, ___ eyes, and ____ hair.

A

blue eyes and blond hair

uOttawa 2014

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9
Q

Hurler syndrome is autosomal recessive and is ass’d with short stature, hepatosplenomegaly, hirsutism, corneal clouding, and death before age ____.

A
  • death before age 10

also have: moderate to severe MR, anxious, fearful

uOttawa 2014

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10
Q

Turner syndrome is XO (monosomy) with an incidence of 1/2000 live births. It is not an important cause of ID (5%) but some may have LDs in math, and/or visuospatial skills. What are some features of Turner’s?

A

Short stature, low-set ears, webbed neck, shield chest,
Cubitus-valgus, defects in cardiac/thyroid/kidneys, gonadal dysgenesis. 25% have ADHD.

uOttawa 2014

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11
Q

What is untrue about Lesch-Nyhan Syndrome?

a. defect in hypoxanthine guanine phosphoribosyl transferase Xq26.q27.2
b. recessive, rare, 1/38,000
c. ataxia, chorea, kidney failure, gout
d. mild self-biting behaviour
e. aggression, anxiety
f. mild-moderate MR

A

d. Severe self-biting behaviour - google image this to remember :(

uOttawa 2014

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12
Q

What is untrue of Rubenstein Taybi Syndrome?

a. Autosomal dominant
b. deletion of cyclic adenosine monophosphate response element-binding protein gene 16.13.3
c. short stature, microcephaly, thin thumbs
d. feeding problems in infant, congenital heart dz, seizures, poor concentration, happy/sociable kids, mood lability and temper tantrums as adults.

A

c. broad thumbs

uOttawa 2014

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13
Q

What is untrue of Smith-Magenis Syndrome?

  • deletion 17p11.2
  • broad, square-shaped faces with prominent foreheads, deep-set and upslanting eyes, eyebrows that meet in the middle, short broad hands, small toes
  • hoarse, deep voice (80% partial paralysis of vocal cords), laryngeal abnormalities, hyperactivity, severe self-injury
  • moderate MR
A

All are true.

uOttawa 2014

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14
Q

Cri du Chat Syndrome is autosomal dominant, hemizygous deletion of 5p15.2, and infants have a cat-like cry, hyperactivity, stereotypies, self-injury, severe MR, congenital heart disease, GI issues. Prevalence 1/15,000 to 1/45,000. What are 4 physical characteristics ass’d with it?

A
  • epicanthal folds
  • slanting palpebral fissures
  • broad flat nose
  • micrognathia

uOttawa 2014

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15
Q

Which developmental disability syndrome features an elfin-like face, stellate iris, depressed nasal bridge, widely spaced teeth, short stature, musical skills in some, and a broad forehead?

A

Williams Syndrome

uOttawa 2014

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16
Q

What development disability syndrome is described by the following attributes?

  • failure to thrive, avoid being held
  • continuous eyebrows (synofers), thin down turning upper lip, anteverted nostrils
  • microcephaly, short stature, small hands/feet, malformed upper limbs, excessive body hair
  • self injury, limited speech, stereotypical movements
  • severe to profound MR
  • GI problems (GERD)
A

Cornelia de lange

  • deletion in NIPBL gene at 5p13.1
  • prevalence 1/10,000

uOttawa 2014

17
Q

Describe Angelman Syndrome.

A
  • deletion 15q11-13 region of maternal origin (70%), 3% paternal uniparental disomy, 25% not identified
  • incidence 1/20,000 live births
  • prevalence in severe MR 1.4%
  • fair hair, blue eyes, wide smiling mouth, thin upper lip, 90% epilepsy, ataxia, microcephaly
  • happy, paroxysmal laugh, sleep problems, love water/music

uOttawa 2014

18
Q

What developmental disability is characterized by:
Hyperphagia, central obesity, small hands/feet, short stature, microorchidism, fair hair/light skin, and almond shaped eyes?

A

Prader-Willi Syndrome (deletion on long arm of chromosome 15q11-15q13; 70% paternal)

Note: 5% normal intelligence, 30% mod MR, 60% mild MR

  • high pain threshold, sensitivity to medications, high rates of behavioural and OCD spectrum sx’s.
  • Strengths: visuospatial, reading, decoding, long-term memory, jigsaw puzzles, math, socialization.

uOttawa 2014

19
Q

What developmental disability is characterized by: hypotonia, upward slanted palpebral fissures, midface depression, flat wide nasal bridge, simian crease, short stature, increased incidence of thyroid anomaly and congenital heart disease?

A

Down Syndrome

Note: high risk of sleep apnea, otitis media, secondary hearing loss, congenital hypothyroidism. Behavioural problems uncommon.

  • 25% have ADHD; increased risk for depression
  • average life expectancy 57.8 women; 61.1 men

uOttawa 2014

20
Q

What are the histopathological characteristics of Down Syndrome?

