Top Papers of the Month

Top Papers You May Have Missed in April 2022

Scott T. Vergano, MD
Department of Pediatrics, Children’s Hospital of The King’s Daughters, Norfolk, VA

Vergano ST. Top papers you may have missed in April 2022. Consultant360. Published online May 18, 2022.


A policy statement this month is so important that I have chosen to focus most of my commentary on it. In addition, I note several other relevant publications that appeared in the month of April.

Please feel free to share with your colleagues, discuss in your offices, and write to with your thoughts and opinions. As always, I am interested in hearing your thoughts and responses.

Here are my selections:

Health Supervision for Children and Adolescents With Down Syndrome1
The most important publication this month is this update to the 2011 Academy of Pediatrics (AAP) guidance on Health Supervision for Children With Down Syndrome. I read and reference this policy statement every time I do a check-up for a patient with Trisomy 21 and often give it out to families as well. (In my old paper charts, it was stapled to the inside of the front of the chart.) Here are the most significant changes that I notice compared with the previous statement:

  1. Annual screening for iron deficiency, starting at age 12 months, is recommended with a complete blood count (CBC), plus either a ferritin and c-reactive protein (CRP) test, or a serum iron and transferrin and iron-building capacity (TIBC) test. The addition of the other laboratory tests is to screen for iron deficiency that has not yet progressed to iron-deficiency anemia. The intent of ferritin plus CRP is that ferritin is an acute phase reactant, so in the presence of inflammation (elevated CRP), the ferritin might be falsely normal and inaccurate as a measure of iron stores.
  2. Iron deficiency is specifically mentioned as a potential cause of sleep difficulty. In children and adolescents with issues related to sleep, obtaining a serum ferritin is recommended, and treatment for iron deficiency should be considered in those with a ferritin level <50 μg/L. 
  3. The present statement recommends ophthalmologic evaluation at 6 months for all infants but not necessarily yearly ophthalmologic visits, as had previously been advised. Instead, annual vision screening is recommended with a Snellen or photoscreening test. Referral to a specialist is indicated if the photoscreen is abnormal or is not available in the office.
  4. The statement mentions that children with Trisomy 21 and autism may appear more social than children with autism alone, but early referral, identification, and treatment are critical to maximizing their developmental potential. It recommends autism screening, as with all children, at ages 18 and 24 months, with referral for further evaluation when findings on the screening are concerning. Social and communication deficiencies require further evaluation and should not be attributed to the developmental delays associated with Trisomy 21.
  5. Acute regression in Down syndrome, also known as catatonia or disintegrative disorder, is a neurologic condition characterized by loss of developmental milestones, mood changes or catatonia, and repetitive thoughts and behaviors in Down syndrome patients from late childhood through early adulthood. Patients with any of these symptoms should be referred for further evaluation to a neurologist or specialist familiar with this condition.

The AAP Council on Genetics has issued equally valuable guidelines on health supervision for numerous other genetic conditions, in addition to Trisomy 21. The disorders covered by current policy statements include achondroplasia, Williams syndrome, neurofibromatosis type 1, and Marfan syndrome.

Childhood Cardiovascular Risk Factors and Adult Cardiovascular Events2

The authors of this multinational prospective study follow 38,589 participants over a mean of 35 years and record 319 fatal and 779 fatal or non-fatal cardiovascular events in adulthood. They identify 5 childhood cardiovascular risk factors: body mass index, systolic blood pressure, total cholesterol level, triglyceride level, and youth smoking, and examine whether these risk factors are predictive of fatal and non-fatal cardiovascular events in adults. After calculating a z-score for individual and combined risk factors, they conclude that risk factors identified in childhood are positively associated with mid-life cardiovascular events. The strongest association is noted with youth smoking and the weakest with total cholesterol level.

Crossing Lines—A Change in the Leading Cause of Death among U.S. Children3
This editorial from the New England Journal of Medicine (NEJM) notes that the leading cause of death in children in the United States from ages 1 to 24 years has changed since 2017; it is now firearm-related injuries and no longer motor vehicle collisions (MVCs). The change is related to both a decrease in MVCs and an increase in firearm-related deaths, particularly homicides and suicides in older patients within the cohort. Two comments posted on the NEJM website criticize choosing an unconventional definition of “children” to make the statistics justify the conclusion.

Annual STI Testing Among Sexually Active Adolescents4

The addition of a question about sexually transmitted infection (STI) screening on the biennial national Youth Risk Behavior Survey administered in schools enabled the authors of this publication in Pediatrics to assess the frequency of STI screening among adolescents who acknowledge having sex within the last 3 months. They find that 26.1% of sexually active female students and 13.7% of male students report having been tested for STIs in the previous year. They conclude that adherence with guidelines for STI screening among adolescents appears suboptimal. Current national guidelines recommend annual screening for gonorrhea and chlamydia in sexually active adolescent females and males who have sex with males, but not in all adolescent males.


  1. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, et al; Council on Genetics. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022;149(5):e2022057010. doi:10.1542/peds.2022-057010
  2. Jacobs DR Jr, Woo JG, Sinaiko AR, et al. Childhood cardiovascular risk factors and adult cardiovascular events. N Engl J Med. 2022. doi:10.1056/NEJMoa2109191
  3. Lee LK, Douglas K, Hemenway D. Crossing lines – a change in the leading cause of death among U.S. children. N Engl J Med. 2022;386(16):1485-1487. doi:10.1056/NEJMp2200169
  4. Liddon N, Pampati S, Dunville R, Kilmer G, Steiner RJ. Annual STI testing among sexually active adolescents. Pediatrics. 2022;149(5):e2021051893. doi:10.1542/peds.2021-051893

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