Septo-optic dysplasia: clinical phenotype and impact on the child and family

David Cullingford; Mary Abraham; Aris Siafarikas; Marie Blackmore; Jenny Downs; Catherine Choong

doi:10.1530/endoabs.110.P943

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Endocrine Abstracts (2025) 110 P943 | DOI: 10.1530/endoabs.110.P943

ECEESPE2025 Poster Presentations Pituitary, Neuroendocrinology and Puberty (162 abstracts)

Septo-optic dysplasia: clinical phenotype and impact on the child and family

David Cullingford ^1,2,3 , Mary Abraham ^1,2,3 , Aris Siafarikas ^1,2,3 , Marie Blackmore ² , Jenny Downs ^2,4 & Catherine Choong ^1,2,3

Author affiliations

¹Perth Children’s Hospital, Endocrinology and Diabetes, Perth, Australia; ²The Kids Research Institute Australia, The Centre for Child Health Research, Perth, Australia; ³University of Western Australia, Perth, Australia; ⁴Curtin University, Perth, Australia

JOINT1545

Objectives: To describe the clinical phenotype and impacts on child quality of life (QOL) and family function in children with septo-optic dysplasia (SOD).

Methods: Children with SOD, aged 0-17 years, who attended a single tertiary centre and their parents/carers, participated. A combination of parental surveys describing antenatal history, child medical history, health system utilisation, and validated questionnaires to assess impact on the child and family—KIDSCREEN-27, McMaster family assessment device (FAD), Fatigue Severity Score (FSS) and PedsEyeQ—were completed, with child responses to the KIDSCREEN-27 and PedsEyeQ where appropriate. Comparison for maternal findings was with data from the Western Australian (WA) Midwives Notification System (MNS), and for validated questionnaires with other studies.

Results: Consent was received for 47 children, and 45 surveys (16 females, mean age 10.3 years) were available for analysis. Approximately half (24/45) had pituitary dysfunction or developmental delay (22/45) and 14/45 had neither. Speech and language, social/emotional delay, learning delay and intellectual disability were seen more frequently in those with hypopituitarism than those without (P < 0.05). Feeding difficulties were reported in 8/25 term neonates, 5 requiring nasogastric feeding. Mean maternal BMI was lower than the WA population (23.2 vs 26.3, P = 0.005). 51.8% of mothers had less antenatal weight gain than recommended, more than double the general population (21.2%, P < 0.001). Children saw a mean of 3.4 medical specialties and 2.0 allied health disciplines, with 31/37 travelling at least 20km to attend. KIDSCREEN-27, McMasters FAD and FSS scores were similar to comparison groups in other studies while PedsEyeQ functional vision quality of life scores were lower.

Comparisons of cohort maternal features to the general population.
	SOD	Comparison	P-value	Reference
Mean BMI	23.2 ± 3.9 (n = 26)	26.3 ± 5.7 (n = 392,306)	0.005	MNS
Low or normal BMI	20/26 (76.9%)	191,568/392,306 (48.8%)	0.004	MNS
Inadequate pregnancy weight gain	14/27 (51.8%)	141/664 (21.2%)	<0.001	Queensland 2011
MNS data from 2006-2023.

Conclusion: SOD is a heterogenous condition, and mothers may have suboptimal antenatal weight gain and lower maternal BMI compared to the general population. Neonatal feeding difficulties were common, with nasogastric feeding often required. As expected, vision related QOL was reduced in individuals with SOD. Despite the complexity of symptoms, this study did not discern a difference in health-related quality of life scores using KIDSCREEN compared with general population norms. Additional studies assessing maternal weight status, neonatal feeding challenges and quality of life are required to further delineate their involvement in SOD.