A
  • same as AD, such as plaques and neurofibrillary tangles. Amyoid accumulation in the brain start in the childhood years.
  • prevalence of dementia increases > 45; reaching >75% in people with DS aged >65.

uOttawa 2014

21
Q

What developmental disability is characterized by: small head, short stature, epicanthal folds, flat midface, smooth philtrum, low nasal bridge, small eye openings, short nose, and thin upper lip?

A

Fetal Alcohol Syndrome

  • mild to mod MR, language delays, math deficits
  • irritability, poor social skills, ADHD sx’s, memory impairment

uOttawa 2014

22
Q

What 2 structural brain abnormalities are associated with FAS?

A
  • Cerebellar hypoplasia
  • Partial or complete agenesis of corpus callosum

uOttawa 2014

23
Q

What are the Canadian Guidelines for diagnosing FAS?

A
  • FAS: 3/3 facial features + 3 neuro/cognitive
  • Partial FAS: 2/3 facial features + 3 neuro/cognitive
  • all require confirmed hx of exposure to alcohol*

uOttawa
Canadian Guidelines for FAS
http://www.cmaj.ca/content/172/5_suppl/S1.full

24
Q

What is the most common inherited cause of MR of genetic origin?

A

Fragile X
(Mutation of the FMRI gene at Xq27.3; mutation CGG trinucleotide repeat > 200-230 repeats)
- 10-12% of MR in men
- long face, large ears, mid face hypoplasia, arched palate
- macroorchidism, short stature, strabismus, joint laxity
- ADHD (80% male, 30% female), anxiety, speech-language delays, shyness, irritability, sterotypies

uOttawa 2014

25
Q

Intellectual disability has an overall general population prevalence of approximately ___% and prevalence rates vary by age.

A

1%
- 1.4-2 x more common in male children

DSM-5/uOttawa

26
Q

True or False: psychiatric & behavioural disorders range from 10% up to 2/3 of individuals with ID (30-40% range most often used).

A

True
- Emotional/behavioural disorders are 3-7 x more common than in neurotypical youth.

uOttawa 2014

27
Q

What are the 3 symptom domains for Criteria A in ASD in DSM-5?

A
  1. Deficits in social-emotional reciprocity
  2. Deficits in nonverbal communicative behaviours used for social interaction
  3. Deficits in developing, maintaining, and understanding relationships

uOttawa 2014

28
Q

What are the 4 symptoms domains for Criteria B in ASD in DSM-5?

A
  1. Sterotyped or repetitive motor movements, use of objects, or speech
  2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behaviour
  3. Highly restricted, fixated interests that are abnormal in intensity or focus
  4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment.

DSM-5

29
Q

What do we know about head circumference in ASD?

A
  • small at birth, but HC growth accelerates in 59% of autistic children (v. 6 normals) and reaches a mean at 84th percentile by age 6-14 months. By age 4 years, brain size estimated to be 10% greater than average, but possibly decelerates afterwards.

uOttawa 2014

30
Q

Medications: ________ (for 5-16 yr olds) and _________ (for 6-17 year olds) are FDA-approved for irritability in children and adolescents with autism.

A

risperidone and aripiprazole

uOttawa 2014

31
Q

Prevalence of ADHD in children and in adults?

A

Children: 6-9%
Adults: 4.4%

  • gender differences 9% boys: 3.3% girls

uOttawa 2014

32
Q

What was the major lesson about medication that we learned from the Multimodal Treatment Study of Children With ADHD (MTA study; 1999)?

A

“Medication, with or without behavioural treatment, is the most effective treatment for core ADHD symptoms”.

  • Note: parents prefer behavioural treatment, with or without medication, to medication tx alone

uOttawa 2014

33
Q

How do you dose Atomoxetine (Strattera)?

A

Start: 0.5 mg/kg/day x 10-14 days (or 40 mg in adults)
Then: increase 0.8mg/kg/day for 10-14 days (max 60 mg/day in adults)
Target dose: 1.2mg/kg/day (Max 100mg/day in adults or 1.4 mg/kg/day) x 4 weeks.
- full response could take 6 weeks or longer

uOttawa 2014

34
Q

Atomoxetine is metabolized by CPY 450 ?

A

2D6

35
Q

What is the suggested algorithm for treating ADHD (AACAP, 2010)?

A

1a. Stimulants (methylphenidate, and at least one amphetamine)
1b. Atomoxetine
2. alpha-2 agonists (clonidine, guanfacine XR)
3a. Buproprion
3b. TCA
4. Modafinil
5. Other or combo

uOttawa 2014

36
Q

According to DSM-IV, mental retardation is more common among ____, with a male-to-female ratio of approximately ?:?

A

males; 1.5:1.0

  • prevalence is ~ 1%

DSM-IV TR