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Background <p>Spina bifida (SB) results from failure of fusion of the caudal neural tube leading to complications in several organ systems and considerable disability. The causes of this disorder are heterogeneous and multifactorial. Medical and surgical management is a lifelong necessity for people with SB (pwSB) and should be provided by a multidisciplinary team. Standardized collection of data in ad hoc registries represents an important tool to (i) collect clinical and epidemiologic data, (ii) assess the clinical management including the diagnostic delay, (iii) improve patients’ care and (iv) foster research to identify new therapeutic solutions. The present study aimed to shed light on the analyses from the first 1.000 patients included in the Italian SB registry (period 2020-23) thus boosting the contribution of registries of pathology in the improvement of knowledge and research.</p> Methods <p>The Italian SB registry was established in 2020 to (i) describe the natural history of the disease, (ii) determine the clinical effectiveness of health care services, (iii) measure and monitor the quality of care of patients. It is based on a web-customizable-based system for the collection of demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality data. Clinical data are updated annually during follow-up visits. Data quality is ensured by an automatic check performed by the system enabling a constant longitudinal and vertical control of data included in the registry. Descriptive statistics, including absolute and relative frequencies, mean, standard deviation, median, and percentiles, were used to summarize the quantitative variables of interest. the Pearson’s Chi-Square Test was conducted to study the association between the qualitative variables under study.</p> Results <p>A total of 1.000 pwSB were enrolled in the first 36 months after registry establishment (period: October 2020 to October 2023) from 15 Referral paediatric and adult Italian Centres; 66,8% and 33,2% of patients were enrolled in a paediatric and an adult Centre respectively (53% female versus 47% males). Forty-point-4% (40,4%) of patients was characterized by open spina bifida (OSB) while 59,6% by a closed spina bifida (CSB). Diagnoses were performed during the prenatal period (26,6%), at birth (41,7%) and within the first year of life (15%), most of these latter cases being characterized by a CSB. Associated primary malformations were reported in 57.4% of patients; among these, Arnold–Chiari II malformation was significantly associated with OSB (<i>p</i> &lt; 0.001). Lesions were mainly localized in the lumbosacral region (82.3%). Plastic surgery was performed in 549 patients, predominantly among OSB cases (73.5%).</p> Conclusions <p>The analyses of our data form, allowed to highlight important demographic and clinical aspects of SB useful to inform future actions to be taken by national health care services and health professionals. The present study represents the first report describing the Italian Spina Bifida Registry, aiming at demonstrating the feasibility and successful implementation of a national registry, which may serve as a foundation for future studies with direct implications for patient care.</p>

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The Italian Spina Bifida registry: insights from the first 1,000 patient data

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  • 发表日期：

    2026年8月4日

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  • Marco Salvatore,
  • Adele Rocchetti,
  • Giorgia Buoncuore,
  • Claudia Rendeli,
  • Margherita Capriati,
  • Maria Taverna,
  • Tiziana Redaelli,
  • Alessandra Leo,
  • Raffaella Bruno,
  • Maria Cristina Dieci,
  • Paola Torreri,
  • Marco Salvatore,
  • Adele Rocchetti,
  • Giorgia Buoncuore,
  • Claudia Rendeli,
  • Margherita Capriati,
  • Maria Taverna,
  • Tiziana Redaelli,
  • Alessandra Leo,
  • Raffaella Bruno,
  • Maria Cristina Dieci,
  • Paola Torreri,
  • Giuseppe Masnata,
  • Valeria Manca,
  • Flavio Giordano,
  • Asia Sani,
  • Alberto Manassero,
  • Alice Garzotto,
  • Emilio Casolari,
  • Claudia Gatti,
  • Ilaria Rossi,
  • Adriano Ferrari,
  • Silvia Sassi,
  • Elena Corradini,
  • Anna Marucco,
  • Valeria Capra,
  • Gianluca Piatelli,
  • Marco Pavanello,
  • Ferruccio Romano,
  • Laura Grazia Valentini,
  • Arianna Barbotti,
  • Giuseppe Cretì,
  • Rita Perna,
  • Giovanni Mosiello,
  • Giacomo Esposito,
  • Patrizia Pisano,
  • Alessia Peghin,
  • Barbara Tadini,
  • Alice Garzotto,
  • Carmen D’ Aleo

摘要

Background

Spina bifida (SB) results from failure of fusion of the caudal neural tube leading to complications in several organ systems and considerable disability. The causes of this disorder are heterogeneous and multifactorial. Medical and surgical management is a lifelong necessity for people with SB (pwSB) and should be provided by a multidisciplinary team. Standardized collection of data in ad hoc registries represents an important tool to (i) collect clinical and epidemiologic data, (ii) assess the clinical management including the diagnostic delay, (iii) improve patients’ care and (iv) foster research to identify new therapeutic solutions. The present study aimed to shed light on the analyses from the first 1.000 patients included in the Italian SB registry (period 2020-23) thus boosting the contribution of registries of pathology in the improvement of knowledge and research.

Methods

The Italian SB registry was established in 2020 to (i) describe the natural history of the disease, (ii) determine the clinical effectiveness of health care services, (iii) measure and monitor the quality of care of patients. It is based on a web-customizable-based system for the collection of demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality data. Clinical data are updated annually during follow-up visits. Data quality is ensured by an automatic check performed by the system enabling a constant longitudinal and vertical control of data included in the registry. Descriptive statistics, including absolute and relative frequencies, mean, standard deviation, median, and percentiles, were used to summarize the quantitative variables of interest. the Pearson’s Chi-Square Test was conducted to study the association between the qualitative variables under study.

Results

A total of 1.000 pwSB were enrolled in the first 36 months after registry establishment (period: October 2020 to October 2023) from 15 Referral paediatric and adult Italian Centres; 66,8% and 33,2% of patients were enrolled in a paediatric and an adult Centre respectively (53% female versus 47% males). Forty-point-4% (40,4%) of patients was characterized by open spina bifida (OSB) while 59,6% by a closed spina bifida (CSB). Diagnoses were performed during the prenatal period (26,6%), at birth (41,7%) and within the first year of life (15%), most of these latter cases being characterized by a CSB. Associated primary malformations were reported in 57.4% of patients; among these, Arnold–Chiari II malformation was significantly associated with OSB (p < 0.001). Lesions were mainly localized in the lumbosacral region (82.3%). Plastic surgery was performed in 549 patients, predominantly among OSB cases (73.5%).

Conclusions

The analyses of our data form, allowed to highlight important demographic and clinical aspects of SB useful to inform future actions to be taken by national health care services and health professionals. The present study represents the first report describing the Italian Spina Bifida Registry, aiming at demonstrating the feasibility and successful implementation of a national registry, which may serve as a foundation for future studies with direct implications for patient care.