Abstract
This study was an investigation into the psychology of the rare metabolic condition - Gaucher’s disease. The idea for this exploratory study originated in the relatively large number of Gaucher patients attending the metabolic clinic at Great Ormond Street Hospital. It was thought that they would be an appropriate sample of patients to study in order to provide preliminary neuropsychological data on the condition, as there is very little such data at present. The interest in detailing neuropsychological profiles in Gaucher’s disease is the promise this would have in terms of exploring: 1) the nature of the disease itself, 2) the differential effects of the treatments currently available - Bone Marrow Transplantation (BMT) and Enzyme Replacement Therapy (ERT). Patients have traditionally been classified into three types on the basis of phenotypic and genotypic characteristics. Type I patients have physical symptoms such as bone deformity and enlarged spleens, but it is thought do not show any manifestation of central nervous system (CNS) involvement. Type II patients present with CNS involvement, but die in infancy, whilst Type III patients also show CNS involvement in terms of abnormal eye movement, referred to as ocular motor apraxia (OMA ) or saccade initiation failure (SIF), spasticity and fits. Thus CNS involvement is documented in cases of Type II and III Gaucher’s disease, and the aim of treatment is to arrest this. One way of evaluating the success of treatments in this respect is the regular monitoring using neuropsychological tests. It was the neuropsychological and behavioural data collected on 14 patients as a result of clinical assessment and monitoring which was used to address: 1) whether distinct neuropsychological profiles exist in the different types and 2) differences in treatment effectiveness. This data was discussed in terms of: 1) current neuropsychological models of brain damage, 2) directions for future research and 3) the value of conducting research in such a specialised area.