delays

Question 1

fetal alcohol syndrome

Answer 1

due to consumption of alcohol by the mother during pregnancy; results in varying degrees of intellectual disabilities, abnormal neurobehavioral development, and facial abnormalities (flat mid face, short nose, thin upper lip, small palpebral fissure). Fetal alcohol syndrome is the leading cause of intellectual disability

Question 2

cerebral palsy

Answer 2

group pf motor disorders characterized by impaired voluntary movement due to prenatal development abnormalities or post natal CNS damage prior to age of 5. Patients will have a non progressive spasticity, ataxia, or involuntary movements. Strabismus, accommodative insufficiency, and refractive errors are also common

Question 3

down syndrome

Answer 3

trisomy 21; it is the most common chromosomal disorder in the US. patients will have an intellectual disability (IQ below 65), prominent epicentral folds, a simian crease, a flat face, and in increased risk of dementia, leukemia, and congenital heart disease. High refractive error, strabismus, and keratoconnus are also associated with this condition

Question 4

fragile X syndrome

Answer 4

most common cause of familial intellectual disability; it also causes enlarged testicles. It is X-linked recessive in inheritance although males are just carriers in 20% of cases

Question 5

autism

Answer 5

syndrome characterized by extreme aloofness, speech and language disorders, compulsive phenomena, and poor intellectual development or intellectual disability. It is more common in males and manifests before the age of 3

Question 6

asperger syndrome

Answer 6

a more highly functioning form of autism

Question 7

optic nerve hypoplasia

Answer 7

incomplete development of the optic nerve resulting in a smaller than normal optic nerve that may be surrounded by a ring of sclera and a ring of hyperpigmentation called a “double ring sign”. it may be unilateral or bilateral and is associated with maternal alcohol or drug use, septo-optic dysplasia (DeMorsier’s syndrome), or it can be idiopathic

Question 8

incidence of Down syndrome

Answer 8

1/1000 births

the most common chromosomal disorder

Question 9

IQ tests

Answer 9

Wechsler test (WISC)

the most common IQ test
compares verbal comprehension and perceptual reasoning. if perceptual reasoning is much lower than verbal comprehension, VT may be indicated to improve visual processing skills

Question 10

average IQ

Answer 10

100 with a STD of 15
66% of people have IQ 85-115
95% of people have IQ between 70-130

Question 11

Turner syndrome

Answer 11

absent X chromosome (X0) and affects 1/3000 females.

Question 12

Klinefelter syndrome

Answer 12

extra X chromosome in a male (XXY) and iOS associated with male hypogonadism

Question 13

Edward syndrome

Answer 13

trisomy 18 and affects 1/8000 children