HEALTH MAINTENANCE GUIDELINES

Question 1

Targets

What are the glycemic targets for children with T1DM? -Fasting/pre-prandial BG -HgbA1C

Answer 1

Fasting/pre-prandial BG: -12 yo: 4-7 HgbA1C: -12 yo: < 7%

Question 2

What is the dose of glucagon for severe hypoglycemia: -5 yo

Answer 2

5 yo: 1 mg glucagon IM

Question 3

What are the screening protocols for complications of T1DM (9)?

Answer 3

In order of most frequent to least frequent: 1. Hypertension: check BP q6months 2. Nephropathy: check first morning/random ACR at age 12 if T1DM > 5 yrs q1yr 3. Autoimmune thyroid disease: check TSH/antithyroid antibodies/thyroperoxidase at diagnosis and q2y after if negative, q6-12mo if positive 4. Dyslipidemia: check at 12 and 17 yo with cholesterol level, HDL, LDL, triglycerides -check at < 12 yo if BMI > 95%, family history of dyslipidemia or premature CV disease 5. Retinopathy: ophthamology check at age 15 yo if T1DM > 5 yrs q1yr 6. Celiac disease: screen with history, then if positive, anti-transglutaminase and IgA level 7. Adrenal insufficiency: screen with history (recurrent hypoglycemia, decreasing insulin need), then if positive, get am cortisol level and lytes 8. Eating disorders: screen with body image questions 9. Neuropathy: for postpubertal children, screen with history and exam

Question 4

What counselling should children with T1DM receive at each meeting (5)?

Answer 4

1. Glycemic control -checking BG frequently -recording BG 2. How to manage hypoglycemia -glucagon -carry snacks 3. Influenza immunization yearly to prevent intercurrent illness that could complicate diabetes management 4. Formal smoking prevention 5. Adolescent females should receive counselling on contraception and sexual health to prevent unplanned pregnancy

Question 5

What are possible complications in Down Syndrome (14)?

Answer 5

1. Cognitive impairment 2. Hearing loss 3. Recurrent otitis media 4. Vision difficulties: myopia, cataracts, strabismus 5. Dentition issues 6. Obstructive sleep apnea 7. Hypothryroidism 8. Atlantoaxial instability 9. Congenital heart defects 10. Pulmonary hypertension 11. Gastrointestinal atresias/Hirschsprungs 12. Hip dislocation 13. Hematologic issues: transient myeloproliferative disorder, leukemia, iron deficiency, anemia 14. Seizures

Question 6

What are the 3 types of Down Syndrome?

Answer 6

1. Trisomy 21: 95% of cases, sporadic 2. Translocation: 3-4% of cases, unbalanced translocation between chromosome 21 and another acrocentric chromsome (75% are de novo, 25% are due to a balanced translocation in a parent which then increases their chances of having a 2nd child with Down Syndrome) 3. Mosaicism: 1-2% of cases

Question 7

What is the integrated pregnancy screen (ie. IPS)?

Answer 7

IPS includes: -1st trimester screening for Down syndrome: nuchal translucency ultrasound, measurement of maternal B-hCG and pregnancy associated plasma protein A (PAPP-A) -2nd trimester screening: B-hCG, unconjugated estriol, AFP, inhibin (aka quad screen) Detection rate of IPS for Down Syndrome is 95% 5% false positive rate

Question 8

What percentage of testicular tumors are malignant in: -prepubertal pts -postpubertal pts What are two serum tumor markers to order for diagnosis?

Answer 8

1. Prepubertal pts: 35% 2. Postpubertal: 95% -AFP: yolk sac tumors -BHCG: dysgerminoma and choriocarcinoma

Question 9

What lab findings do you see in Rickets?

Answer 9

1. Low Vitamin 25-OH 2. Low, normal or high 1, 25-hydroxyvitamin D 3. Low or normal calcium 4. Low phosphate 5. High PTH

Question 10

What is the definition of delayed puberty in females?

Answer 10

Any of the following: 1. Puberty x 5 years without menarche 2. >15 yo without menarche 3. > 13 yo without thelarche

Question 11

What is the definition of delayed puberty in males?

Answer 11

Any of the following: 1. 14 yo without testicular enlargement 2. 14 yo without pubarche

Question 12

What is the approach for down syndrome screening: -woman < 35 yo -woman > 35 yo

Answer 12

Woman < 35 yo: can do quad screen first (AFP, HCG, estriol, inhibin). If high risk, then can proceed to amniocentesis -Woman > 35 yo: can offer amniocentesis right away

Question 13

A baby with Down Syndrome is found to have a Robertsonian translocation. What is the recurrence risk for the parents’ 2nd child having Down Syndrome?

Answer 13

In 65% of translocation cases, the translocation was de novo (spontaneously, neither parent has abnormal karyotype) -in 35%, a parent has a balanced translocation and recurrence risk depends on whether it’s mom or dad who has it -if mom: 10-15% recurrence -if dad: 2-5% recurrence ***So just remember to have chromosomal analysis done for both parents