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Aim: To investigate developmental trajectories in early childhood and predictors of class assignment. Methods: Data were available for Gen2 infants at 12 (n = 2275), 24 (n = 1845) and 36 (n = 2110) months of age in the Raine Study. Latent growth class analysis was used to identify developmental trajectories based on the Ages and Stages Questionnaire. Multivariate logistic regression analyses were used to estimate associations between foetal growth restriction, gestational age, child biological sex, breast feeding, parental age, socioeconomic factors and developmental trajectories. Results: Two groups of infants were identified, one typically performing and one poorer performing. Being born early-term, pre-term and male were associated with poorer development. Not exposed to breastfeeding was associated with the lower trajectories in the adaptive and personal-social domains. Conclusions: Developmental surveillance and advice for early-term infants should be considered. Findings highlight the continued need to support and promote breastfeeding as a protective mechanism for child development.

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments.

Introduction: Estimates of the prevalence of intellectual disability or autism spectrum disorder (ASD) may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme (NDIS) in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. Methods: Its recent inclusion as a source of ascertainment in the populationbased Intellectual Disability Exploring Answers (IDEA) database in Western Australia has allowed comparisons of the prevalence of intellectual disability and ASD before and after its introduction. Results: Prevalence of intellectual disability in 2020 was 22.5 per 1,000 (/1,000) live births compared with previous estimates in 2010 of 17/1,000, and for ASD, the estimate was 20.7/1,000 in 2020 compared with 5.1/1,000 in 2010. Whilst the prevalence of ASD in Aboriginal individuals was about two-thirds that of non-Aboriginals, there was an increased prevalence of ASD in Aboriginal children under 10 years compared with non-Aboriginal children. Discussion: The concurrent relaxation of ASD diagnostic practice standards in Western Australia associated with the administration of access to the NDIS and the release of the National Guidelines empowering single diagnosticians to determine the appropriateness of engaging additional diagnosticians to form a multidisciplinary team on ASD diagnosis, appear to be important factors associated with the increase in ASD diagnoses both with and without intellectual disability. [ABSTRACT FROM AUTHOR]

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations.

Aim: To compare growth in individuals with cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. Method: The longitudinal study included 353 individuals from the International CDKL5 Disorder Database with any anthropometric measurement in baseline and/or follow‐up questionnaires. The British 1990 growth reference was used to determine the age‐ and sex‐standardized z‐score. Repeated cross‐sectional data were fitted using a Gaussian linear regression model with generalized estimating equations. Results: All growth parameters were below the general population norm (mean z‐scores: weight −0.97, height −0.65, body mass index [BMI] −0.81, head circumference −2.12). The disparity was particularly pronounced for all anthropometric measurements after 4 years of age except for BMI. Moreover, individuals with gastrostomy placement were shown to have a larger decrease than those without. Interpretation: In addition to weight, height, and BMI, head circumference was also compromised in this disorder. Microcephaly could be considered a helpful diagnostic feature, especially in adults. Any benefit of gastrostomy on weight and BMI was mainly seen in the early years. [ABSTRACT FROM AUTHOR]

Siblings of children with intellectual disability have unique family experiences, varying by type of disability. Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability of parental time. Qualitative responses were analysed using thematic analysis. Positive personality traits, an optimistic outlook, enhanced skills, and rich relationships were strong and consistent parental perceptions for siblings in both disability groups. Parents of children with Rett syndrome were more likely to rank themselves lower on time availability, and to report sibling difficulties with social engagement and family holidays. Parental responses appeared to be influenced by disability type, and reflective of child capabilities. Perceptions of sibling experience should be supplemented by data collected directly from siblings to fully understand their unique perspective, and the ways in which their experiences could be enhanced. [ABSTRACT FROM AUTHOR]

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments., Author(s): Ifrah Abdullahi [sup.1] [sup.2] , Kingsley Wong [sup.1] , Keely Bebbington [sup.1] , Raewyn Mutch [sup.1] [sup.2] [sup.3] , Nicholas de Klerk [sup.1] , Sarah Cherian [sup.2] [sup.3] , [...]

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations., Author(s): Yuka Mori [sup.1] [sup.2] , Jenny Downs [sup.1] [sup.2] [sup.3] , Kingsley Wong [sup.1] [sup.2] , Jane Heyworth [sup.4] , Helen Leonard [sup.1] [sup.2] Author Affiliations: (Aff1) 0000 0000 [...]

Background Aboriginal and Torres Strait Islander (hereafter Aboriginal) women have a high prevalence of diabetes in pregnancy (DIP), which includes pre-gestational diabetes mellitus (PGDM) and gestational diabetes mellitus (GDM). We aimed to characterize the impact of DIP in babies born to Aboriginal mothers. Methods A retrospective cohort study, using routinely collected linked health data that included all singleton births (N  = 510 761) in Western Australia between 1998 and 2015. Stratified by Aboriginal status, generalized linear mixed models quantified the impact of DIP on neonatal outcomes, estimating relative risks (RRs) with 95% CIs. Ratio of RRs (RRRs) examined whether RRs differed between Aboriginal and non-Aboriginal populations. Results Exposure to DIP increased the risk of adverse outcomes to a greater extent in Aboriginal babies. PGDM heightened the risk of large for gestational age (LGA) (RR: 4.10, 95% CI: 3.56–4.72; RRR: 1.25, 95% CI: 1.09–1.43), macrosomia (RR: 2.03, 95% CI: 1.67–2.48; RRR: 1.39, 95% CI: 1.14–1.69), shoulder dystocia (RR: 4.51, 95% CI: 3.14–6.49; RRR: 2.19, 95% CI: 1.44–3.33) and major congenital anomalies (RR: 2.14, 95% CI: 1.68–2.74; RRR: 1.62, 95% CI: 1.24–2.10). GDM increased the risk of LGA (RR: 2.63, 95% CI: 2.36–2.94; RRR: 2.00, 95% CI: 1.80–2.22), macrosomia (RR: 1.95, 95% CI: 1.72–2.21; RRR: 2.27, 95% CI: 2.01–2.56) and shoulder dystocia (RR: 2.78, 95% CI: 2.12–3.63; RRR: 2.11, 95% CI: 1.61–2.77). Birthweight mediated about half of the DIP effect on shoulder dystocia only in the Aboriginal babies. Conclusions DIP differentially increased the risks of fetal overgrowth, shoulder dystocia and congenital anomalies in Aboriginal babies. Improving care for Aboriginal women with diabetes and further research on preventing shoulder dystocia among these women can reduce the disparities. [ABSTRACT FROM AUTHOR]