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.

Manchester BabyGRO study update

Manchester BabyGRO study update

Foreword: by Chloe Lane

 

We are pleased to see the final report from the Manchester BabyGRO study which has some important implications for early identification of children born small who may be at risk of developing health problems in later life and who would therefore benefit from closer follow-up. We hope that the findings from this research will have a positive impact for many families.

 

The Manchester BabyGRO Study: by Reena Perchard

 

IUGR and preventable disease risks

Intrauterine growth restriction (IUGR) is a condition where growth slows down during pregnancy. This happens in about 3 in every 100 pregnancies and can result in babies being born very small, who are then seen by Paediatricians to check their growth and general health. However, other babies are born small but not severe enough to be called IUGR. They would not see a doctor, but they may be at risk of later health problems.  The Manchester BabyGRO Study has focussed on both groups of babies.

 

There are specific risk factors that we focus on to try and reduce risks of later life illness such as diabetes, heart disease and stroke. As an example, IUGR is related to higher blood pressure; for each 1kg lower birthweight, blood pressure is higher by 1.7mmHg in adolescence. Putting this into context, in adulthood, a lowering of blood pressure by 2mmHg is associated with an 8% reduction in stroke risk.

 

Identifying individuals at greater risk and stepping in early may be key to starting these children on the right path towards a healthy adult life.

 

The Manchester BabyGRO Study

 

The Manchester BabyGRO Study examined which factors in pregnancy impact on risks of later-life illness that begin to present in childhood.

 

The important questions that we addressed were:

 

  1. What factors in the womb are linked to greater disease risks in later life, that begin to show in childhood?
  2. What are the patterns of growth in the first year of life, that are worst in terms of risk development in childhood? Can we link these to specific factors in the womb?
  3. What are the processes and mechanisms that lead to development of these risks in childhood?

 

The study had two arms:

 

  1. One examining the rate of growth in babies whose mothers were at risk of delivering a small baby and
  2. Another investigating the levels of risk of later life illness, in children aged 3-6 years.

 

Findings from the study

 

Thanks to all the willing participants and their families, we met all our recruitment targets for the study. We have now completed analyses of the data and we have made links that may help early identification of children who might benefit from closer follow-up.

 

1. The BabyGRO Babies

 

We recruited 80 mother and baby pairs for this arm of the study. All women were identified as being at risk of delivering a small baby, based on their blood tests during pregnancy. Not only did we look at patterns of weight gain, but we specifically examined measures that indicated adiposity (fat) gain. These included skinfold thicknesses (a measure of fat underneath the skin) and body mass index (BMI).

 

By studying patterns of growth in these babies in relation to their growth patterns before birth, we have made interesting links between the two. Those babies who had the severest growth restriction whilst in the womb, put on the greatest skinfold thicknesses between birth and six months. Their gain in BMI was the greatest, showing the potential helpfulness of introducing these measurements in the first few months of life.

 

2. The BabyGRO Children

 

81 children attended the Clinical Research Facility for measurements, which helped us to assess later-life disease risk. These included height, weight, abdominal, arm and thigh circumferences and skinfold thicknesses.  Children particularly enjoyed going in the BODPOD (Cosmed, USA), a specialised piece of equipment that let us accurately measure fat percentage in the body. We measured blood pressure and the rate at which blood flows through vessels.

 

We have studied these data carefully, and have made links between particular childhood measurements, and growth rates of these children before they were born. These growth rates are, in turn, linked to specific measurements of how much blood is getting to the placenta, the organ which supplies the unborn baby with oxygen and nutrients.

 

A main finding was that of a potential triad of associations between growth rates before birth, rates after birth and blood pressure in childhood. Therefore, our evidence supports that those babies who go on to develop blood pressures towards the higher end of the normal range in childhood could be identified in very early life.

 

Half of the children attending for measurements also agreed to a fasted blood test. Therefore, we have measured levels of fat and sugar in the blood, as well as gene activity levels (“transcriptomics”) and the end points of processes that these genes govern (“metabolomics”). In combination, these have led us to identify a key pathway involved in the development of higher blood pressure in children; the arginine-nitric oxide pathway.

