22q 11 European Congress 10-11 October 2015

A 3.30 a.m. alarm call is not the normal way to start a Saturday morning but a National Rail strike in Belgium meant that our original plans to travel to Brussels by Eurostar were cancelled and we were now following Plan B.  Plan B involved leaving home at 4.30 to get to the Eurotunnel terminal at Folkestone for our 6.20 shuttle to France followed by a 130 mile drive to Brussels, hopefully arriving in time for the start of the 22q 11 European Congress which had been organised by the Belgian 22q support group Relais 22 . It had been two years since our last 22q conference in Dublin and my wife Colleen and I were keen to catch up with the latest developments. My fellow trustee from The 22Crew, Lindsey Stedman was also attending and was eagerly awaiting our appearance.

In due course we hope to have all the slides presented at the conference on our website (http://www.22crew.org/) together with the notes which Lindsey diligently kept over the two days.  We had hoped to provide Twitter updates during the conference but lack of WiFi in the conference room made this difficult. We know that many of our members and followers are keen to learn more about the meeting and I thought it would be useful to share with you my initial thoughts on the conference and provide little a bit of information on the presentations which will give you a flavour of the topics discussed.

I am please to say that we made it to Brussels just in time to hear the opening remarks of Paul Havelange of Relais 22 and Dr. Bronwyn Glaser from the University of Geneva.

After a brief welcoming statement we were straight into the first presentation of the conference from Professor Donna McDonald-McGinn of the Children's Hospital of Philadelphia (CHOP). Professor McDonald-McGinn gave an overview of how knowledge of the condition has developed starting with the finding of the late Dr. Angelo DiGeorge after whom DiGeorge Syndrome was named. It was mentioned that DiGeorge syndrome is not only caused by 22q11.2 deletion but also by other chromosome abnormalities such as deletions on 10p13, 17p13, and 18q21. DiGeroge Syndrome also occurs due to non chromosome causes. It was interesting to note that this was the only mention of DiGeorge Syndrome during the conference. Finally it looks like the medical community, at least in Europe, is settling on a single term 22q11.2DS.

Testing for 22q11.2 continues to develop and today MLPA (Multiplex ligation-dependent probe amplification) and DNA microarray (also commonly known as DNA chip or biochip) are the preferred diagnostic tests. These are not only more accurate at picking up smaller deletions which may have been missed by the FSH test but have the advantage of identifying the exact genes missing (typically around 50). There is also the advantage that this information can be more readily shared with other professionals working in this field. Professor McDonald-McGinn also mentioned the latest research from Dr. Grati http://onlinelibrary.wiley.com/doi/10.1002/pd.4613/abstract which identified the incidence of 22q in prenatal samples from foetuses without cardiac anomalies at 1 in 992 suggesting that the condition is more common that originally thought.

The second presentation was from Professor Ann Swillen from the University of Leuven (Belgium) on "Developmental Trajectories" of children with 22q.  Professor Swillen outlined the cognitive development of people 22q from pre-school to adulthood and the impact of this on behavioural and psychiatric traits. It was mentioned that people with 22q do not recognise things presented in an unconventional way and that more time needs to be given for the processing of images. Visual perception is important for many things in life including motor skills, academic skills, living skills and social and communication skills. Professor Swillen said it is important to remember that mind and body work together. This was a key theme of the conference, it was said on several occasions that stress and anxiety have a negative effect on psychiatric wellbeing. Professor Swillen mentioned the importance of people with 22q having contact with other people with the condition.

The final presentation before the lunch break was "Why we monitor the condition development of children and adolescents" by Dr. Sasja Duijff a paediatric psychologist from University Medical Center, Utrecht (Holland). Dr. Dujiff said that when we discuss 22q we always talk about averages. However the "average" person with 22q does not exist, although there are common traits which many people with 22q have.

It is quite typical for the IQ of children with 22q to decline from the initial reading however there is a subset of children and adolescents where the decline in IQ is more marked. This subset is more susceptible to developing schizophrenia and it was recommended that IQ is tested regularly (every 2-3 years). Parents should look out for any behavioural differences which appear as early intervention is important. It was said that pets can make a difference to well being and that playing a musical instrument can also have a positive effect.

The morning session finished with a presentation from a parent who spoke about how learning to play the piano had improved her son's wellbeing.

The afternoon sessions focused on Social Development and began with a presentation from Dr. Caroline Demily of Hopital Le Vinatier in Lyon (France) on "An integrative approach to treating social cognition" Social cognition focuses on how we process store and apply information in social situations such as recognising facial expressions, how we perceive other people's emotions and the describing of our emotions. Dr. Demily's team has  developed a cognitive remediation therapy program to help children overcome these difficulties using a cartoon character Cognitus.

