Research on adults with Phelan-McDermid syndrome

Adults with a 22q13 deletion syndrome in the Netherlands

In the Netherlands, there are at least 25 adults who have been diagnosed with a ring chromosome 22 and/or 22q13 deletion, also known as Phelan-McDermid syndrome. The 22q13 deletion is often so small that it can only be identified using array-CGH , a very detailed type of chromosomal analysis. Such a deletion could not be identified by the older methods of microscopic chromosome analysis. We therefore expect that there are many adult patients still to be diagnosed, and that the number of adults with this diagnosis will increase every year.

Research on adults with a 22q13 deletion

There is still too little known about the health, development, behaviour and functioning of adults with Phelan-McDermid syndrome. For parents of young children with this syndrome, this is important information to be able to assess the future prospects of their child.

Our research on adults with a 22q13 deletion focuses on the collection of medical data and experiences from physicians and/or family members of those affected by asking them to fill in a comprehensive questionnaire. If necessary, and only with permission, we also ask for additional medical data. We keep our stakeholders informed about new findings via our Phelan-McDermid syndrome newsletter (sorry, this is only published in Dutch at the moment).

Suspect Phelan-McDermid syndrome but no diagnosis yet?

So far, the main characteristics of Phelan-McDermid syndrome in adulthood are severe developmental delay (especially speech delay), poor motor skills, autism-like behaviour, and mood disorders, but normal height and weight.

If you suspect that a family member or client has this syndrome, they can ask for a genetic test via a specialist in learning disabilities (arts verstandelijke gehandicapten), their clinician, or via a genetic specialist at one of the genetic diagnostic laboratories in their own country.

For more information see ‘Informatie voor patiënten’ (in Dutch) or contact the researchers (email: 22q13 umcg.nl ).