Jenny Fairthorne

Pre-Existing Differences in Mothers of Children with Autism Spectrum Disorder and/or Intellectual Disability: A Review

The autism spectrum disorders (ASD) represent a group of severe and chronic neuro-devel‐ opmental disorders often simply referred to as autism. [1] Using the criteria provided by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, ASD are diagnosed by impairments within the three strands of DSM-4: social interaction, communication and repetitive behaviours or interests. [2] The aetiology of autism is complex. [3] Research has implicated a strong genetic basis [4-7] involving multiple genes [5, 7, 8] and possible gene-environment interactions. [9-13] Advances in chromosomal microarray analysis and gene sequencing technologies have improved diagnoses and suggest that aetiologies of ASD will continue to be uncovered. [9] In addition, a child presenting with autistic symptoms may be found to have a certain genetic mutation which accounts for their true underlying biological diagnosis. For example, a diagnosis of Rett syndrome would be confirmed when a girl with ASD and intellectual disability was found to have a mutation of the MECP2 gene on the X-chromosome. [14] Children with ASD and intellectual disability have been found to have an expansion of the FMR1 gene confirming a diagnosis of Fragile X syndrome. [15]

Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

In order to identify factors affecting the quality of life of mothers of children with both autism and intellectual disability, the first author interviewed sixteen mothers of affected 11-24 year olds and transcribed audio recordings of the interviews. The first two authors analysed the resulting texts using a hermeneutical phenomenological approach. Mothers described living with their childs challenging behaviors, adapting to the increased demands and resultant isolation as lowering their quality of life. They described how surviving had strong negative impacts on their health and relationships. A majority of mothers described rewards associated with their children. Quality of life is a concept describing overall well-being and results from a complex interaction of health, independence, relationships, goals and standards in the context of a persons environment . Autism represents a group of severe, chronic, lifelong, neurodevelopmental disorders which are diagnosed by impairments in the areas of social interaction, communication, and repetitive behaviors or interests . Intellectual disability is characterized by an intelligence quotient of less than 70 and limitations in adaptive skill which are manifest before 18 years . About 70% of persons with autism also have_intellectual disability . Since the 1980s, the prevalence of autism diagnosis has been increasing both internationally (Centers for Disease Control and Prevention, 2012) and in Australia . Parents of children with autism have been reported to have poorer physical and mental health and quality of life than other parents. Furthermore, mothers of children with autism have been shown to have more compromised health than fathers , mothers of healthy children and the mothers of children with other developmental disabilities . Reasons for the impaired quality of life of mothers of children with autism are likely to be complex. Some have postulated_a genetic basis for the increased prevalence of mental disorders . However, there are many external factors why mothers might have a lower quality of life. Children with autism have more challenging behaviors than healthy children and_challenging behaviors_are associated with lower maternal quality of life . * Acknowledgments: We gratefully thank the Autism Association of Western Australia and the mothers who participated in this

Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Abstract Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population. In Western Australia, systematic record linkages between multiple datasets including births, deaths, and hospital morbidity have occurred since 1997. Linkage to other population datasets related to intellectual disability and autism provides an infrastructure to undertake research in this area. The purpose of this chapter is to use the Western Australian experience to describe the potential of data linkage to improve the understanding of the epidemiology of intellectual disability and autism. Information is provided on the core datasets and specific disability registers available in Western Australia. Some recently developed novel initiatives are also described. One of these involves the linkage of data from a number of other Western Australian jurisdictions such as education, child protection, and justice in addition to health. The other uses a federated approach, developed by the bioinformatics team at the Telethon Institute for Child Health Research, to enable analysis of autism risk factors from international population-based datasets without the data leaving its home base. Examples of published research examining both determinants and outcomes of intellectual disability and autism are reported as well as information on several studies, which are in the planning stages. We also include a section on some of the challenges of data management and describe some of the statistical techniques that have been used. Studies investigating sociodemographic factors, prenatal growth, alcohol exposure, and maternal physical health have identified risk factors associated with intellectual disability and autism. Analyses of outcomes for these children have shown an increased risk of hospitalizations from two to ten times that of the rest of the population. For those with Down syndrome, a quarter of their admissions occurred in the first year of life, with upper respiratory tract infections being the most common cause. Non-Aboriginal children with intellectual disability were shown to have a threefold risk of substantiated child maltreatment and Aboriginal children a twofold risk, after taking parental factors into account. Linked data studies using population data on intellectual disability and autism can help understand the complex multidimensional factors contributing to different outcomes for this particularly vulnerable and underresearched population and provide valuable information for informing policies and programs.

Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children

Abstract Study purpose: This study raises the hypothesis that the additional demands of parenting a child with autism spectrum disorder (ASD) may lead to behavioural and personality changes consistent with the

Maternal Race–Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism:

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.