Researchers at Aston University are working with Birmingham Women’s and Children’s Hospital to better understand the needs of children and young people with Silver-Russell syndrome.
The research team are inviting parents/carers of children aged 3-16 years with a diagnosis of Silver-Russell syndrome (SRS) to take part in a questionnaire study about neurodevelopmental, behavioural, and feeding characteristics of SRS.
Â
 This study will help to better understand the specific needs of children with SRS, so that children and families can be better supported. All families that take part will receive a £10 voucher as a thank you for their time.
How can families become involved?
If you would like to take part in the study, please express an interest by:
• Emailing: Courtney Greenhill (Research Assistant) – [email protected] • Telephoning and leaving a message: (+0044) 0121 204 4307
Â
You can then either request that more information is sent to you by post, or you can be given a link to a study where you can read more about the study and complete it online.
Â
Registering an interest does not commit you to taking part. You will have a chance to make your decision about getting involved once you have read the information sheets. 
Â
Who are the researchers working on this project?Â
 Â
This research is being led by Prof Jackie Blissett at Aston University. Members of the research team at Aston University, Birmingham Women’s and Children’s Hospital and the University of Birmingham are shown below!
Thank you very much for your interest in our work!
The GenROC (Genetic Rare conditions Observational Cohort) study has now been open for 9 months and is open at 21 NHS sites across the UK. 117 families have all of their initial questionnaires completed and another 100 are in the early stages of joining the study. However, that means they still have lots of spaces available for more families to join as they are aiming for a total of 500.
One of the specific aims in the study is to better understand the growth and development of children with these rare conditions and they are particularly looking at some new methods to devise growth curves that are specific to the genetic condition. This will be really helpful for families and doctors.
To be eligible you need to live in the UK, your child needs to be under 16 and your child needs to have an eligible genetic condition (and can only have one genetic condition). The list of conditions can be easily searched by clicking here.
The Overgrowth Syndromes Alliance (OSA) has been recently formed, and we’re really pleased that Child Growth Foundation are involved in this international alliance.
OSA Patient Priority Survey
The OSA developed a patient priority survey to gather the most important needs of their communities to share with researchers.
The data collected from the OSA Patient Priorities Survey was presented at the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington DC, October 15th-17th October 2023. Thank you for making your voices heard. You can view the 2023 NORD OSA Patient Priorities Poster here.
This survey will be open indefinitely and the OSA will revisit the responses annually. To take part in the survey click here.
OSA Scientific Meeting
The first OSA Scientific Meeting is being held in early 2024. Patient priorities across Overgrowth-Intellectual Disability (OGID) syndromes (Malan, Tatton-Brown Rahman, Sotos, Weaver, PIK3CA and Smith-Kingsmore) will be shared at this meeting. Researchers, clinicians and industry partners, all with an interest in overgrowth, will be in attendance.
The goal of the OSA is to promote patient-centred research that is of the greatest benefit to the larger OGID community.
Justin Davies, Gabriella Gazdagh, Deborah Mackay and Karen Temple
StratifID is the latest study by the Southampton Imprinting Research team and is funded by the Medical Research Council. The study aims to understand how a type of genetic change (multi-locus imprinting disturbance) affects growth, development and health in children with Silver-Russell Syndrome (SRS) and and other imprinting disorders.
We will stratify people with SRS, and other imprinting disorders, according to whether or not this genetic change is present and we will investigate the health consequences. This information will help medical teams to predict who will require specific interventions; medical therapy, nutrition, educational support etc, so we can optimise health in people with SRS over their lifetime. This could lead to a step change in personalised medicine for people with SRS.
Background
Our bodies are formed using the genetic ‘instruction book’ made of DNA, which we inherit from our parents. From our eyes to our toenails, every cell in our bodies contains the same DNA – but every cell uses it differently. DNA changes can cause genetic disorders that make people unwell from their birth. But some rare disorders aren’t caused by changes in DNA itself, but in how that DNA is used; these are called imprinting disorders. SRS is an imprinting disorder that happens when DNA that should be used from only one parent’s instructions, is instead read from both parents’ copies, or neither. People with SRS have reduced growth both before and after birth, so they need a care plan that fits them and helps them to thrive. But families and doctors know that one plan doesn’t fit all children with SRS; children vary in their growth, appetite, response to Growth Hormone, and many other ways, and we suspect that imprinting disturbances, more complex than currently recognised, underlie part of this variation.
