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- Egorova, Olga, et al.
(författare)
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Maternal blood folate status during early pregnancy and occurrence of autism spectrum disorder in offspring: a study of 62 serum biomarkers
- 2020
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Ingår i: Molecular Autism. - : BioMed Central. - 2040-2392. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Background: Autism spectrum disorder (ASD) evolves from an interplay between genetic and environmental factors during prenatal development. Since identifying maternal biomarkers associated with ASD risk in offspring during early pregnancy might result in new strategies for intervention, we investigated maternal metabolic biomarkers in relation to occurrence of ASD in offspring using both univariate logistic regression and multivariate network analysis.Methods: Serum samples from 100 women with an offspring diagnosed with ASD and 100 matched control women with typically developing offspring were collected at week 14 of pregnancy. Concentrations of 62 metabolic biomarkers were determined, including amino acids, vitamins (A, B, D, E, and K), and biomarkers related to folate (vitamin B9) metabolism, lifestyle factors, as well as C-reactive protein (CRP), the kynurenine-tryptophan ratio (KTR), and neopterin as markers of inflammation and immune activation.Results: We found weak evidence for a positive association between higher maternal serum concentrations of folate and increased occurrence of ASD (OR per 1 SD increase: 1.70, 95% CI 1.22–2.37, FDR adjusted P = 0.07). Multivariate network analysis confirmed expected internal biochemical relations between the biomarkers. Neither inflammation markers nor vitamin D3 levels, all hypothesized to be involved in ASD etiology, displayed associations with ASD occurrence in the offspring.Conclusions: Our findings suggest that high maternal serum folate status during early pregnancy may be associated with the occurrence of ASD in offspring. No inference about physiological mechanisms behind this observation can be made at the present time because blood folate levels may have complex relations with nutritional intake, the cellular folate status and status of other B-vitamins. Therefore, further investigations, which may clarify the potential role and mechanisms of maternal blood folate status in ASD risk and the interplay with other potential risk factors, in larger materials are warranted.
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| 2. |
- Kuja-Halkola, Ralf, et al.
(författare)
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Reproductive stoppage in autism spectrum disorder in a population of 2.5 million individuals
- 2019
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Ingår i: Molecular Autism. - : BioMed Central. - 2040-2392. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: It has been suggested that parents of children with autism spectrum disorder (ASD) curtail their reproduction, a phenomenon known as reproductive stoppage. To investigate the presence of reproductive stoppage, we followed the reproduction in mothers of children with or without an ASD diagnosis using Swedish population-based registries.Methods: We followed all families with first child born in 1987 or later. In total 2,521,103 children, nested within 1,270,017 mothers, were included. Exposure was presence of ASD diagnosis in earlier born siblings, and outcome was considered as (1) inter-pregnancy interval and (2) number of subsequent children.Results: Analyses of inter-pregnancy intervals showed that the association differed across birth orders, with a lower rate of second children when first child had ASD diagnosis, but an increased rate of third and higher birth orders in families where a previous child had an ASD diagnosis. When all birth orders were simultaneously considered, families with a child with an ASD diagnosis were less likely to have another child (hazard ratio (HR), 0.79; 95% confidence interval [95% CI], 0.78-0.80). However, when adjusted for birth order, the association was close to null (HR, 0.97; 95% CI, 0.96-0.99), and after additional adjustments (maternal age, birth period, sex, paternal age, and maternal education), the association disappeared (HR, 1.00; 95% CI, 0.99-1.02). In analyses of subsequent children, after adjustment for covariates, families with an ASD diagnosis had 4% more subsequent children (rate ratio, 1.04; 95% CI, 1.03-1.05).Limitations: The study was undertaken in a country with largely tax-funded healthcare; results may not generalize to other societies. Following the current dominating umbrella concept of ASD, we did not differentiate between the ASD sub-diagnoses; it is possible that reproductive patterns can be dependent on ASD subtypes and the severity and composition of ASD phenotypes and comorbidities.Conclusions: This study does not support a universal reproductive stoppage effect in ASD families, when birth order and other factors are considered. Therefore, proper attention to birth order and other factors may alleviate potential bias in familial aggregation studies of ASD.
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| 5. |
- Achermann, Sheila, et al.
(författare)
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Motor atypicalities in infancy are associated with general developmental level at 2 years, but not autistic symptoms
- 2020
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Ingår i: Autism. - : SAGE Publications Ltd. - 1362-3613 .- 1461-7005. ; 24:7, s. 1650-1663
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Tidskriftsartikel (refereegranskat)abstract
- Atypical motor development has frequently been reported in infants at elevated likelihood for autism spectrum disorder. However, no previous study has used detailed motion capture technology to compare infant siblings of children with autism spectrum disorder and infant siblings with no familial history of autism spectrum disorder. We investigated reaching movements during an interceptive action task in 10-month-old infants using kinematic data with high spatiotemporal resolution. The results indicated that several measures were different in infants at elevated likelihood. However, longitudinal analyses revealed that while specific infant motor measures (e.g. number of movement units) were related to broad measures of general developmental level in toddlerhood, the associations with later autism spectrum disorder symptomatology were not significant. These findings confirm that some aspects of motor functioning are atypical in infants at elevated likelihood for autism spectrum disorder, but provide no support for the view that these issues are specifically linked to autism spectrum disorder symptoms, but may rather reflect neurodevelopment more generally.Lay abstractAtypicalities in motor functioning are often observed in later born infant siblings of children with autism spectrum disorder. The goal of our study was to investigate motor functioning in infants with and without familial history of autism spectrum disorder. Specifically, we investigated how infants catch a ball that is rolling toward them following a non-straight path, a task that requires both efficient planning and execution. Their performance was measured using detailed three-dimensional motion capture technology. We found that several early motor functioning measures were different in infants with an older autistic sibling compared to controls. However, these early motor measures were not related to autistic symptoms at the age of 2 years. Instead, we found that some of the early motor measures were related to their subsequent non-social, general development. The findings of our study help us understand motor functioning early in life and how motor functioning is related to other aspects of development.
