Prospective Association of Parenting Stress with Later Child Behavior Problems in Early Childhood Autism.

PURPOSE: Autistic children are reported to display higher levels of externalizing and internalizing behaviors than neurotypical children, and their parents report more stress than parents of neurotypical children. It is unclear whether child behavior difficulties contribute to increased parenting stress, whether parenting stress contributes to child behavior difficulties, or whether the relationship may be bidirectional. METHODS: We investigated prospective bidirectional associations between parenting stress and child externalizing and internalizing behaviors when autistic children were aged on average 3.5, 4.5, and 5.5 years. Data collected at these three timepoints were examined across two panels: Time 1 to Time 2 (n = 38 parent-child dyads) and Time 2 to Time 3 (n = 27 dyads). RESULTS: Across Time 1 to Time 2, early parenting stress was significantly associated with later child externalizing behavior, and cross-lagged panel analysis supported a uni- rather than a bidirectional association between these factors. There was some evidence of a bidirectional association between parenting stress and child internalizing behavior, though this was non-significant when the strong stability of child internalizing behavior was statistically controlled. In contrast, across Time 2 to Time 3, there were no significant prospective associations found between variables, highlighting the importance of considering the impact of parenting stress early in the course of childhood autism. CONCLUSION: Our results add to research indicating that support targeting parent characteristics, especially parenting stress, could ameliorate subsequent outcomes for both parents and children.

Parental Imitations and Expansions of Child Language Predict Later Language Outcomes of Autistic Preschoolers.

Both the amount and responsiveness of adult language input contribute to the language development of autistic and non-autistic children. From parent-child interaction footage, we measured the amount of adult language input, overall parent responsiveness, and six discrete parent responsive behaviours (imitations, expansions, open-ended questions, yes/no questions, comments and acknowledgements) to explore which types of responsiveness predicted autistic preschoolers' language five months later, after controlling for adult language input. We found expansions and particularly imitations to be more important for later language than overall responsiveness. This study emphasises the need to capture what exactly about parent language input influences child language acquisition, and adds to the evidence that imitating and expanding early language might be particularly beneficial for autistic preschoolers.

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large multigenerational family of European ancestry with multiple family members affected with ASD or the broader autism phenotype (BAP). We identified a rare heterozygous variant in the gene encoding 1,4-ɑ-glucan branching enzyme 1 (GBE1) that was present in seven of seven individuals with ASD, nine of ten individuals with the BAP, and none of four tested unaffected individuals. We genotyped a community-acquired cohort of 389 individuals with ASD and identified three additional probands. Cascade analysis demonstrated that the variant was present in 11 of 13 individuals with familial ASD/BAP and neither of the two tested unaffected individuals in these three families, also of European ancestry. The variant was not enriched in the combined UK10K ASD cohorts of European ancestry but heterozygous GBE1 deletion was overrepresented in large ASD cohorts, collectively suggesting an association between GBE1 and ASD.

Relative predictive utility of the original and Autism-Specific Five-Minute Speech Samples for child behaviour problems in autistic preschoolers: A preliminary study.

LAY ABSTRACT: Parental Expressed Emotion refers to the intensity and nature of emotion shown when a parent talks about their child, and has been linked to child behaviour outcomes. Parental Expressed Emotion has typically been measured using the Five-Minute Speech Sample; however, the Autism-Specific Five-Minute Speech Sample was developed to better capture Expressed Emotion for parents of children on the autism spectrum. In each case, parents are asked to talk for 5 min about their child and how they get along with their child. Parents' statements are then coded for features such as number of positive and critical comments, or statements reflecting strong emotional involvement. While both the Five-Minute Speech Sample and Autism-Specific Five-Minute Speech Sample have been used with parents of autistic school-aged children, their relative usefulness for measuring Expressed Emotion in parents of preschool-aged children - including their links to child behaviour problems in this group - is unclear. We collected speech samples from 51 parents of newly diagnosed autistic preschoolers to investigate similarities and differences in results from the Five-Minute Speech Sample and Autism-Specific Five-Minute Speech Sample coding schemes. This included exploring the extent to which the Five-Minute Speech Sample and Autism-Specific Five-Minute Speech Sample, separately, or together, predicted current and future child behaviour problems. While the two measures were related, we found only the Autism-Specific Five-Minute Speech Sample - but not the Five-Minute Speech Sample - was related to child behavioural challenges. This adds support to the suggestion that the Autism-Specific Five-Minute Speech Sample may be a more useful measure of parental Expressed Emotion in this group, and provides a first step towards understanding how autistic children might be better supported by targeting parental Expressed Emotion.

Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis.

Importance: Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date. Objective: To determine the efficacy of a preemptive intervention for ASD beginning during the prodromal period. Design, Setting, and Participants: This 2-site, single rater-blinded randomized clinical trial of a preemptive intervention vs usual care was conducted at 2 Australian research centers (Perth, Melbourne). Community sampling was used to recruit 104 infants aged 9 to 14 months showing early behaviors associated with later ASD, as measured by the Social Attention and Communication Surveillance-Revised. Recruitment occurred from June 9, 2016, to March 30, 2018. Final follow-up data were collected on April 15, 2020. Interventions: Infants were randomized on a 1:1 ratio to receive either a preemptive intervention plus usual care or usual care only over a 5-month period. The preemptive intervention group received a 10-session social communication intervention, iBASIS-Video Interaction to Promote Positive Parenting (iBASIS-VIPP). Usual care comprised services delivered by community clinicians. Main Outcomes and Measures: Infants were assessed at baseline (approximate age, 12 months), treatment end point (approximate age, 18 months), age 2 years, and age 3 years. Primary outcome was the combined blinded measure of ASD behavior severity (the Autism Observation Scale for Infants and the Autism Diagnostic Observation Schedule, second edition) across the 4 assessment points. Secondary outcomes were an independent blinded clinical ASD diagnosis at age 3 years and measures of child development. Analyses were preregistered and comprised 1-tailed tests with an α level of .05. Results: Of 171 infants assessed for eligibility, 104 were randomized; 50 infants (mean [SD] chronological age, 12.40 [1.93] months; 38 boys [76.0%]) received the iBASIS-VIPP preemptive intervention plus usual care (1 infant was excluded after randomization), and 53 infants (mean [SD] age, 12.38 [2.02] months; 32 boys [60.4%]) received usual care only. A total of 89 participants (45 in the iBASIS-VIPP group and 44 in the usual care group) were reassessed at age 3 years. The iBASIS-VIPP intervention led to a reduction in ASD symptom severity (area between curves, -5.53; 95% CI, -∞ to -0.28; P = .04). Reduced odds of ASD classification at age 3 years was found in the iBASIS-VIPP group (3 of 45 participants [6.7%]) vs the usual care group (9 of 44 participants [20.5%]; odds ratio, 0.18; 95% CI, 0-0.68; P = .02). Number needed to treat to reduce ASD classification was 7.2 participants. Improvements in caregiver responsiveness and language outcomes were also observed in the iBASIS-VIPP group. Conclusions and Relevance: Receipt of a preemptive intervention for ASD from age 9 months among a sample of infants showing early signs of ASD led to reduced ASD symptom severity across early childhood and reduced the odds of an ASD diagnosis at age 3 years. Trial Registration: http://anzctr.org.au identifier: ACTRN12616000819426.

Comparison of mental health, well-being and parenting sense of competency among Australian and South-East Asian parents of autistic children accessing early intervention in Australia.

