On the weekend of 10th-12th August 2018 we held our third family conference and social gathering.  The weekend was a huge success with 42 families from 11 different countries attending.

We would like to take this opportunity to thank Jeans for Genes for helping to fund this event along with the Kleefstra community who continue to fundraise and make donations to our charity.  This event wouldn’t have been possible without our guest speakers, music therapist, crèche staff and doctors who offered 1-1 appointments for our families.

We are pleased to be able to share the presentations from our guest speakers, along with some fantastic images which were captured throughout the events.

Dr Tjitske Kleefstra

Clinical Geneticist at the Department of Human Genetics, Radboud University, Nijmegen and was responsible for identifying the major gene (EHMT1) responsible for KS.  Tjitske continues to work passionately on KS research alongside her daily work as a Clinical Geneticist.  Tjitske gave an update on past and current research.

Dr Karlijn Vermeulen

Child psychiatrist with an interest in the psychiatric symptoms of KS. Karlijn presented her research around cognitive function, changes with age, sleep disturbances, psychosis and regression.  Karlijn works closely with KS families and is very passionate about her continued work.

Dr Tjitske Kleefstra & Dr Karlijn Vermeulen

A joint presentation by Dr Kleefstra and Dr Vermeulen on future KS research studies.

Dr Peter Gillet

Consultant Paediatric Gastroenterologist with an interest in GI problems in neurodevelopmental disorders.  According to the results of our recent survey constipation affects or has affected 60% of children and adults with KS making it the most prevailing additional diagnosis.  Aspiration Reflux was the third most common with 38% and CVS also affecting a smaller minority.  Peter discussed common GI problems and preferred treatment options for individuals with KS.   During his talk Dr Gillet reccommended the Guidelines for Management of Idiopathic Childhood Constipation document, produced by NHS Lothian.

Matthew Watts

Caring for someone with KS as a parent or carer can be hard work.  We can vouch for that after years of caring for our own children!  However, what’s it like for a sibling?  Matthew Watts (24) is older brother to Jamie (18) who has Kleefstra syndrome and very kindly offered to tell us about his own experiences.

Professor Chris Oliver

Professor of Neurodevelopmental Disorders at the University of Birmingham and the Cerebra Centre for which he is also Director.  His main research interests are behavioural, cognitive and emotional disorders in people with severe intellectual disability, genetic syndromes and autism spectrum conditions.  Slides are unavailable for this presentation, audio only.

Effie Pearson & Stacey Bissel (Cerebra)

Effie and Stacey spoke about the results from the critical communication skills study which was started at our previous conference.

Dr Jane Waite

Lecturer in Psychology, School of Life and Health Sciences at Aston University. Jane is a also clinical psychologist and researcher in the field of rare genetic syndromes. She completed her PhD and postdoctoral training with Prof Chris Oliver at the Cerebra Centre for Neurodevelopmental Disorders before moving to Aston University to develop her research further into mental health and well-being in children and adults with neurodevelopmental disorders.  Jane spoke about future research studies in KS.

 

Dr Siddharth Banka

Clinical Senior Lecturer, University of Manchester and Honorary Consultant Clinical Geneticist, Manchester University NHS Foundation Trust.  Sid discussed his work with rare disorder clinics and annouced plans for a dedicated clinic for KS patients to be piloted in the UK soon.

Dr Miranda Coberman

Mother to Ollie and Joe.  Ollie has Kleefstra syndrome and it just so happens that Miranda is a GP.  Since Ollie’s diagnosis it’s fair to say that Miranda has taken an interest in KS, especially looking at medical reasons for behavioural changes.  Miranda was also responsible for creating the “Top tips for triaging and treating kids with Kleefstra syndrome” leaflet.  She and Dr Vermeulen also wrote the “Mental Health in Kleefstra syndrome” booklet which was published by Unique.

Kleefstrasyndrome.org

Our conference info slides which ran prior to the start of the conference.  Please note there is no accompanying audio with these slides.

Family Networking

Conference

Crèche

Music Therapy

Dave Benson Phillips

You must not rely on the information on our website or in these presentations as an alternative to medical advice from your doctor or other professional healthcare provider. If you have any specific questions about any medical matter, you should consult your doctor or other professional healthcare provider.

Page updated: 20-09-2024