Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study
Authors' conclusion
Feeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.
Study context
- Population
- Patients with MCT8 deficiency; parent-reported data on complex needs and daily care challengesregistered
- Participants
- 51 patients
- Outcome
- Difficulties in daily life care (parent-reported)
Methodological detailsinternational, Registry period July 17, 2018 to May 16, 2022
- International
- Registry period July 17, 2018 to May 16, 2022
Main finding
As reported in the abstract
Feeding and nutritional status
17/33 patients
Limited motor skills
12/33 patients
Sleeping
11/33 patients
Observational data: associations, not effects.
Further findings
Median diagnostic delay, born in or after 2017 vs before 2017 · significantly shorter in born in or after 2017
P < 0.0001
Care received
- Dietary advice provided
- 11/36 patients
- Under care of a cardiologist
- 2 of 32 patients
Difficulties in diagnostic trajectory
- Late diagnosis
- 20/35 patients
- Visiting a multitude of specialists
- 15/35 patients
Original publication
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