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

Annual Convention 2019

Annual Convention 2019

Annual Convention 2019

The 2019 CGF Annual Convention was held at the end of October at the Warwick Hilton, just outside Stratford-Upon-Avon. It was a wonderful success and with the theme of ‘festival’, a glam-tabulous time was had by all.

The weekend was very well attended, with numbers slightly up on the year before, and we were fortunate enough to have a fantastic array of health professionals with a wealth of knowledge and experience behind them, including: Dr Kate Tatton-Brown who gave an overview on Tatton-Brown Rahman Syndrome, Dr Sue Jackson delivering a presentation on pituitary research with young people, Dr Trevor Cole gave an overview of Sotos Syndrome and Dr Reena Perchard who updated attendees on the BabyGRO study.

Other highlights included a joint presentation by Dr Alice Welham and Dr Chloe Lane on Emotional Difficulties with Sotos Syndrome and a presentation by Dr Claire Higgins on a psychological approach to eating difficulties. On the Saturday afternoon there was a talk by IPSEA who delivered on the cross-condition topic of ECHP and Education Law. The Southampton team, including, Professor Karen Temple, Dr Justin Davies & Professor Deborah Mackay, updated the SRS/SGA group on the latest developments.

The whole line up led to a very well-rounded series of talks and presentation, which hopefully meant something for everyone.

The children were taken good care of with creche facility and the gaming room. The theme in the evening was very popular with many children and adults getting into the festival spirit. Tom and Michaela put on an entertaining show for us and much dancing was done!

Feedback

“it was a really great event and amazing speakers, we did enjoy our time thank you”

“First time there I found it really interesting and helpful. Felt really welcomed and not alone.”

“A wonderful, informative, occasion filled with positivity and joy. Thank you.”

Robert’s Story

Robert’s Story

Robert is an undiagnosed child. Multiple Pituitary Hormone Deficiency has been identified as a part of his condition and treatment is able to be given for this. Here his Mum tells us about Robert’s first year.

I had a problem free pregnancy and at 35 weeks I was stood talking to a colleague when I realised my waters had broken (like something from a comedy film) and I should possibly go and be checked out at the local hospital.

That night our beautiful boy was born and despite arriving safely he stopped breathing and had to be whisked off to the Special Care Baby Unit.

Once I was sorted out and on the postnatal ward I sat there for hours with a little instant picture of Robert, on my drip, being brought cups of tea and toast. I kept asking to go and see him. I kept being told that a doctor wanted to come and speak to us. I was totally naive at this point,oblivious to the fact this could mean something bad. I also remember being elated to get my own room, but with hindsight this was probably also not a good sign.

A Neonatal Consultant and the nurse looking after Robert that day came to speak to us, as soon as they arrived I realised the game had changed. We were told Robert had deteriorated and was needing a lot more support from the ventilator. He was also floppy, they suspected a brain injury and were cooling him to prevent it getting worse. He looked a bit unusual and they thought he probably had some sort of syndrome. The future for him was uncertain, he might have profound disabilities or he might be relatively “normal”. Nobody could say and it would be a long road before we got any answers.

The consultant delivered the news so clearly and so well but I think my heart broke into a million pieces during that conversation. The fact that Robert was going to face a lot of challenges did not really sink in, I just wanted to know if he was going to live. There was no worries about that.

I wiped my tears and realised I needed to see Robert. A kind healthcare assistant got me sorted and wheeled me down whilst my husband called our families to update them.

I saw Robert lying in his little babytherm cot so small and helpless and cold and I loved him more than anything in the world.

In the next few days instead of the predicted improvement everything got worse and I was scared at one point as the doctors seemed to really be scratching their heads. The plan of getting him off the ventilator was not working, he needed to be switched to the oscillator as he was struggling so much. His blood pressure was very low, and it would only remain stable with cortisol. Robert was tested for various conditions, some horrifying, none with a great outlook, and these tests had all come back negative. A blood test showed his T3 (thyroid levels) were rock bottom which is when a pituitary issue was first suggested. I didn’t know anything about pituitary glands apart from it was something to do with puberty from year nine science. We had a lot to learn.

