The Development and Validation of Comprehensive Questionnaires for Pitt Hopkins Syndrome Daily Functioning and Gastrointestinal Symptoms

Pitt-Hopkins Syndrome is not a well-known disorder, and there are not many treatments dedicated to alleviating the severe symptoms that children and adults with Pitt-Hopkins Syndrome suffer through. The purpose of this study is to create questionnaires tailored to Pitt-Hopkins syndrome. With the dearth of Pitt-Hopkins Syndrome research, more knowledge on the disorder and treatments to aid in daily functioning and quality of life can be attained through specialized symptom tracking questionnaires. During this study, the research team designed and finalized two Pitt-Hopkins Syndrome symptom specific questionnaires. Some of the most notable results included the discovery of the most severe symptoms: verbal expression, cognition, social activity, and attention. Additionally, through cross-correlational analysis interrelated symptom clusters that can be targeted for treatment have been discovered.