Children with 4q-syndrome: the parents' perspective.

A questionnaire survey was conducted among the parents of 32 not previously described children with 4q-syndrome, and 4 affected adult relatives. The questions related to the medical condition of the individual child and the interactions between parents and health professionals. The response rate of the survey was 58 %, and the mean age of the patients was 11.2 years. Thirty eight percent of children were diagnosed within the 1st month of life. Most parents felt severely distressed at the time of diagnosis and 66 % complained about a lack of medical information made available to them. However, parental understanding of the genetic aetiology responsible for the 4q-syndrome was overall good. Apart from a multidisciplinary team of healthcare workers, the internet and religion were named as sources of support. In all, 86 % of parents valued the experience of having a child with 4q-syndrome highly despite the difficulties involved.