Study Finds Strong Genetic Effects on Autistic Traits

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in (a) social communication and social interaction and (b) restricted and/or repetitive behaviors or interests that varies in severity of symptoms, age of onset, and association with other disorders. ASD is both highly heritable and highly stable across age. Although improvement in symptoms is often observed between childhood and adolescence/ adulthood, longitudinal studies have found that individuals diagnosed with ASD rarely move off the spectrum and that symptom severity does not change significantly over time. Similarly, high stability has been found when autistic traits are measured in the general population.

  Research

The heritability of ASD has been established in family and twin studies. For example, twin studies in the United Kingdom, United States, Sweden, and Japan have established that the concordance rate for ASD in monozygotic (MZ) twins is much higher than in dizygotic (DZ) twins, suggesting substantial genetic influences. Likewise, twin studies of autistic traits in community and population-based samples in middle childhood and adolescence have found evidence for moderate to strong genetic effects, with the remaining variance primarily explained by non-shared environmental factors

Despite extensive research into the causal influences on autistic traits at individual ages and the finding of high stability in these traits, little is known about the overlap in genetic and environmental influences on autistic traits across age and the contribution of such influences to trait stability itself. Knowing this is important for understanding the developmental course of autistic traits and why autism behaviors appear to vary so little over time. A research study published in the Journal of the American Academy of Child & Adolescent Psychiatry investigated these questions in a general population sample of twins. More than 6,000 male and female pairs of twins were rated on a scale of autistic traits by their parents at 8, 9, and 12 years of age and by their teachers at 9 and 12 years of age. Autistic traits were assessed using the Childhood Autism Spectrum Test (CAST, formerly the Childhood Asperger Syndrome Test). The CAST was developed as a screening questionnaire for use in non-clinical settings. Data were analyzed using structural equation modeling.

                                                                                Results

The results indicated that, consistently across raters, not only were autistic traits stable and moderately to highly heritable at individual ages, but there was also a high degree of overlap in genetic influences across age. Autistic trait stability was largely accounted for by genetic factors, with the environment unique to each twin playing a minor role. The environment shared by twins had virtually no effect on the longitudinal stability in autistic traits.

                                                                             Implications

The findings of the present study have important implications for understanding ASD. They suggest that autistic traits are not only highly stable across middle childhood, but that this stability is caused largely by genetic influences in both boys and girls. This implies that stability is a biological characteristic of autistic symptoms, as opposed to being due to shared environmental factors. A caveat! The results do not mean that all variance in the stability of autistic traits is caused by genetic influences, nor do they suggest that autistic traits are fixed and resistant to change. Although the environment shared by the twins had little influence on the stability of autistic traits, the unique environment of each twin, such as being in different classes at school or receiving differential parental treatment, did appear to play a modest role in the stability of autistic traits. Despite the importance of genetics, environmental influences and treatment/intervention could still have an effect on these characteristics.

The results of this study add our knowledge of the key role that genes play in autistic traits and how these behaviors manifest themselves as children grow older. Overall, the findings suggest that the development of autistic traits in middle childhood is characterized largely by a set of stable genetic influences, but that, in addition to these influences, new genetic influences as well as modest-to-moderate environmental influences emerge at each age. Future research should include an examination of the specific nature of these causal influences on autistic traits across the lifespan. Likewise, the findings need replication in a clinical sample of individuals with ASD.

Holmboe, K., Rijsdijk, F. V., Hallett, V., Happ, F., Plomin, R., & Ronald, A. (2014). Strong genetic influences on the stability of autistic traits in childhood. J. Am. Acad. Child Adolesc. Psychiatry, 53(2), 221–230.

Lee A. Wilkinson, PhD, is the author of the award-winning books, A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools and Overcoming Anxiety and Depression on the Autism Spectrum: A Self-Help Guide Using CBT. He is also editor of a text in the APA School Psychology Book Series, Autism Spectrum Disorder in Children and Adolescents: Evidence-Based Assessment and Intervention in Schools. His latest book is A Best Practice Guide to Assessment and Intervention for Autism Spectrum Disorder in Schools (2nd Edition).

