No abstract

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Then, relevant clues from the medical history and physical examination are reviewed, and specific investigations based on clinical suspicion listed. In the absence of abnormal clinical findings, an X-ray of the hand/wrist and a laboratory screen are usually performed. Scientific evidence for the various components of laboratory screening is scarce, but accumulated experience and theoretical considerations have led to a list of investigations that may be considered until more evidence is available.

Background: As abnormal growth might be the first manifestation of undetected diseases, it is important to have accurate referral criteria and a proper diagnostic work-up. In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders.

Background/Aims: Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature. Methods: A short questionnaire, containing questions on auxological screening and on diagnostic criteria for short stature, was sent to all members of the European Society of Paediatric Endocrinology (ESPE) and to several pediatric endocrinologists outside Europe. Results: Responses were received from 36 countries. In 27 (75%) a child health care program existed and in 14 (39%) there was a protocol for referral of children with growth retardation. Height for age was mostly used as a referral criterion. Sixteen countries (45%) reported having a guideline in secondary health care for diagnostic work-up. Although all countries agreed on having biochemical, radiological and/or genetic tests in the diagnostic work-up, there was a wide variety of recommended tests. Conclusions: There is little consensus on referral criteria and diagnostic work-up of children with short stature among industrialized countries. There is a need to establish evidence-based guidelines.

Background/Aims: Cystic fibrosis (CF) in infancy and childhood is often associated with failure to thrive (FTT). This would suggest that in countries without a newborn screening program for CF, FTT could be used as a clinical screening tool. The aim of this study is to assess the diagnostic performance of FTT for identifying children with CF. Methods: Longitudinal length and weight measurements up to 2.5 years of age were used from CF patients (n = 123) and a reference group (n = 2,151) in The Netherlands. Growth measurements after diagnosis were excluded. We developed five potential screening rules based upon length, weight and body mass index (BMI) standardized by age and gender (SDS). Outcome measures were sensitivity, specificity and positive predictive value (PPV). Results: BMI SDS had the highest sensitivity at low false-positive rates. An efficient scenario is a BMI SDS below –2.5 SD in combination with a decrease in BMI SDS of at least 0.5 SD. This scenario had a sensitivity of 32%, a specificity of 98.3% and a PPV of 0.75%. Conclusion: In the absence of a newborn screening program, young children with FTT for BMI are candidates to consider testing for CF.