Investigating Children with Developmental Regression: A Call for Consistency

Researchers at Monash University have recently conducted a study to develop a standardized approach to investigating children presenting with developmental regression. The study collected global expert opinion from 50 clinicians, representing four different specialties and working across five countries. The results showed that participants agreed on the first investigations to recommend for children with developmental regression, including haematological, biochemical, and genetic tests. This consensus is a crucial step towards reducing inconsistencies in current care and improving diagnosis for these children.

Key Takeaways:

• The study aimed to develop an agreed approach to investigate children presenting with developmental regression, a condition that is often inconsistently investigated.
• A Delphi survey collected clinician participant choice of investigations in response to case scenarios of children presenting with developmental regression.
• Fifty participants completed the first-round survey, and 31 completed round two, representing four different clinician specialties and working across five countries.
• Participants agreed on first investigations to recommend for children presenting with developmental regression, including haematological, biochemical, and genetic tests.
• Endocrine, metabolic, and neurophysiological investigations reached consensus for scenarios based on presentation differences.
• Forty-eight percent of participants who completed both rounds had over 20 years of experience in caring for children with developmental regression.
• The study concluded that participants agreed on the first investigations to recommend for children with developmental regression, marking an important initial step towards a standardized approach.
• The research was financially supported by Monash Health and the Central Clinical School, Faculty of Medicine, Nursing And Health Sciences, Monash University.
• Additional authors for this research include Michael Absoud, Kirsten Furley, Matthew Hunter, Michael Collingwood Fahey, Gauravi Gawade, Chirag Mehra, and Robin Kochel.

Statistics:

• 50 clinicians participated in the study, representing four different specialties and working across five countries.
• 48% of participants who completed both rounds had over 20 years of experience in caring for children with developmental regression.
• 31 participants completed the second round of the survey.
• 70% agreement was achieved among participants regarding the first investigations to recommend for children with developmental regression.

Sources:

• "Towards an agreed approach to investigate children with developmental regression." BMJ Paediatrics Open, 2025,9(1).
• NewsRx. Study Findings on Pediatrics Discussed by Researchers at Monash University. Health & Medicine Week. October 24, 2025; p 8100.