Jenny Fairthorne

Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases. Reviewers independently screened relevant studies according to the Preferred Reporting Items for Systematic reviews . The number and percentages of definition use, their primary features, and measures were reported. Of 19,099 potential publications, 157 were included. Thematic analysis identified four condition groups: Neurodevelopmental disorders ( n = 118); Progressive neurodegenerative conditions ( n = 17); Developmental epileptic encephalopathies ( n = 8); and Genetic conditions ( n = 14). Most studies ( n = 124, 79.0%) used an operational definition, and most specified types of skills lost ( n = 147, 93.6%). Age of onset was specified in 67.5% ( n = 106), and duration was specified in 34.4% ( n = 54). Measures designed to specifically assess developmental regression were infrequently used ( n = 5, 3.2%). We concluded that developmental regression is inconsistently defined and measured. A consistent approach is vital to ensure that all children are identified as early as possible. This will allow timely diagnostic discovery, enhance research rigor, and promote the collaboration that is needed to advance our understanding of causal mechanisms and effective interventions for affected children and their families.

Autism spectrum disorder (autism) is diagnosed by persistent deficits in communication and social interaction, along with restricted, repetitive behaviors or interests. About a third of children with autism appear to develop normally but subsequently regress and eventually present with autism. This condition is termed regressive autism and the associated regression termed autistic regression . Children undergoing autistic regression after 2 years are described as having childhood disintegrative disorder . We aimed to conduct a scoping review to identify and summarize the genetic etiologies and correlates of regressive autism and childhood disintegrative disorder. Using key words, we searched 4 databases for papers published from January 2010 to February 2024. Thirty-two papers were retained. Nearly 90 genetic variants were associated with these conditions, and some treatments improved proband functioning. Epigenetic involvement, immune dysfunction and toxicant exposures were related to autistic regression while recurring comorbidities were inflammatory bowel disease, fever and mitochondrial disease. Regressive autism is variably defined, impeding research. The development of a precise definition is needed. Furthermore, regressive autism and its subtype, childhood disintegrative disorder, have many causes, which means that developing biomarkers and endotypes to explore etiologies would likely pay dividends. Because of the increasing prevalence of autism, regressive autism is no longer a rare condition, emphasizing the grave need to promote research in this area. Expected benefits might be improved outcomes for those affected and genetic counselling for at-risk family members. Longer-term benefits might be reduced prevalence, less emotional and financial burdens for families, and lower fiscal burdens for governments.

Teenage mothers are more likely to be of low Socio-Economic Status (SES) but it is not known whether the risk abates abruptly in teenagers of middle SES or gradually over the range of SES.

IntroductionSocio-economic status (SES) is an important determinant of health and low SES is associated with higher rates of prenatal and post-partum depression while prenatal and post-partum depression are associated with sub-optimal maternal and infant health. Furthermore, increased negative effects of post-partum depression have been reported in children from low SES backgrounds. ObjectivesTo assess whether socio-economic status (SES) was related to the risk of a medical or psychiatric hospitalization associated with depression (HAWD) and the risk of a HAWD by anti-depressant (AD) use during the years around a birth MethodsThis retrospective cohort study used linked birth, hospitalization, prescription and tax-file records of the study cohort. We linked registry data of 243,933 women delivering 348,273 live infants in British Columbia (1999-2009). The outcomes of interest were a HAWD and a HAWD and the associated patient anti-depressant (AD) use. Ranked area-based measures of equivalised, family disposable income were used to create income deciles (Decile-1 low), our proxy for SES. Mothers from Decile-6 were the comparator group. Anti-depressant use was defined as having a prenatal prescription for a serotonin reuptake inhibitor or other AD and the years around a birth were the period beginning 12 months before conception and ending 12 months after the birth. We analysed by pregnancy using mixed effects logistic regression whilst adjusting for maternal age and parity. ResultsCompared to middle-income mothers from Decile-6, (Decile-1, Decile-2) mothers from low income neighbourhoods had increased odds of HAWDs [aOR=1.77(CI: 1.43, 2.19); aOR=1.56(CI: 1.26, 1.94)]. Mothers from low income areas with depression and no AD use had even higher odds of HAWDs [aOR=1.83(CI: 1.33, 2.20); aOR=1.71(CI: 1.33, 2.20)]. ConclusionsResults provide preliminary evidence that barriers to treating depression with ADs in mothers from low income areas during the years around a birth might contribute to their increased risk of a hospitalization associated with non-pharmacologically treated depression. Further research is implicated to further elucidate the origins of this increased risk. KeywordsMothers; Socio-economic status; Antidepressive agents; Pregnancy; Post-partum period; Parturition; Prescriptions; Hospitalization. Disclaimer All inferences, opinions, and conclusions drawn in this manuscript are those of the authors and do not reflect the opinions or policies of the Data Stewards of Population Data BC.

Maternal loss can have a deep-rooted impact on families. Whilst a disproportionate number of Aboriginal women die from potentially preventable causes, no research has investigated mortality in Aboriginal mothers. We aimed to examine the elevated mortality risk in Aboriginal mothers with a focus on external cause. Methods We linked data from four state administrative datasets to identify all women who had a child from 1983-2010 in Western Australia and ascertained their Aboriginality, socio-demographic details, and dates and causes of death of all mothers who had died prior to 2011. For Aboriginal mothers and compared to other mothers, we calculated the hazard ratios (HRs) for death by any external cause and each of the sub-categories of accident, suicide and homicide and the corresponding age of their youngest child. Results and discussion Compared to non-Aboriginal mothers and after adjustment, Aboriginal mothers were more likely to die from external cause [HR=4.61(95% CI: 3.7, 5.7)], accident [HR=4.74(95% CI: 3.2, 7.0)], suicide [HR=2.48(95% CI: 1.5, 4.0)] or homicide [HR=11.72(95% CI: 6.5, 21.0)]. For mothers experiencing death, the median age of the youngest child was 4.8 years. Aboriginal mothers are much more likely to die from external causes than non-Aboriginal mothers with the scale of difference ranging from 2.5 times for suicide, to more than eleven times for homicide. Comparisons with the extant literature suggest that the magnitude of ethnic disparities in mortality from external causes is greater among mothers than the female population overall, identifying Aboriginal mothers as a particularly at-risk group in both relative and absolute terms. Conclusion During the study period, Aboriginal mothers were more likely to die than other mothers and they usually left young children. Our increased adjusted HRs were only partly explained by socio-demographic circumstances. Further research is required to fully examine the risk factors associated with these potentially preventable deaths and to enable the development of informed health promotion to increase the life chances of Aboriginal mothers and their children.

