research on sleep disorders and epilepsy

In May 2014 we organized a special sponsored cycling tour to raise money for doing research into epilepsy and sleep disorders, symptoms that unfortunately are more common in boys with the ATR-X syndrome.

Research will be done into epilepsy and sleep disorders; what is causing it, whatever form is it, what is the impact on the daily functioning of the boys and what medications are best regarding other symptoms associated with the ATR-X syndrome?

We are discussing this with Kempenhaeghe in Heeze, an institution that is specialized in doing research into epilepsy and sleep disorders on children / adolescents with intellectual disabilities. First of all to be well prepared and second to arrange the research: we want the investigations to be as stressless as possible for the boys.

We will keep you informed of all developments on this page.

research on behavioral characteristics

In 2013 we have compiled aquestionnaire about behavioral characteristicsthat occur in theboys withtheATR-X syndrome.This questionnaireis madebecauseoften parents askwhethercertain behavior isassociated with theATR-X syndrome.There are23families(from the Netherlands and abroad) who have completed thislist, andwearetrying to processall the data.

Also we are creating a database on questions and answers from families all over the world. This way we hope to gain insight in questions that are important in a particular stage for example families with a young child who just got the diagnosis have other questions than families who have a child in puberty.

This information will come on a special page on this website. Also the results of the questionnaire will be included on this page.

Outpatient Clinic in the Netherlands

In September 2011 the outpatient clinic ‘RARE’ was launched at the Universal Medical Clinic St. Radboud in Nijmegen.

This clinic focuses on the diagnosis and monitoring of children and adults with rare forms of mental retardation. There are both a geneticist and a mental health doctor involved.

The outpatient clinic ‘RARE’ will do research on some symptoms associated with the ATR-X syndrome. Parents and practitioners can ask questions here.   A close partnership will be formed with the research team from Oxford and with the Dutch ATR-x Syndrome Foundation so that there will eventually be more clarity on the life of individuals with the ATR-X syndrome.

You can contact them via:

Research work at Oxford

In the UK, ATR-X research takes place in the labs of Doug Higgs and Richard Gibbons.

Doug and Richard have worked together on this condition for over 20 years. The group has been involved in describing the clinical features, identifying the gene involved and the nature of the defect in affected individuals.

Their present work is focusing on the following areas:

  • helping with the diagnosis of ATR-X syndrome
  • identifying the underlying genetic lesion in affected children
  • carrier and prenatal testing for families
  • developing new diagnostic tests for the condition
  • discovering how common ATR-X syndrome is
  • finding out about the different ways it affects children
  • how the clinical features in ATR-X syndrome arise
  • determining the function of the ATRX gene product and how it controls the activity of other genes

You can contact dr. Richard Gibbons via: