Exploration of Depressive Symptoms in Children with Neurofibromatosis (NF)

Abstract

Abstract Background: Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder that affects one out of 3,000-4,000 people in the United States. The phenotypic manifestation of the disease is highly variable and includes a wide range of physical and psychological symptoms. Unfortunately, there is a paucity of studies that evaluate the psychosocial experience in the pediatric NF1 patient population despite its impact on day-to-day life. Objective: The objective of the proposed study using qualitative and quantitative measures was to create a comprehensive description of psychosocial/behavioral symptoms with a focus on depressive symptoms in children with NF1. Specific aims were to: (a) describe the psychosocial experience of children with NF1 including psychosocial descriptors, feelings, and perceptions of the impact of NF1 on quality of life from qualitative and quantitative perspectives. (b) explore the relationships between the descriptions obtained from the child’s interview and the information obtained from their quantitative scores on the child self-report (YSR and CDI 2), and (c) to examine the relationship between emotional problems and physical symptoms on Children’s Depression Inventory 2nd Edition (CDI 2) and the Child behavior Checklist (CBCL) between the child self-report (CDI 2 and YSR) and parent/guardian report (CDI 2:P and CBCL). Method: Children aged 11-17 who have a diagnosis of NF1 and one parent/guardian who are both English speaking were asked to participate. This study is unique in that it garnered information through a combination of qualitative and quantitative methods. Each child underwent a qualitative interview and completed two questionnaires, Youth Self-Report (YSR) and Children’s Depression Inventory 2nd Edition (CDI 2:SR) The parent was asked to complete the Child Behavior Checklist (CBCL) and Children’s Depression Inventory-2nd Edition: Parent (CDI 2:P). Results: Twenty participant-parent/guardian pairs were enrolled in the study. Participants were predominantly white (65%) and the average age of child participants was 12.5 years (SD 2.0). Seven categories emerged from the 20 interviews: NF understanding, physical symptoms and disease presence, emotional health, academic problems, friend and family relationships, perceptions, and desired changes. The CBCL Total competence score mean (SD) rated by parents, which is the sum of the activities, social, and school scales in this small sample was 38 (11.8) which is in the borderline range and 39.9 (12.3) which is closer to normal (T score>40) when self-reported by children with NF1. The CDI 2 Total score is an overall index of depression symptoms. The mean (SD) on the CDI 2 for children aged 7-12 (n=12) was 52.8 (13.7) and for adolescents aged 13-17 (n=8) was 53.9 (12.1). Although there were individual participants who had scores of 65 or higher (n=3), indicating the child was struggling with a number of depression symptoms, overall Total T scores were below the depression threshold. Finally, a visual representation between parent/guardian report (CDI 2:P and CBCL) and the child self-report (CDI 2 and YSR) was explored. Conclusion: Semi-structured interviews were conducted with children about their understanding of NF and the impact of their disease on quality-of-life, academics, relationships with friends and family, review of systems, feelings, and desired changes. Although participants reported some sadness, depressive symptoms were not overwhelmingly evident in most children in this study. Instead, a diverse range of emotions were noted including irritability, anxiety, annoyance, anger, aggression, happiness, and others suggesting the need for repeating this study with a larger sample. The emotional problems T-score revealed the most visual agreement between parent and child but is interpreted cautiously due to limited range of values and the small sample size. The results emphasize the importance of including their psychosocial environment and parental observations as part of a more comprehensive assessment of patients with NF.