Tourettes/ID- 5C

Question 1

Diagnosis of Tourettes Disorder

Answer 1

• multiple motor and 1 or more vocal tics (not necessarily concurrent)
• onset before 18 y
• usually onset by age age 7y

Question 2

Comorbidity in Tourettes

Answer 2

• obsessive compulsive disorder 30-50%
• ADHD
• oppositional defiant disorder or symptoms

Question 3

Pathophysiology of Tourettes

Answer 3

• Disinhibition of cortico-striatal-thalamic-cortical pathway
• overactive caudate
• dopamine overactivity

Question 4

Treatment of Tourettes

Answer 4

• mild: alpha2 agonist- clonidine/guanfacine
• severe: risperidone
• resistant: PIMOZIDE FDA approved; prolongs Qtc, so avoid in history of arrhythmia’s and 3A4 inhibitors

Question 5

What is Lesch-Nehan syndrome

Answer 5

-stereotypic movement disorder: self biting

Question 6

Elements of Intellectual Disability Diagnosis

Answer 6

• deficits in intellectual function
• deficits in adaptive functioning
• onset during developmental period

Question 7

Most common genetic or chromosomal cause of ID

Answer 7

-Down’s syndrome

Question 8

Most common inherited cause of ID

Answer 8

-Fragile X syndrome (X-linked dominant on FMR-1 gene mutation)

Question 9

Most common preventable cause of ID

Answer 9

-fetal alcohol syndrome

Question 10

Specific ID associations

Answer 10

• ID due to Down’s Syndrome: Alz Dementia after age 40
• ID Fragile X: ADHD 80%
• ID Prader-Willi: OCD depression, hunger
• ID Williams syndrome: ADHD, anxiety, depression
• ID DiGeorge syndrome:22q11.2 deletion: abnormal thymus gland, impairments in T cell production