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Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study
Veronica Maria Tagi1,2, Chiara Montanari1,2, Martina Tosi1,3
1Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children's Hospital, Milan, Italy.
Insights
Telemedicine (TM) integration into infant inherited metabolic disorder (IMD) care is feasible and well-accepted. This pilot study found TM did not negatively impact growth or metabolic control in infants with IMDs.
Area of Science:
- Pediatrics
- Metabolic Disorders
- Health Informatics
Background:
- Inherited metabolic disorders (IMDs) necessitate intensive nutritional management in infants.
- Evidence for telemedicine (TM) in infant IMD care is limited.
Purpose of the Study:
- To assess the feasibility and acceptability of integrating TM into routine nutritional management for infants with IMDs.
- To evaluate TM's impact on growth and metabolic outcomes in infants with IMDs.
Main Methods:
- A pilot study comparing TM-integrated follow-up versus in-person care for infants with IMDs.
- Assessment of anthropometric parameters, clinical signs, and disease-specific biomarkers at birth, 6, and 12 months.
- Caregiver questionnaires on TM satisfaction and patient quality of life.
Main Results:
- Seven of nine infants (78%) were managed with TM integration.
- Growth and metabolic outcomes remained within clinical targets in both groups.
- High caregiver satisfaction with TM (median 94.5%) and good quality of life scores were reported.
Conclusions:
- Partial TM integration is feasible and well-accepted for infants with IMDs.
- TM did not adversely affect growth or metabolic control in this pilot cohort.
- Larger studies are needed to confirm these findings and support wider TM implementation.
Background:
Several inherited metabolic disorders (IMDs) require intensive and continuous nutritional management, particularly during the first year of life. Telemedicine (TM) may support care delivery in this setting, but evidence in infants remains limited.
Objective:
The aim of this pilot study was to assess the feasibility and acceptability of integrating TM into routine nutritional management of infants with IMDs identified through newborn screening.
Methods:
Caregivers of infants with IMDs requiring nutritional management were asked to choose between telemedicine-integrated follow-up (TM group) or exclusively in-person care (NO-TM group). Anthropometric parameters and clinical signs of malnutrition were assessed at birth, 6, and 12 months of life. All measured disease-specific biomarkers were collected. Caregivers assigned to the TM group completed structured questionnaires evaluating TM satisfaction and patients' quality of life.
Results:
Nine infants with confirmed IMDs were enrolled and followed for 12 months. Seven patients (78%) were managed with TM integration. Growth trajectories and metabolic outcomes remained within expected clinical targets in both groups, and no clinical signs of malnutrition were observed in any patient. Disease-specific biomarkers in patients with phenylketonuria and citrullinemia type I remained within target ranges in both groups, with more stable phenylalanine levels observed in patients in the TM group. Caregivers reported high satisfaction with TM (median score: 94.5% of the maximum possible score). Quality of life scores were high in all patients.
Conclusions:
In this small pilot cohort, partial integration of TM into nutritional management of infants with IMDs appeared feasible, was well accepted by caregivers, and was not affected by evident adverse effects on growth or metabolic control during the first year of life. Larger studies are needed to confirm these observations and support wider implementation.
