Using UK Personal Child Health Records (Red Book) to investigate early indicators of MPS disorders

Updated: Aug 21, 2020

Conversations between parents and the MPS Society suggested newborns with MPS disorders tend to be heavy. The MPS Society wondered at what point children with MPS go from an above to a below average growth and if there are any anomalies in milestones, which together could demonstrate a pattern indicating an early marker of an MPS disorder. Sanofi awarded the MPS Society a Patient Advocacy Leadership Award to research possible early indicators of MPS disorders to be able to improve and facilitate the diagnosis pathway of patients. If general practitioners and clinicians are alert to signs of MPS disorders in children, patients could benefit from an early diagnosis and improve their long-term prognosis.

The UK’s Personal Child Health Record, or ‘Red Book’ as it is more commonly called, is given to parents/carers at a child’s birth. Healthcare professionals update the record with measures of growth and milestones each time the child is seen in a healthcare setting for the first few years of their life. This study involved an online survey to collect these Red Book records from participants recruited via MPS Society’s membership. The MPS Society enlisted Rare Disease Research Partners* to conduct this project.


The objectives of the project were to:

  • Examine early characteristics of children with MPS disorder (from pregnancy to childbirth, to developmental milestones)

  • Identify patterns of birth characteristics and growth (weight, length, head circumference) in newborns/ children with MPS disorder

Main findings

  • Data on pregnancy and birth did not show any specific patterns

  • Most MPS disorders showed signs and symptoms of the disorder within the first year