The Impact of Rare Genetic Disorders on Family Functioning

Abstract

The increasing presence of genetic neurodevelopmental disorders (NDDs) results in greater demands for counseling. Many studies focus on the characteristics of patients, but less on family functioning. The aim of this study is to objectify parental stress and to study its relationship with child characteristics and environmental factors across several syndromes. 56 individuals with NDD participated: 24 with Kleefstra Syndrome, 13 with Koolen-de Vries Syndrome, and 19 with other rare (mono) genetic disorders. Parents were asked to complete the General Functioning subscale of the Family Assessment Device (FAD-GF), the Child Behavioral Checklist, and a questionnaire about demographic parental data. 25.5% of the families scored above the cut-off for pathological stress (>2.17). The mean FAD–GF score was 1.84. There was no significant difference between mean FAD-score of the subgroups (p=0,70). (Para)medical counselors should address this high amount of parental stress during counseling and consider these genetic syndromes as complex chronical illnesses.