Research project: What are the neurodevelopmental, behaviour and feeding issues in children and young people with Silver-Russell syndrome?

Research project: What are the neurodevelopmental, behaviour and feeding issues in children and young people with Silver-Russell syndrome?

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.

 
 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
 
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.
 
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. 
 

Who are the researchers working on this project? 

  
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!
StratifID – Stratifying Imprinting Disorders

StratifID – Stratifying Imprinting Disorders

StratifID – Stratifying Imprinting Disorders

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’.

Event: Shining a Light on Silver-Russell Syndrome

Event: Shining a Light on Silver-Russell Syndrome

We’re really pleased to share the upcoming event ‘Shining a Light on Silver-Russell Syndrome’.

 

Taking place on Rare Disease Day 2023, join the online event to find out about this rare genetic condition SRS / RSS including lived experience, research, clinical and charity support.

Running 6pm – 7.30pm on Tuesday 28th February, you can reserve your free space through Eventbrite and we’ve shared more details on the event from the organisers below.

 

Register your free place

 

Join us for this online event on Rare Disease Day 2023, find out about how rare genetic conditions, like SRS, are diagnosed and hear about what it’s like to live with Silver-Russell syndrome (SRS).

People living with genetic disorders and cancers are at the heart of our research at the Institute of Genetics and Cancer (IGC), the University of Edinburgh. The mission of MRC Human Genetics Unit (HGU) within our institute is to increase understanding of how mutations (inherited and acquired) cause genetic conditions and cancer.

The MRC Human Genetics Unit is tackling the huge issue of how we interpret the genome (the complete set of DNA within a species) to better understand and treat human disease. Our researchers work hand in hand with NHS staff, including doctors and the NHS testing services, and people affected by genetic disorders.

Millions of human genomes have been sequenced around the world but understanding the significance of genetic variation at the level of molecules, cells, tissues, or people lags behind. The MRC HGU is tackling this challenge by investigating the mechanisms of how genetic variants affect disease.

Silver-Russell syndrome (SRS), also called Russell-Silver syndrome (RSS), is a genetic condition and rarely, it can be inherited but most people who have RSS don’t have a family history of the disease. Globally, 1 in 15,000 people are born with this condition.

Diagnosis of RSS can be difficult because many GPs and Paediatric Consultants may not be familiar with this condition. People born with this condition are born small and often have limb or facial asymmetry (irregularity). Growth is affected during childhood and this means that adults with RSS have significantly shorter statures than average.

Symptoms of RSS range from mild to severe, so that these symptoms can go undetected. In some people with RSS, a genetic change is found: 40-50% are found to have a problem on chromosome 11 and in another 5-10% on chromosome 7. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited – in an autosomal dominant or autosomal recessive manner.

Treatment is focused on managing the symptoms of RSS. As the first few years of life are very important in child development, treatment for RSS focuses on treating its symptoms so that children can develop as normally as possible. As patients grow older, many symptoms improve.

Online Programme

18:00: Welcome & Housekeeping: Dee Davison, IGC Public Engagement Manager

18:10: Conversation between Dr Mary Porteous, Clinical Lead, NHS South East Scotland Rare Disease Genetic Service and Gracie Taylor, who is living with RSS. Mary will outline how the Gracie’s diagnosis was made clinically, and then confirmed on further genetic testing, when Gracie was six months old. Gracie will describe her diagnostic journey and how she lives with RSS – her symptoms, the treatments she has received and her hopes for the future.

18:40: Dr Emma Wakeling, Clinical Consultant, Great Ormond Street Hospital & Scientific Advisor with the Child Growth Foundation.

18:55: Jeff Bolton, Chair, The Child Growth Foundation.

19:00: Q&A

19:30: Event ends

ONLINE: Zoom. Joining instructions will be emailed prior to the event.

Gracie Taylor

Gracie is living with Silver Russell Syndrome and is currently in her second year of a Biomedical Sciences degree, specialising in Pharmacology, at UCL. “Initially, my curiosity about the human body began as I realised that my body worked a little differently to everyone else’s. This curiosity shaped my degree choice as I felt like Silver Russell gave me a unique appreciation of just how powerful and impactful biomedical science is. Living with a condition like Silver-Russell, whilst maintaining a busy and fulfilled university life doesn’t come without its challenges. However, despite the added layer of complexity that comes with a rare condition like Silver-Russell, I am living an incredibly independent and normal student life. I want to share my experiences, both as a child and now as a young adult, and by doing so shine some light on RSS and the need for these important conversations about these rare conditions.”

