Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Abstract

Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. Despite normal intellectual functioning, psychosocial and behavioral difficulties have been observed in this syndrome. However, few studies have dealt with these aspects, even though this could enhance the current understanding of the SRS and, more importantly, improve the management of potential psychosocial problems. Given the sparse literature, this cross-sectional study aimed to establish the psychosocial and behavioral profile of individuals with SRS. To this end, we assessed the quality of life (World Health Organization Quality of Life Questionnaire-Short Form), self-esteem (Coopersmith's Self-Esteem Inventory), anxiety (Spielberger's State-Trait Anxiety Inventory), and behavioral and emotional problems (Child Behavior Checklist and Adult Behavior Checklist) in a sample of 19 adolescents and adults with SRS and 18 without SRS (controls). We also analyzed clinical features, molecular genetic diagnosis, and past or current treatments of participants with SRS. Based on prior studies, we expected to observe psychological and behavioral difficulties in our clinical population. We also expected these difficulties, shared by both adolescents and adults with SRS, to be associated with factors such as height, genetics, or treatment. Overall, our results showed that participants with SRS had similar performances to those of controls, despite high interindividual variability among the adults with SRS. For example, while adults with SRS had a similar mean total self-esteem score to control participants, 45% of the adults with SRS still had very low self-esteem. In addition, adolescents and adults with SRS did not necessarily have the same difficulties. Social and behavioral problems appeared to be more common in adolescents with upd(7)mat while in adults, difficulties were not associated with either height, weight, NH-CSS score, or GH treatment but did appear to be associated with GnRHa treatment. Indeed, low self-esteem was associated with GnRHa treatment. Overall, this study shows that early intervention and multidisciplinary care right up to adulthood, including psychological support, are needed for this population, regardless of the molecular abnormality responsible for SRS, to cope with potential psychosocial problems.

Keywords: Adolescents; Adults; Anxiety; Genotype; Self-esteem; Silver-russell syndrome.