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A 40-Year Cohort Study of Evolving Hypothalamic Dysfunction in Infants and Young Children (<3 years) with Optic
Stefania Picariello1,2, Manuela Cerbone3,4, Felice D'Arco5
1Neuro-Oncology Unit, Department of Paediatric Oncology, Santobono-Pausilipon Children's Hospital, 80123 Naples, Italy.
Insights
Paediatric optic pathway hypothalamic gliomas (OPHG) in young children cause significant endo-metabolic and neurobehavioural issues. Tumour location and treatments like radiotherapy and surgery increase these risks, necessitating early support.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Endocrinology
Background:
- Paediatric optic pathway hypothalamic gliomas (OPHG) have high survival but cause significant morbidity.
- Youngest patients with OPHG experience the worst outcomes.
- Understanding factors influencing long-term morbidity is crucial for improving patient care.
Purpose of the Study:
- To assess presenting disease, tumor location, and treatment factors impacting neuroendocrine, metabolic, and neurobehavioral morbidity in infants and children with OPHG.
- To analyze the evolution of these comorbidities over time.
- To identify risk factors for developing endo-metabolic dysfunction and neurobehavioral deficits.
Main Methods:
- Retrospective analysis of 90 infants/children diagnosed with OPHG before age three.
- Follow-up period of 9.5 years (range 0.5-25.0 years).
- Statistical analysis to determine associations between clinical factors and morbidities, including odds ratios (OR) and confidence intervals (CI).
Main Results:
- 57.8% of patients developed endo-metabolic dysfunction (EMD), significantly associated with hypothalamic involvement (H+) and diencephalic syndrome presentation.
- Radiotherapy and surgery increased the risk of EMD, particularly anterior pituitary disorders.
- Over half of the cohort experienced neurobehavioral deficits, linked to H+ and radiotherapy.
Conclusions:
- Very young children with OPHG face a high risk of endo-metabolic and neurobehavioral comorbidities.
- Tumor location (hypothalamic involvement) and adjuvant treatments (radiotherapy, surgery) are key determinants of morbidity.
- Timely and parallel support from diagnosis is essential to improve outcomes for these complex cases.
Abstract:
Despite high survival, paediatric optic pathway hypothalamic gliomas are associated with significant morbidity and late mortality. Those youngest at presentation have the worst outcomes. We aimed to assess presenting disease, tumour location, and treatment factors implicated in the evolution of neuroendocrine, metabolic, and neurobehavioural morbidity in 90 infants/children diagnosed before their third birthday and followed-up for 9.5 years (range 0.5-25.0). A total of 52 (57.8%) patients experienced endo-metabolic dysfunction (EMD), the large majority (46) of whom had hypothalamic involvement (H+) and lower endocrine event-free survival (EEFS) rates. EMD was greatly increased by a diencephalic syndrome presentation (85.2% vs. 46%, p = 0.001)), H+ (OR 6.1 95% CI 1.7-21.7, p 0.005), radiotherapy (OR 16.2, 95% CI 1.7-158.6, p = 0.017) and surgery (OR 4.8 95% CI 1.3-17.2, p = 0.015), all associated with anterior pituitary disorders. Obesity occurred in 25% of cases and was clustered with the endocrinopathies. Neurobehavioural deficits occurred in over half (52) of the cohort and were associated with H+ (OR 2.5 95% C.I. 1.1-5.9, p = 0.043) and radiotherapy (OR 23.1 C.I. 2.9-182, p = 0.003). Very young children with OPHG carry a high risk of endo-metabolic and neurobehavioural comorbidities which deserve better understanding and timely/parallel support from diagnosis to improve outcomes. These evolve in complex, hierarchical patterns over time whose aetiology appears predominantly determined by injury from the hypothalamic tumour location alongside adjuvant treatment strategies.
