Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders

Abstract

Early diagnosis is a key objective in clinical medicine, and early detection of pathological short stature has tangible benefits for growth prognosis and the well-being of the child. Despite late diagnosis being common in growth disorders, programmes of height screening in primary care are not universal in developed countries and may be random or non-existent. A notable exception is automated growth monitoring in Finland, where an algorithm to detect abnormal growth is integrated into children's electronic health records, resulting in increased diagnoses of pathological short stature. Evidence-based anthropometric criteria for referral of short stature to secondary or tertiary care are now published, due largely to excellent studies in the Netherlands. Following referral of the short child, the protocol for laboratory investigations remains somewhat controversial because in healthy children their diagnostic yield can be too low for cost-effectiveness. However, outside of tertiary academic paediatric endocrinology centres, baseline screening tests are considered worthwhile and may speed up diagnosis and treatment. Finally, auxological cut-offs cannot replace good clinical practice, and the understanding that early and effective management depends on commitment to a diagnosis and individualisation of therapy in the short child cannot be overemphasised.

Pattern and Features of Pediatric Endocrinology Referrals: A Retrospective Study in a Single Tertiary Center in Italy

“…In the “Growth” group there was a high frequency of referrals, in sharp contrast with the low presence of actually pathological cases (one out of five), which is consistent with other reports ( 23 ); moreover, almost three out of 10 children did not require any test.…”

Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach

“…In addition, in many hospital paediatric endocrinology units, the developing role of the paediatric endocrinology nurse specialist has directly improved the quality of liaison with the family and contributes to the care of the child through the addition of a skilled HCP to the management team. Pharmacists, biochemists, psychologists, patient support groups and personnel from the pharmaceutical industry also make important contributions to the three key phases of growth management; namely identification of the initial short stature, investigation and diagnosis of the cause, and treatment with hormone therapy, where indicated, all of which implies a long-term commitment to a potentially invasive therapy ( 1 ). Early diagnosis and early initiation of growth hormone (GH) therapy is associated with improved long-term height gain ( 1 , 2 ).…”

“…We will discuss the challenges encountered by the patient and family through the experience of staff of the UK Child Growth Foundation (CGF), a patient support charity which advises families of patients with short stature. Current unmet medical needs of growth management will also be discussed ( 1 ) followed by a description of the psychological basis and management of poor adherence to GH treatment regimens ( 3 ). eHealth innovations will be covered, followed by the importance of HCP training in relation to acquisition of motivational skills for improved recognition and intervention in poor adherence situations.…”

Short Stature Diagnosis and Referral

“…Patients with idiopathic short stature (ISS) have no discernible cause, the condition is very heterogeneous and may be either familial or non-familial. In all cases, an early diagnosis is important and, therefore, height screening programs must be sufficiently sensitive and specific to ensure timely detection and treatment ( 11 ). The prevalence of pathological cases among children referred for short stature has been reported to range from 1.3 to 19.8% ( 11 ), depending on the criteria for referral.…”

“…In all cases, an early diagnosis is important and, therefore, height screening programs must be sufficiently sensitive and specific to ensure timely detection and treatment ( 11 ). The prevalence of pathological cases among children referred for short stature has been reported to range from 1.3 to 19.8% ( 11 ), depending on the criteria for referral. There are no indicators to suggest that pathological causes of growth failure have different prevalence in different countries, except for growth failure caused by malnutrition, which is obviously dependent on socioeconomic circumstances.…”