A comparison of clinical outcome, quality of life, emotional well being and cognitive function in those with chronic granulomatous disease managed conservatively and curatively

Abstract

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency, characterised by serious infections and inflammation. It can be managed conservatively, with prophylactic antimicrobials, or curatively with haematopoietic stem cell transplant (HSCT). In the UK and Ireland there are cohorts of children managed both conservatively and curatively. Previous research has shown patients with CGD have low intelligence and increased emotional difficulties. Chronic diseases are known to result in poor quality of life. This study aimed to evaluate: clinical outcome; quality of life; emotional well being and cognitive function in children managed conservatively and curatively. Children were identified from specialists centres and advertising through special interest groups. Clinical data were collected from medical records. Children and parents completed questionnaires measuring quality of life, emotional and behavioural difficulties and self-esteem. Children underwent brief IQ tests. Results were compared to published norms for healthy children. Non-HSCT and post-HSCT groups were compared.

78 children were identified. 59 (80%) living children were recruited. Clinical information was available for 62 children (four deceased). 30 (48%) children had undergone HSCT. Children with CGD had 0.71 episodes of infection/admission/surgery per CGD life year (95%CI 0.69-0.75 events per year). Post-HSCT children had 0.15 events per transplant year (95%CI 0.09- 0.21 events per year). Post-HSCT survival was 90%. Parents and children reported quality of life significantly below normal for in the non-HSCT group. Post-HSCT scores were not significantly different from healthy norms. Parents of non-HSCT children reported increased emotional difficulties compared to healthy children. IQ was normal in both groups.

Children with CGD have more serious infections, episodes of surgery and admissions compared to post-HSCT children. They also have poorer quality of life and are at risk of emotional difficulties. Post-HSCT children have normal quality of life. Cognitive function is normal in both non-HSCT and post-HSCT children.