Pasca Ludovica, Morelli Federica, Catalano Guido, Quaranta Carlo Alberto, Vitali Helene, Ballante Elena, Dattrino Francesca, Crema Francesca, Rota Paola, Varesio Costanza, De Giorgis Valentina, Romaniello Romina, Signorini Sabrina, Franco Valentina
IRCCS Mondino Foundation, Pavia, Italy.
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
BMJ Open. 2025 Jan 15;15(1):e090675. doi: 10.1136/bmjopen-2024-090675.
Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm. Both anomalies in midline brain structures and decreased visual input could potentially impact melatonin secretion, although a distinct melatonin profile for SOD patients has yet to be identified. Furthermore, the specific contribution of these factors to sleep disturbances in SOD remains unexplored. The aim of this study is to evaluate the quality of sleep and its characteristics, along with the melatonin profile, among paediatric patients diagnosed with SOD. A comparison will be made between these findings and those of children with isolated bilateral visual impairment, as well as patients with agenesis of the corpus callosum.
Participants aged between 3 and 18 years previously diagnosed with SOD will be recruited prospectively. Each participant will be assessed at baseline and at each follow-up visit scheduled to evaluate the clinical course. Sleep quality and daytime sleepiness changes will be tracked using actigraphic assessment, standardised sleep questionnaires and a sleep EEG. Additionally, plasma and salivary melatonin profiles will be assessed for each participant.
This study has been approved by local Ethics Committee (N°0049187/23). The study findings will be shared through publication in an international peer-reviewed journal and presented at both national and international conferences.
NCT06262152.
患有视隔-垂体发育不良（SOD）的儿童除了发育迟缓/智力残疾外，还可能出现一系列视觉障碍和激素功能障碍。文献描述了睡眠片段化、昼夜节律紊乱和睡眠效率降低。这些表现被认为与SOD相关的结构和功能异常密切相关，可能会扰乱自然的昼夜节律。中线脑结构异常和视觉输入减少都可能影响褪黑素分泌，尽管尚未确定SOD患者独特的褪黑素特征。此外，这些因素对SOD睡眠障碍的具体贡献仍未得到探索。本研究的目的是评估诊断为SOD的儿科患者的睡眠质量及其特征，以及褪黑素特征。将这些结果与孤立性双侧视力障碍儿童以及胼胝体发育不全患者的结果进行比较。
前瞻性招募先前诊断为SOD的3至18岁参与者。每位参与者将在基线以及计划评估临床病程的每次随访时进行评估。使用活动记录仪评估、标准化睡眠问卷和睡眠脑电图来跟踪睡眠质量和白天嗜睡情况的变化。此外，还将评估每位参与者的血浆和唾液褪黑素特征。
本研究已获得当地伦理委员会批准（编号0049187/23）。研究结果将通过在国际同行评审期刊上发表以及在国内和国际会议上展示来分享。
NCT06262152。