Parents of Autistic Children Experience High Levels of Stress and Fatigue

Parents of Autistic Children Experience High Levels of Stress & Fatigue

Studies indicate that the demands placed on parents caring for a child with autism contribute to a higher overall incidence of parental stress, depression, and anxiety and adversely affect family functioning and marital relationships compared with parents of children with other neurodevelopmental conditions. Negative outcomes include: (a) increased risk of marital problems; (b) decrease in father’s involvement; (c) greater parenting and psychological distress; (d) higher levels of anxiety and depression; (f) added pressure on the family system; (g) more physical and health related issues; (h) decrease in adaptive coping skills; and (i) greater stress on mothers than fathers.

Mothers, in particular, may experience high levels of psychological distress, depressive symptoms, and social isolation. For example, research has found that nearly 40% of mothers reported clinically significant levels of parenting stress and between 33% and 59% experienced significant depressive symptoms following their child’s diagnosis of ASD. Challenges in obtaining a timely ASD diagnosis and lack of appropriate treatment services and education were contributors to parental stress and dissatisfaction. Likewise, research examining maternal stress, coping strategies, and support needs among mothers of children with ASD found that the most frequently reported important unmet needs were (1) financial support; (2) break from responsibilities; (3) rest/sleep; and (4) help remaining hopeful about the future. Parents of children with ASD are at particular risk of sleep disruption and poor sleep quality owing to the high rate of sleep problems in their children.

There is also evidence to suggest that compared with mothers of typically developing children, mothers of children with ASD reported significantly higher fatigue associated with poor maternal sleep quality, a high need for social support and poor quality of physical activity. Fatigue was significantly related to other aspects of well-being, including stress, anxiety and depression, and lower parenting efficacy and satisfaction. Symptoms of depression, anxiety, stress and worry (body tension, increased heart rate and rumination) can be mentally taxing and contribute to or exacerbate fatigue.

Implications

Research and anecdotal reports clearly indicate the need for interventions to specifically target parental stress and fatigue and its impact on families affected by ASD both in the present and longer term. Understanding parent perspectives and targeting parental stress is critical in enhancing well-being and the parent-child relationship. When families receive a diagnosis of autism, a period of anxiety, insecurity, and confusion often follow. Some autism specialists have suggested that parents go through stages of grief and mourning similar to the stages experienced with a loss of a loved one (e.g., fear, denial, anger, bargaining/guilt, depression and acceptance). Sensitivity to this process can help professionals provide support to families during the critical period following the child’s autism diagnosis when parents are learning to cope with feelings and navigate the complex system of autism services.

In addition to interventions targeting child-related problems, parents are likely to benefit from psycho-education about fatigue and its potential effects on well-being, parenting and caregiving. This includes information about strategies to minimize and/or cope with the effects of sleep disruption, increase health and self-care behaviors, and strengthen opportunities for social support. An assessment of the presence and severity of the physical, cognitive and emotional symptoms of fatigue, as well as the perceived impact on daily functioning, mood, relationships, parenting and other aspects of caregiving is also an important practice consideration. Future work should involve the development and evaluation of information resources and intervention approaches to assist parents of children with an ASD to manage fatigue and promote their overall well-being. The longer-term benefits for parents in terms of strengthening their general health, welfare and parenting should also be a focus of research. Lastly, research is needed to develop an understanding of the experience of fathers in parenting a child on the autism spectrum.

                                                       Key References & Further Reading

Abidin, R. R. (2012). Parenting Stress Index (4th ed.). Lutz, FL: PAR.

Barnhill, G. P. (2014). Collaboration between families and schools. In L. A. Wilkinson (Ed.), Autism spectrum disorder in children and adolescents:  Evidence-based assessment and intervention in schools (pp. 219-241). Washington, DC: American Psychological Association.

Estes, A., Munson, J., Dawson, G., Koehler, E., Zhou, X., & Abbott, R. (2009). Parenting stress and psychological functioning among mothers of preschool children with autism and developmental delay. Autism, 13, 375-387.

Feinberg, E., Augustyn, M., Fitzgerald, E., Sandler, J., Ferreira-Cesar Suarez, Z., Chen, N…Silverstein, M. (2014). Improving maternal mental health after a child’s diagnosis of autism spectrum disorder: Results from a randomized clinical trial. JAMA Pediatrics, 168(1), 40-46. doi:10.1001/jamapediatrics.2013.3445.