This was followed by a presentation from Magali Ngawa from the University of Liege "Language and Social Skills in Infants and Children" who discussed language skills and the link with social and emotional problems. In particular the fact that poor language skills can lead to high anxiety and difficulties in relating to others and the outside world. The theme of communication difficulties and social skills carried on into the next session with a presentation from Dr. Bronwyn Glaser and Dr. Maude Schneider from the University of Geneva "Group training via Skype for improving social skills in the syndrome" who spoke of the issues that adolescents and adults have in developing relationships due in part to their difficultly in reading social cues and understanding other people's emotions and perspectives. The team in Geneva have been using Skype to run a 12 week program for a small group of adolescents with 22q to provide training on understanding emotions, anger management, empathy, non verbal communication, role playing and social awareness  and we saw film of one of these sessions. This was followed by a number of presentation from parents and also from a teenage girl with 22q who has participated in the Skype training sessions. The formal part of the day concluded with workshops on Social & Cognitive development. 

We attended the session which dealt with the issues facing 8-12 year olds and this was a great opportunity for parents to discuss the challenges that our children are facing and how we have dealt with some of these issues. In my view the ability to speak with other parents and to learn from their experiences are invaluable and I would suggest that anyone planning a conference should make sure that they schedule sessions for parents to speak with experts and to discuss issues among themselves.

After a brief visits back to the hotel we were off to a dinner which provided more time to speak with other parents and some of the professionals who were in attendance. This was a very pleasant end to a very full day !

Day 2 

At 9 a.m next morning We were back in the auditorium for the day's presentations which were all covering psychiatric issues. 

The first presentation was made by Dr. Marco Armando (Research Children's Hospital Bambino Gesu, Rome). Dr. Armando started the presentation with some fact about psychiatric issues in the general population which I found quite surprising. 50% of psychiatric disorders start by the age of 14 and 75% of disorders start by the age of 25. Mental health is clearly a major issue for all adolescent. However for adolescents with genetic syndromes psychiatric disorders are significantly more common. 

22q patients with psychiatric disorders show significantly lower role and social functioning. Great advances have been made in treatment during the last 10 years and early intervention is key to successful treatment.

Professor Stephan Eliez (University of Geneva) made a presentation on "Detecting psychotic symptoms". Again it was mentioned that early detection of symptoms is very important and that early intervention can eliminate or delay the onset of psychotic symptoms. The onset of psychotic symptoms can occur at the age of 8-9 but the average age of a first psychotic episode was around 15/17 years old. The key age group to watch is 11-22 year olds. After the age of 22 few new cases were identified. Professor Eliez showed a video of interviews he had conducted with children and adolescents in which they discussed the symptoms they were experiencing. Many children do not discuss the symptoms they are experiencing with their parents and it is important for parents to encourage their children to be open and to discuss their fears and concerns.

Professor Therese Van Amelsvoort (University of Maastricht) discussed "Clinical management in adulthood" and the problems that arise when health care breaks down during the transition from child to adult care at around the age of 18. At 18 patients are considered to be adults and are on their own. Parental consent is no longer required and parents have no entitlement to be advised of the treatment their children are receiving. Appointments can be missed and medicines not taken. Cognitive Behavioural Therapy can be useful but the CBT Therapist should be someone specialising in treating people with learning difficulties. Again the link between anxiety, stress and psychiatric issues was highlighted.

The final presentation of the conference was from Professor Doron Gothelf (Tel Aviv University) who discussed the common psychiatric disorders associated with 22q such as ADHD and the effectiveness of drugs such as Ritalin and Concerta on the treatment of symptoms.

The last session was another breakout session which gave us another chance to discuss our experiences with other parents.

Overall this was a very good conference, many nationalities from around Europe were represented and although many of us spoke different languages there was a common bond and a lot of nodding of heads when presenters spoke about something which we, as parents, were very familiar with.

It is good to see the number of professions involved in research into 22q who appear to collaborate well with each other and I can only see knowledge of the condition accelerating in the coming years. It was great to meet many other parents from across Europe and also other family support groups. At The 22Crew we are great believers in the sharing of knowledge with other support groups and their families. One of the decisions made at the meeting was to look into forming an association of European family support groups which would facilitate the sharing of information across borders.

Finally I would like to thank everyone at  Relais 22  for putting together such an enjoyable and informative conference.