Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Abstract

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia (ONH), midline brain defects and pituitary hormone deficiency [1]. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable [2]. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Parents of children with ONH (some who had SOD) have reported concerns at diagnosis, such as being given only the name of the condition and needing to seek further information by themselves, and that information being difficult to obtain [3]. These findings mirror concerns raised by families in our clinic population, which led to this study.

The aim of the present study was to investigate parent perceptions of their experiences during their child's SOD diagnosis, with particular focus on the adequacy of information provided.

Data about diagnostic experiences were collected from parents and carers of children with SOD using a survey administered in REDCap, as part of a larger cross-sectional observational study. Parents/carers were asked to indicate their level of agreement to six statements about the diagnostic process and respond to open-ended questions. A consumer reference group of parents assisted the clinical team in writing the survey.

Parents/carers were eligible for inclusion in the study if their child had a diagnosis of SOD, as evidenced by at least two of the following: (a) ONH, (b) hypopituitarism and (c) septum pellucidum/corpus callosum agenesis (partial or complete). The child also had to be aged 0 to 18 years inclusive at the time of data collection (April–August 2024) and have received treatment at Perth Children's Hospital (PCH), Western Australia. Participants were identified through PCH outpatient clinics, MRI records from the Department of Medical Imaging at PCH, and the Western Australian Register of Developmental Anomalies (WARDA) database [4].

Parent/carers of 35 affected children participated (29 mothers; three fathers; two foster mothers, and one grandparent) of 66 approached. Mean maternal age at birth (available for n = 34) was 27.3 (standard deviation ± 6.5, range: 17.5–45.3) years. The mean child's current age was 10.4 (range 3.1–18.3) years, and 12 were female. Age of diagnosis (available for n = 31) was newborn (n = 14), under 12 months (n = 6), 1–2 years (n = 6), and 3–5 years (n = 5). Eleven had hypopituitarism and 21 had bilateral ONH. Thirteen parents/carers had a tertiary qualification, 20 had completed secondary education, and two had not completed secondary education.

Figure 1 shows that responses to the six statements varied widely from strongly agree to strongly disagree. Half of participants (49%) agreed that the diagnosis was explained in a comprehensible way by their clinician, that they had opportunities to ask questions, and that they felt well supported by the medical team. Approximately one third agreed that all their concerns were addressed (37%) and that they were given as much information as they needed (31%). Two thirds (69%) reported that they had to find out information for themselves.

When asked “What written information sources or help groups have you found helpful?” participants nominated VisAbility WA (a local service provider for children and adults with vision impairment), Google, parent online groups, and scholarly literature, but other participants said they couldn't find information or support groups.

When asked “What aspects of the diagnosis process were well done?” participants referred to the thoroughness of investigations, antenatal detection, the explanation of SOD and support and understanding from staff (nurses, endocrinologist, paediatrician). Other participants recalled diagnosis as a painful experience and mentioned nothing positive: “It's very hard to think of something [that was well done] as it felt very traumatic at the time.”

When asked “What aspects of the diagnosis process were not well done?” participants mentioned having insufficient information about the condition (“Access to information about the diagnosis & its impacts.”; “I had to do a lot of research myself.”); late diagnosis (“I wasn't told of the diagnosis until 2 weeks post birth [although it was picked up on a brain scan at birth]”; “My child was not diagnosed until after 5 years but continually ended up in hospital in adrenal crisis.”); and a perceived lack of compassion from some staff “At the time I had no idea what was involved and I felt like I wasn't spoken to with compassion. I was only 18 at the time and it was all very overwhelming. We were given very glum outlooks on everything and it felt like my son's life was narrowed down to being very limited.” The initial realisation of the diagnosis was a crucial moment, and most parents preferred to be told as early as possible by a specialist, who would take the time to explain the diagnosis clearly: “The junior doctor on duty wasn't very knowledgeable or empathetic when trying to explain the diagnosis. Once we spoke to [child]'s specialist it was a lot clearer.”

These experiences are in accord with qualitative interviews of parents of children with ONH from the United States [3], who sought additional information and support soon after diagnosis. One parent from this study reported, “it just felt like we were very much alone, and I didn't realise that there were other families out there.” [3] Several parents of children with ONH commented on the sparsity of information about ONH and others didn't have the “courage” to talk about it or seek information themselves [3].

Although a small cohort, with less prevalent hypopituitarism (11/35) than is typically reported, the response rate was comparable with other studies and results are similar to another cohort with ONH [3]. A follow-up study comprising either qualitative interviews or focus groups with this population would provide a more detailed picture of the diagnostic experience. These results show that the diagnosis of SOD is a distressing process for parents. Many parents recall feeling traumatised and not sufficiently well-informed. Parents of children with SOD in this study indicated that they wanted (a) a diagnosis and accurate information about their child's condition as early as possible and from a specialist doctor who is knowledgeable about the condition; (b) a contact person whom they can call to ask questions or request assistance; (c) good information sources about SOD for parents and families; and (d) compassion from everyone involved in the diagnostic process. These results have implications for clinical practice and for the development of information resources for the families of children with SOD.

Ethics approval was obtained from the WA Department of Health and Child and Adolescent Human Research Ethics Committee (RGS6516).

Informed consent was obtained from parents or legal guardians of children as part of recruitment. When parents deemed their child could understand the requirements and implications of enrolment, children were asked to co-sign.

The authors declare no conflicts of interest.