Sarah Pillar

Background: CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. Emerging disease-modifying trials necessitate the precise and granular measurement of communication to determine drug efficacy. This study evaluated a new measure of communication for CDD called the Communication Inventory Disability – Observer Reported (CID-OR). Methods: CID-OR was developed using a communication framework for CDD created from qualitative data and informed through evaluation of current measures and consultation with clinical experts. Scores for items describing communicative purpose were derived from ratings of consistency and the mode of delivery. An online survey was administered to parents of people with CDD ( n = 184) recruited from the International CDKL5 Clinical Research Network. Most caregivers (96%) completed the Communication and Symbolic Behavior Scales - Developmental Profile Infant Toddler Checklist (CSBS–DP ITC). A confirmatory factor analysis was conducted. Test-retest reliability and comparison of known groups were assessed using intraclass correlation coefficients and linear regression, respectively. Results: The median age of people with CDD was 9.8 (1–43) years. A single factor model was evaluated. For 34 items, item loadings were satisfactory. For the scale, internal consistency and goodness-of-fit statistics were satisfactory, except for the Root Mean Square Error of Approximation statistic. The distribution of CID-OR scores was less right skewed than for CSBS-DP ITC scores although there was a high correlation between CID-OR and CSBS scores ( r = 0.89). Test-retest reliability was high (ICC 0.966). Conclusion: Preliminary analysis suggests that CID-OR is a reliable and valid measure of communication in CDD. This new tool has strong potential to measure responsiveness to interventions in CDD and may extend to similar developmental and epileptic encephalopathy conditions.

Introduction: Preterm birth is associated with a 3.3-fold increased likelihood of autism diagnosis, with lower gestational age conferring higher likelihood. In Australia, autism is typically diagnosed at around age four, potentially missing the optimal neuroplasticity window before age two. The Social Attention and Communication Surveillance—Revised (SACS-R) tool identifies early autism signs in children aged 11–30 months, enabling pre-emptive intervention. Aims: This quality improvement (QI) study assessed the acceptability, and feasibility of SACS-R for early detection of autism traits in 12-month-old infants born very preterm/VP (gestation < 32 weeks), from both caregiver and clinician perspectives. Methods: From September 2024 to February 2025, 47 VP infants attending the 12-month Neonatal Follow-up Clinic (NNFU) at King Edward Memorial Hospital (KEMH), Western Australia, were assessed using SACS-R. Caregivers completed acceptability and feasibility questionnaires; clinicians completed similar surveys. Forty-seven infants met inclusion criteria; 12 clinicians provided responses. Results: Of 47 infants, 4 (8.5%) were identified as having a high likelihood of autism and referred for early intervention. Among caregivers, 29 (61%) provided complete acceptability responses and 28 (59%) feasibility responses, both predominantly positive. Clinicians reported high satisfaction (83%) and ease of use (91%), with 74% supporting routine implementation. Concerns included parental understanding and overlap with other assessments. Conclusions: Our QI study indicates that the SACS-R is highly acceptable and feasible in neonatal follow-up for preterm infants. Larger-scale evaluation of diagnostic accuracy and practical refinements based on feedback are warranted to support routine integration in early surveillance programs.

Autistic advocates emphasise the need for neurodiversity-affirming and strengths-based approaches to support services; however, little is known about broader community perspectives regarding the appropriateness of offering early support services to autistic children. This co-designed mixed-methods study employed surveys to gather insights from 253 participants in Australia and New Zealand, including autistic adults, parents, and professionals. Participants shared views on the appropriateness of early support services for autistic children. About half of participants indicated that it was appropriate to provide early support services, while the other half indicated that it depended on the nature of those support services. Reflexive thematic analysis resulted in three overarching themes which explain these views. ‘They are children first, after all’ emphasises the importance of preserving childhood experiences and involving children in decision-making. ‘We shouldn’t be aiming to fix the child’ underscores the need for support services to align with neurodiversity-affirming approaches. Finally, ‘Supports are beneficial’ highlights the perceived positive impact that early, individualised support services can provide for autistic children. These findings predominantly signal a shift away from medicalised models towards a neurodiversity-affirming approach across participant groups. Lay We do not know much about what support services people think are okay for young autistic children. This study was a survey of 253 people. We asked autistic adults, parents, and professionals from Australia and New Zealand whether they thought it was okay to provide support services to autistic children. About half the people who shared their thoughts said it was okay to provide support services to autistic children and the other half said it depended on what the support service was like. They had three main ideas about whether support services were okay or not. The first one is that we should remember that these autistic children are children first, so we need to keep their childhood experiences in mind and let them have a say in decisions. The second is that we should not try to ‘fix’ the child, but instead, use supports that respect and understand the unique ways the child thinks. The final idea is that early, personalised help is good for autistic children and can make a positive difference in their lives. This study suggests that we should focus on what each child needs, think about how children can join in, and provide help in ways that respect autistic children.

