Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers.

BACKGROUND: Rett syndrome is a rare neurodevelopmental disorder primarily affecting females. This syndrome is associated with many comorbidities and impairments related to motor function, breathing, sleep, expressive language, and repetitive hand movements. The Rett Syndrome Behaviour Questionnaire (RSBQ) is one measure used to assess changes in Rett syndrome-related manifestations or core symptoms. Little is known about how caregivers think about meaningful changes in the items that make up the RSBQ scale. METHODS: This qualitative study explored how caregivers of individuals with Rett syndrome viewed changes in the symptoms covered in the RSBQ. We conducted semistructured interviews with 40 caregivers and employed thematic analysis, identifying themes using an iterative process. RESULTS: Two factors characterized caregivers' thoughts about meaningful changes in Rett syndrome manifestations. First, general features of these symptoms rendered them bothersome: the extent of bother compared to other symptoms, if or how they prevented desirable behaviors and their temporal qualities. Second, caregivers evaluated the meaning of improvements by considering the decrease in bother and the potential benefits of change. Improvements had social and psychological consequences for individuals with Rett syndrome and caregivers. In addition, implications for health, fine and gross motor skills, and communication were also substantial.

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults.

INTRODUCTION: Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. As pharmacologic treatments continue to be developed for the treatment of achondroplasia, it is important to understand treatment goals among those affected by achondroplasia and the factors that shape their goals. METHODS: This qualitative study is based on semi-structured interviews with 19 parents of children with achondroplasia and five adults with achondroplasia in the USA. We employed thematic analysis using an iterative process to identify themes across the interviews. RESULTS: Participants had two goals for pharmacologic treatment of achondroplasia: ameliorating complications associated with the condition and increasing stature to overcome functional limitations and psychosocial challenges. Complications of particular concern were chronic pain and surgeries to repair spinal, ear, nose, and throat (ENT) problems, and neurological sequelae. Increased height would enhance independence, help individuals to fit in socially, and avoid social stigma. Countervailing factors included the importance of stature to their identity and the concern that the condition would remain despite treatment. CONCLUSIONS: This study offers evidence about how individuals affected by achondroplasia think about the pharmacologic treatment of this condition, including both the benefits of ameliorating complications and increasing height. The findings can offer practical insights for parents of children considering treatment, treating physicians, and decision-makers evaluating coverage decisions for treatment of achondroplasia.