New study aims to improve care for people living with rare growth disorder

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Researchers in Southampton have carried out a novel study looking into the life experiences of people with a rare growth disorder, known as Silver-Russell syndrome (SRS).

Dr Lisa Ballard, who was the lead author on the study, hopes the findings will help families make more informed treatment decisions and provide better guidance for healthcare professionals on patient care strategies.

Bridging a knowledge gap

SRS is a rare genetic condition, characterised by slow growth before and after birth. Babies with SRS have a low birth weight and do not grow at expected rates. If diagnosed at a young age, patients receive growth hormone therapy to improve final adult height.

As well as growth restriction, characteristics of SRS include a large forehead, a triangular-shaped face and undergrowth of one side of the body, resulting in unequal (or asymmetric) growth.

Up to now, there has been limited information on the impacts of living with SRS. Using in-depth interviews, this latest study explored the experiences of 15 adult patients from around the UK to bridge this knowledge gap and, in turn, improve the long-term quality of life for people living with the condition.

Revealing new insights

“This is the first study to explore what it is like to live with Silver-Russell syndrome and has revealed that care and treatment strategies for young adult patients could be improved,” explained Dr Ballard.

“We found that, whilst doctors are able to treat height issues, people often consider other aspects of the condition to have greater impacts on their lives.”

This included issues such as pain, disability and fatigue in women – characteristics not previously associated with SRS – and body image concerns extending beyond height, due to asymmetric growth.

Study participants also reported they easily developed strong friendships but romantic relationships posed a challenge, with one male participant responding: “I had pretty low sexual self-esteem throughout my teenage years and I really struggled with forming relationships.”

Better support

“This study has revealed new insights into the challenges faced by people living with this rare condition,” explained Dr Ballard.

“It has highlighted that key physical and mental health issues, other than those related to height, are often overlooked.”

The findings, which are published in Archives of Disease in Childhood, suggest that people living with SRS may benefit from healthcare that focuses on the wider health impacts of this condition, such as pain management and body image.

The study team also recommend psychological services should be integrated into patient care strategies to provide additional support in childhood through to adulthood.

 

Posted on Tuesday 26 March 2019