Background Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) are neurodevelopmental disorders with a strong genetic component. Increasing research attention has focused on whether the genetic factors that convey susceptibility for these conditions, also influence the risk for other health conditions, such as cancer. AimsWe compared hospital admissions and treatment/services for cancer in mothers of ASD probands to other mothers. MethodsUsing West Australian databases, we calculated the hazard ratios (HRs) of hospitalisations for cancer in case and comparator mothers.Results In the multivariate model and compared to mothers of children with no ASD or ID, mothers of children with ASD without ID were more likely to have had an admission associated with a cancer diagnosis [HR=1.33(95% CI: 1.1, 1.7)] or a treatment or service associated with cancer [HR=1.54(95% CI: 1.1, 2.2)]. Furthermore, these HRs were significantly greater (p-values < 0.00005) than the corresponding HRs for mothers of children with ASD with ID [HR=1.05(95% CI: 0.8, 1.3) and HR= 0.97(95% CI: 0.7, 1.4)]. Conclusions We suggest that genes increasing the risk of autism without ID and cancer have common pathways and that the genetic basis of ASD with ID differs from ASD without ID.

The risk of autism spectrum disorder varies by maternal race–ethnicity, immigration status, and birth region. In this retrospective cohort study, Western Australian state registries and a study population of 134 204 mothers enabled us to examine the odds of autism spectrum disorder with intellectual disability in children born from 1994 to 2005 by the aforementioned characteristics. We adjusted for maternal age, parity, socioeconomic status, and birth year. Indigenous women were 50% less likely to have a child with autism spectrum disorder with intellectual disability than Caucasian, nonimmigrant women. Overall, immigrant women were 40% less likely to have a child with autism spectrum disorder with intellectual disability than nonimmigrant women. However, Black women from East Africa had more than 3.5 times the odds of autism spectrum disorder with intellectual disability in their children than Caucasian nonimmigrant women. Research is implicated on risk and protective factors for autism spectrum disorder with intellectual disability in the children of immigrant women.

Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental disorders with strong genetic components. Increasingly, research attention has focused on whether genetic factors conveying susceptibility for these conditions, also influence the risk of other health conditions, such as cancer. We examined the occurrence of hospital admissions and treatment/services for cancer in mothers of children with ASD with or without ID compared with other mothers. After linking Western Australian administrative health databases, we used Cox regression to estimate the hazard ratios (HRs) of any hospitalisations and treatment/services for cancer in these groups of mothers. Mothers of children with ASD without ID had greater risk of admissions for cancer (HR 1.29 [95 % CI 1.1, 1.7]), and for treatment/services in particular (HR 1.41 [95 % CI 1.0, 2.0]), than mothers of children with no ASD/ID, while mothers of children with ASD with ID were no more likely to have a cancer-related hospital admission than other mothers. Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways.

Maternal loss can have a deep-rooted impact on families. Whilst a disproportionate number of Aboriginal women die from potentially preventable causes, no research has investigated mortality in Aboriginal mothers. We aimed to examine the elevated mortality risk in Aboriginal mothers with a focus on external causes. We linked data from four state administrative datasets to identify all women who had a child from 1983 to 2010 in Western Australia and ascertained their Aboriginality, socio-demographic details, and their dates and causes of death prior to 2011. Comparing Aboriginal mothers with other mothers, we estimated the hazard ratios (HRs) for death by any external cause and each of the sub-categories of accident, suicide, and homicide, and the corresponding age of their youngest child. Compared to non-Aboriginal mothers and after adjustment for parity, socio-economic status and remoteness, Aboriginal mothers were more likely to die from accidents [HR = 6.43 (95 % CI: 4.9, 8.4)], suicide [HR = 3.46 (95 % CI: 2.2, 5.4)], homicide [HR = 17.46 (95 % CI: 10.4, 29.2)] or any external cause [HR = 6.61 (95 % CI: 5.4, 8.1)]. For mothers experiencing death, the median age of their youngest child was 4.8 years. During the study period, Aboriginal mothers were much more likely to die than other mothers and they usually left more and younger children. These increased rates were only partly explained by socio-demographic circumstances. Further research is required to examine the risk factors associated with these potentially preventable deaths and to enable the development of informed health promotion to increase the life chances of Aboriginal mothers and their children.

Compared to other mothers, mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have higher rates of treatment episodes for psychiatric disorders. We aimed to estimate the maternal burden of care by comparing the length of hospitalisations for psychiatric disorders and the treatment rates for psychiatric disorders after the birth in mothers of children with ASD/ID and no psychiatric history to that of other mothers with no psychiatric history. Mothers of children with ID of known cause (not Down syndrome) and mothers of children ASD without ID emerged as particularly vulnerable. Mothers of children with Down syndrome were resilient. The development of specialised organisations to provide support to mothers of children with ID of known cause (not Down syndrome) and mothers of children with ASD without ID could assist them to maintain their mental health.