Giallo, R., Wood, C. E., Jellett, R., & Porter, R. (2013). Fatigue, wellbeing and parental self-efficacy in mothers of children with an Autism Spectrum Disorder. Autism, 17, 465-480. DOI: 10.1177/1362361311416830

Kiami, S. R., & Goodgold, S. (2017). Support Needs and Coping Strategies as

Predictors of Stress Level among Mothers of Children with Autism Spectrum Disorder. Autism Research and Treatment Volume 2017, Article ID 8685950, https://doi.org/10.1155/2017/8685950

Lee, G. K. (2009). Parents of children with high functioning autism: How well do they cope and adjust? Journal of Developmental and Physical Disabilities, 21, 93-114. doi:

10.1007/s10882-008-9128-2

National Autism Center. (2015). Evidence-based practice and autism in the schools: An educator’s guide to providing appropriate interventions to students with autism spectrum disorder (2nd ed.). Randolph, MA: Author

Pottie, C. G., & Ingram, K. M. (2008). Daily stress, coping, and well-being in parents of children

with autism: A multilevel modeling approach. Journal of Family Psychology, 22, 855-

864. doi: 10.1037/a0013604

Wagner, S. (2014). Continuum of services and individualized education plan process. In L. A.

Wilkinson (Ed.). Autism spectrum disorder in children and adolescents:  Evidence-based assessment and intervention in schools (pp. 173-193). Washington, DC: American Psychological Association.

Weiss, J. A., Cappadocia, M. C., MacMullin, J. A., Viecili, M., & Lunsky, Y. (2012). The impact of child problem behaviors of children with ASD on parent mental health: The mediating role of acceptance and empowerment. Autism, 16, 261-274. doi: 10.1177/1362361311422708

Pottie, C. G., & Ingram, K. M. (2008). Daily stress, coping, and well-being in parents of children

with autism: A multilevel modeling approach. Journal of Family Psychology, 22, 855-

864. doi: 10.1037/a0013604

Wilkinson, L.A. (2017). A best practice guide to assessment and intervention for autism spectrum disorder in schools (2^nd edition). London and Philadelphia: Jessica Kingsley Publishers. 

Lee A. Wilkinson, PhD, is a licensed and nationally certified school psychologist, and certified cognitive-behavioral therapist. He is author of the award-winning books, A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools and Overcoming Anxiety and Depression on the Autism Spectrum: A Self-Help Guide Using CBT. He is also editor of a text in the APA School Psychology Book Series, Autism Spectrum Disorder in Children and Adolescents: Evidence-Based Assessment and Intervention in Schools, His latest book is A Best Practice Guide to Assessment and Intervention for Autism Spectrum Disorder in Schools (2nd Edition).

Autism and Theory of Mind (ToM)

What is Theory of Mind?

Synonyms

Empathizing; Mentalizing; Mindreading; Perspective taking

Definition

The ability to attribute mental states such as thoughts, desires, knowledge, and intentions to self and others, and to make sense of and predict another person’s behavior.

Description

ToM is a cognitive (attribution) component of empathy; the ability to identify cues that indicate the thoughts and feelings of others and “to put oneself into another person’s shoes.” It is also referred to as “mentalizing,” “mindreading,” and “perspective taking.” The ability to reflect on one’s own and other people’s minds (beliefs, desires, intentions, imagination and emotions) allows us to interact effectively with others in the social world. Most typical individuals are able to mindread relatively easily and intuitively. For example, we can read a person’s facial expression and body language, and tone of voice and recognize his or her thoughts and feelings, and the likely course of behavior. In other words, we interpret, predict, and participate in social interaction automatically, and for the most part, instinctively. This attribution of mental states is a fundamental component of social interaction and communication. A deficit in ToM results in an inability to appreciate other people’s emotions and thoughts, and to make sense of or predict another’s actions. As a consequence, the person with impaired ToM is said to have a form of “mindblindness” or a delay in cognitive empathizing ability.