A doctor who is now Robert’s Endocrine consultant came into the Intensive Care area one day. I stood there baffled as she said she thought Robert had an issue with his pituitary gland, and if medications were given he would be able to breathe without the ventilator. I must say I was a bit dubious but a few days later he was back on a normal ventilator, instead of the oscillating one, and then one day when I went in I was told he had pulled out the ventilator tube whilst the doctors were trying to get blood. When he was nine days old I was finally able to hold him for the first time.

In the next few weeks the massive improvement we had been expecting didn’t come. He was still working hard to breathe and tube feeding was a nightmare. At this point his endocrine issues were stable apart from the fact he kept becoming hypoglycaemic so it was decided he should start on Human Growth Hormone and this seemed to do the trick with stopping his hypoglycaemic episodes. It was hard to inject such a tiny, skinny baby but it has quickly become part of our routine.

After 8 weeks in SCBU Robert was transferred to the respiratory ward in the Great North Children’s Hospital. This was excellent preparation for coming home and we started to feel like he was truly our baby as we were fully responsible for him.

He got home just before Christmas 2014 after 81 days in hospital but that wasn’t to be our happy ending. At this point he had a nasal pharyngeal airway (a tube we had been taught to put down his nose), as it had been discovered his upper airway was floppy. This was a nightmare to look after at home and to be honest he was still quite poorly. He was readmitted in the January and it became apparent a tracheostomy was the best option for him. We were horrified at the prospect but it has been the best thing for him being able to breathe well he was finally so happy.

He has been through another op, a Nissen’s fundoplication to stop him vomiting all the time and had a mickey button (a feeding tube into his stomach), which again whilst very worrying has helped him enormously. Not constantly being sick means he has gained weight and his development has come on in leaps and bounds.

Robert finally was able to have an MRI scan of his head, which showed his pituitary was not formed correctly. Thankfully the rest of his brain looked OK. This confirmed he did have MPHD as the normal chemical tests were not possible due to him presenting so dramatically when he was born.

We have been told to wait and see how Robert will develop, as he is overall an undiagnosed child, with MPHD as part of a wider suspected syndrome. We see him making excellent progress all the time and cannot wait to watch him grow and make more memories together as a family. We are sure as he grows his MPHD will present more issues, and we are thankful to have the CGF support group to consult for reassurance and advice. We are fortunate to receive excellent care for him at the Royal Victoria Infirmary in Newcastle.

As well as the CGF the following groups have been very helpful to me and I would recommend them if your child faces similar issues to Robert.

Truks
http://tracheostomysupport.org

This is an excellent support group on Facebook for parents with a child with a tracheostomy.

Swan (Syndromes without a name)
http://undiagnosed.org.uk

This group is for families with undiagnosed children. There are also local groups on Facebook who have meet-ups and events.

Seeking Support for an IUGR diagnosis

Seeking Support for an IUGR diagnosis

For IUGR Awareness Day (Intrauterine Growth Restriction) we are fortunate to have a guest post from Susanne Remic, GhostWriterMummy. For anyone who has read her blog, you will know that by talking about her pregnancy experiences and campaigning for better support, she helps countless others going through similar experiences. In recognition of this, she was a finalist at this year’s Tommy’s Awards for Mum’s Voice Award. This is her IUGR experience.

At 29 weeks gestation, we were told that our 4th baby wasn’t growing as well as had hoped. We’d had a growth scan due to previously having had two SGA babies, and the hospital had wanted to keep an eye on us as a result. We honestly thought that this growth scan would show a happy, healthy baby too, just like the others.

I remember that the air inside the doctors office felt so still as we waited for her to come through following the scan. I was perched on the end of a bed, feet dangling over the side. My husband was standing awkwardly, commenting on the lack of seats for dads. A normal day. Feeling normal. Smiling. And when the doctor swept into the room, we had no idea what was to come. There was no way we could have anticipated what she was going to tell us.

We’ll try and get you to 34 weeks.

We’ll deliver via c-section and baby will go to special care.

You’ll need to come back every two weeks to monitor growth.

