Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder where a child has trouble building important social communication skills and shows interests and behaviors that are often limited and repetitive.

Usually, the symptoms of ASD are noticed between 12 and 24 months of age. They might be seen earlier if a child’s developmental delays are severe or not seen until after 24 months if a child’s symptoms are more subtle. The symptoms of ASD affect children in two main ways:

– These children have challenges with communicating and socializing with others.

– These children have repetitive and restricted behaviors and/or interests.

Our understanding of ASD has changed over time. In the past, children were diagnosed with different conditions known as pervasive developmental disorders (PDDs):

– Autism

– Asperger’s Disorder

– Childhood Disintegrative Disorder (CDD)

– Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)

Now, all of these are considered ASD. Because children with ASD can have a range of different symptoms and behaviors, it is called a “spectrum disorder.” The term “spectrum” refers to the many different autistic traits and combinations of traits that can exist in several areas. These areas include social communication, social awareness, sensory processing, information processing, repetitive behaviors, and thinking style.

What are the symptoms of ASD?

ASD looks different in each child, and not every child shows every symptom. For some children, the symptoms are mild, and for others, the symptoms are severe. Children with ASD often show symptoms by the time they are 2 years old, although some children’s symptoms remain unnoticed until they are older. Some children even start to lose or “regress” in their language, motor, or social skills between 1 and 2 years of age.

Symptoms of ASD are grouped into two categories: deficits in social communication and social interaction; and restricted and repetitive behaviors and interests. The symptoms must be present early in the child’s life even if they do not cause problems until later in life (e.g., when social interactions become more complex), and they must cause significant problems in other parts of everyday life (e.g., social, family, school, etc.).

Deficits in social communication and social interaction

– Difficulties understanding other children’s or adults’ emotions and perspectives

– Difficulties with understanding and using nonverbal communication

– Difficulties making and keeping social relationships

Restricted and repetitive behaviors and interests

– Repetitive or “stereotyped” motor movements, speech, or use of objects (e.g., finger movements, hand flapping, rocking back and forth, etc.)

– Ritualized patterns of behavior (e.g., always doing the same activity at the same time)

– Highly restricted or fixated interests

– Sensory hypo- or hyper-reactivity (e.g., showing extreme discomfort in loud, crowded, or bright places)

Associated symptoms of ASD

– Delays in learning to speak

– Rarely or poorly making eye contact with others

– Disliking cuddling or hugging

– Preferring to play alone or having trouble playing with others

– Having trouble using motions or gestures to communicate

– Speaking in a robotic or sing-song way

– Repeating phrases over and over

– Trouble participating in a conversation

– Trouble making friends

– Repeating the same action over and over again

– Struggling when changes to a routine are needed

– Lining up toys instead of playing with them

– Becoming extremely focused on objects or topics

Neurodiversity refers to the differences in the way people’s brains work—there is no “correct” way for the brain to work. Instead, there is a wide range of ways that kids see and respond to the world around them. While these differences may cause symptoms or problems, they can also be embraced and encouraged. Support and treatment can help reduce symptoms that interfere with kids achieving their goals.

How is ASD diagnosed?

The variety of symptoms in Autism Spectrum Disorder (ASD) can make it hard to diagnose correctly. Sometimes children with ASD are mistakenly diagnosed with another disorder, like Attention-Deficit/Hyperactivity Disorder (ADHD) or Oppositional Defiant Disorder (ODD), or they are told that nothing is wrong. Other times kids are diagnosed with ASD when they do not actually meet the criteria.

To be diagnosed with ASD, a child must have symptoms that include both social challenges and repetitive behaviors. These symptoms must interfere with the child’s daily life. Symptoms must be present or noticed by the time the child is two years old, even if they are not obvious until the child is older. Autism can be diagnosed in kids as young as 2 years old. There are three severity levels for ASD (see table below).

Severity Levels for ASD (Table)

Level 1 “Requiring Support”

Social Communication:

Social communication problems will be noticeable without help. These may include trouble starting interactions, responding to others, or even showing a lack of interest in interacting. Attempts to make friends may seem odd or may not work.

Restricted, Repetitive Behaviors:

Rigid or inflexible thinking or behavior causes problems, such as with changing activities, in more than one place. With older children and teens, trouble with organizing and planning reduces independence.

Level 2 “Requiring Substantial Support”

Social Communication:

Even with help, there are big problems with talking, body language, and socializing. These include poor attempts to interact, interacting only when interested in a topic, odd communication, or not wanting to interact with others beyond having needs met.

Restricted, Repetitive Behaviors:

Rigid or inflexible thinking or behavior causes notable problems, such as being unable to handle changes or feeling upset when others do not follow the child’s strict demands. Restricted/repetitive behaviors are present and are often obvious to others.

Level 3 “Requiring Very Substantial Support”

Social Communication:

Even with help, talking and body language are very limited and stop the child from successfully interacting with others. The child is unlikely to start interactions with others or respond to others’ attempts to interact.

Restricted, Repetitive Behaviors:

Very severe rigid or inflexible thinking or behavior, as well as restricted/repetitive behaviors, interfere with the child’s ability to function. The child feels great distress when changes or transitions happen.

ASD is diagnosed by child psychiatrists, and the most common sources of referrals are parents, pediatricians, and nursery schoolteachers. Evaluations include looking at the child’s behaviors in different places and considering their overall development. It should include both clinician observations and parent/caregiver interviews. Additionally, comprehensive evaluations will include information about other areas of a child’s functioning across contexts. Checking a child’s thinking, motor skills, language, and adaptive functioning can provide information on the best treatments and the impact their symptoms have on their overall functioning.

