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: Research Summary

by Chloe Lane, Louisa Robinson, Megan Freeth

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: Research Summary

by Chloe Lane, Megan Freeth, 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.

 

 

 

Research Update – June 2017

Research update – June 2017

The CGF is currently funding four research projects, two of which will finish this year and the principal investigators have all provided progress reports which appear elsewhere in this newsletter. With increasingly limited financial resources, we are considering all proposals very carefully and only fund projects that are of direct benefit to members. However, we do intend to maintain a robust research portfolio and anticipate that funding for this aspect of the charity’s work will increase again over the next few years.

The CGF funding for the project with Dr Kate Tatton-Brown at the Institute of Cancer Research (ICR) is due to finish shortly and this coincides with the publication of a very significant publication by Kate and her colleagues in the Journal of Human Genetics. The CGF started funding the group approximately twelve years ago to help launch the Child Overgrowth (COG) study and there has been a huge research effort over the intervening period, resulting in the identification of several new overgrowth syndromes.

The current funding from the CGF was specifically intended to help ensure that the results of the genetic studies can be transferred rapidly to clinical practice. Kate is ideally placed to do this as she divides her time between genetic research at the ICR and her role as Consultant Geneticist, specialising in growth disorders at St George’s Hospital in London. We have already invited Tatton-Brown-Rahman (TBR) and Weaver families to join the CGF and welcomed several TBR families at the convention last year. We hope that a group of families affected with Weaver Syndrome will join us at the convention this year. It is also the intention of the CGF to support other overgrowth syndromes but some are so rare that it may not be possible to run separate groups for all.

It is very difficult for most parents to understand the details of the genetics and simply knowing that your child has an anomaly with the NSD1 gene is of little practical use. Kate is therefore producing booklets for each syndrome, some of which are already available, that can be given to GPs, schools, health visitors etc to provide basic details of the condition.

There are still many people with unidentified overgrowth syndromes (my daughter Romana is one) and we hope to continue working with Kate over the coming years as more syndromes are identified.

Chloe Lane who is working on the cognitive profile of Sotos Syndrome at the Sheffield University Autism Research Laboratory (ShARL) is also due to finish her project later this year. Previous studies into the behaviour (Chris Oliver) and autistic traits (Joanna Saddington) associated with Sotos syndrome having been carried out but there has never been a large scale study of cognition. Chloe has established that most individuals affected by Sotos syndrome have very similar strengths and weaknesses and that a unique cognitive profile can be identified. This will enable her to produce booklets that can be given to teachers and employers to enable them to understand the difficulties or strengths that an individual is likely to have at school or in the work place.

Chloe has also conducted a study of the autistic traits of Sotos Syndrome and established that many individuals have behaviour that would typically be associated with moderate or severe autism. This work was based on a parental questionnaire and is therefore not a formal diagnosis. I would urge parents to consider seeking a clinical diagnosis if they feel that this would be of benefit to their child. Some clinicians seem to feel that a diagnosis of Sotos Syndrome is sufficient but a dual diagnosis of ASD (autistic spectrum disorder) will often enable teachers to provide more targeted help for the child.

Individuals with Sotos syndrome tend to struggle with certain aspects of maths and during the project, Chloe has undertaken a more specific study on a couple of mathematical aspects of cognition. This was carried out using a smaller group and gave some interesting results which she hopes to include in a publication later this year.

As is so often the case with research projects, Chloe’s work has revealed many areas that could be explored in more detail and she hopes to continue her work on overgrowth disorders after the CGF funding ceases. In particular, she may extend the work to include Weaver, TBRS and other recently identified syndromes.

During the project, Chloe also took the opportunity to investigate autistic traits associated with Russell Silver Syndrome using the same parental questionnaire that was used for Sotos Syndrome. The results were very interesting and showed that some (but by no means all) individuals with RSS have behaviours that would typically be associated with moderate or severe ASD. This clearly warrants further investigation and I am very pleased to say that the trustees recently agreed to award a small grant to ShARL to carry out some further work in this area.