Dr Mary Porteous

Mary was appointed as the first NHS Consultant Clinical Geneticist in Edinburgh in 1992. Mary is currently Service Lead for the SE Scotland Genetic Service and is an honorary Professor at the IGC. Mary’s first exposure to Genetics was as an MSc student in Glasgow where Mary spent many hours clinically characterising Aarskog syndrome (an X-linked short stature syndrome) and mapping the FDG1 gene responsible for Aarskog syndrome. Mary trained in Newcastle under the supervision of Professor John Burn. Mary’s research initially focussed on gene mapping and cloning collaborating with Doug Marchuk (Duke university) and her husband Austin Diamond (then also at Newcastle) in the mapping and cloning of ENG and ACVRL1, the major genes involved in Hereditary Haemorrhagic Telangiectasia.

Mary was the Clinical Genetic lead on implementation of the Scottish Government ‘Calman Report’, which lead to a significant increase in funding for genetic services. In 2009, Mary chaired the Scottish Government Molecular Pathology Review Group that established the principle of central funding for genetic services via the Scottish Genetic Consortium. As a clinician, Mary’s research focus has more recently been around the translation of research discoveries into the NHS diagnostic sphere. Over her career, Mary has developed long lasting collaborations with colleagues in the IGC, particularly with Malcom Dunlop and Charlie Gourlay, resulting in several publications. Mary was a Director on the Board of the Scottish Huntington’s Association for many years and is a strong believer in partnership between patients, family members and professionals in tackling the impact of inherited disorders.

Dr Emma Wakeling

Dr Emma Wakeling is a Consultant in Clinical Genetics and Genomic Medicine with the North East Thames Regional Genetic Service, Great Ormond Street Hospital. Emma sees patients with a wide range of childhood genetic disorders and has a specialist clinical and research interest in disorders of imprinting and growth failure, including Silver-Russell syndrome (SRS). Emma qualified with an MA from the University of Oxford (1989) and MBBS from the United Medical and Dental Schools of Guys and St Thomas’ Hospitals (1992). Emma was awarded a PhD by the University of London in 1999 for her work researching the underlying molecular cause of SRS. Emma was appointed as a Consultant at North West Thames Regional Genetic Service in 2004, where Emma was Clinical Lead from 2015 – 2018. From 2019, Emma has been a consultant at North East Thames Regional Genetic Service, based at Great Ormond Street Hospital (GOSH). Emma’s work focuses on diagnosing rare genetic conditions in patients with complex paediatric disorders. Emma runs a specialist clinic jointly with the endocrine team at GOSH for children with suspected or diagnosed disorders associated with early growth failure, including SRS. Emma is Medical Advisor to the Child Growth Foundation and the SRS Global Alliance.

Jeff Bolton

A BSc (Hons) and MBA graduate, Jeff joined the pharmaceutical industry in 1990. Jeff first worked for Janssen-Cilag, where he performed a number of commercial and marketing management roles. Jeff joined Pfizer in 2002 as Senior Brand Manager in the Endocrinology Team and transitioned into a European marketing role in 2006. Jeff became European Brand Director in 2010. Jeff left Pfizer in 2016 to start his own consultancy company, JRB Consultancy Services Ltd. Jeff has been involved with growth conditions for over 20 years, and has won numerous awards, both national and international, for his role in developing campaigns and support information and materials for families affected by growth conditions. Jeff was the European lead for the development of the first growth prediction tool, iGRO, which was sponsored by Pfizer, and has since been rolled out in more than 25 countries. Jeff has been a trustee of the Child Growth Foundation for over two years and became their Chair in 2022.

WEBSITES:

• NHS UK: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/silver-russell-syndrome/#:~:text=Silver%2DRussell%20syndrome%20(SRS),Clinical%20features

• NIH USA: https://rarediseases.info.nih.gov/diseases/4870/russell-silver-syndrome

• Russel Syndrome Org (Global Alliance for RSS): https://silverrussellsyndrome.org/

• Child Growth Foundation: https://childgrowthfoundation.org/

• Magic Foundation (USA): https://www.magicfoundation.org/About/

• Global Genes: https://globalgenes.org/

• NHS South-East Scotland Rare Disease Genetic Service: https://weare.nhslothian.scot/geneticservice/clinical-genetic-service/

• Genomic Data Analysis Centre (GDAC): https://www.ed.ac.uk/institute-genetics-cancer/facilities/the-genomic-data-analysis-centre

ANY QUERIES

Email: IGC Public Engagement (Dee): [email protected]

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Gastrostomy in Growth Conditions

Gastrostomy in Growth Conditions

Feeding Difficulties and Gastrostomy in Growth Conditions

Some babies born small for gestational age (SGA), or those with a diagnosed growth condition such as Silver-Russell Syndrome may experience feeding difficulties. This can range from mild to severe and can be a very stressful time for a parent or carer.

