Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study

Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden through online surveys targeting parents with at least one autistic child and autistic adolescents (from 15 years) and adults. In total, 868 parents of autistic children and 213 autistic adolescents or adults completed the survey. Only 9.1% ( n = 79) of parents and 2.8% ( n = 6) of autistic adolescents/adults reported having received a referral for clinical genetic testing after autism spectrum disorder diagnosis. The autistic children offered a referral were younger at diagnosis ( p < 0.001) and more likely to have an additional neurodevelopmental diagnosis ( p < 0.01), including intellectual disability ( p < 0.001) or a language disorder ( p < 0.001). Genetic counseling was provided to less than half of the families that were referred for clinical genetic testing. Finally, we report that both respondent groups preferred to be informed by written text and an expert in genetics about clinical genetic testing. This study highlights a lack of awareness and access to clinical genetic testing after autism spectrum disorder diagnosis in Sweden and demonstrates the need for additional studies on how clinical guidelines for genetic testing are followed in different countries. Lay abstract Several medical professional societies recommend clinical genetic testing for autistic individuals as many genetic conditions are linked to autism. However, it is unclear to what extent autistic individuals and parents of autistic children are offered clinical genetic testing. We conducted a community-based survey to estimate the access, utilization, and awareness for clinical genetic testing in Sweden. In total, 868 parents of autistic children and 213 autistic adolescents or adults participated as respondents. The referral rate for clinical genetic testing after autism spectrum disorder diagnosis was low, with only 9.1% for the autistic children as reported by their parents and 2.8% for autistic adolescents/adults. The autistic children who got referrals were more likely to have intellectual disability and language disorder. We also report that awareness of the clinical genetic testing possibility was low in both respondent groups. We also highlight preferred communication means and needs for information before clinical genetic testing. Our results show that utilization and access are low in Sweden, and more studies should be conducted to report these rates in different countries to analyze the effects of clinical genetic testing on healthcare for autistic individuals. Our results highlight the most important information for the families and how the information should be communicated prior to clinical genetic testing.

Sleep problems and daytime functioning in adolescents with ASD

Sleep problems commonly occur in adolescents with an autism spectrum disorder diagnosis (ASD). However, the knowledge of how sleep problems affect those adolescents’ lives is fragmentised. This review focuses on the question: What is the relationship between sleep and daytime functioning in adolescents with ASD. An electronic database (PsycINFO, Cochrane, ERIC, PubMed, WOS) and hand search (INSAR congress archive and included studies reference lists) was performed in September 2020 resulting in 2561 studies. Studies were included if they contained autistic participants aged between 10 and 19 without intellectual disability, related sleep to daytime functioning, were available in English, and used original data. Nine studies were included (Nparticipants = 674). The most prominent finding was the association of all sleep parameters with internalizing problems. Furthermore, most significant associations with daytime functioning were found for sleep problems in general and for sleep efficiency. The results provide input for tailored sleep interventions. However, more research is needed to get a clearer picture of the relationship between specific sleep parameters and daytime functioning to ensure that this knowledge will provide better input for sleep interventions. It is important to focus on limited age ranges, larger samples sizes, multiple measurement methods, and longitudinal approaches.

Resources, Problems and Challenges of Autism Spectrum Disorder Diagnosis and Support System in Poland

The article refers to resources, problems and challenges of autism diagnosis and support system in Poland. The resources include: the increasing number of specialists, diagnostic and therapeutic centres, well-established course of education for people working with youths, standardised and normalised diagnostic tools. The diagnostic process is not without some areas in need of our focus: the tendency of some specialists to make unauthorised diagnosis, overshadowing; underestimation of comorbidity of ASD with other disorders. The challenges refer to introducing an effective system of monitoring the services provided in form of certification and control in order to prevent their abuse, initiating category of temporary diagnosis; paying more attention on individual’s resources, better cooperation among specialists, teachers and families, developing and unifying diagnostic standards.

Diagnostic- and sex-based differences in depression symptoms in autistic and neurotypical early adolescents

Prevalence rates of depression are higher in autistic youth than neurotypical peers, yet the effects of autism spectrum disorder diagnosis and sex on depressive symptom severity remain incompletely understood, particularly in specific age groups. Using the Children’s Depression Inventory, Second Edition, this study explored diagnostic- and sex-based differences in depressive symptom severity in a sample of 212 autistic and neurotypical early adolescents (10:0–13:5 years). Significant group differences were found according to autism spectrum disorder diagnosis [ d = 0.587, 95% confidence interval (0.308, 0.867)] and sex [ d = 0.365, 95% confidence interval (0.089, 0.641)], with more depressive symptoms endorsed in the autism spectrum disorder and female groups. However, the interaction of diagnosis and sex was not significant, suggesting an additive risk of autism spectrum disorder status and female sex. Item-level analyses showed diagnostic differences on nearly half of the CDI-2 items with higher severity in the autism spectrum disorder group (Probability of Superiority range = 0.42–0.65), differences within the sexes, and differences by diagnosis, which persisted when limiting analyses to children with high levels of depressive symptoms. A more nuanced understanding of symptom endorsement and the roles of diagnosis and sex may uncover salient intervention targets for depression in the unique context of autism spectrum disorder. Lay abstract Depression is more common in autistic adolescents than their neurotypical peers, but the effects of diagnosis and sex on the severity and types of depressive symptoms remain unclear. The study explored diagnostic- and sex-based differences in depressive symptoms in 212 autistic and neurotypical early adolescents. Results show that autism spectrum disorder and female may pose elevated risks, and depressive symptoms related to interpersonal problems and negative self-esteem are more frequent in autism spectrum disorder. Autistic males and females endorsed similar severity and type of depressive symptoms, but unique differences emerged when compared to sex-matched neurotypical peers. Exploratory analyses in a clinical subsample of early adolescents with elevated depressive symptoms (Children’s Depression Inventory, Second Edition, Total T-score ⩾60) revealed more endorsement of beliefs of worthlessness in autistic early adolescents. Findings suggest initial intervention targets for treating depression in autistic early adolescents.