Towards an agreed approach to investigate children with developmental regression.

Abstract

Aim: Children presenting with developmental regression are inconsistently investigated, leading to unacceptable delays to diagnosis for some children. This study sought global expert opinion to develop an agreed approach to investigate children presenting with developmental regression.

Method: A Delphi survey collected clinician participant choice of investigations in response to case scenarios of children presenting with developmental regression and differing presenting features. Participants responded to two surveys, and consensus was achieved at 70% agreement. Results were analysed using descriptive statistics (number of responses and percentage agreement). Fifty participants completed the first-round survey, and 31 completed round two. Forty-eight percent of participants who completed both rounds had over 20 years of experience in caring for children with developmental regression. They represented four different clinician specialties and worked across five countries.

Results: For each of the four scenarios, there was agreement to recommend haematological, biochemical and genetic investigations as first investigations. Endocrine, metabolic and neurophysiological investigations reached consensus for scenarios based on presentation differences.

Interpretation: Participants agreed on first investigations to recommend for children presenting with developmental regression. This is an important initial step towards an agreed approach to investigate children with developmental regression needed to reduce inconsistencies in current care.