Investigating sensory processing in children with rare genetic syndromes

How we process the world around us through our senses is essential to almost everything we do. When eating a meal our eyes and nose tell us what we are about to eat, our mouths inform us about the taste and texture of the food, our touch receptors and feedback from our limbs allow us to hold and use the knife and fork, and our ears detect the voices around the table. Our different sensory systems are continuously filtering the important information from the non-important information, allowing us to respond accordingly. Most of the time our brains and bodies are processing all of this information without us even noticing.

 

The eight sensory modalities

Children with sensory processing differences experience the world differently to others     . Sometimes, these differences mean children face challenges in their participation in everyday activities or in certain environments. Some children require more sensory input to detect a sensory experience (e.g., they may seem unaware of temperature changes) or they may seek out sensory input to meet their sensory needs (e.g., they may display a need to touch objects, surfaces or textures). Children may have increased sensitivity to sensory input (e.g,. they struggle to focus on a task in background noise) or they may become easily overwhelmed or avoid certain sensory experiences altogether (e.g., they refuse to go to the park because it’s noisy). Sensory processing differences can be highly individual and varied and different responses to sensory input can occur across different sensory modalities (e.g., a child may be over-sensitive to touch but under-sensitive to sound). Sensory difficulties can have a profound effect on daily life and have been associated with decreased activity, decreased school and social participation, increased anxiety, challenging behaviours, and poorer cognitive outcomes. Certain strategies can be used to support children’s participation by removing disruptive sensory input, helping children get the sensory input they are seeking, or by helping children build tolerance towards certain types of sensory input.

Previous research has shown children with rare genetic syndromes; Sotos syndrome, Tatton-Brown Rahman Syndrome, 16p11.2 deletion syndrome, and 16p11.2 duplication syndrome, commonly display autistic traits which may increase the likelihood of sensory processing differences. Compared to more common conditions, there is very limited research on the experiences of children with these syndromes. A better understanding of children’s experiences and potential difficulties is needed to provide information and support for children with rare genetic syndromes and their families. To date, no research has investigated the presence or type of sensory differences in any of these syndromes.

Our new research study, the Sensory Profiles in Rare Genetic Syndromes study will investigate the sensory processing of children aged 3-14 years old with Sotos syndrome, Tatton-Brown Rahman Syndrome, 16p11.2 deletion syndrome, and 16p11.2 duplication syndrome. The study will use a specially-developed questionnaire (completed by a parent or caregiver) to measure children’s sensory processing across the different sensory modalities (i.e. their “Sensory Profile”). The study will also include questionnaires to assess other aspects of behaviour that may be linked to sensory processing differences.

We hope that this research will provide important information that will support families of children with rare genetic syndromes and professionals who work with children with rare genetic syndromes. Understanding particular sensory differences can inform tailored strategies or treatment approaches to support children and families.

Parents or caregivers of children aged 8 to 14 years old with Sotos syndrome, Tatton-Brown Rahman Syndrome, 16p11.2 deletion syndrome, or 16p11.2 duplication syndrome can take part in the study from home. The questionnaires can be completed online or by post and the study is open to participants worldwide. Parents and caregivers will receive a summary of their child’s sensory profile after they take part. If you would like to find out more about the study or if you would like to sign up to take part, complete our contact form or email harriet.smith@sheffield.ac.uk.

You can find articles on ShARL’s previous work on these rare genetic syndromes below. Please email us at sharl@sheffield.ac.uk if you would like copies:

1. Lane, C., Tatton-Brown, K., & Freeth, M. (2020) Tatton-Brown-Rahman syndrome : cognitive and behavioural phenotypes. Developmental Medicine & Child Neurology, 62(8), 993-998
2. Al-Jawahiri, R., Jones, M., & Milne, E. (2020). Spontaneous neural activity relates to psychiatric traits in 16p11. 2 CNV carriers: An analysis of EEG spectral power and multiscale entropy. Journal of Psychiatric Research.
3. Al-Jawahiri, R., Jones, M., & Milne, E. (2019). Atypical neural variability in carriers of 16p11.2 copy number variants Autism Research, 12(9), 1322-1333.
4. Lane, C., van Herwegen, J., & Freeth, M. (2019).      Exploring the approximate number system in Sotos syndrome: Insights from a dot comparison task Journal of Intellectual Disability Research, 63(8), 917-925
5. Lane, C., van Herwegen, J., & Freeth, M. (2019).      Parent-reported communication abilities of children with Sotos syndrome: Evidence from the Children's Communication Checklist-2. Journal of Autism and Developmental Disorders, 49(4), 1475-1483
6. Lane, C., Milne, E., & Freeth, M. (2019).      The Cognitive Profile of Sotos Syndrome. Journal of Neuropsychology, 13(2), 240-252    

7. Lane, C., Milne, E., & Freeth, M. (2017).      Characteristics of Autism Spectrum Disorder in Sotos Syndrome. Journal of Autism and Developmental Disorders, 47(1), 135-143.