Publications by authors named "James Nutter"
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.
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- Achondroplasia is a condition marked by disproportionate short stature and various medical complications, prompting the need to understand treatment goals of those affected.
- A qualitative study involving interviews with parents of children and adults with achondroplasia identified two main goals for pharmacologic treatment: reducing medical complications and increasing height to improve daily functioning and social interactions.
- Findings highlight the importance of tackling chronic pain and surgeries while considering the emotional aspects of treatment, such as identity and social stigma, providing useful insights for parents, healthcare providers, and policymakers.