Researchers hope to improve provision for children with rare diseases

  • Scientists at the University of Sheffield are researching how children with rare genetic syndromes respond to everyday sensory events
  • The research will be the first to inestigate sensory processing differences in children with genetic syndromes like Sotos syndrome
  • Findings will help families and healthcare professionals to develop tailored treatment approaches for children
  • The researchers want to raise awareness of the syndromes for Rare Disease Day (Sunday 28th February) and their impact on the people who live with them

A team of scientists from the University of Sheffield are starting a new research project which aims to improve provision for families and children with rare genetic syndromes.

The team, from the University of Sheffield’s Autism Research Lab (ShARL) funded by The Children’s Hospital Charity, are investigating the sensory profiles of children with Sotos syndrome, Tatton-Brown Rahman syndrome, 16p11.2 deletion syndrome and 16p11.2 duplication syndrome.

Children with these rare genetic syndromes commonly display autistic traits which may increase the likelihood of sensory processing differences, however to date, no research has investigated the sensory processing of children with these syndromes.

A sensory profile is a measure of a child’s response to everyday sensory events. This may relate to hearing, vision, touch, taste or smell, body movement or how a child feels in certain situations.

Children with sensory processing differences experience the world differently to others. For example, they may need more sensory input to detect an experience such as being unaware of temperature changes or they may seek out sensory input like showing a need to touch objects or textures.

Other children may have increased sensitivity to sensory inputs or become easily overwhelmed and avoid certain experiences altogether, such as refusing to go to a park because of the noise.

The team hopes their research will provide important information to families of children with these rare syndromes as well as professionals in education or healthcare, and help to inform tailored strategies or treatment approaches.

With such limited research on the experiences of children with rare genetic syndromes, we need a better understanding of children’s experiences and potential difficulties to provide information and support for children with rare genetic syndromes and their families.

Harriet Smith

Postdoctoral Research Associate at the University of Sheffield

Harriet Smith, who coordinates the research project from the University of Sheffield, said: “Sensory difficulties can have a profound effect on a child’s daily life, they are associated with decreased activity, decreased school and social participation as well as increased anxiety, challenging behaviours, and poorer cognitive development.

“With such limited research on the experiences of children with rare genetic syndromes, we need a better understanding of children’s experiences and potential difficulties to provide information and support for children with rare genetic syndromes and their families.”

Dr Megan Freeth, who is the Principle Investigator on this project explained: “We are really excited to be conducting this project as knowledge of the impact of these syndromes is currently poor. This can cause huge difficulties for families as it is not clear how people with these syndromes can be best supported. This is something we are hoping this work will improve.”

Clare Wood, a parent of children with Sotos syndrome, said: “It is really important to us as parents, that research is conducted into the sensory differences they experience, and how that relates to the autistic traits. We need a greater understanding of how these issues affect our children so that we can make their lives better. It will help raise understanding among professionals in healthcare and education, which will mean they can tailor treatments and strategies to the individual’s needs.”

The research is supported by almost £25,000 of donations to The Children’s Hospital Charity. It forms part of the Charity’s commitment to spend up to £250,000 every year on research projects to help ensure future generations receive the very best healthcare through better diagnosis and treatment.

Angela Dunn, Grants and Projects Officer at The Children’s Hospital Charity said: “We are delighted to partner with the University of Sheffield on this project, which has the potential to make a life-changing impact for children with rare conditions and continues our support for the city’s world-leading institutions and research base.”

The team also works closely with the Child Growth Foundation (CGF), which provides information, advice and support to children and families affected by rare genetic and endocrine growth conditions. The CGF also provides a range of resources for health professionals; and funds targeted research to improve the health and life chances of those with a growth condition.

Nick Child, Chair of Trustees at the Child Growth Foundation, said: “We welcome the news about this exciting study from the ShARL team. The lack of understanding about overgrowth conditions and the impact, and isolating effect that can have on the lives of those affected, can be devastating. The more that research can uncover, the better the support that can be provided, and we eagerly look forward to the results.”

Rare Disease Day is a global event that will take place this year on Sunday 28 February. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on the individuals who live with them.

ShARL will be participating in this year’s Rare Disease Day by producing a blog series and information videos about their ongoing work in rare genetic syndromes which will be shared on their website and via social media.

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