The study is called GENTOS and its goal is to find out how often extensive DNA testing can identify a genetic cause in children and young people with TOS. In addition, it is also examined how often there is a new DNA change in the child or one that is also present in one of the parents.
Children and young adults with TOS are being sought for the study, of which both parents also want to participate. In order to participate in the study, a number of conditions must be met.
For the child or young adult it is important that the age is between 3 and 25 years. In addition, the TOS must be established in the Netherlands. It is also important that the child has an indication for cluster 2 education or outpatient cluster 2 support. The non-verbal IQ must also be 70 or higher. Also, no autism spectrum disorder (ASD) must be diagnosed. Finally, it is important that no DNA research has yet been performed by means of exome sequencing or genome sequencing – or the results of this are not yet known.
In the family it is important that both biological parents are available for the genetic research. In addition, it is important that any other children in the family, ie the siblings of the child or young adult with TOS, do not have language/speech problems or autism spectrum disorder and have not received special education. This also applies to both parents.
For the examination, the child or young adult comes together with his or her parents to the Clinical Genetics outpatient clinic of Radboudumc in Nijmegen. This happens once. The doctor-researcher maps out the (language) development and medical history. Blood is then drawn from both the child or young adult and both biological parents.
The participants generally do not receive the results of the study. However, if a possible cause of the language development disorder comes to light during the study, the participants may be informed about this. In that case, they are again invited to the outpatient clinic to discuss this.
By: National Education Guide / Eline Boer