 

This could be the key to understanding how we can identify, follow up, and prevent the onset of diseases such as diabetes, heart disease and stroke in later life.

Managing Growth Disorders Webinar

Managing growth disorders: integrating technology into a personalised approach

You may have missed the webinar on Tuesday 21st May but you still have the opportunity to watch it now.

The webinar discussed non-adherence to GH therapy, why this is a problem and what interventions can promote adherence for children and their families. Specialists will be presenting and debating on barriers to effective management of growth disorders and which tools are available to implement to improve short- and long-term outcomes.

This webinar is suitable for, but not limed to, clinical paediatric endocrinologists, clinical adult endocrinologists, paediatric endocrine nurses, clinical psychologists, and all other healthcare professionals interested in the management of growth disorders.

To view the recording, click the image above.

Investigating Behaviour in Silver-Russell Syndrome

Investigating Behaviour in Silver-Russell Syndrome

Investigating Behaviour in Silver-Russell Syndrome: Research Summary

by Chloe Lane, Louisa Robinson, Megan Freeth

Megan Freeth, Chloe Lane & Louisa Robinson

 For the past year, we have been conducting a study to investigate behavioural characteristics observed in SRS. The study involved a play session/semi-structured interview which was used to observe how children play with different toys, their ability to tell stories and how they communicated with the researcher. For older children and adults, this was an informal conversation to find out about things such as friendships, hobbies and school/work. The study also involved completing a few different activities to assess skills such as language, memory and problem solving. We finished visiting families in October 2018 and in total, we saw 15 individuals with an mUPD7 diagnosis and 18 individuals with an 11p15 diagnosis. This was slightly more than our original target so we are extremely grateful to all of the families who took part in the study and made it possible. The findings from the study have been written for publication in a scientific journal and as soon as the article is published, we will share this with the CGF. Below is a summary of the main findings from the study.

Autistic behaviours are broadly defined as having difficulty with social interaction and social communication, as well as displaying restricted interests and repetitive behaviours. Previous research has indicated that autistic traits may be more common in SRS than in the general population. In particular, it has been suggested that individuals with an mUPD7 diagnosis are more likely to display autistic traits, with some also having a diagnosis of an autism spectrum disorder (ASD). Although this research has indicated that autistic traits are common in SRS, the nature of these behaviours has not been assessed in a systematic way, using standardised measures. Therefore, the aim of our research was to use both a gold-standard behavioural assessment and a questionnaire, completed by a parent/caregiver, to identify autistic traits associated with SRS 11p15 and SRS mUPD7. A further aim of the study was to assess cognitive abilities associated with SRS 11p15 and SRS mUPD7. Autistic traits were assessed using the Social Responsiveness Scale, second edition (SRS-2) and the Autism Diagnostic Observation Schedule, second edition (ADOS-2). Cognitive abilities were assessed using the British Ability Scales, third edition (BAS3). Participants in the 11p15 group ranged in age from 4 – 15 years and in the mUPD7 group, participants ranged in age from 8 – 28 years.

In relation to autistic traits, the findings from the questionnaire (SRS-2) indicated that 53% of the mUPD7 participants and 45% of the 11p15 participants were reported by their family member as having some difficulty with social skills and restricted interests/repetitive behaviours in daily contexts. The level of difficulty with these behaviours varied between the groups, with 38% of the mUPD7 participants reported as having significant difficulty with these behaviours, compared with 11% of the 11p15 participants. Furthermore, the level of difficulty with social skills did not differ between the groups but the mUPD7 group were reported as displaying more difficulty with restricted interests/repetitive behaviours. Overall, this suggests that autistic traits are more common in both SRS mUPD7 and SRS 11p15 than in the general population but that these traits seems to be more pronounced in SRS mUPD7. In particular, these individuals may struggle with restricted interests and repetitive behaviours.

