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Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study
Ferdy S van Geest1, Stefan Groeneweg1, Veronica M Popa2
1Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, 3015 CN Rotterdam, The Netherlands.
Insights
Caregivers of patients with Monocarboxylate transporter 8 (MCT8) deficiency face challenges with feeding, motor skills, and sleep. Early diagnosis and multidisciplinary care are crucial for improving outcomes in this rare neurodevelopmental disorder.
Area of Science:
- Neuroendocrinology
- Metabolic Disorders
- Rare Diseases
Background:
- Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder.
- Daily care presents significant challenges and burdens for caregivers.
- A comprehensive overview of patient needs and care challenges is currently lacking.
Purpose of the Study:
- To systematically capture data on the complex needs and daily care challenges of patients with MCT8 deficiency.
- To provide insights for improving patient-centered multidisciplinary care.
- To define patient-centered outcome measures for intervention studies.
Main Methods:
- Established an international prospective registry for MCT8 deficiency patients.
- Collected parent-reported data on daily care difficulties and diagnostic trajectories.
- Analyzed data from 51 registered patients between July 2018 and May 2022.
Main Results:
- Feeding/nutrition (17/33), motor skills (12/33), and sleep (11/33) were primary daily care challenges.
- Only 11/36 patients received dietary advice, despite underweight being a key feature.
- Diagnostic delay was significant (median 8 months for recent births vs. 19 months previously).
- Cardiology care was infrequent (2/32 patients) despite observed cardiovascular abnormalities.
Conclusions:
- Feeding, sleeping issues, and limited motor skills are major contributors to daily care difficulties.
- Lack of dietary advice and cardiology follow-up are critical gaps in care.
- Improving multidisciplinary care and outcome measures is essential for MCT8 deficiency patients.
Context:
Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive overview of these complex needs and daily care challenges is lacking.
Design:
We established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.
Results:
Between July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17/33 patients), limited motor skills (12/33 patients), and sleeping (11/33 patients). Dietary advice was provided for 11/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20/35 patients) and visiting a multitude of specialists (15/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P < .0001).
Conclusions:
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.
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