LAY ABSTRACT: We know that parents of autistic children experience poorer mental health and lower well-being than parents of non-autistic children. We also know that poorer mental health among parents of autistic children has been observed across different cultures. Most research focuses on Western cultures, so we know little about parental mental health and well-being of parents from different cultural backgrounds; yet, it is likely that cultural background contributes to how parents view their child's condition and respond to the diagnosis. Here, we compared mental health, quality of life and well-being between families raising an autistic child from Australian backgrounds to families from South-East Asian backgrounds. All children in the current study were receiving the same community-based early intervention. When compared to the general population, parents had poorer mental health overall, but there were no differences between the two groups of parents. However, parents from South-East Asian backgrounds reported higher well-being and fewer difficulties associated with their child's autism. These findings suggest that cultural background likely influences not only parent's view of, and response to, their child's autism, but also their own sense of well-being. As researchers and clinicians working with families of autistic children, we should more explicitly consider family's cultural background within our work.

Differential predictors of well-being versus mental health among parents of pre-schoolers with autism.

LAY ABSTRACT: Raising a child with autism has been linked to mental health difficulties. Poor parental mental health is likely influenced by various factors - including child-, parent-, and family/socioeconomic characteristics. However, little is known about what influences and promotes well-being (as opposed to mental health) among parents of young, newly diagnosed autistic children who may be particularly vulnerable. We examined child-, parent-, and family/socioeconomic factors associated with each of mental health and well-being in a sample of 136 parents of pre-school-aged children. Parental mental health was linked to both child- (i.e. autism symptom severity) and parent-related factors (i.e. personality traits reflecting a tendency to experience negative emotions). By contrast, in additional to mental health difficulties, which were linked to well-being, only other parent-related characteristics (and not child characteristics) were related to well-being. These included personality traits reflecting a tendency to be more extraverted/sociable, and also mindfulness. Other child-related and family/socioeconomic context factors (including household income, parental education level) were not linked to parental mental health or well-being in this sample. These results support the idea that poorer mental health and well-being are not simply the opposite of one another. That is, while these two factors were related, they were linked to different personal characteristics. Perhaps most importantly, the link between well-being and mindfulness - a personal characteristic that parents can improve - suggests mindfulness-based interventions may be helpful in directly supporting parental well-being in the context of raising a young child with autism.

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the "Broader Autism Phenotype" (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families (n = 45). Our protocol identified four distinct psychological endophenotypes of the BAP that were evident across these independent samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. Patterns of inheritance of identified endophenotypes varied between the two large multiplex families, supporting their utility for identifying genes in ASD.

Non-native language proficiency may influence the responsiveness of bilingual parents towards young children with autism: A short report.

Background and aims: Although bilingualism is a common worldwide phenomenon, limited research has considered the experiences of children with autism growing up in bilingual environments. Here, we investigated the potential influence of parental bilingualism, and native vs. non-native language use, on responsiveness to children's communication attempts during parent-child interactions where the child had autism. Specifically, we investigated the amount of parent responses to child verbal communication (frequency) and the promptness of these responses (temporal synchrony). Methods: Participants were 22 monolingual and 20 bilingual parents and their children with autism aged 2-6 years, recruited from a multicultural, metropolitan city where English is the dominant language. Extending from our previous report on this sample, we identified the frequency and temporal synchrony of parent responses from filmed 10-minute free-play sessions. Monolingual parents were videoed during one free-play session in English. Bilingual parents were videoed during two free-play sessions; one in their native language and one in English. We compared the frequency and temporal synchrony of parental responses across monolingual and bilingual parent groups and, for bilingual parents, across native vs. non-native (English) language interaction samples. Finally, we examined how other measures of bilingual parents' non-native language proficiency were associated with interaction responsiveness measures. Results: When using their native language, bilingual parents demonstrated reduced frequency of responsiveness (even when controlling for opportunities provided by the child) and less temporal synchrony to child communication compared to English-speaking monolingual parents. Bilingual parents were also less frequently responsive (but not less temporally synchronous) during their native- compared to during their non-native (English) language interactions. Moreover, for bilingual parents, more frequent responsiveness to child communication bids when interacting in non-native English was associated with greater assessed English vocabulary knowledge. Conclusions: In this sample, use of non-native English did not appear to adversely affect how often, or how quickly, bilingual parents responded to their children's verbal communication bids. However, nor did we find evidence of a native-language advantage. Rather, during English-language interactions, when these bilingual parents were responsive towards their children, this was on par with rates and timing of responsiveness shown by English-speaking monolinguals. This may partly be explained by bilinguals' non-native language proficiency, and habitual use/personal dominance patterns. Implications: These data suggest no definitive drawback of non-native language use for synchronous responsiveness by bilingual parents interacting with young children with autism. However, our data also serve to highlight the complex, multifaceted nature of adult bilingualism, and indicate the need for more research - with large, well-characterised samples - to permit strong conclusions concerning how parental language-use choices may influence children's natural learning environments, including in the context of autism and developmental language impairments.