Autistic traits were also assessed using an in-person assessment (ADOS-2). The ADOS-2 provides an opportunity to observe whether an individual displays difficulty with social skills and restricted interests/repetitive behaviours in a semi-structured context. The findings from this assessment supported the findings from the SRS-2, with 33% of the mUPD7 group and 11% of the 11p15 group displaying autistic behaviours during the assessment. Once again, this indicates that individuals with an mUPD7 diagnosis are more likely to have difficulty with autistic behaviours. It is important to note that in both groups, a number of individuals did not display these behaviours. Therefore, clinicians should be aware of this increased likelihood of ASD in SRS but consider on an individual basis, whether a full assessment for ASD would be appropriate.

Cognitive abilities were also assessed in order to identify the overall ability of individuals with SRS and whether individuals show consistent strengths and difficulties with specific aspects of learning. Each participant completed several different activities which provided a general conceptual ability (GCA) score. This is equivalent to an IQ score and in the general population, a score of 100 is average. In the 11p15 group, the average GCA score was 99, with scores ranging from 62 (below average) to 140 (above average). This distribution of scores is typical of the general population, indicating that learning is not affected in individuals with SRS 11p15. In the mUPD7 group, the average GCA score was 80, with scores ranging from 57 (below average) to 91 (average). The average score for this group is lower than the general population and the majority of participants had scores in the borderline range. This means that although they do not have intellectual disability, their scores tended to be slightly below average. This indicates that individuals with mUPD7 may have more difficulty with learning than their peers and that additional support in school may be beneficial. Once again, this should be considered on an individual basis. In both groups, there was no evidence of consistent strengths and difficulties between individuals, in relation to the cognitive abilities that were assessed. 

Conclusions

In summary, the findings from this study indicate that some individuals with SRS have difficulty with autistic traits and these tend to be more common in individuals with SRS mUPD7. It is important for families and clinicians to be aware of this increased likelihood of ASD as, in some cases, a full assessment for ASD may be appropriate. In addition, individuals with SRS mUPD7 may be more likely to have difficulty with learning, compared to their peers so it is important to consider whether additional support with learning and development may be useful. It is important to note that there was variability within each group, indicating that some individuals may have more difficulty with autistic traits or learning than others. Therefore, a referral for additional support or services may be beneficial for some individuals with SRS but not required for others.

Communication Abilities of Children with Sotos Syndrome

Communication Abilities of Children with 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

Research Funding Update – 2013

Research Funding

Introduction

The Child Growth Foundation (“CGF” or “Foundation”) aims to “promote and fund research into the causes and cure of growth and endocrine disorders, and publish the results”. The Foundation has been actively pursuing this aim for many years by funding numerous research projects. However, at recent Annual General Meetings, some criticism has been levelled at the trustees for a lack of transparency of the procedures by which grants are awarded and by which the subsequent results are evaluated and disseminated. Consequently, at the last meeting of the management committee, I agreed to review the current procedures to ensure that we are adopting best practice.

Source of funding

In recent years, most of the funding for research has been taken from unrestricted funds which are generated from various sources such as membership fees, donations and income generated from CGF Products. However, the CGF has also received donations from pharmaceutical companies to fund specific research projects. These donations are classed as restricted funds and cannot be used for any other purpose. The research grants are awarded, administered and evaluated by the Foundation on behalf of the pharmaceutical company. Research grants represent a significant proportion of annual expenditure and have exceeded fifty per cent of total expenditure in some years.

What do we fund?

The majority of recent grants have been awarded to universities or hospitals in the UK and projects have typically fallen into one of the following categories

  • Fundamental research such as identifying a specific gene that is responsible for a particular growth disorder (e.g. Russell-Silver and Sotos Syndromes)
  • Studying the long term consequences of an intervention (e.g. Growth Hormone Therapy)
  • Investigating the behavioural and psychological effects associated with growth disorders (e.g. premature sexual maturation and Sotos Syndrome)
  • Providing funds to allow families to take part in research studies (e.g. travel expenses)

In some cases, grants awarded by the CGF are used to supplement funding from another source or to support one aspect of a much larger research programme. Projects will only be considered if they accord with the aims of the CGF and will be favoured if they are of potential benefit to members with one of the growth conditions supported by the charity.

