by Catriona Taylor | Jun 17, 2024 | News, Opportunities: external studies, surveys and research projects, Research
Paid External Research Participation Opportunity
MindSight Research are looking to invite people to participate in a research study which is looking at an injection device to administer medication to people diagnosed with one of the following conditions:
• Growth Hormone Deficiency (GHD)
• Turner Syndrome (TS)
• Small for Gestational Age (SGA)
• Prader-Willi Syndrome (PWS)
• Idiopathic Short Stature (ISS)
• Chronic Renal Insufficiency (CRI)
This is study will hopefully lead to better access to the most suitable medical devices for administering Growth Hormone medication.
What would participation involve?
We would be looking for people to participant in a 90 minute in person one to one session, where they will review a device and its instructions and asked specific questions around it. They will be compensated for their time.
Who are we looking to speak to?
People who are aged 18+ and have administered injectable medication for someone with one of the following conditions:
• Growth Hormone Deficiency (GHD)
• Turner’s Syndrome (TS)
• Small for Gestational Age (SGA)
• Prader-Willi Syndrome (PWS)
• Idiopathic Short Stature (ISS)
• Chronic Renal Insufficiency (CRI)
Adolescents aged 12-17 who have been diagnosed with one of the above conditions and have administered injectable medication to themselves (they would attend with a parent/guardian as a chaperone).
Compensation for participation
Participants in this study would receive a monetary amount for their time and contribution. This would be £150 for 90 minutes. This would be paid via bank transfer.
For adolescents, this is the total amount for their participation and chaperone.
This is inclusive of basic travel costs, however we can review this on an individual basis for those travelling further afield.
The organisers will also kindly donate £20 to the CGF where participants note our charity name for where you heard about this research opportunity.
Dates
The dates we are currently looking at are: 22nd July 2024 – 3rd August.
Locations
We have study days booked in the following locations, however if you are interested in participation and live outside of these, please do get in touch as we will be considering additional locations dependent on interest.
London
Birmingham
Bristol
Manchester
Glasgow
How to apply?
If you would like to register your interest to participate please follow the below link: https://eu.panelfox.io/s/9b2ffca0-fc65-4b4b-861d-d3d5dc98e85f
You can also email us: [email protected]
Or if you would prefer to discuss on the phone you can can call us on 0117 462 4700
Mindsight Research have shared the below flyer.
by Neil Hunter | Apr 6, 2022 | Research, Silver-Russell Syndrome
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.
by Catriona Taylor | Mar 13, 2022 | News, Outcomes: external studies, surveys and research projects, Research
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:
- What factors in the womb are linked to greater disease risks in later life, that begin to show in childhood?
- 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?
- What are the processes and mechanisms that lead to development of these risks in childhood?
The study had two arms:
- One examining the rate of growth in babies whose mothers were at risk of delivering a small baby and
- 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.
by Neil Hunter | Apr 10, 2019 | News, Research
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.
by Neil Hunter | Apr 10, 2019 | Outcomes: external studies, surveys and research projects, Research
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.
by Neil Hunter | Apr 10, 2019 | Outcomes: external studies, surveys and research projects, Research, 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