There has been considerable research into the barriers and facilitators of coaching parents of autistic children. However, little is known about parents’ preferences for this approach compared to support provided directly by a clinician to an autistic or potentially autistic child. This study aimed to examine parents’ relative preferences for parent coaching and direct clinician support. A total of 22 families who had received both approaches for their autistic child quantitatively indicated which they preferred. We then used semi-structured interviews with 11 of these participating parents to further investigate the reasons underlying these preferences. We used multiple methods to ensure trustworthiness and credibility. Four themes were identified through template analysis: (1) ‘I wouldn’t want one without the other’, (2) ‘It forced me outside my comfort zone’, (3) ‘It’s just about different types of learners’ and (4) ‘If our child is happy, then we are happy’. Overall, results indicated that parents appreciated characteristics of both approaches and felt that they complimented each other in helping themselves and their child. However, when forced to choose, parents generally expressed a preference for direct support. Many parents discussed their belief that their child experienced more enjoyment and progressed further through direct support. These findings emphasise the importance of honouring families’ preferences in the delivery of supports. Lay Professionals often support autistic children by working with them directly (direct support) or by coaching their parents. We know a lot about what parents think about parent coaching, but we do not know as much about what they think about direct support. We also do not know whether parents prefer parent coaching or direct support. The current study involved 22 parents who each received 2 h a week of direct support for their autistic child and up to 1 h a week of parent coaching for 6 months. At the end of 6 months, all these parents indicated in a survey whether they preferred parent coaching or direct support. Eleven of these participating parents also chose to take part in an interview to understand more about these preferences. Our findings suggest that parents generally liked both supports and believed they worked well together; however, they preferred direct support over parent coaching. While parents think that both approaches are beneficial, there are strengths and challenges of each. These findings emphasise the importance of parent choice in the delivery of support. It may also be possible to adapt both approaches to address some of the identified challenges and improve the whole family’s experience.

Objectives: Clinical decision support systems (CDSS) are increasingly utilised within healthcare settings to enhance decision making. However, few studies have investigated their application in the context of clinical services for autistic people, with no research to date exploring the perspectives of the key stakeholders who are, or in the future may be, impacted by their use. Given the importance of stakeholder perspectives in ensuring that CDSSs are relevant, feasible, and acceptable to those who use them, the aim of this study was to examine the views of key stakeholders in relation to support preferences and a proposed CDSS intended to aide in the selection of the most appropriate supports for autistic children. Method: Using a co-designed, mixed-methods approach, 20 participants comprising autistic adults, parents of autistic children, and practitioners providing services to autistic children were invited to participate in focus groups, or an open-ended online survey, to explore views regarding support provision and any opportunities, barriers, recommendations, and support for the use of CDSSs in clinical practice. Results: Participants highlighted potential benefits of using a CDSS in clinical practice, such as creating efficiencies and consistency in decision making when selecting therapies and supports, provided it was part of a holistic approach to working with autistic children. Potential barriers largely centred on concerns about the safety of data to be utilised within the system. Conclusions: The findings indicate that CDSS have the potential to play a valuable role in selecting supports for autistic children, providing appropriate safeguarding occurs.

Purpose: Professional supports play an important role in aiding autistic children’s learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders’ perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals. This study investigated stakeholder views on the priority and appropriateness of outcomes intentionally targeted during the provision of supports to autistic children. Method: A survey of 181 participants (including 72 autistic adults, 85 parents, and 69 professionals) from Australia and New Zealand was conducted. Participants rated the appropriateness and priority of 47 potential child and parent outcomes within the context of support. Results: The highest priority outcome was improving child mental wellbeing, with the lowest being reducing sensory seeking or avoidant behaviours. Priority ratings for certain outcomes differed based on the child’s age. Over half of the participants rated reducing sensory seeking/avoidant behaviours and reducing focused interests as inappropriate outcomes of supports. Further, variations in the appropriateness of outcomes differed among participant groups. Conclusion: Reflecting the growing acceptance of neurodiversity-affirming practices, these results underscore support for targeting outcomes that are meaningful to the autistic and autism communities, with less emphasis on those which reflect neurotypical behavioural standards.

Autism spectrum disorder (ASD; autism) is the term for a neurodevelopmental disability characterized by qualitative and lifelong challenges in social interaction and communication as well as the presence of repetitive and sensory behaviors and interests.¹ Autistic individuals can face barriers to their social and economic participation and well-being.² Impacts vary but can include effects on educational and vocational attainment, mental health, and family functioning.^3,4

Natural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video—of child language, parent linguistic input, and dyadic balance of communicative interaction—against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures. Associations across concurrent measures of analogous constructs suggested strong validity of NLS applied to 6-min video clips. NLS offers benefits of feasibility and adaptability for validly quantifying emerging skills, and potential for standardisation for clinical use and rigorous research design.

While theory supports bidirectional effects between caregiver sensitivity and language use, and infant language acquisition—both caregiver‐to‐infant and also infant‐to‐caregiver effects—empirical research has chiefly explored the former unidirectional path. In the context of infants showing early signs of autism, we investigated prospective bidirectional associations with 6‐min free‐play interaction samples collected for 103 caregivers and their infants (mean age 12‐months; and followed up 6‐months later). We anticipated that measures of caregiver sensitivity/language input and infant language would show within‐domain temporal stability/continuity, but also that there would be predictive associations from earlier caregiver input to subsequent child language, and vice versa. Caregiver sensitive responsiveness (from the Manchester Assessment of Caregiver–Infant interaction [MACI]) predicted subsequent infant word tokens (i.e., amount of language, coded following the Systematic Analysis of Language Transcripts [SALT]). Further, earlier infant Mean Length of Utterance (MLU; reflecting language complexity, also derived from SALT coding) predicted later caregiver MLU, even when controlling for variability in infant ages and clear within‐domain temporal stability/continuity in key measures (i.e., caregiver sensitive responsiveness and infant word tokens; and infant and caregiver MLU). These data add empirical support to theorization on how caregiver input can be both supportive of, and potentially influenced by, infant capacities, when infants have social‐communication differences and/or communication/language delays suggestive of possible emerging autism.