SOTOS Syndrome Archives - Child Growth Foundation

Virtual Convention 2020

by Neil Hunter | Nov 20, 2020 | Convention, Virtual Convention

Virtual Convention 2020

In October we delivered our (un)usual annual convention, which means that traditionally, on these pages, we bring you gloriously amazing pictures of fancy dress frivolity featuring superheroes, Disney characters, festival hippies and so much more. This year, we bring you a zoom meeting…

Yes, it was different. Yes, it was COVID and yes, it was lockdown. But we made the best of it! We were actually very nervous about it. We had some fabulous speakers and presentations lined up. We had the wonderful membership family ready to engage. We had an army of volunteer support. But what if the technology lets us down? What if broadband breaks? What if Zoom melts?

What if Neil sent out the wrong link for the first day of the Convention and only discovered the error half an hour before it was due to start! Surely, that would never happen – erm, well yes it did, and he is still very embarrassed about it!

That hitch aside it all went swimmingly well. All three days were thoroughly engaging, interesting and informative. We shouldn’t really be surprised. The Child Growth Foundation is built on connecting parents & families with each other and with the very best experts in the field. And that is what we did again. Fantastic speakers but more importantly all those who attended came wanting to learn, wanting to ask, and wanting to share. We all agreed the lack of the physical togetherness was a shame, but do you know what – it still felt a very close and intimate day, it felt like we all connected and it turned out to be a very personal, and enjoyable few days.

A Convention, but not as we know it…

Saturday 24th October – SRS/IUGR/SGA

The first day covered SRS/IUGR and SGA and was kicked off by a live Q&A session with Dr Justin Davies, that could probably have gone on all day! It didn’t, which is just as well as there were some fabulous talks lined up. Dr Helen Storr provided an update on the GRASP project findings and Dr Deborah Mackay gave us an overview of genetic diagnosis of SRS and SGA, as well as an update on the SRS research study the CGF is currently funding. We broke for lunch, and some left their cameras on so we could see what they were having! Before we all returned for an afternoon that explored adult health issues in SRS with Dr Karen Temple and cognition and behaviour issues in SRS with Dr Megan Freeth. The day finished with a group chat.

The support from the speakers was fantastic, some were recorded and some were live and we have to say a huge thank you to Dr Temple who was actually on holiday, well coming home from holiday, and following her recorded presentation came on live from her car on the motorway (she wasn’t driving!) to answer questions. It was amazing of her to give that time to us, and we were delighted to see her get home safely and be welcomed home by a very excited puppy!

Dogs were quite a theme of the three days, with many zoom-bombing pooches stealing the limelight of the talks!

Saturday 31st October – GHD & MPHD

Day two covered GHD and hypopituitarism and again, was very well attended. It was opened by the wonderful Dr Harshini Katugampola with the fabulously titled presentation “It Takes Two to Tango” which covered growth and puberty.

This was followed by a live, and very hands on, presentation by Endocrine Specialist Nurse, Claire Westcott, who talked about emergency adrenal crisis, sick day rules and management. This session walked us through how to inject, with live demonstrations involving oranges and out of date medical equipment! The oranges felt no pain from the injections but sadly, the medication was out of date so no discernible growth benefit was recorded!

After lunch Dr Helena Gleeson provided a much-needed guide to transitioning to adult services and after that Nurse Specialist Helen Smart gave a thorough overview of management and treatment options for GHD & hypopituitarism . The day was again finished off with a group chat that ended with an impromptu musical performance!

Saturday 14th November – Sotos Syndrome

The third day of our convention focussed on Sotos Syndrome and opened with a presentation by Dr Megan Freeth on cognition and behaviour issues. After a short break we returned to hear a super introduction to Sotos Syndrome from Dr Kate Tatton-Brown, followed by many, many questions.

