Feedback invited for research project about congenital thyroid dyshormonogenesis among children

The BTF has been invited to support a study into the causes and impact of congenital hypothyroidism among children.

The research is being led by Dr Pia Hardelid, Lecturer in Epidemiology at UCL Great Ormond Street Institute of Child Health. Its focus will be on determining why more babies are being diagnosed with thyroid dyshormonogenesis and what the health and development is like for children with this condition as they grow up.

Dr Hardelid is interested in receiving comments and questions from families with children affected. She is particularly interested in hearing what families think about the research methods: linking and analysing data that are routinely collected in the NHS and in schools.

For more information, or to submit your suggestions of comments, please contact Dr Pia Hardelid

Dr Pia Hardelid explains more about the project below:

Why are we doing this project?

All children in the UK are offered screening for a number of rare conditions at five days of age. One of these conditions is congenital hypothyroidism (CH), which without early detection and treatment can result in severe learning disability. Since the introduction of newborn CH screening 40 years ago, there has been an increase in the proportion of babies born with CH, particularly a type called thyroid dyshormonogenesis. The thyroid gland in children with thyroid dyshormonogenesis does not produce sufficient hormones for healthy growth and development. We do not know why thyroid dyshormonogenesis is becoming more common, or how much it affects health, development and learning as children grow up.

What will we do?

The aim of this study is to determine why more babies are being diagnosed with thyroid dyshormonogenesis, and what health and development is like for children with this condition as they grow up. We will use data that are routinely collected in state schools and the NHS in North London and surrounding counties, including newborn screening records and clinical data on children with CH. We will link these data together to create health and education histories for children, including data on other health conditions, special educational needs and school grades. We will compare these histories between children with thyroid dyshormonogenesis, other forms of CH, and unaffected children.

How will this study help patients?

Our results will inform parents and children about the health and education consequences of congenital thyroid dyshormonogenesis, and clinicians about which treatment regimen is best for children’s health and development. The results will also advise public health professionals about if and how thyroid dyshormonogenesis can be prevented.