Autism and ToM

The concept of ToM has been widely studied over the past two decades and used to explain the development of social cognition and the core social deficits of developmental disorders such as autism. The understanding of other people’s mental states develops early in life and becomes more complex with advancing age. Research suggests that typically developing children, in contrast to those with autism, develop a set of skills which enable them to comprehend and respond to other people’s mental states and feelings. For example, children can understand relationships between mental states by 3 years of age. By age four, they can understand that people can hold false beliefs (deception). Typical children at age seven begin to understand what not to say to avoid offending others. A typical 9 year old can interpret another person’s facial expressions and figure out what they are thinking or feeling. 

It is a delay or deficit in the process of cognitive empathizing or ToM that has the potential to explain the lack of pretend play and the core social and communication problems diagnostic of children with autism. The empathizing dimension has been broadened to include an affective (emotional) component and a second factor termed systemizing to explain the non-social areas of strength often demonstrated by individuals with autism spectrum conditions. Children with ToM challenges frequently experience academic, behavioral, and emotional problems related to their social skills deficits. Impairments in social reciprocity and communication are one of the defining characteristics of autism spectrum disorder. Consequently, interventions focusing on social adaptive skills are critically important to the treatment of this group of children. While the research on the effectiveness of social skills intervention is still in the formative stage, several programs have been developed to promote prosocial behavior and expand ToM abilities among children with autism spectrum disorder. They include: social stories, computer programs such as Mind Reading: The Interactive Guide to Emotions and The Transporters; ToM teaching programs; and social skills programming.

Key References and Further Reading

Baron-Cohen, S. (1991). The theory of mind deficit in autism: how specific is it? British Journal of Developmental Psychology, 9. 301-314.

Baron-Cohen, S., Jolliffe, T., Mortimore, C., & Robertson, M. (1997). Another advanced test of theory of mind: evidence from very high functioning adults with autism or Asperger Syndrome. Journal of Child Psychology and Psychiatry, 38. 813-822.

Baron-Cohen, S., Ring, H. A., Bullmore, E. T., Wheelwright, S., Ashwin, C., & Williams, S. C. R. (2000). The amygdala theory of autism. Neuroscience & Biobehavioral Reviews, 24(3), 355-364.

Baron-Cohen, S., & Swettenham, J. (1997). Theory of mind in autism: Its relationship to executive function and central coherence. Handbook of autism and pervasive developmental disorders, 880-893.

Baron-Cohen, S. (2000). Theory of mind in autism: A fifteen year review. In S. Baron-Cohen, H. TagerFlusberg, & D. J. Cohen (Eds.), Understanding other minds: Perspectives from developmental cognitive neuroscience (pp. 3–20). New York: Oxford University Press

Fletcher-Watson, S, McConnell, F, Manola, E & McConachie, H 2014, 'Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD)' Cochrane database of systematic reviews. DOI: 10.1002/14651858.CD008785.p

Begeer S. Theory of mind interventions can be effective in treating autism, although long-term success remains unproven Evidence-Based Mental Health 2014;17:120.

Fletcher-Watson S, McConnell F, Manola E, McConachie H. Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews 2014, Issue 3. Art. No.: CD008785. DOI: 10.1002/14651858.CD008785.pub2

Gray, C. A. (1998). Social stories and comic strip conversations with students with Asperger Syndrome and high-functioning Autism. In E. Schopler, G. B. Mesibov, & L. J. Kunce (Eds.), Asperger syndrome or high functioning autism? (pp. 167-194). NY: Plenum Press.

Holopainen, A., de Veld, D.M.J., Hoddenbach, E. et al. (2018). Does Theory of Mind Training Enhance Empathy in Autism? Journal of Autism Developmental Disorders.  https://doi.org/10.1007/s10803-018-3671-1

Hutchins, T., & Prelock, P. A. (2008). Supporting theory of mind development: Considerations and recommendations for professionals providing services to individuals with ASD. Topics in Language Disorders, 28 (4), 340-364.

O’Brien, K., Slaughter, V. & Peterson, C.C. (2011). Sibling influences on theory of mind development for children with ASD. J Child Psychology & Psychiatry, 52(6), 713-719.

O’Hare, A.E., Bremner, L., Nash, M., Happe, F., Pettigrew, L.M. (2009). A clinical assessment tool for advanced theory of mind performance in 5 to 12 year olds. JADD, 39(6), 916-928.

