Research was carried out to consider the cognitive, learning and behavioural impact of Shwachman-Oiamond Syndrome (SOS) on children and adolescents. Although a physical condition, it is increasingly suspected to produce significant psychological and behavioural effects. Anecdotal evidence suggested that children with SOS had similar cognitive, behavioural and social presentations that differed from the normal population, suggesting developmental patterns that may result from SOS. Research to confirm the presence of such patterns would provide information to support the development of appropriate psychological and educational strategies for children and their families. The findings may also initiate the establishment of an indicatory tool towards a formal diagnosis. Standardised tests considering cognitive and academic ability were administered to 22 children diagnosed with SOS, aged 6 to 16. The results were compared with normative data using one-sample t-tests. Further standardised questionnaires assessed quality of life, self-concept and resiliency, and the results were compared to normative data and to a quasicontrol group diagnosed with cystic fibrosis (CF), to control for having a chronic illness. Additionally, all the children's parents completed questionnaires on their child's quality of life, behaviour and executive function, and the results from both groups were compared with each other and to normative data. The results for SOS children showed a significant difference compared to the quasi-control and normative data across all the target dimensions, apart from variables of mood and resiliency. Quality of life and self-concept scores were significantly lower in the SOS group than in the normal population or the CF group. Social skills and integration also appeared negatively affected in SOS. Thus, children with SOS appeared to follow similar cognitive and behavioural trends that differed significantly from the normal population, providing potentially recognisable patterns to aid diagnosis. The thesis also considers some limitations of the study and suggests further potential research