Adolescent diseases

Question 1

What is Waardenburg syndrome

Answer 1

Auto dom pigmentation problem
Hair has white streaks
Eyes are blue

Question 2

What is Alport syndrome

Answer 2

Auto Dom renal problem

Hematuria, proteinuria, and HTN

Question 3

What are some common developmental delays

Answer 3

Language: primary hearing problem or brain issues

Social impairment: Autism, MR

Question 4

What is Autism

Answer 4

Complex neurobiological d/o
Onset prior to 3 y/o
Can screen with MCHAT at 18, 24, and 36 months, but this is a clinical diagnosis

Question 5

Autism disorder includes these aspects

Answer 5

Impairment os social interaction
Impairment in communication
Abnormal, repetitive, and stereotyped behaviors

Question 6

What do parents report that may indicate autism

Answer 6

Delayed language (poor response to name and use of words
Delayed social abilities (poor eye contact, in own world
Sensory difficulties (sensitive to sounds, textures, sight, light)
Challenging behavior (self injury/stimulation, withdrawal)
“My child plays with himself, not with the group”

Question 7

How else can you screen for autism

Answer 7

Standard developmental surveillance at well child exams; assess ages and stages questionnaire, denver milestone
Earlier screening or referral for RF

Question 8

What is the MCHAT

Answer 8

modified checklist for autism in toddlers
23 questions that ID at risk kids, NOT diagnosis
If abnormal results, need further testing or referral for developmental peds

Question 9

What are parental concerns about autism

Answer 9

Dr. Wakefield published a report in 1998 correlating immunizations and autism
However, the study was debunked in 2010
Official statement from the AAP and AAFP say: “No clinical evidence to support immunizations cause autism”

Question 10

What is intellectual disability/mental retardation

Answer 10

Generalized learning disorder with impairment of intellectual and adaptive functioning

Question 11

What causes ID/MR

Answer 11

Environmental factors
Genetic mutation or syndrome (Klinefelter’s)
Prenatal virus, maternal cause, or teratogens
OKY or hypothyroidism
Near drowning, brain injury

Question 12

How do you test for ID/MR

Answer 12

IQ testing (cognitive function) 
<70 indicates ID/MR

Question 13

What syndromes can cause pediatric MR

Answer 13

Down syndrome (MCC)
Fragile X syndrome (MC familial cause)
Fetal alcohol syndrome (most preventable)
DiGeorge syndrome (FISH, 22q11)

Question 14

What are manifestations of FAS

Answer 14

abnormal facies 
Microcephaly 
Short stature 
Congenital abnormalities 
-clinical diagnosis!

Question 15

What is ADHD

Answer 15

Disorder of inattention, impulsivity, and regulation of activity
Boys>girls
Need to refer to specialist for diagnosis w/ clinical testing

Question 16

How do you treat ADHD

Answer 16

If >5 y/o, do a screening ECG and treat with meds (ritalin)

Question 17

How should infants sleep

Answer 17

No infant should co-sleep with parent if <6 months old, they should sleep on back
Should have nighttime feeds under 6 months old
Infants: 18 hour
Toddler: 12 hours (1-2 naps)
School age: 10 hours
Adolescents: 8 hours

Question 18

What is a night terror

Answer 18

Occurring during non-REM around 4-8 y/o

Result of autonomic stimulation so they don’t remember the episodes

Question 19

What is a Nightmare

Answer 19

Occurring during REM sleep around 2-5 y/o

They are frightened and can remember “dreams”

Question 20

How do you toilet train

Answer 20

In the US, around 2-3 years old
at 18 months introduce the “potty chair”
Should be bowel and bladder trained by 3 y/o, but can have random “accidents”

Question 21

What is Enuresis

Answer 21

Nocturnal bedwetting after 6 y/o, or daytime accidents after 4 y/o
Do a PE, UA, urine culture, and maybe treat with DDAVP (desmopressin)

Question 22

What is Encopresis

Answer 22

Inappropriate stooling after 4 y/o, or after successful toilet training
Do a PE, rectal exam, and abd XR

Question 23

What are Blue Spells

Answer 23

Breath holding around 2 y/o leading to LOC and clonic jerks
Associated with provoked situation or upsetting event
Reassure parents that it will not damage brain or heart
Check for anemia

Question 24

Is thumb sucking normal

Answer 24

Yes in infancy and early childhood
Abnormal after 5 y/o, can lead to dental problems and psych issues (if school aged)
Tx with behavior modification