I felt the room slide. The air was rushing from the room and the words weren’t making sense. But I was supposed to be having a VBAC! I wanted to go the whole hog- 42 weeks was the norm for me. Not 34! This baby was supposed to be small, but perfectly healthy. None of this was supposed to happen this way!

Elsie newborn

When we left the hospital, I started to google low birth weight babies and four little letters kept popping up over and over again. IUGR. Horror stories of tiny babies, too small to fight to be alive. Too weak. Born too early. I searched for blogs to read so that I could get a better understanding of what we were facing. I joined IUGR support groups on Facebook. I craved information but there was really very little that anyone could tell me.

At our next scan we were told that reduced blood flow was depriving baby of essential nutrients and oxygen, and this was probably the reason why she wasn’t growing. We were told to come back weekly so that they could monitor us closely.

Medically speaking, the care we were given was second to none. Emotionally, I am still paying the price today, 18 months on.

Elsie

Google was not a good place to be. As my hand rested on my tummy and I willed my baby to move, Google was most definitely the very worst place to be. I read story after story of babies born too early and too small. Babies facing a lifetime of disabilities. Babies who never made it home. And as each growth scan showed us a baby that still was not growing well, the fear and anxiety we felt began to escalate. Nobody could give us any answers and while we understood the reasons why, we were still frustrated and scared.

If our baby was going to need special care, how would we know where that ward was in the hospital? What would happen in there? Would I be able to stay? Would we be transferred to a different hospital closer to home? Would there be any lifelong disabilities for our baby? Why was she IUGR? Was it something I had done wrong? The medication I took to stop the sickness? Did I eat the wrong thing? Too much? Not enough? Should I rest more? Or move more? Should I prepare for the worst? Was my baby even going to make it? Was there a genetic reason for her IUGR? Would there be something one, maybe even two years down the line?

And while our questions couldn’t be answered, we had nobody to even ask them to. Nobody to hold our hand. Nobody to tell us we’d be ok. Nobody to listen.

The IUGR support group on Facebook literally saved my sanity. Writing about my pregnancy helped so much too. Not only was it an emotional release for me, but it encouraged other women to get in touch and tell me their stories too. Some babies made it, and some didn’t.

I had to focus on MY baby. Getting through to 34 weeks, and then to 37. That first cry in the operating theatre as she was plucked from my body. That first feed. That first smile. First laugh. First steps. First word.

She is here. We are here. And we are slowly finding support too.

Elsie’s 1st Birthday

There is now a UK Facebook group for parents of IUGR babies and I hope that the members find it of comfort during what can be a terribly lonely and confusing time. There is also the Child Growth Foundation, a charity who reached out to me recently to provide support and advice. The support is out there if you know where to look. I hope to be able to signpost that information and support so that other families that walk this path do so with a light to guide the way. IUGR can be a terribly lonely and frustratingly scary path; I don’t want other families to walk it alone like we had to.

Diagnosing Sotos Syndrome

Diagnosing Sotos Syndrome

This is James’ Sotos story as told by his mum, Michelle. From birth, James appeared generally floppy and lethargic and he struggled to feed. Several different conditions were suggested and tested for which came back clear. After months of being in and out of hospital, a Sotos diagnosis was finally made.

James was born on 4th December 2011 after a pretty uneventful pregnancy, apart from the fact I was absolutely huge! We put this down to him being my third child in fairly quick succession but when he was born it was obvious this wasn’t the reason why but his 60cm length and 10lb6oz weight!

During labour it was evident that something was amiss and scrapings from his scalp showed issues with his blood gases. An emergency c-section ensued and after a traumatic entrance to the world, James was rushed off to the Neo Natal unit to be given antibiotics, glucose and oxygen. It was some 12 hours later when I eventually got to meet him. It was strange seeing such a large baby lying next to the tiny premature babies. James wasn’t able to feed and had no sucking reflex so was tube fed but even then his milk had to be changed several times as he kept bringing it back up. Nobody really knew what was ‘wrong’ with James and several things were suggested, Cerebral Palsy and Mitochondrial Disease being amongst those suggestions due to his generally floppy tone (yet very tight in some areas) and lethargic state. James barely woke, couldn’t open out his hands and seldom even moved his head from side to side. At 4 days old the geneticist from St Georges, London came to see us and thought he could possibly have Weaver’s Syndrome. Xrays were taken of James’s arms and these were sent off to Sheffield for review. Some weeks later we got the news that they didn’t think he had Weaver’s.

