Purpose <p>The aim of this study was to evaluate current real-world practices for the prevention and management of adrenal insufficiency (AI) among Italian physicians caring for children and adolescents with Duchenne muscular dystrophy (DMD) receiving chronic glucocorticoid (GC) therapy, a treatment known to improve motor and cardiopulmonary outcomes but to suppress the hypothalamic–pituitary–adrenal axis and increase the risk of adrenal crisis.</p> Methods <p>A cross-sectional online survey was distributed via national networks to Italian pediatric endocrinologists and neuromuscular specialists. The questionnaire explored clinician characteristics, patient caseloads, glucocorticoid regimens, stress-dose recommendations for mild, moderate, and severe illness, and proactive measures such as family education, emergency kits, written plans, medical alert identification, and electronic hospital alerts. Participation was anonymous.</p> Results <p>Thirty-five clinicians responded (57% pediatric endocrinologists, 43% neuromuscular specialists), most following 11–50 patients. Deflazacort was the predominant treatment (86%). For mild stress, 80% advised no additional GC. For moderate stress, 43% recommended no change to management, 31% provided oral hydrocortisone (HC), 17% advised extra daily GC, and 9% prescribed intramuscular HC. For severe stress, although 77% prescribed parenteral HC, 14% advised no change. Proactive measures were inconsistently implemented: 82% provided family education, 43% gave intramuscular HC prescriptions and training, 71% had written emergency plans, and 31% recommended medical alert identification.</p> Conclusions <p>This national survey reveals substantial variability and gaps in AI prevention and management for children and adolescents with DMD on chronic GC therapy in Italy. Harmonized national protocols, multidisciplinary coordination, and strengthened family education are needed to improve adrenal crisis prevention.</p>

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Survey of Adrenal Insufficiency Management for Duchenne muscular dystrophy in Italy

  • Gianluca Tornese,
  • Sze Choong Wong,
  • Anne Marie Sbrocchi,
  • Fernanda De Angelis,
  • Ilaria Zito,
  • David R. Weber,
  • Tommaso Aversa

摘要

Purpose

The aim of this study was to evaluate current real-world practices for the prevention and management of adrenal insufficiency (AI) among Italian physicians caring for children and adolescents with Duchenne muscular dystrophy (DMD) receiving chronic glucocorticoid (GC) therapy, a treatment known to improve motor and cardiopulmonary outcomes but to suppress the hypothalamic–pituitary–adrenal axis and increase the risk of adrenal crisis.

Methods

A cross-sectional online survey was distributed via national networks to Italian pediatric endocrinologists and neuromuscular specialists. The questionnaire explored clinician characteristics, patient caseloads, glucocorticoid regimens, stress-dose recommendations for mild, moderate, and severe illness, and proactive measures such as family education, emergency kits, written plans, medical alert identification, and electronic hospital alerts. Participation was anonymous.

Results

Thirty-five clinicians responded (57% pediatric endocrinologists, 43% neuromuscular specialists), most following 11–50 patients. Deflazacort was the predominant treatment (86%). For mild stress, 80% advised no additional GC. For moderate stress, 43% recommended no change to management, 31% provided oral hydrocortisone (HC), 17% advised extra daily GC, and 9% prescribed intramuscular HC. For severe stress, although 77% prescribed parenteral HC, 14% advised no change. Proactive measures were inconsistently implemented: 82% provided family education, 43% gave intramuscular HC prescriptions and training, 71% had written emergency plans, and 31% recommended medical alert identification.

Conclusions

This national survey reveals substantial variability and gaps in AI prevention and management for children and adolescents with DMD on chronic GC therapy in Italy. Harmonized national protocols, multidisciplinary coordination, and strengthened family education are needed to improve adrenal crisis prevention.