The STAARS project which is led by Professor Karen Temple at Southampton was due to have finished this year but staffing issues have resulted in a slight delay. Dr Kemi Lokulo-Sodipe is planning to return to work within the next few weeks and will then analyse the data that have been collected during the clinical phase of the project. It is possible that the team may wish to include a few more participants so please do consider taking part if you have not already done so.  As with all the conditions that we support, one of the first questions that parents with a newly diagnosed child will ask is “what is the prognosis for my child in the long term?” and this project will hopefully help to answer this fundamental question.

The next phase of the SOLID project led by Dr Renuka Dias at Birmingham University has now started and the team are actively recruiting participants. The project will focus on a behavioural assessment (led by Dr Shauna Kearney) but will also involve some MRI imaging to look for anomalies in the brain. The study will be limited to those with confirmed 11p15 hypermethylation, in the first instance, but will hopefully include UPD7 in due course. With limited financial resources, we are very keen to ensure that all research is of direct benefit to members and this is an example of a project that was instigated after discussions between parents and clinicians at CGF conventions.

None of these research projects would have been possible without participants and we are very grateful to all those who volunteered to take part. Please do consider participating in future projects as most research involves statistical analysis and it is much easier to draw robust conclusions with a larger sample size. Please do continue to let us know if you feel that there is a gap in our knowledge of any of the conditions that could be addressed by a research project.

 

 

 

Research Update – December 2017

Research Update – December 2017

With several programmes finishing during 2017 our research portfolio is much reduced, and we are now only funding three active projects. This is largely due to our current financial constraints and we hope to be in a position to award further grants in due course (see below).

The project entitled “Neurodevelopmental Outcomes in RSS”, which forms part of the larger SOLID programme, is progressing well and many of you will have heard Dr Renuka Dias talking about the research at the last convention. You will also see an update from Renuka elsewhere in this newsletter.
Dr Megan Freeth and Louisa Robinson at Sheffield University have just started their project entitled “Characteristics of Autistic Spectrum Disorder in RSS” and plan to start testing early in the new year. I appreciate that our RSS members, in particular, have been asked to take part in many research studies in recent years but participants in this study will receive individual feedback which will hopefully be an incentive to take part in this exciting new research.

In 2012, the CGF awarded a grant of £20k to support a project investigating different drug treatments for children affected by thyrotoxicosis. This drug trial, led by Dr Tim Cheetham at the Royal Victoria Infirmary in Newcastle, is still ongoing and we expect to hear the results in another year or two.

At the recent trustees’ meeting we agreed to consider a contribution of £15k to support a project at Manchester University which is investigating the long term medical issues experienced by SGA babies. The grant will enable Dr Reena Perchard to complete a PhD degree under the direction of Professor Peter Clayton and is conditional on the additional funding being obtained from other sources.
The trustees are keen to change the way in which grants are awarded and move to a system in which the CGF asks research groups to submit proposals to address specific issues that have been identified by our members. The exact details of the new scheme have yet to be confirmed but will hopefully have been agreed in time for the next newsletter. However, it is likely that we will announce research awards on an annual or biennial basis and that a budget will be allocated depending on the financial situation of the charity at that time. If the incredible fund-raising effort from CGF members over the last few years can be sustained, we will be able to maintain a valuable research portfolio.

As well as funding research programmes ourselves, we are often asked to make members aware of other relevant projects that have attracted funding from elsewhere. Two current projects in which you may wish to consider participating are an investigation of the cognitive profile, behaviour and autistic traits in Tatton-Brown Rahman and Weaver Syndromes being carried out by Dr Chloe Lane and Dr Megan Freeth at Sheffield University and an investigation of the behavioural aspects and mental health of those with Sotos Syndrome being led by Dr Alice Welham at Birmingham University.