Team starts pioneering study on children’s rare sensory syndromes

THE FIRST research of its kind in Yorkshire is being launched to help support children with rare diseases.

A team of scientists from the University of Sheffield is starting a new research project which aims to improve provision for families and children with

The team, from the institute’s Autism Research Lab (ShARL), is investigating the sensory profiles – a measure of a child’s response to everyday sensory events – of children with Sotos syndrome, Tatton-Brown Rahman rare genetic syndromes.

syndrome, 16p11.2 deletion syndrome and 16p11.2 duplication syndrome.

The profiles may relate to hearing, vision, touch, taste or smell, body movement or how a child feels in certain situations.

Children with these rare genetic syndromes, such as Sotos syndrome, 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.

Dr Megan Freeth, who is the lead investigator for the study, said: “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.”

The aim is to create tailored strategies and treatment approaches for families of children with these rare syndromes as well as professionals in education or healthcare.

Sotos syndrome affects about 1 in 14,000 people. It stems from a mutation in the gene NSD1, which leads to an enlarged head.