A pilot national-access young person's Klinefelter Syndrome multidisciplinary team clinic: patient and clinician reported outcomes

Abstract

ABSTRACT Introductions Most children are diagnosed with Klinefelter's as part of investigating learning and behavioural difficulties or during prenatal screening. Klinefelter's is the most common chromosomal abnormality affecting men (1 in 650) and is associated with a large spectrum of clinical manifestations including learning, behavioural and developmental delays. The optimal management of this condition involves many different specialties, as seen in the development of adult Klinefelter multidisciplinary team (KSMDT) clinics. Unfortunately, young patients are often outside the remit of these adult clinics, and often experience major gaps and delays to the patient pathway, with a lack of coordination in areas such as hormone replacement therapy, psychological & educational support and fertility counselling. Based on this, a national survey was carried out to assess the needs of young (16-20) Klinefelter Syndrome patients which led to the setting up a young person's KSMDT clinic model for KS. We report on the patient and clinician reported feedback in the first 6 months of this clinic. Method The structure of the pilot young person's KSMDT clinic included input from endocrinologists, a fertility team of urologists & reproductive medicine doctors, a psychology team involving both clinical and educational psychology, a neurodisability team, genetics specialists as well as a specialist pharmacist and a patient liaison. Each consult was specifically structured to the patient's priorities, with both the patient and parent invited to attend and to separately indicate these priorities. Ten patients (mean age 17, range 16 – 20) were seen in the first clinic. To assess the quality of care received in the clinic, an 8 -point feedback questionnaire was given to each patient & parent attending the clinic to fill out at the end of the clinic. The form included a space for feedback for each speciality involved. The feedback forms were reviewed by 2 individual researchers and entries were assessed using an adapted Likert scale (0 – 5). Clinicians involved in the clinic were also encouraged to attend and rate the other specialties, the effectiveness of MDT clinic. Results All patients & parents were satisfied about the structure of clinic, the provision and management plans. 94% of patients indicated they were very satisfied (score = 5) about endocrine consultation compared to 100%, 90% and 88% in genetic, neurodisability/psychology and fertility consultations respectively. Key factors influencing these positive results included the presence of detailed fertility counseling, access to patient support groups and having a transition plan to the adult KSMDT clinic. Clinician feedback was positive with all members agreeing that the pre and post clinic MDTs allowed effective discussion of complex issues such as hormone initiation, future fertility as well as socio-educational factors affecting the well-being of the patient. Conclusion The overall patient and clinician feedback for the young person's KSMDT clinic was uniformly positive, with the multispecialty approach allowing communication with and between all relevant specialities on the same day, avoiding the need to come for multiple separate appointments across different sites (especially relevant during the Covid era). A fully fledged clinic is now running based on the feedback and insight provided from the pilot process, with a seamless transition of these young patients to our adult KSMDT clinic to continue to support them. Disclosure Work supported by industry: no.