Investigating Behaviour in Silver-Russell Syndrome

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

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

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

Annual Convention 2018

by Neil Hunter | Nov 1, 2018 | Convention

Annual Convention & AGM – 2018

The 2018 convention was attended by many parents, children and professionals, and throughout the day on Saturday, we had a vast array of eminent speakers, including Prof Karen Temple, Prof Deborah Mackay, Dr Emma Wakeling, Dr Assunta Albanese, Dr Lee Hudson, Dr Trevor Cole, Dr Kate Tatton Brown, Dr Megan Freeth, Dr Chloe Lane, Dr Alice Welham.

We are very fortunate to have some of the best healthcare professionals, endocrinologists and geneticists in the world and they give up their valuable time to come to our annual convention.

“I always come away with more knowledge than I came with”

Many of the professionals spend the whole day with us and talk to parents on an individual basis, offering their expertise in a very informal and relaxed setting. They all thoroughly enjoy their day with us and quite often learn as much from our members as our members learn from them.

We had a record amount of children attending this year and the youth group continues to grow in popularity, with many of the young people making new friends as well as enjoying meeting up with old friends.

At the end of a very hectic day, it was time to relax, have a drink and enjoy the company of others who understand what you are or have been through. There is nothing like the support of another parent, when you tell them about your struggles and they say, “that’s exactly what happened to us!” We are already planning our next convention, and as always, it will be great to see all our CGF friends again, as well as greeting new ones.

“Very well organised and very beneficial to our family”

Although the convention is for members of the CGF, we welcome new members from anywhere in the world and at last year’s convention, we welcomed members overseas again. What remains clear is that patient support groups and the help and advice patients receive from these groups, as well as other parents, cannot be underestimated. The same is true of healthcare professionals, who are increasingly relying on patient support groups to help their patients, which can only be considered as great progress for us all.

“an all round great weekend”

Survey 2018

by Neil Hunter | Aug 31, 2018 | News

Child Growth Foundation Survey

We have developed this survey to capture your experiences and satisfaction relating to the support and treatment you are receiving from the staturoty bodies and from the Child Growth Foundation.

By gaining your thoughts and feelings on a number of topics we will be able to deliver the right support to you in the future. It will help us prioritise our spending and enable us to better meet your expectations of us.

The answers you provide will be treated with the strictest confidentiality. The survey should take around ten minutes to complete.

To start the survey click the image to the right.

Travelling this Summer?

by Neil Hunter | Jul 11, 2018 | News

Travelling Tips and Information

With school holidays just around the corner you may be about to travel to places near and far in search of rest, relaxation and a really good time! It is holiday season and so we thought it important to share some advice and travelling tips to help smooth the break. Here are some things to consider:

Health insurance

It’s important to get adequate insurance cover before you travel. You’ll need to find insurance that covers pre-existing conditions. The Pituitary Foundation has a list of insurance companies that deliver policies aimed at people with existing conditions.

Travelling with Medication

If you are going abroad on holiday it is best to ask your GP or endocrinologist for a letter about the medication and your doses prescribed, that you or your child take. This letter will be helpful should you become unwell and have to see a doctor. It is also useful for you to have this letter whilst going through airport security, in the event that they question the medication. If you have a repeat copy prescription this can also be shown.

If you want to take any sort of medicine with you – either prescribed or bought from a pharmacist – find out if there are any restrictions on taking it in and out of the UK or the country you are visiting. This is particularly important for patients on growth hormone (GH). Ask the relevant Embassy or High Commission or telephone the Home Office for advice.

All of your medication should be labelled with your name and kept with you at all times during your journey.

Finally, always carry medicines in a correctly labelled container, as issued by the pharmacist.

For further useful information, please visit the Gov.UK website.

Flying with Medications

The following is useful advice from Heathrow Airport

You may need to take medications with you when you fly, so talk to your doctor to find out exactly what you need to take. Here are some considerations when taking medications

Make sure you take enough for the flight and your time in the destination.
Make sure you pack them with you in your hand luggage. Don’t leave liquid medication in the hold because the temperatures could affect it.
If you need to take medication in containers over 100 ml, this is possible. However, you will need permission from the airline and airport, and you will need a certificate from your doctor.
If you need to take a hypodermic syringe, this should be possible. However, be prepared for special checks at security.
Also remember to check any restrictions in the country you are visiting because they may not allow you to take certain medications into the country.
Always take a copy of your prescription as well as a letter from your doctor containing details of your medications and condition.

Medications that need to be kept cool

If you have medications that need to be refrigerated, the following are suggestions on how to keep medications cool during travel:

Purchase or borrow a small cool bag with two freezer blocks.
Before you travel, call your accommodation (hotel, motel, bed and breakfast etc) and ask if they have refrigerators in the rooms or, if not, if one can be hired for your room. If they do not have refrigerators, ask if they have a freezer where they can place your freezer blocks on a rota in order that you can keep your cool bag cool.
During travel, place your medication into cool bag with both frozen blocks – the blocks should keep cool for around 12 hours.
If you need to use the hotel’s freezer, on arrival, give them one block labelled with your name. Twelve hours later swap the blocks to ensure you continually have a frozen block to use both day and night in the cool bag.
For dire emergency, for example, there is no freezer or refrigerator available, wrap the medication in a cold wet flannel and keep in shade. This option is not recommended for the long term.
For long haul flights, you can request dry ice packs from cabin crew (they can refuse this request). Dry ice packs will quickly refreeze your ice blocks. It is important to be very careful while handling these packs.
Cabin crews may also refrigerate your medications for you on the aircraft (again, they can refuse this request). Be sure it is properly labelled and be certain to retrieve your medications before leaving the plane!