The neuropsychological and psychosocial development of children and adolescents with lipoid proteinosis

English: Lipoid proteinosis (LiP) is a rare hereditary disease, which often results in bilateral, symmetrical and circumscribed calcifications in the mesial temporal region (especially the amygdala). While studies on the neuropsychological and neuropsychiatric difficulties of adults with LiP have been published, a lack of research focusing exclusively on the neuropsychological and psychosocial development of children and adolescents with LiP was identified. A heterogeneous group of five children and adolescents with LiP, ranging in age from 4 to 17 years, and who represented the entire known population of children and adolescents with LiP in South Africa, was assessed with standardized neuropsychological measures and behaviour checklists. Two control participants were matched to each LiP participant according to IQ, home language, right- or left-handedness, sex, race and geographic environment (urban/rural). Each child or adolescent with LiP was compared separately with the control participants matched to them, as well as with the norm groups on which the various instruments were standardized. Variable results were obtained, but in general the children and adolescents with LiP performed significantly worse (practical significance) compared with controls on measures of memory, facial emotion recognition and executive function. Three of the LiP participants also adapted less well socially than their control participants did. All the LiP participants presented with behaviour problems, although the severity and types of behaviour problems varied. Two of the participants in this study presented with amygdala lesions that may have influenced their scores on neuropsychological measures and the ratings of their behaviour, but this possibility can be substantiated only by further research that includes the imaging of controls. The study provides a baseline assessment for future longitudinal and developmental research on LiP; therefore, the study can be regarded as a pilot study.