Copenhagen proved to be a wonderful location for the 6th International CdLS conference. The picturesque city offered lots attractions for the families to discover, and the Radisson Blu Scandinavia hotel was perfect for holding the event.

Thursday July 28 was registration day and a chance for families to meet up and chat. The evening was commemorated with a reception at the City Hall - which was hosted by the Danish health minister and conference chairman Henrik Hasselstrom. Delegates were later treated to a feast of locally made pancakes.

Friday was the first full conference day. Dr Angelo Selicorni introduced the first speaker, Birgit Barnes, a social worker from Roskilde Hospital, Denmark who spoke about the Danish welfare system with regard to families who have handicapped children. Dr Jane Law of New South Wales, Australia, talked about health assessment of adults with CdLS at a specialist Developmental Disability Health Unit in Sydney, which holds two to four specialist CdLS clinics per year. Next to the podium was Feliciano Ramos with an insight into Spain’s Rare Diseases Strategy. CdLS patients are given multi-disciplinary treatment at a specialist centre in the University Hospital Clinic in Zaragoza in Spain.

Our very own Dr Jo Moss from the Cerebra Centre for neuro-developmental disorders gave delegates an insight into social and behavioural differences in people with CdLS. The address covered autistic spectrum disorders as well as social anxiety and repetitive behaviours. The message was that while CdLS people MAY display ASD characteristics, there are differences and a degree of variability with CdLS.

Jo’s colleague from Cerebra, Professor Chris Oliver – who was elected

chairman of the SAC at the meeting - gave the conference an address on the behavioural phenotype of CdLS - as well as an update on self-injurious behaviour findings in the syndrome. He said that pain, particularly from reflux, is often the cause. He cited an instance where the source of pain was treated and the behaviour improved dramatically. “Challenging behaviours also change with age and may get worse,” said Prof. Oliver.

Prof Oliver highlighted that many CdLS behaviours are rooted in the frontal lobe part of the brain - this manages some aspects of memory and inhibits inappropriate behaviour. It is anomalies here that lead to many of the behaviours seen in CdLS.

He also touched on autism and said: “Autism and/or ASD is different in CdLS – ASD but not quite. A diagnosis of either may not be entirely accurate but if it helps in gaining, support, information or access to benefits and services, parents should go with it, while recognising the differences.”

The first session of the afternoon was from Dr Helle Hjalgrim from the Danish Epilepsy Centre. “Epilepsy can often be misdiagnosed or confused with other types of seizure. It is therefore important to get an accurate diagnosis confirmed as anti-epilepsy drugs can have side effects,” said Dr Hjalgrim.

Dr Antonie Kline from the Harvey Institute for Human Genetics in Baltimore, USA, gave an address on ageing in CdLS. “CdLS people age prematurely with regard to the skin and musculoskeletal system. There should be regular checks on all of the facets of CdLS as they get older,” said Kline. Two areas of concern were bone density (osteoporosis), and reflux. If left untreated both can lead to Barrett’s Oesophagus and potential formation of pre-cancerous cells.

After a full-on day we experienced a real Danish get together called a “Hygge.” Tea and coffee was offered with some sweets and snacks at candlelit tables while families chatted together.

Day 2 was just and busy and informative. Speakers included Dr Angelo Selicorni from Italy speaking about different genotypes and phenotypes of CdLS and what has been learnt about them so far. One of the overriding conclusions was the wide variability of CdLS and that even those individuals with one of the known gene mutations present (about 55-60%) have very different symptoms regardless of the genetic diagnosis.

Dr Natalie Blagowidow from the Harvey Institute in Baltimore spoke on the gynaecologic, urologic and sexual changes with puberty saying: “Most of the issues are the same as for most of the population but development is delayed overall in CdLS. There are also extra difficulties with the associated intellectual disability of CdLS.”

The afternoon covered gastro-intestinal issues. Dr Peter Gillett from Royal Hospital for Sick Children, Edinburgh, UK talked about reflux as the main topic. He outlined his policy of getting on with treatment when a patient presents symptoms of reflux rather than going for a battery of tests. If medical treatment is unsuccessful then tests are necessary. Dr Margaret Marcon from Hospital for Sick Children in Toronto, Canada. She presented an ongoing pilot scheme for constipation and toilet training in children with autism or ASD. This is due to be concluded by March 2012.

No International conference would be complete without the gala dinner - and this year’s event was one of the best. Over a three-course meal, delegates were also treated to a feast of entertainment which included the De Kongelige Tenorer (The Three Tenors) from Copenhagen’s Royal Opera, no less! They were supplemented by a soprano giving renditions of various operatic arias – with a high degree of comedic mucking about! Later, there was the vocal talent of 13 year-old Thomas Melstrup, who brought the house down with his selection of contemporary ballads. The 7th CdLS conference will take place in the South American country of Argentina in July 2013. We will keep you informed of all details.d Sam.