Sprung, M. (2010). Clinically relevant measures of children’s theory of mind and knowledge about thinking: Non-standard and advanced measures. Child and Adolescent Mental Health, 15(4), 204-216.

Tager-Flusberg, H. (2001). A reexamination of the theory of mind hypothesis of Autism. In J. A. Burack, T. Charman., N. Yirmiya., & P. R. Zelazo (Eds.), The development of autism: Perspectives from theory and research (pp.173-193). Mahwah, NJ: Lawrence Erlbaum.

Wellman, H. M., Baron-Cohen, S., Caswell, R., Gomez, J. C., Swettenham, J., Toye, E., & Lagattuta, K. (2002). Thought-bubbles help children with autism acquire an alternative to a theory of mind. Autism, 6(4), 343-363.

Wilkinson, L. A. (2011). Mindblindness in Encyclopedia of Child Behavior and Development, Part 13, 955-956, DOI: 10.1007/978-0-387-79061-9_1795

Wilkinson L. (2012). DSM-5: Rethinking Asperger’s Disorder. Autism 2:e113 10.4172/2165-7890.1000e113 

Wilkinson, L. A. (2015). Overcoming Anxiety on the Autism Spectrum: A Self-Help Guide Using CBT. London and Philadelphia: Jessica Kingsley Publishers.

Wilkinson, L. A. (2017). A best practice guide to assessment and intervention for autism spectrum disorder in schools. Jessica Kingsley Publishers. London and Philadelphia.

Lee A. Wilkinson, PhD, is a licensed and nationally certified school psychologist, and certified cognitive-behavioral therapist. He is author of the award-winning books, A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools and Overcoming Anxiety and Depression on the Autism Spectrum: A Self-Help Guide Using CBT. He is also editor of a text in the APA School Psychology Book Series,  Autism Spectrum Disorder in Children and Adolescents: Evidence-Based Assessment and Intervention in Schools. His latest book is A Best Practice Guide to Assessment and Intervention for Autism Spectrum Disorder in Schools (2nd Edition).

Suicide Risk in Autistic Children & Youth

Suicide Risk in Autism

Suicide and suicidal ideation are serious public health problems among youth in the United States. Suicide is the third leading cause of death among individuals between the ages of 10 and 14, and the second leading cause of death among individuals between the ages of 15 and 24. More teenagers and young adults die from suicide than from cancer, heart disease, AIDS, birth defects, stroke, pneumonia, influenza, and chronic lung disease, combined. It is estimated that 1 in 12 high school students may attempt suicide each year and that more than 2 million adolescents aged 12 to 17 suffered a major depressive episode in the past year. Moreover, estimates for suicide deaths in younger age groups tend to be conservative because suicide deaths may be misclassified as accidental or undetermined. The extant research indicates a strong relationship between depression and suicidal ideation or attempts.

Children and youth with autism frequently have co-occurring (comorbid) psychiatric conditions, with rates significantly higher than would be expected from the general population. In fact, depression is one of the most common comorbid conditions observed in autistic individuals, particularly higher functioning youth. Studies of psychiatric comorbidity in young adults with autism revealed that a majority had experienced at least one episode of major depression and reported recurrent major depression. Although depression is frequent in autism, there is little research available on suicidal ideation and attempts in autistic children and youth. This knowledge is critical to help identify at-risk children and target risk factors for intervention in order to reduce and prevent suicide ideation and attempts.

Research

Experts agree that much needs to be learned about suicide ideation and attempts, depression, and other psychiatric comorbidities in ASD. A study published in Research in Autism Spectrum Disorders examined the frequency of suicide ideation and attempts, as well as risk factors in 791 children with autism (1–16 years), 35 depressed children without ASD, and 186 typical children. Mothers rated their children on a 4-point scale from “not at all a problem” to “very often a problem” on a 165-item pediatric behavior scale (PBS). Dependent variables were two items assessing suicide ideation (“talks about harming or killing self”) and attempts (“deliberately harms self or attempts suicide”). Co-occurring problems scores on the PBS included teased by peers; behavior problems (e.g., disobedient, defiant, and aggressive); mood dysregulation (e.g., explosive, irritable, and temper tantrums); attention deficit, impulsive; hyperactive, anxious, depressed, poor peer relationship (e.g., difficulty making friends); psychotic features (e.g., hallucinations and confusing fantasy and reality); underaroused (e.g., drowsy and sluggish), eating disturbance (e.g., poor appetite, over eating, binging, and purging); excessive sleep, sleeping less than normal and difficulty falling and staying asleep; and somatic complaints (e.g., headaches and stomachaches).

