Nail-Patella syndrome : impacts of psychological suffering generated by a genetic disease on children development

Abstract

Background : Nail-Patella syndrome is a genetic disease affecting approximately one birth on 50.000. It is caused by a mutation in the LMX1B gene and it is characterized by skeletal malformations including nails, knees and elbow abnormalities. The aim of the present research was to deeply understand the subjective experience of patients affected by this syndrome and the consequences of symptoms on the personal identity construction. In this way, this research will allow to propose interventions in order to improve the patients’ experience and to address these potential difficulties as part of genetic counseling. Method: Nine semi-structured interviews were conducted and analyzed with the Interpretative phenomenological analysis. Findings: The results allowed to bring to light a childhood characterized by physical inabilities impacting social and school activities. The participants developed their identity considering themselves as being different from the others; a difference underlying a heightened sensitivity of others’ critical eye, self-acceptation difficulties and a social withdrawal. Throughout their self-development, the patients learned to implement some coping strategies in order to limit interpersonal consequences. At the adult age, the participants show a pseudo acceptance of their physical symptoms but the physical and psychological suffering persist over time. Discussion: The research highlighted the maladjustment of school activities and a need of assistance to improve the social insertion of these children at school. Moreover, a psychological assistance should be proposed to all members of families affected by Nail-patella syndrome given the important influence of self-acceptation difficulties and social withdrawal on children development.