All states screen newborns for which two disorders?

PKU & hypothyroidism

Most states also screen for what endocrine disorder?

Congenital adrenal hyperplasia

What other classes of disorders are typically screened for?

Hemoglobinopathies

Fatty acid oxidation disorders

Organic acid disorders

Amino acid disorders

Many states are also beginning to screen for which immune disorders?

SCID disorders

(Severe Combined ImmunoDeficiency – allowing diagnosis before the child becomes ill, hopefully)

The PKU screen is the most complicated of the newborn tests. What are the special rules for the timing of the test?

If the test is done at <24 h old, must be repeated between 1 and 2 weeks of age

(the metabolite might not have built up in 24 h)

What procedures can cause PKU screening to be inaccurate?

Blood transfusions & dialysis

What procedures can cause hemoglobinopathy screening to be inaccurate?

Transfusion

(After all, it’s not their hemoglobin you’re testing, if they’ve been transfused!)

What is the rule for ophthalmology referral depending on the difference in acuity between the two eyes?

If there is more than one line discrepancy in what the R vs. L eye can read – Refer!

(there are also specific acuity requirements that vary by age – please refer to the ophthalmology section in Tricky Topics II)

At what age should you test kids for strabismus with the “cover/uncover” test?

Toddler – preschool

Between ages 3 and 5, it is difficult for kids to use a standard eye chart. What test can be used instead?

The random-dot-E test

(E’s in different orientations)

How often should school-aged children and adolescents have their vision checked?

Annually

By 4 months old, what sorts of visual behavior can you check to assess vision?

Conjugate gaze

Object tracking

(red reflex should also be present, of course)

In young children, hearing can be tested with evoked potentials (ABR or BAER testing). What newer, simpler, modality for testing young children is now available?

Evoked-oto-acoustic-emissions (EOAE)

(easier to use, but more false positives)

How often does the AAP recommend formal hearing testing?

Earliest formal hearing testing possible is age 3 –

Test in preschool,

Kindergarten,

Grades 1, 3, 5, & either 7 or 9 in the US educational system

(approximately ages 3, 5, 6, 8, 10, & 12–14 years)

(and screening at birth, of course!)

Which kids need a hearing screening, based on their particular history?

(3)

1. Parental concern about language development

2. history of infection that might cause hearing loss

3. history of ototoxic meds

(sometimes also needed for head trauma or neurodegenerative diseases)

By what age should all infants have an initial hearing screening, and how should that screening be done?

By 1 month old!

Physiological testing (not just clinical impression)

If the initial hearing screening is abnormal or can’t be interpreted, what should be done?

Rescreen the infant promptly – if it remains abnormal, then referral for medical & audiological exam is required

The AAP has set a standard for all congenitally deaf children to be identified by what age?

3 months

What is the main reason to screen for hearing loss?

Big effect on speech/language development

Is universal screening for elevated cholesterol in children recommended?

Yes –

One time between ages 9 and 11 years

Repeat between ages 17 and 21 years

(This is a change from prior recommendations!)

Which children in the other age groups (2–8 year olds & 12–16 year olds) should also have lipid screening?

(4 groups – 1 parental factor 1 behavioral factor 1 family history factor 1 set of patient medical factors)

Parent with dyslipidemia or total cholesterol >240

Child who smokes

Child with DM, HTN, lipid-related medical condition (moderate to high risk), or BMI ≥95 %

Family history positive for early atherosclerotic disease

What qualifies as “family history of early atherosclerotic disease?”

MI, stroke, angina, coronary artery bypass graft/stent/or angioplasty, or sudden cardiac death at <55 years old in a male relative, or <65 years old in a female relative

Which relatives “count” for the positive family history of cardiovascular disease?

Parent, grandparent, aunt/uncle, or sibling

What are considered high or moderate risk factor lipid-related conditions?

HTN

Cigarette smoker

HDL <40

DM

Which additional medical disorders are high or moderate risk factors for lipid-related conditions?

(5)

Heart or kidney transplant

Kidney disease, including nephrotic syndrome

HIV infection

Kawasaki’s disease with presence, or history of, aneurysms

Chronic inflammatory (rheumatological) disorders

Children must usually be at least how old to qualify for lipid lowering medication treatment?

10 years old

At what confirmed LDL level should a child generally be started on statin therapy?

≥190 mg/dL

(10 years old or older)

Patients with confirmed LDL levels ≥130, but less than 190 mg/dL, should be started on a statin if what other conditions are met?

(2)

Clinical coronary vascular disease is present

OR

At least three risk factors are present (at least one high risk & two moderate risk, depending on the LDL level)

(& 10 years old or older)

Why is lipid screening avoided in children ages 12–16 years old, if possible?

High false negative & low sensitivity & specificity in this age group, when you try to correlate the current result to adult lipid (LDL) levels

Which lipid test should you order, for screening purposes?

The fasting lipid profile

At what triglyceride level should you automatically refer to a specialist?

≥500 mg/dL

At what LDL level should you automatically refer to a specialist?

≥250 mg/dL

Should abnormal fasting lipid profile results be repeated? If so, when?

Yes, repeat at least one time

Wait for at least 2 weeks between measures (but not more than 3 months!)

At what triglyceride (TG) level might a child need to be started on a TG lowering medication?

≥200

Consider omega-3 fish oil therapy, also

At what age should you start screening children’s BP, and how often should you recheck it?

3 years –

Recheck annually

If you think a child’s blood pressure is abnormal, what will you need to do to confirm it?

Same as an adult – take three readings on three different days

(they should all be abnormal if it’s real)

If the BP is from a machine (oscillometry) it must be confirmed with BP by auscultation!

There are three types of elevated BP. What are they?

(Note: These categories have been updated in the last few years!)

Prehypertension

(91–95 % for age)

Stage 1 hypertension

(>95 % for age but <99 % + 5 mmHg)

Stage 2 hypertension

(≥99 % + 5 mmHg)

If a child is identified with prehypertension, what should you do?

Evaluate need for weight management, educate on activity, & check CV risk factors

&

Repeat BP check in 6 months

Which interventions should ALL children identified with prehypertension or hypertension receive?

(4)

Weight management evaluation

BP follow-up checks

Activity counseling

Diet guidance

If a child is identified with Stage 1 hypertension (HTN), what needs to be done & how often should they be rechecked?

Basic HTN work-up

&

Recheck BP in 3–6 months

What is considered the “basic work-up” for a child with some degree of HTN, according to current guidelines?