Fragility fractures in children and adolescence represent a clinically relevant and potentially under-recognized condition that may reflect an underlying impairment of bone strength due to primary or secondary causes. Despite their potential impact on growth, quality of life, and long-term skeletal health, the identification and management of pediatric bone fragility remain heterogeneous, largely due to the lack of guidelines and the limited availability of high-quality pediatric evidence. To address this gap, a multidisciplinary panel of experts from the Italian Society of Pediatric Endocrinology and Diabetology, in collaboration with other national scientific societies developed Good Clinical Practice Recommendations for the diagnosis and management of children and adolescents with fragility fractures. The development process followed the methodological framework of the Italian National Guideline System and was based on a systematic literature review and the GRADE methodology. Four key clinical questions were addressed: (1) the role of dual-energy X-ray absorptiometry (DXA) in predicting the fracture risk; (2) the use of next-generation sequencing (NGS) for the diagnosis of primary bone fragility; (3) the effectiveness of bisphosphonates in reducing fracture risk and improving clinical outcomes; and (4) the role of calcium and vitamin D supplementation in fracture prevention. These recommendations, revised and approved by the Italian National Institute of Health (INIH), aim to provide clinicians with a structured and evidence-based approach to improve the early identification, diagnostic work-up, and management of pediatric patients with bone fragility, promoting standardized care and reducing variability in clinical practice.
L. de Sanctis, G. Baroncelli, B. Pintaudi et al.· Italian Journal of Pediatric...· 0 citations
CONTEXT
Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized.
OBJECTIVE
To characterize neuroimaging abnormalities in children with genetically confirmed NS and evaluate their associations with clinical phenotype.
DESIGN, SETTING, AND PARTICIPANTS
In this multicenter retrospective study, brain MRI scans and longitudinal clinical and genetic data were reviewed from children with genetically confirmed NS evaluated between 2008 and 2023 at seven pediatric endocrinology centers.
MAIN OUTCOME MEASURES
Prevalence and spectrum of neuroimaging abnormalities and their associations with genotype and clinical features.
RESULTS
The cohort included 130 individuals with NS (71 males; mean age at MRI, 9.7 years), most carrying PTPN11 variants (69.2%). Structural brain abnormalities were identified in 84.7% and included midbrain-hindbrain malformations (69.2%), callosal anomalies (52.3%), cortical malformations (50%), white matter abnormalities (48.4%), and cranio-cervical junction anomalies (40%). Brain tumors and Chiari I malformation were present in 12.3% and 10.7%, respectively. Seizures were associated with cortical tumors (p = 0.02) and callosal anomalies (p = 0.03), whereas developmental delay was associated with callosal anomalies (p = 0.02) and microcephaly (p < 0.01). Follow-up MRI, available in 41 patients over a mean duration of 6.3 years, showed interval changes in 48.7%, including tumor progression, progressive tonsillar descent, odontoid retroversion, and newly detected lesions.
CONCLUSIONS
In this selected cohort of children with NS who underwent brain MRI as part of routine clinical care, structural brain abnormalities were frequent and were associated with neurological manifestations. These findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
G. Patti, Nadia Gabriella Maiorano, F. Piccoli et al.· Journal of Clinical Endocrin...· 0 citations
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