Week 5: Medical Genetics- Autism

Question 1

3 monogenic causes of autism

Answer 1

Fragile X, Rett Syndrome, Tuberous Sclerosis

Question 2

Inheritance of Fragile X syndrome

Answer 2

XLR

Question 3

Gene in Fragile X syndrome

Answer 3

FMR1

Question 4

3 major features of Fragile X syndromE

Answer 4

ASD, connective tissue changes, characteristic face

Question 5

Inheritance of Rett Syndrome

Answer 5

XLD

Question 6

Gene in Rett Syndrome

Answer 6

MECP2

Question 7

5 major features of Rett Syndrome

Answer 7

Acquired microcephaly, regression, seizures, ASD, loss of purposeful hand movements

Question 8

Inheritance of TSC

Answer 8

AD

Question 9

Genes for TSC

Answer 9

TSC1, TSC2

Question 10

5 major features of TSC

Answer 10

Skin- hypo pigmented spots, Brain- cortical tubers, Kidney- cysts, Lungs- LAM, Heart-rhabdomyoma

Question 11

First tier testing for autism

Answer 11

Microarray, Fragile X DNA, MECP2

Question 12

RR for uncomplicated autism if 1 child is affected

Answer 12

5-10%

Question 13

RR for uncomplicated autism if 2+ children are affected

Answer 13

25-35%

Question 14

RR for complex autism if 1 child is affected

Answer 14

1%