After two weeks in the Neo Natal nursery, we were allowed to take James home as they believed he was feeding ok from a bottle and as he was stable and off oxygen there was nothing more they could do there than we could do for him at home. Once we got him home he seemed to sleep more than ever and his feeding was most definitely not ok. He would take one suck and then fall asleep so the nights consisted of a constant round of 20 mins sleep, one suck and back to sleep before waking for another suck. Of course, this meant that James was then losing weight. After two weeks at home and visits from the health visitor we were readmitted to the local hospital for them to review and observe his feeding. After a few days in there they sent us home with some Gaviscon.

During the very early weeks James seemed to have every test going — CT scan, MRI, XRays, EEG, ECG and more blood tests than most would have in their lifetime. Back home we tried to get into a routine as our older son, Spencer, was at nursery and our daughter, Emma, was at the childminder’s once a week so she could still see her friends there and keep her space for when I returned to work. It was only a matter of weeks before we were readmitted again, this time after me calling the GP surgery desperately trying to get an appointment as James again was particularly sleepy, sounded very chesty, was taking practically no milk and just looked very grey.

I recall the Nurse practitioner on the phone telling me that babies get colds all the time and they didn’t take much milk when feeling unwell. I stood my ground and said I thought she should see him so she reluctantly agreed but as soon as we got there and she saw him she sent us straight up to the hospital where James was given a full examination and ended up with an NG tube again and IV antibiotics as they thought it could be Pneumonia. After a chest XRay they could see dark patches on his lungs. We stayed in hospital for a week until James recovered but I still battled with the nurses who thought I just wasn’t feeding James and I had to persuade them by getting them to try themselves, that he just didn’t suck.

James’s consultant arranged for us to see the geneticist again for more bloods and also referred him to the Evelina Children’s Hospital in London to see the metabolic team there as he was convinced he had Mitochondrial disease. Thankfully, after a four month wait the results came back clear. He also arranged for James to have a swallow study there. The team at Evelina were great and the swallow study proved James had a disorganised swallow and had been aspirating silently which was causing all the chestiness, especially with his reflux. Omeprazole and Instant Carobel became our best friends and seemed to really help with his feeding. He was put onto Nutrini milk which helped with his weight gain and his health started to improve.

After seeing the geneticist again she advised she was going to test for Sotos Syndrome. Like most people we indulged in a spot of ‘Dr Google’ and we could instantly see the similarities. James received his official diagnosis in September 2012 when I had already been back at work a month.

With regards to childcare, we were very lucky that we had great childminders who looked after James once a week and even they had commented that James looked like a child they had looked after within their group of Childminders, who, incidentally, had Sotos Syndrome.

James also has a diagnosis of Global Developmental Delay and has yet to meet a milestone on time. He didn’t sit up by himself until July 2013 (we were in Brighton hospital at the time and he thought the tilted cots were great fun, slamming himself back down each time he managed to get up). He was cruising around the furniture at around 30 months and started to take a few tentative steps indoors in October 2014.

James received Portage sessions from about 7 months and these came to a close when he was offered a place at his nursery in September 2014. It is a Special School for children with Severe learning Disabilities and Complex needs. He loves going there and is making real progress. Although James cannot talk we understand what he wants from his brilliant facial expressions, body language and the tone of his voice. We have had hundreds of appointments in the past 3 years — more therapists than you can shake a stick at but thankfully these are now fewer due to the nature of the school and being able to incorporate the appointments there.

We are lucky enough to have my parents come and look after James, Spencer and Emma during the times my husband and I are at work and he is not at nursery and he has developed a fantastic bond with them. James is also very lucky that Emma (5) is like a second mum to him and absolutely adores him.

James is a truly adorable little lad, always a smile on his face and although the erratic sleeping patterns, feeding difficulties and mobility issues make life more awkward than for most, we love him to bits and look forward to seeing more progress as the months and years go on.