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| 8. |
- Achermann, Sheila, et al.
(författare)
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Updating Expectations about Unexpected Object Motion in Infants Later Diagnosed with Autism Spectrum Disorder
- 2021
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Ingår i: Journal of autism and developmental disorders. - : Springer Nature. - 0162-3257 .- 1573-3432. ; 51:11, s. 4186-4198
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Tidskriftsartikel (refereegranskat)abstract
- In typical development, infants form predictions about future events based on incoming sensory information, which is essential for perception and goal-directed action. It has been suggested that individuals with autism spectrum disorder (ASD) make predictions differently compared to neurotypical individuals. We investigated how infants who later received an ASD diagnosis and neurotypical infants react to temporarily occluded moving objects that violate initial expectations about object motion. Our results indicate that infants regardless of clinical outcome react similarly to unexpected object motion patterns, both in terms of gaze shift latencies and pupillary responses. These findings indicate that the ability to update representations about such regularities in light of new information may not differ between typically developing infants and those with later ASD.
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| 9. |
- Afsharnejad, Bahareh, et al.
(författare)
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Cross-cultural adaptation to Australia of the KONTAKT© Social Skills Group Training Program for Youth with Autism Spectrum Disorder : A feasibility study
- 2020
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Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 50, s. 4297-4316
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Tidskriftsartikel (refereegranskat)abstract
- This study investigated the feasibility and cultural validity of KONTAKT©, a manualised social skills group training, in improving the social functioning of adolescents with autism spectrum disorder (ASD). KONTAKT© was delivered to 17 adolescents (mage = 14.09, SDage = 1.43; 70% male) with ASD over sixteen 90 min sessions. A pre-test post-test design evaluated changes in personally meaningful social goals, symptom severity, quality of life, interpersonal efficacy, social anxiety, loneliness, and facial emotion recognition at pre, post and 3 months follow-up. Focus groups were conducted post intervention. Findings indicate that KONTAKT© may support Australian adolescents with ASD in achieving their personally meaningful social goals. This study resulted in finalisation of KONTAKT© in preparation for evaluation of its efficacy in a randomised controlled trial (Australian New Zealand Clinical Registry (ANZCTR): ACTRN12617001117303, ClinicalTrials.gov: NCT03294668).
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| 10. |
- Afsharnejad, Bahareh, et al.
(författare)
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KONTAKT© for Australian adolescents on the autism spectrum : Protocol of a randomized control trial
- 2019
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Ingår i: Trials. - : BioMed Central. - 1745-6215. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND:Individuals diagnosed with autism spectrum disorder (ASD) experience impairing challenges in social communication and interaction across multiple contexts. While social skills group training (SSGT) has shown moderate effects on various sociability outcomes in ASD, there is a need for (1) replication of effects in additional clinical and cultural contexts, (2) designs that employ active control groups, (3) calculation of health economic benefits, (4) identification of the optimal training duration, and (5) measurement of individual goals and quality of life outcomes.METHOD/DESIGN:With the aim of investigating the efficacy and cost-effectiveness of a SSGT, KONTAKT©, a two-armed randomized control trial with adolescents aged 12-17 years (N = 90) with ASD and an intelligence quotient (IQ) of over 70 will be undertaken. Following stratification for centre and gender, participants will be randomly assigned to either KONTAKT© or to an active control group, a group-based cooking programme. Participants will attend both programmes in groups of 6-8 adolescents, over 16 one-and-a-half-hour sessions. The primary outcome examined is adolescent self-rated achievement of personally meaningful social goals as assessed via the Goal Attainment Scaling during an interview with a blinded clinician. Secondary outcomes include adolescent self-reported interpersonal efficacy, quality of life, social anxiety, loneliness, face emotion recognition performance and associated gaze behaviour, and parent proxy reports of autistic traits, quality of life, social functioning, and emotion recognition and expression. Cost-effectiveness will be investigated in relation to direct and indirect societal and healthcare costs.DISCUSSION:The primary outcomes of this study will be evidenced in the anticipated achievement of adolescents' personally meaningful social goals following participation in KONTAKT© as compared to the active control group. This design will enable rigorous evaluation of the efficacy of KONTAKT©, exercising control over the possibly confounding effect of exposure to a social context of peers with a diagnosis of ASD.TRIAL REGISTRATION:Australian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12617001117303. Registered on 31 July 2017. anzctr.org.au ClinicalTrials.gov, NCT03294668. Registered on 22 September 2017. https://clinicaltrials.gov.
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