What the team will do
We will recruit children with molecularly diagnosed SRS, and another imprinting disorder Beckwith-Wiedemann Syndrome. For each child we will create a detailed picture of their growth and development, and precisely map out the changes in how their DNA is used, and measure their metabolism using state-of-the-art tests (in a simple pee sample!). We will find patterns that link their imprinting disturbance with their clinical progress. If we stratify imprinting disturbances in this way, we can predict what management will be best for different people.
If you want to know more
The team behind this study would love to hear from families who have a child (ideally under ten years old) with molecularly diagnosed imprinting disturbances. The study will run for three years from September 2023. Most, but not all, children with molecular SRS will be eligible for the study. If you would like to learn more, please email [email protected] with the emailed subject ‘StratifID’.
GENROC study opens for recruitment in the UK: Improving the treatment for children with GENetic Rare disease: Observational Cohort study
This study has been set up by Dr Karen Low, a consultant clinical geneticist based in Bristol. Dr Low is particularly interested in genetic conditions that cause children to have developmental delay, intellectual disability and/or autism. She has conducted research into a number of syndromes particularly including KBG Syndrome, PUF60 related syndrome, and HUWE1 related syndrome. Dr Low is a member of the KBG foundation scientific advisory board, has organised a UK KBG family day in association with Unique and has written 4 of the Unique patient information leaflets. In her work in these syndromes Dr Low has seen how difficult it can be for families when not enough is known about their child’s genetic condition and how this can impact on their clinical care. Gene specific growth information is an area that is often lacking in many of these syndromes.
What is GENROC aiming to do?
The idea behind GENROC is to improve the amount that is known about a number of rare genetic syndromes. By understanding the syndromes better, doctors will know what is expected for a child with that particular condition and will therefore have a better idea about how to treat them and whether or not certain investigations might be needed. In particular, the hope is that by doing so the team will produce useful information for making clinical decisions such as gene specific growth curves.
How are they going to do it?
The GENROC team believe that parents of children with genetic syndromes know a lot about their child’s condition – often more than most of the child’s doctors! GENROC also recognises that many of the social media groups generate a lot of very useful data about these syndromes.
The team will collect data from different sources which will include from parents via online questionnaire. This will take place at the point of joining the study and then later as well allowing more insight in to how children are affected as they grow (rarely investigated in genetics research). The child’s genetics doctor will also be asked to send some information. The team will be looking at some additional interesting areas including whether websites and social media data can help and whether machine learning and data linkage might be possible and useful in improving clinical care in rare syndromes.
How can we take part?
At present the study team are looking for families with changes in specific genes only. Please see the below images to see if your child is eligible for GENROC. Eligibility criteria and the full parent information leaflet is available here.
The Child Growth Foundation wants to provide more psychological support for young people living with a growth condition.
As part of this ongoing work we have launched a project to find out more about young peoples’ experiences of mental health and living with an undergrowth condition.
We have teamed up with health psychologist Dr Lisa Hodges from Cognitiva Consultancy Ltd, whom the Child Growth Foundation have worked with before, to develop a questionnaire with a focus on undergrowth conditions.
The findings will be used to create a resource to help young people who are struggling with poor mental health.
Who should fill this in?
We are looking at the experiences and views of young people aged 11 to 25. There are a few questions for the parents/careers/guardians of young people and their views on young peoples’ experiences.
Anonymity & confidentiality
All answers will be kept completely anonymous (not identifiable) and confidential (private) and many people’s answers to each question will be combined, so no one will find out what each person has said. You may not even be able to spot your own answers.
Other benefits of taking part
You may find it helpful to write about your experiences. Writing about your experiences here is an opportunity to raise awareness and what you write may help another young person.
Where will my answers go? Will they be safe?
All your answers will be kept safe with the Child Growth Foundation and Cognitiva Consultancy and will only be seen by the team working on this project.
To receive a copy of the questionnaire and the supporting information pack including a Q&A for families, please contact Catriona at [email protected].
To express our thanks for taking part in this study, a £20 Love2Shop e-gift card will be provided to the first 20 young people who complete the questionnaire.
