CGEN/TUE/01 THIRTY-SIX NEW CASES OF 4Q− SYNDROME

¹E-M Strehle, ²PM Middlemiss. ¹International Centre for Life, Newcastle upon Tyne, UK; ²Rare Chromosome Disorder Support Group Unique, Caterham, Surrey, UK

Aims: A questionnaire survey was conducted among the parents of 32 children with 4q deletion syndrome and four affected adult relatives in order to delineate this evolving deletion syndrome further and to shed light on the roles of parents and health professionals caring for these children.

Methods: An eight-page structured questionnaire containing 19 main questions and several subquestions was sent to 55 parents and five affected adults. The questions related to physical characteristics, general health, behaviour, skills, relationship between health professionals and parents, effectiveness of communication and accessibility of health services.

Results: The response rate of the survey was 58% and the mean age of the patients was 11.2 years. 38% of children were diagnosed within the first 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. Parental understanding of the genetic aetiology responsible for 4q− syndrome was generally good. In all, 86% of parents valued the experience of having a child with 4q− syndrome despite the difficulties involved.

Conclusions: The results of this survey support the existence of a common somatic and behavioural phenotype in children with deletions of the long arm of chromosome 4. The findings can assist health professionals in giving more comprehensive information to patients and …