 

The decision process

Requests for funding are received by the CGF on an ad hoc basis and are usually discussed at meetings of the management committee. However, as these meeting are held at intervals of approximately six months, it is sometimes necessary for requests to be circulated to the trustees by email. The funding decision is taken by a vote of the trustees on the basis of a simple majority and in most cases the decision is unanimous.

CGF staff then inform the applicant of the trustees’ decision and, where successful, place an agreement with the institution. The principal investigator is required to confirm that ethical approval has been obtained (where necessary) and that copies of all publications arising from the work will be made available to the CGF.

The CGF will take steps to protect intellectual property when it is considered that the results of the project could be exploited financially.

Presenting the results

Successful academic research will typically be presented at conferences and published in peer reviewed journals. On-line access to recent academic publications is often restricted with relatively expensive subscriptions required to view the full papers. However, specialist knowledge is usually required to understand these papers. It is therefore essential that the results of research projects are presented to the membership in a format that is accessible to the lay person. This is typically achieved by inviting the principal investigators to present their work at the annual convention or to write an article for the newsletter. They are also required to submit a report with all invoices so that the CGF staff can confirm that satisfactory progress has been made.

It is important to distinguish between fundamental research and other projects such as epidemiological investigations. Research is by definition, an investigation of the unknown and positive outcomes can therefore not be guaranteed. However, it should always be possible to draw conclusions from the collection and analysis of a data set.

The future

The management committee considers that the current protocols associated with research funding are robust and that the CGF has obtained good value for money in most cases. However, there is always scope for improvement and the following measures will be adopted for future projects

  • The management committee will appoint one trustee to have responsibility for overseeing research projects.
  • When the value of a research grant exceeds £5k or when the project is of high profile, a trustee and/or a member of the CGF staff will hold regular review meetings with the principal investigator or their nominated deputy as specified in the research agreement.
  • A report will be included in each newsletter giving an update on all current research projects. This will also be made available on the CGF web site.
  • The management committee will be more proactive in the funding of research projects and will seek to identify topics that are of particular interest to the CGF. Suggestions from members would be most welcome. Requests for proposals will be announced and it is hoped that professional organisations such as BSPED will be prepared to assist the CGF in publicising and evaluating these proposals.

 

Current and recent projects

The following projects have received funding from the CGF in recent years.

 

Title: Investigation into the role of growth hormone on higher functioning in children

CGF Reference: GR07/01

Principal Investigator(s): Professor Mehul Dattani

Institution: University College, London

Funding Level: £322,000 (funding from Novo)

Duration: 2007 – 2012

Comments: An investigation of the effect of GH on brain development in children. The results showed that children with hypopituitarism displayed behavioural and cognitive difficulties and poor sleep patterns. These problems were linked to brain abnormalities as seen on MRI scans. The research has been published widely.

 

Title: Preterm Growth References

CGF Reference: GR07/02

Principal Investigator(s): Professor Neena Modi

Institution: Imperial College, London

Funding Level: £73,000

Duration: 2007 – 2012

Comments: The production of growth charts for preterm babies born at up to 34 weeks gestation. The preliminary data were presented by Professor Tim Cole at the Annual Meeting of the Royal College of Paediatrics and Child Health in 2011

 

Title: Behavioural and psychological problems in children with exaggerated adrenarche

CGF Reference: GR10/01

Principal Investigator(s): Dr Jeremy Kirk and Dr Gillian Harris

Institution: Birmingham Children’s Hospital

Funding Level: £60,000

Duration: 2010 – 2013 (not yet finished)

Comments: The project is progressing well and early results indicate that some patients with early puberty may display atypical eating behaviours and may have an increased risk of psychological disorders such as anxiety, depression and aggressive behaviour.