If a baby or child is experiencing feeding difficulties and their growth and health is being affected, they usually have assessments and investigations to determine the cause of the feeding difficulties. They may also have several different specialists supporting them, such as a dietician, speech and language therapist and a paediatrician. The specialists may prescribe high calorie milk and develop feeding plans and strategies with the parent/carer to help with weight gain. However, for some children/babies, the feeding difficulties may be so severe that they might require additional support to ensure they have enough nutrition to help them grow, develop, and keep them healthy. Assessing and deciding on supplementing nutrition with tube feeding is made on an individual basis, taking into consideration the child’s age, medical needs, and the period of time for which nutritional support is likely to be required. A first option could be to give feeds through a nasogastric tube. This is a thin plastic tube inserted into the nostril and passed down the food pipe into the stomach. While this is an effective way of feeding directly into the stomach, it is seen more as a short-term solution to boost calorie intake.

A solution that provides sustained calorie intake is to fit a gastrostomy tube, sometimes referred to as a gastrostomy peg or feeding tube. This has the benefit of being less visible than the nasogastric tube but, it is usually only inserted if there is a need for the child to receive nutrition in this way on a long-term basis.

What is a gastrostomy?

A gastrostomy is a surgical opening through the skin of the abdomen to the stomach. A gastrostomy tube is put into this opening so that special feeds, that contain extra nutrients, can be given directly into the stomach. There are different types of gastrostomy’s available, the medical team alongside the family will decide which type of gastrostomy is most suitable for the child. A short operation under a general anaesthetic is required to insert the gastrostomy, following the operation, the parents/carers will then start to receive training from the hospital/ward staff on how to use and care for the gastrostomy. A community nurse and or gastrostomy nurse specialist usually continue to train and support families at home in managing their child’s gastrostomy.

Using a Gastrostomy

When a child has a gastrostomy, the family alongside the doctor, dietician and speech and language therapist should agree how and when it will be used to give the feeds. The best interests of the child should be the primary goal, just because the gastrostomy tube is in place doesn’t mean they will be fed solely in that way, depending on the child’s health needs they may have overnight feeds into the gastrostomy or ‘top up’ feeds after family mealtimes. Sometimes a special electric pump is used to deliver the feed over a period of time, or the child could have ‘bolus’ feeds which can be given using the pump or a syringe.

Further Support

You can find out more about gastrostomy feeding by downloading this Great Ormond Street Hospital guide:

Or, you can contact us

0208 995 0257

Diagnosing Silver-Russell Syndrome

Diagnosing Silver-Russell Syndrome

Diagnosing Silver-Russell Syndrome

Getting a diagnosis of a rare condition, such as Silver-Russell Syndrome can be a drawn-out process. In the UK, it can take over four years, on average, to get an accurate diagnosis of a rare condition. This can be a frustrating time for parents, and all concerned. It can also be a time of wrong-turns, dead-ends and misdiagnoses. It is crucial to get the diagnosis right, as the diagnosis often determines management and support options.

Diagnosing SRS poses particular problems as there is often a large overlap of SRS symptoms with many different conditions. A crucial breakthrough in Poblet, Spain, in 2015 saw 36 leading international SRS specialists agree, by vote, and representatives from patient support groups, including the CGF, the elements that are distinctly SRS. And a year later the conclusions of this meeting were published as the First International Consensus Statement regarding Silver-Russell Syndrome. Consensus statements are vital for increasing understanding and awareness of rare conditions, which greatly improves the diagnosis process. The consensus statement regarding SRS recommended using Netchine-Harbison Clinical Scoring System (NH-CSS) as a tool for clinically diagnosing SRS.

Consensus Statement

A consensus statement is a public statement on a particular aspect of medical knowledge, agreed by a representative group of experts to be evidence based, they are vital for increasing understanding and awareness of rare conditions, which greatly improves the diagnosis process. The consensus statement regarding SRS recommended using Netchine-Harbison Clinical Scoring System (NH-CSS) as a tool for clinically diagnosing SRS.

