ESPE2024 Poster Category 1 Pituitary, Neuroendocrinology and Puberty 4 (9 abstracts)
Prospective assessment of hypothalamic dysfunction (HD) in congenital or tumorous diseases and impact on quality of life.
Manuela Cerbone 1,2 , Helen A Spoudeas 1,2 & Mehul T Dattani 1,2
1Department of Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK, London, United Kingdom. 2Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom
Background/aim: HD is a life-threatening, but under-reported, disorder without accepted diagnostic criteria. We prospectively assessed the prevalence and severity of its 4 domains (sleep, appetite, temperature, thirst) in patients with congenital or acquired disorders, and their impact on quality of life (QoL).
Methods: 66 patients (35M/31F) aged 12.4 ± 3.1 years, at risk of HD from tumours (n:36) or congenital maldevelopment (n:30) followed for 8.2 ± 4.0 years. We scored families’ recall, examination, and questionnaires (VAS/Dickens for Appetite; VAS/CSHQ for Sleep; VAS for Temperature/Thirst) in the 4 domains. We considered HD present if ≥2 domains were affected, with the highest scores indicating severe disease. QoL was quantified by PedsQL questionnaires. Learning and mental health difficulties were reported.
Results:
| Tumours | Congenital | |
| HD (present/severe): | ||
| HD | 80%/46% | 74%/32% |
| Appetite Any weight disorder/obesity Deterioration overtime Dickens Drive (mean±SD) |
69%/37% 74.3%/49% #85.7% * 9.7±4.8 |
58%/23% 61.3%/42% #54.4% * 7.5±3.9 |
| Sleep Deterioration overtime |
57%/37% 70.0% |
61%/32% 62.5% |
| Temperature Deterioration overtime |
63%/27% 54.2% |
61%/29% 42.1% |
| Thirst Deterioration overtime |
57%/§40% 52.9% |
45%/§13% 44.4% |
| Learning difficulties | ||
| Presentation/follow-up | &23.5%/&62.9% | 45.2%/45.2% |
| Mental health difficulties | ||
| Presentation/follow-up | ¶14.2%/¶51.4% | ©6.7%/©38.7% |
| Autism/ADHD | 21.1%/2.9% | 38.4%/7.7% |
| § P = 0.025, post operative in 50% of tumours; # P = 0.015; * P = 0.032; & P <0.001; ¶ P <0.001; © P = 0.003. | ||
Parents reported higher PedsQL score (lower QoL) i) in those with HD (P <0.001, severe HD P = 0.002), driven by Appetite (P = 0.001, severe P = 0.002) and Sleep (P <0.001, severe P <0.001), but not temperature/thirst dysregulation, and ii) in those with learning (P = 0.001, severe=0.012) and mental health (P <0.001, autism P = 0.054, ADHD P = 0.029) disorders, but not with visual deficits.
Conclusion: Prospective score assessment identifies a high prevalence of HD and its significant impact on QoL in both brain tumour survivors and congenital/syndromic cases; and reveals the high mental health and learning deficits correlates (40-60%), which remain largely unaddressed in both clinical endocrine and oncology settings. The higher prevalence of learning difficulties at presentation and autism/ADHD in congenital disorders is likely a consequence of associated brain abnormalities, but the tendency to deteriorate over time is more evident in the tumour group, consequent on recurrence/oncology treatments. Contrary to assumptions, visual loss is less detrimental to QoL than the appetite/sleep and learning/mental health disorders, which affect the majority over time, compounded by lack of rehabilitation. These data may help prioritisation and resource allocation to focus on the areas of need for these increasing cohorts of patients surviving previously life-limiting congenital and neoplastic disorders.
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