 

Title: Purchase of 3D body scanner for hospital

CGF Reference: GR10/02

Principal Investigator(s): Professor Jonathan Wells

Institution: University College, London

Funding Level: £17,000

Duration: March 2011

Comments: Donation of body scanner

 

Title: Ethnic differences in lung function in children

CGF Reference: GR10/03

Principal Investigator(s): Professor Janet Stocks & Dr S Lum

Institution: University College, London

Funding Level: £4,200

Duration: October 2010 – September 2011

Comments: An investigation by way of body composition studies to facilitate early diagnosis and treatment of lung disease in children

 

Title: Early identification of childhood obesity

CGF Reference: GR10/04

Principal Investigator(s): Dr William Johnson

Institution: Bradford Hospitals NHS Trust

Funding Level: £6,163

Duration: Late 2010 – early 2011

Comments: Stage 1 of study into possibility of creating a prediction app (completed)

 

Title: Early identification of childhood obesity

CGF Reference: GR11/01

Principal Investigator(s): Professor Noel Cameron & Professor John Wright

Institution: Bradford Hospitals NHS Trust

Funding Level: £100,000 (approx.)

Duration: January 2011 – December 2012

Comments: Stages 2 and 3 – development of a prediction app. See report in this newsletter.

 

Title: Patient choice and “value added” items: influences in adherence with GH therapy

CGF Reference: GR11/02

Principal Investigator(s): Dr Jeremy Kirk

Institution: Birmingham Children’s Hospital

Funding Level: £20,000

Duration: February 2011 – December 2011

Comments: An investigation of the difference in growth outcomes in children offered a choice of GH therapy and those who were treated in hospital. The results show that the type of GH and the method of treatment had no significant effect on height SD, compared with children receiving no treatment after one year.

 

Title: Which early risk factors should be used to identify a baby’s risk of obesity?

CGF Reference: GR11/03

Principal Investigator(s): Dr Thomas Willis & Professor Mary Rudolf

Institution:  Leeds General Infirmary & University of Leeds

Funding Level: £10,703

Duration: 3 months in 2011

Comments: An investigation of the factors that may predispose babies to obesity in later life. Factors such as parental obesity, weight centile, infant weight gain and smoking in pregnancy were all considered to be useful factors in the development of an obesity risk tool for use by health professionals.

 

Title: Adolescent obesity – from prevention to surgery

CGF Reference: GR12/01

Principal Investigator(s): Dr Buchanan and Mr Desai

Institution: Department of Paediatric Surgery, King’s College Hospital, London

Funding Level: £2,000

Duration: April 2012

Comments: Support for a workshop and symposium.

 

Title: Summer internships

CGF Reference: GR12/02

Principal Investigator(s): Prof Noel Cameron

Institution: Centre for Global Health and Human Development, Loughborough University

Funding Level: £4,680

Duration: July – August 2012

Comments: Support for an application to British Heart Foundation for financial support in respect of a project to determine the effectiveness of interventions designed to prevent overweight and obesity in pre-adolescent girls.

 

Title: A randomised study of two anti-thyroid drug treatment regimes in young people with thyrotoxicosis

CGF Reference: GR12/03

Principal Investigator(s): Dr Tim Cheetham

Institution: Royal Victoria Infirmary, Newcastle upon Tyne

Funding Level: £20,000

Duration: November 2012 – November 2017 (but CGF only funded first 2 years)

Comments: Study started in 2004 and funding is needed to allow study to continue and hopefully complete so providing useful and novel data in a substantial number of children with a rare disorder.

 

Title: Long term effects of GH therapy

CGF Reference: GR12/04

Principal Investigator(s): Professor Gary Butler

Institution: Institute of Child Health, London

Funding Level: £22,300

Duration: Late 2012 – 2013 (not finished)

Comments: An investigation into the long term effects of GH therapy as part of the European SAGHE study.

 

 

 

Title: Metabolic outcomes in RSS

CGF Reference: GR12/05

Principal Investigator(s): Dr Renuka Dias

Institution: University of Birmingham

Funding Level: £5,000

Duration: Nov 2012 – Jan 2014 (not finished)

Comments: Grant was made to help with patient expenses for travel to Birmingham.

For more information about any of these projects please contact Ros Chaplin or Simon Lane.

 

 

 

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