What is the NH-CSS/How Does it Work?

The scoring system identifies six factors (clinical criteria) that are considered statistically strong indicators of Silver-Russell Syndrome. It actually works by statistically ruling out Silver-Russell Syndrome and therefore, if it can’t be statistically ruled out then SRS becomes a strong possibility. If the patient scores 3 or less out of 6 they are determined not to have a clinical diagnosis of SRS (however a score of 3 can result in continued clinical suspicion). The scoring system is relatively straight forward, it is a score of 1 if that indicator is present, and it is a score of 0 if it isn’t. The end result is a score out of 6, which makes it easy for a physician to interpret and is flexible enough to allow for some missing information.

What are the Six Clinical Criteria?

SGA (small for gestational age – birth weight and/or birth length)

SGA is a term given to a baby that is born smaller than normal compared to other babies born at the same gestational age (read more).

Score a point if: the baby is equal to/or less than 2 standard deviations (SDS) below average. Standard deviation is a measure of how spread a measure is around the average (or mean), in this case weight and/or length of babies born at the same gestational age. This would mean the baby is in about the smallest 2% of all babies born at that gestational age.

Postnatal growth failure

Is a term (and not a great one, because you haven’t failed at anything!) used to describe babies that are not growing as expected/normal following birth.

Score a point if: the baby’s height at around 24 months is less than 2 standard deviations below the average for babies at the same age. OR the baby’s height is 2SDs below the mid-parental target height.

Bell Curve explaining SDS

Standard Deviation

Standard deviation is a number used to tell how measurements for a group are spread out from the average.

The lower the number, the closer it is to the average, the higher the number the further it is from the average.

The bell curve above shows that 2SDs (the dotted lines) below the middle point represents around 2% of the population.

Relative Macrocephaly at Birth

Macrocephaly means your baby’s head is larger than other babies of the same sex and same age, measured by head circumference. Relative macrocephaly considers the size of your baby’s head against their weight or length.

Score a point if: your baby’s head circumference at birth is equal to/or greater than 1.5 SDS ABOVE their birth weight and/or length SDS. For example, if your baby’s birth weight was -2SDS and their head circumference was -0.5SDS then they would score a point.

Protruding Forehead

Also known as frontal bossing, this is where your baby’s forehead sticks out beyond their face when looking at them side on.

Score a point if: your child has a protruding forehead between the ages of 1 to 3.

Body Asymmetry

This is where all, or part of one side of the body is smaller than the other.

Score a point if: there is a leg length discrepancy (LLD) of 0.5cm or more or, there is arm or leg discrepancy that is less than 0.5cm but two other parts of the body are asymmetrical.

Feeding Difficulties and/or Low BMI

Body mass index gives a figure that compares weight against height, and in children also considers age and gender. It is used to give an idea of how healthy your weight is.

Score a point if: the BMI score is equal to/or less than -2 SDS at 24 months old. Or, score a point if your child is using a feeding tube.

Clinical Diagnosis

If the child being examined scores 4 or more on the NH-CSS then it is recommended they have genetic testing. The genetic testing may confirm Silver-Russell Syndrome. However, the testing might come back “normal”, which means no genetic cause has been found.

If this happens then the score of 4 or more on the NH-CSS can be used to give a clinical diagnosis of SRS, BUT only if the clinical criteria that scored a point includes BOTH protruding forehead and relative macrocephaly at birth. The large head in relation to weight at birth is a distinguishing characteristic of SRS that almost all SRS children have. But macrocephaly can be present in other conditions too, which is why it should be used as an indicator of SRS unless other clinical criteria have also been identified.

Get in Touch

If you have any concerns regarding any of the above, or want to chat to us about it, please get in touch:

Email Us or Call us on: 0208 995 0257

Silver-Russell Syndrome Height and BMI Study

Silver-Russell Syndrome Height and BMI Study

New Silver-Russell Syndrome Study

Latest research supports the use of growth hormone treatment in Silver-Russell Syndrome for increasing height SDS (standard deviation score). Growth hormone treatment was also associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.

The observational study collected height and height gain data, plus BMI data, from 71 people diagnosed with Silver-Russell syndrome.

Click below to read more about the study

Height & body mass study in Silver-Russell Syndrome

 

Or click HERE to find out more about Silver-Russell Syndrome.

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