Cognitive processes predicting advanced theory of mind in the broader autism phenotype.

Little is known about executive functions (EFs) associated with advanced theory of mind (ToM) abilities. We aimed to determine if advanced ToM abilities were reduced in individuals with subclinical traits of autism spectrum disorder (ASD), known as the "Broader Autism Phenotype" (BAP), and identify the EFs that predicted unimpaired performance on an advanced ToM task, the faux pas test. We assessed 29 participants (13 males) with the BAP who were relatives of children with ASD. Thirteen participants showed reduced ability to understand a faux pas. A discriminant function analysis correctly classified 79% of cases as impaired or unimpaired, with high sensitivity (80%) and specificity (77%), which was best predicted by language-mediated EFs, including verbal generativity, working memory, cognitive inhibition, and flexibility. Autism Res 2020, 13: 921-934. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Little is known about the complex cognitive processes that enable accurate interpretation of another person's thoughts and emotions, known as "theory of mind." In relatives of individuals with autism, who had mild traits of autism themselves, approximately half had difficulty interpreting situations involving a social faux pas. Cognitive inhibition and flexibility, working memory, and verbal generativity were related to, and appeared to be protective for, unimpaired understanding of a faux pas.

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Spectrum Disorder (ASD). The reprogramming of the PBMCs was performed using non-integrative Sendai virus containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and MYC. All iPSC lines exhibited a normal karyotype and pluripotency was validated by immunofluorescence, flow cytometry and their ability to differentiate into the three embryonic germ layers. These iPSC lines are a valuable resource to study the molecular mechanisms underlying ASD.

Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder.

Recent findings suggest that children with Autism Spectrum Disorder (ASD) are larger in size for head circumference (HC), height, and weight compared to typically developing (TD) children; however, little is known about their rate of growth, especially in height and weight. The current study aimed to: (a) confirm and extend upon previous findings of early generalized overgrowth in ASD; and (b) determine if there were any differences in the rate of growth between infants and toddlers with ASD compared to their TD peers. Measurements of HC, height, and weight were available for 135 boys with ASD and 74 TD boys, from birth through 3 years of age. Size and growth rate in HC, height, and weight were analyzed using a linear mixed-effects model. Infants with ASD were significantly smaller in size at birth for HC, body length, and weight compared to TD infants (all P < 0.05); however, they grew at a significantly faster rate in HC and height in comparison to the TD children (P < 0.001); there was no significant difference between the groups in growth rate for weight (P > 0.05). The results confirmed that male infants and toddlers with ASD exhibit skeletal growth dysregulation early in life. Autism Res 2018, 11: 846-856. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Recent findings suggest that infants with Autism Spectrum Disorder (ASD) are smaller in size at birth compared to typically developing infants but grow larger than their peers during the first year. Little is known about their rate of growth, especially for height and weight. Our findings confirmed that infants with ASD are smaller in size at birth for head circumference (HC), height, and weight, but grow at a faster rate in HC and height than their peers from birth to 3 years.