June 1, 2016
Volume VII | Issue No. 22

Hospital management of Pediatric Functional Somatic Symptoms FSS)
Pediatric FSS remains a little understood clinical problem" and with only 1% of yearly admissions, it has long being undermanaged. Many children have co-morbid somatic and psychiatric diagnoses (a mind-body or psychosomatic disorder) and come late to treatment from intact families. A team consisting of at least a pediatrician & child/adolescent mental health care professional is need to address FSS.
Long-term effects of congenital laryngomalacia (CLM)
CLM is a major cause of stridor in infants mostly resolving within 2 years.

A study of 20 CLM infants (and matched controls) assessed at 13 years of age (mean) indicates that 55% report respiratory difficulties during exercise, many of whom have supraglottic obstruction. CLM is a heterogeneous disease which increases the risk of later exercise-induced symptoms and laryngeal obstruction.

Hearing outcomes of infants with congenital cytomegalovirus (cCMV) and hearing impairment
"cCMV is the most common non-genetic cause of childhood sensoryneural hearing loss".

A study investigating the relationship between hearing status at birth and at 1 year (after 12 months of antiviral treatment) indicates that 64.9% improve, 28.6% remain unchanged and 6.5% deteriorate.

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Positional Plagiocephaly - Dr. Chad Perlyn
Positional Plagiocephaly - Dr. Chad Perlyn
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Does the use of a pacifier affect gastro-esophageal reflux (GER) in preterm infants?
A study of non-nutritive (pacifier) sucking in 30 preterm infants where GER was assessed by esophageal pH-impedance indicates that sucking a pacifier has no deleterious effect on acid or nonacid GER.

Hyperbilirubinemia and UDP-glucuronosyltransferase (UGT) or (UDP-glucoronyl tranferase)
"UGT is a cytosolic glucosal transferase that is utilized by the liver to remove drugs, dietary substances, toxins and endogenous substances like bilirubin. This is achieved by transferring the glucuronic acid moiety of UDP glucuronic acid to the substance - in this case bilirubin - creating bilirubin glucuronide (conjugated bilirubin) which is excreted into the small bowel. There are a large number of genes (at least 22) on chromosome 2 that encode four UGT enzymes.

A case description of a neonate with prolonged (2 months) intermittent unconjugated hyperbilirubinemia (without evidence of hemolysis or sepsis) is described in which a family study of the UGT1A1 gene shows that the infant carried a homozygous and a novel heterozygous mutation for the enzyme. Gilbert's syndrome was diagnosed.

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Pediatric Sudden Unexpected Death in Epilepsy (SUDEP)
Approximately 25,000 to 400,000 new cases of pediatric epilepsy are diagnosed each year, and though SUDEP in children is less common that in adults, it still occurs between 1.1 and 3.4 per 10,000 patients per year.

The most recent definition of SUDEP is "the sudden, unexpected, witnessed or un-witnessed, non-traumatic and non-drowning death occurring in benign circumstances in an individual with epilepsy with or without evidence of a seizure and excluding documented status epilepticus, in which post mortem examination does not reveal a cause of death". A variety of classifications have been proposed.

The underlying pathophysiology of death remains unclear with multiple cardio-respiratory-autonomic mechanisms being postulated.

Adolescent/childhood epilepsy patients and their parents should be made aware of SUDEP even though there appears to be no proven measure to reduce the risk.

An effective combination of Sanger and "next generation sequencing" (NGS) in diagnostics of primary ciliary dyskinesia (PCD)

PCD is a rare recessive inherited disease of many faulty autosomal genes contributing to an abnormality that affects the tiny hairline structures (the cilia) which line the airways and which in a wave-like manner transport mucus (and small particles/bacteria) cranially where it is coughed/swallowed/sneezed out of the body. Sperm cells have cilia-like structures and those affected with PCD may present with both variable severity and symptoms of recurrent respiratory disease, infertility and situs inversus.

A study of samples from 33 families with PCD members examined, by using Sanger sequencing with a NGS panel with 18 known and candidate PCD genes, indicates that the process is cost-effective, rapid and can reliably detect the causative gene in 66% of PCD patients.

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