Adolescent diseases Flashcards
What is Waardenburg syndrome
Auto dom pigmentation problem
Hair has white streaks
Eyes are blue
What is Alport syndrome
Auto Dom renal problem
Hematuria, proteinuria, and HTN
What are some common developmental delays
Language: primary hearing problem or brain issues
Social impairment: Autism, MR
What is Autism
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
Autism disorder includes these aspects
Impairment os social interaction
Impairment in communication
Abnormal, repetitive, and stereotyped behaviors
What do parents report that may indicate autism
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”
How else can you screen for autism
Standard developmental surveillance at well child exams; assess ages and stages questionnaire, denver milestone
Earlier screening or referral for RF
What is the MCHAT
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
What are parental concerns about autism
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”
What is intellectual disability/mental retardation
Generalized learning disorder with impairment of intellectual and adaptive functioning
What causes ID/MR
Environmental factors
Genetic mutation or syndrome (Klinefelter’s)
Prenatal virus, maternal cause, or teratogens
OKY or hypothyroidism
Near drowning, brain injury
How do you test for ID/MR
IQ testing (cognitive function) <70 indicates ID/MR
What syndromes can cause pediatric MR
Down syndrome (MCC)
Fragile X syndrome (MC familial cause)
Fetal alcohol syndrome (most preventable)
DiGeorge syndrome (FISH, 22q11)
What are manifestations of FAS
abnormal facies Microcephaly Short stature Congenital abnormalities -clinical diagnosis!
What is ADHD
Disorder of inattention, impulsivity, and regulation of activity
Boys>girls
Need to refer to specialist for diagnosis w/ clinical testing
How do you treat ADHD
If >5 y/o, do a screening ECG and treat with meds (ritalin)
How should infants sleep
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
What is a night terror
Occurring during non-REM around 4-8 y/o
Result of autonomic stimulation so they don’t remember the episodes
What is a Nightmare
Occurring during REM sleep around 2-5 y/o
They are frightened and can remember “dreams”
How do you toilet train
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”
What is Enuresis
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)
What is Encopresis
Inappropriate stooling after 4 y/o, or after successful toilet training
Do a PE, rectal exam, and abd XR
What are Blue Spells
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
Is thumb sucking normal
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
