Information sources

B1. WHY IS THERE A NEED FOR THIS INFORMATION?

Many parents with a Crigler Najjar child tell of either missed diagnosis, or, after diagnosis, a lack of valuable, up-to-date information regarding treatment and management. (See “God’s Golden Children”, Question B2; Reference 2.)

While concerning, this is not surprising given the rarity of the condition. The vast majority of medical practitioners would not see a case of CNS in their career. The information on CNS in many medical textbooks is out of date and can give an overly pessimistic impression of the prognosis for survival. With appropriate and disciplined management this pessimism is misplaced, although the treatment may have significant impacts on lifestyle.

Because of the small number of patients, research work has been relatively limited. Nevertheless, excellent progress in understanding the condition exists in the medical and scientific literature, particularly recent literature. This literature is not easily accessible to laypersons. Busy clinicians, when faced with a possible CNS case, may not have the time required to research the literature.

To quote the authors of Reference 1 (Question B2), “The most significant obstacle to the prevention of kernicterus is not scientific ignorance, but inadequate education of parents and health care providers, and a failure to translate established concepts into practice.”

The aim here is to assist laypersons with an interest in the condition and to provide an initial introduction for medical professionals. The information in this website is only intended as a general introduction to the subject. It should not be used as a substitute for obtaining timely, specialised and experienced medical advice.

An attempt has been made to avoid the overuse of technical and medical jargon to ensure the information is as useful as possible to laypeople.

B2. WHAT ARE THE SOURCES OF THIS INFORMATION?

The information herein is derived from many research papers on individual aspects of the condition. Information is also drawn from papers presented at Crigler Najjar Symposia held in Rotterdam, Netherlands in April 2000 and Lancaster, Pennsylvania, USA in June 2003.

Reference 1
A most authoritative and up to date paper entitled Management of Hyperbilirubinemia and Prevention of Kernicterus in 20 Patients with Crigler Najjar Disease by Strauss, Robinson, Vreman, Puffenberger, Hart and Holmes Morton was published in the European Journal of Pediatrics. January 25 2006: p 1-14

Most of the patients described have the most serious form of CNS. This paper is essential reading for anyone seeking further information. It also provides an extensive bibliography referring to most aspects of CNS.

Reference 2
The book “God’s Golden Children” describes the experience of parents relating to diagnosis (or misdiagnosis) of the condition. It also contains valuable contributions by experienced professionals. It is available from Brookside Printing, 1420 Weaver Road, Millersburg, Pennsylvania 17061 US. The cost is US$10 plus postage.

Reference 3
Clinical practice guidelines for Management of hyperbilirubinemia in the newborn infant of 35 or more weeks of gestation. American Academy of Pediatrics, Subcommittee on Hyperbilirubinemia (2004 Pediatrics 114:297-316).

Reference 4
A detailed, but readable article on the mechanisms of bilirubin removal from the body entitled Bilirubin, Jaundice and Phototherapy by McDonagh and Lightner is published in Pediatrics: March 1985: Page 443 to 454.

Reference 5
A description of Porta-lights with LEDs underneath the user is to be found at:

An expandable, portable blue LED-based phototherapy system Vreman HJ, Wong RJ, Deese RE, Zimmerman LW, Hampton BH, Stevenson DK. Published at the 2003 Pediatric Academic Societies' Meeting, Seattle, WA, May 3-6, 2003. Pediatr Res 53:512A (#2895), 2003.

Reference 6
The web-site here describes the development of and experience with day phototherapy equipment.

B3. WHERE CAN FURTHER ADVICE BE OBTAINED?
Two centres in the world with valuable experience in the treatment of this condition are:

—The Sophia Children's Hospital, Rotterdam, The Netherlands

—The Clinic for Special Children, Strasburg, Pennsylvania, USA