Then came the amazing double act of Dr Alison Foster and Dr Alice Welham who took us through Sotos syndrome the pre-teen years and then Sotos syndrome the adult years. It was a really well-developed programme that gave attendees much opportunity to discuss concerns, and the speakers hung around throughout, answering questions and providing guidance. The third day was incredibly well attended and the group chat to finish the event went on for some time with a great deal of bonding and peer support. We received a lot of offers of help to build up our Sotos support network and we are incredibly grateful and look forward to what we can build.

Communication Abilities of Children with Sotos Syndrome

by Neil Hunter | Apr 10, 2019 | Outcomes: external studies, surveys and research projects, Research, Sotos Syndrome

Communication Abilities of Children with Sotos Syndrome: Research Summary

by Chloe Lane, Megan Freeth, Louisa Robinson

Megan Freeth, Chloe Lane & Louisa Robinson

Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. Previous research has reported that individuals with Sotos syndrome often have communication impairments and delayed language development. However, the nature of these difficulties has not been explored in detail. Language and communication skills are fundamental for human interaction. Effective communication can facilitate learning and enable individuals to share information and ideas so it is important to identify the extent to which children with Sotos syndrome struggle with language and communication, as difficulties may impact upon learning and social development.

Two important communicative abilities are language structure and pragmatic language. Language structure refers to understanding the rules governing language, such as the ability to construct coherent sentences in which words are used in the correct order. Pragmatic language involves understanding how to use language appropriately, such as using language that is appropriate to the context. Some individuals may have better language structure skills or pragmatic language skills, so difficulty with one does not necessarily mean that an individual will also struggle with the other. To date, these communication skills have not been investigated in individuals with Sotos syndrome. So, the aim of our research was to establish whether children with Sotos syndrome have difficulty with these skills and if so, whether particular aspects of language and communication are more problematic than others.

Our study included 31 children with a diagnosis of Sotos syndrome, ranging in age from 4 – 16 years. Communication abilities were assessed using a questionnaire (The Children’s Communication Checklist, second edition (CCC-2)), which was completed by the parent or caregiver of each child. The CCC-2 has 70 questions which are designed to assess a range of communication abilities, including both language structure skills and pragmatic language skills, as well as social relations and restricted interests.

In terms of overall communication skills, we found that the majority of children with Sotos syndrome were reported by their parent or caregiver as having difficulties with language and communication. This was defined as having greater difficulty with language and communication than typically developing peers of the same age (children the same age with no diagnosed conditions). There was no difference between overall language structure skills and overall pragmatic language skills, indicating that children with Sotos syndrome have similar difficulty with both of these aspects of language and communication. Furthermore, the findings identified that language structure skills predict pragmatic language skills, meaning that better language structure skills result in better pragmatic language skills for children with Sotos syndrome.

Four specific language structure skills (speech, syntax, semantics and coherence) were compared in order to see whether children with Sotos syndrome had particular difficulty with any of these specific skills. The findings indicated that the participants were reported as having a similar degree of difficulty with all of the skills. Comparisons were also made between the four specific pragmatic language skills (inappropriate initiation, stereotyped language, use of context and nonverbal communication). The findings identified that children with Sotos syndrome were reported as having greater difficulty with use of context and nonverbal communication, compared with inappropriate initiation and stereotyped language. Furthermore, participants were reported as having particular difficulty with social relations.

Conclusions

Overall, the findings from this research demonstrate that the majority of children with Sotos syndrome struggle with language and communication skills and will therefore require support with the development of these skills. In particular, children with Sotos syndrome have difficulty with the consistency of communication across different situations, with understanding and using nonverbal communication, such as eye contact, gestures and facial expressions and with forming and maintaining relationships with peers.

For the full paper, please see: Lane, C., Van Herwegen, J. & Freeth, M. (in press). Parent-reported communication abilities of children with Sotos syndrome: Evidence from the Children’s Communication Checklist-2. Journal of autism and developmental disorders, doi.org/10.1007/s10803-018-3842-0