The “onset before age 7 years” criteria for ADHD in DSM-IV was changed to what in DSM-5?
“Several inattentive or hyperactive-impulsive symptoms were present prior to age 12 years.”
DSM-5
Health Canada issued a warning with the use of Atomoxetine in 20011 for what issue?
A safety announcement which warns of the risk of increased blood pressure and increased heart rate with the use of atomoxetine.
Health Canada
Match the malfunctioning prefrontal cortex area to its associated core ADHD core symptom.
- Dorsal ACC
- DLPFC
- Prefrontal Motor Cortex
- Orbital frontal cortex
a. Impulsive symptoms
b. Hyperactive symptoms
c. Selective attention
d. Sustained attention/ poor problem solving
Dorsal ACC = selective attention
DLPFC = sustained attention/poor problem solving
PFC= hyperactive symptoms
OFC = Impulsive symptoms
(Stahl’s Essential Psychopharmacology and uOttawa)
What is the prevalence and male:female ratio for Austism Spectrum Disorder?
Prevalence ~ 1%
Male to Female ratio is 5:1
Note: < 40% are mentally retarded (intellectual disability)
uOttawa 2014
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
d. 10% with moderate to profound MR
uOttawa 2014
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
d. Autism Spectrum Disorders in 25-50%
Note: mutation in TSC1 gene (hamartin) 9q34 or the TSC2 tumour suppressor gene (tuberin) 16q13.
uOttawa 2014
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
d. 25% develop schizophrenia
Note: DiGeorge syndrome is a subtype
uOttawa 2014
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.
blue eyes and blond hair
uOttawa 2014
Hurler syndrome is autosomal recessive and is ass’d with short stature, hepatosplenomegaly, hirsutism, corneal clouding, and death before age ____.
- death before age 10
also have: moderate to severe MR, anxious, fearful
uOttawa 2014
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?
Short stature, low-set ears, webbed neck, shield chest,
Cubitus-valgus, defects in cardiac/thyroid/kidneys, gonadal dysgenesis. 25% have ADHD.
uOttawa 2014
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
d. Severe self-biting behaviour - google image this to remember :(
uOttawa 2014
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.
c. broad thumbs
uOttawa 2014
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
All are true.
uOttawa 2014
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?
- epicanthal folds
- slanting palpebral fissures
- broad flat nose
- micrognathia
uOttawa 2014
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?
Williams Syndrome
uOttawa 2014
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)
Cornelia de lange
- deletion in NIPBL gene at 5p13.1
- prevalence 1/10,000
uOttawa 2014
Describe Angelman Syndrome.
- 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
What developmental disability is characterized by:
Hyperphagia, central obesity, small hands/feet, short stature, microorchidism, fair hair/light skin, and almond shaped eyes?
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
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?
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
What are the histopathological characteristics of Down Syndrome?
- 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
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?
Fetal Alcohol Syndrome
- mild to mod MR, language delays, math deficits
- irritability, poor social skills, ADHD sx’s, memory impairment
uOttawa 2014
What 2 structural brain abnormalities are associated with FAS?
- Cerebellar hypoplasia
- Partial or complete agenesis of corpus callosum
uOttawa 2014
What are the Canadian Guidelines for diagnosing FAS?
- 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
What is the most common inherited cause of MR of genetic origin?
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
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Addictions, Forensics, Sex & Paraphilia62
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Medication or Neuroscience-related63
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Schizophrenia Spectrum/Psychosis80
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Mood & Anxiety Disorders63
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Psychotherapy & Social factors22
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Geriatrics, Neurocognitive Disorders & C/L66
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Child & Adolescent/Neurodevelopmental36
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Trauma-Related Disorders; Dissociative Disorders; Personality Disorders; Somatoform Disorders24
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Eating/Sleep/Gender/Elimination Disorders/Reproductive Life Stages46