Results

Data analyses compared scores between the children with autism, depression, and typical development. Age, IQ, gender, race, socio-economic status (SES), autism severity, teased, and comorbid psychological problem scores also analyzed to predict children whose mothers rated suicide ideation or attempts as sometimes to very often a problem versus never a problem. The results indicated that the percentage of children with autism who had ideation or attempts was 28 times greater than that for typical children, but less than for depressed children. For children with autism, four demographic variables (age 10 or older, minority status, lower SES, and male) were significant risk factors of suicide ideation or attempts. The majority of children (71%) who had all four demographic risk factors had ideation or attempts. Comorbid psychological problems most highly predictive of ideation or attempts were depression, behavior problems, and being teased or bullied. Almost half of children with these problems had suicide ideation or attempts. Depression was the strongest single predictor of suicide ideation or attempts in children with autism with 77% of children with ideation or attempts considered by their mothers to be depressed. A significant finding was that there was no difference in the frequency of suicide ideation or attempts between higher functioning children with autism and those children with more severe impairment (e.g.., intellectual disability).

Implications

This study provides important information regarding the risk factors related to suicide in autistic children and youth. A major finding is that many of the predictors of and variables associated with suicide behavior in adolescent and adult psychiatric and non-psychiatric samples are also found in children with autism. For example, ideation or attempts were associated with behavior problems (disobedient, defiant, and aggressive), impulsivity, and mood dysregulation (explosive, irritable, and temper tantrums). Children with these externalizing problems combined with the internalizing problem of depression are at high risk for suicide ideation and attempts. Teasing and bullying by peers is a common problem for children on the spectrum and was reported by a majority of mothers in the study. Suicide ideation or attempts were three times more frequent in children who were teased than in those not teased. The finding that the frequency of suicide ideation and attempts did not differ as a function of severity or IQ also suggests that many of the correlates of suicide behavior apply across the entire autism spectrum.

The authors recommend that all children with autism be screened for suicide ideation or attempts because the frequency of ideation and attempts is significantly higher than in typical children and does not differ as a function of autism severity or IQ. This is especially important for children who have demographic and comorbid risk factors, including age 10 or older, male, minority status, lower SES, teased, depressed, impulsive, behavior problems, and mood dysregulation. Practitioners must fully be aware of the risk of suicide along with preventative and treatment methods. Addressing suicide in youth relies on prevention techniques and modification of risk factors, along with therapeutic intervention once children are identified as at-risk. Evidence-based techniques to reduce depression and prevent suicide should be incorporated into programs and services for autistic children who present with risk factors. This should include interventions aimed at addressing co-occurring problems that may contribute to suicidal ideation and attempts, such as teasing, depression, behavior problems, impulsivity, and mood dysregulation. Lastly, future research should investigate other predictors (e.g., previous attempts, negative life events, family history of suicide, and biologic and neurochemical variables), which may improve identification of children at risk for suicide ideation and attempts.

Mayes, S. D., Gorman, A. A., Hillwig-Garcia, J., & Syed, E. (2013). Suicide ideation and attempts in children with autism. Research in Autism Spectrum Disorders, 7, 109-119.

Lee A. Wilkinson, PhD, is a licensed and nationally certified school psychologist, and certified cognitive-behavioral therapist. He is author of the award-winning books, A Best Practice Guide to Assessment and Intervention for Autism and Asperger Syndrome in Schools and Overcoming Anxiety and Depression on the Autism Spectrum: A Self-Help Guide Using CBT. He is also editor of a text in the APA School Psychology Book Series, Autism Spectrum Disorder in Children and Adolescents: Evidence-Based Assessment and Intervention in Schools. His latest book is A Best Practice Guide to Assessment and Intervention for Autism Spectrum Disorder in Schools (2nd Edition).