Specific questionnaires may be used before a formal screening (e.g., M-CHAT) by a child psychiatrist. In addition, specific interviews and observation tests (e.g., ADOS-2, ADI-R) are used to evaluate the strengths and weaknesses of the child so that a personalized intervention can be designed.

ASD facts

Worldwide frequency of the condition:

The prevalence of ASD among school-age children and adolescents varies between studies, ranging from 1% to 2%. A recent review of European students estimated the prevalence at 1.4%.

Impact of the condition in Brazil:

Despite limited data, the estimated prevalence of ASD disorders in Brazil is close to 0.8% in children and adolescents .

Gender ratio:

Although the ratio of boys to girls with ASD is commonly said to be 4:1, a recent review suggests the actual ratio is 3:1, influenced by gender biases.

Peak age of onset:

Symptoms must be present early in the developmental period, that is, in the first years of life.

What are the associated factors for ASD?

Some common factors linked with ASD are:

– Genetic and familial factors: There is a higher risk for children with an older sibling with ASD. Other family factors include a mother’s age over 35 years and a father’s age over 45 years, as well as maternal obesity or high blood pressure.

– Complications during pregnancy: These include gestational diabetes and exposure to a medicine called valproate during pregnancy.

– Fewer than 12 months between pregnancies.

– Preterm birth.

– Complications during childbirth, such as lack of oxygen for the newborn.

Studies have shown that there is no link between vaccines and autism. Taking folic acid during pregnancy has been shown to protect against ASD.

What other disorders co-occur with ASD?

Even though each child is different, ASD might often happen with Intellectual Disability and Language Disorder. Many children with ASD might have symptoms that show multiple other mental health disorders. When a child with ASD meets the criteria for another disorder, including ADHD, Developmental Coordination Disorder, anxiety disorders, or mood disorders, each diagnosis should be added to the child’s profile.

Epilepsy is common in people with autism, especially those with Intellectual Developmental Disorder, and usually first appears in early adolescence.

How is ASD Treated?

Behavioral and psychosocial treatments have been shown to help some children and teens with ASD in areas like thinking and adaptive functioning. Starting treatment early is important because it might help the child communicate and interact better with others and give structure to parents, who often find the child’s behavior hard to manage and need a lot of support from professionals. Various interventions can help families at different levels, as described below:

– Preventing or minimizing the worsening of symptoms: Following medical advice on regular checks and managing other medical issues can help reduce mental health problems. Early intervention is a term for a package of diagnostic and therapeutic services provided to children and families with developmental disorders, earlier than 3 years of age. Starting services early can have much more impactful results in learning, behavior, and function.

– Limiting the extent of impairment in a child’s daily life: Specialized multidisciplinary services include occupational therapy, physical therapy, speech-language therapy, and family counseling. Individual, family, and group behavioral and cognitive-behavioral therapy can help improve daily life skills, as well as thinking and social skills.

– Supporting the way a child can function better and improve their overall quality of life: These interventions aim to support children and teens with ASD in their educational needs, to engage them in socializing and job training programs, and to prepare them for community integration as they grow into adults. Adults with mild and some with moderate ASD may live independent lives.

There is no medication for the symptoms of ASD. But children with autism may take medication to help with aggression or other troubling behaviors. Kids on the autism spectrum may also take medication for other disorders they may have, including anxiety, depression, or ADHD. Even though this is especially important for children with multiple diagnoses, any doctor prescribing medication should do so carefully.

References

Clinical description, symptoms, and diagnostic information

– American Psychiatric Association. (2022). Diagnostic and Statistical Manual of Mental Disorders: Fifth Edition Text Revision DSM-5-TR. American Psychiatric Association Publishing, Washington, DC.

– Child Mind Institute. (2022, March 29). Complete Guide to Autism. https://childmind.org/guide/parents-guide-to-autism/

– Lord, C., Brugha, T. S., Charman, T., Cusack, J., Dumas, G., Frazier, T., Jones, E. J. H., Jones, R. M., Pickles, A., State, M. W., Taylor, J. L., & Veenstra-VanderWeele, J. (2020). Autism spectrum disorder. Nature Reviews Disease Primers, 6(1), 5. https://doi.org/10.1038/s41572-019-0138-4

– World Health Organization. (2022, February). ICD-11 for Mortality and Morbidity Statistics. 6A02 Autism Spectrum Disorder. https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/437815624

Facts

– American Psychiatric Association. (2022). Diagnostic and Statistical Manual of Mental Disorders: Fifth Edition Text Revision DSM-5-TR. American Psychiatric Association Publishing, Washington, DC.

– Arango, C., Dragioti, E., Solmi, M., Cortese, S., Domschke, K., Murray, R. M., Jones, P. B., Uher, R., Carvalho, A. F., Reichenberg, A., Shin, J. I., Andreassen, O. A., Correll, C. U., & Fusar‐Poli, P. (2021). Risk and protective factors for mental disorders beyond genetics: An evidence‐based atlas. World Psychiatry, 20(3), 417–436. https://doi.org/10.1002/wps.20894

– Institute for Health Metrics and Evaluation (IHME). (2019). GBD Compare Data Visualization. Seattle, WA: IHME, University of Washington, Available from http://vizhub.healthdata.org/gbd-compare. (Accessed 11/15/2022)

– Kendler, K. S. (2013). What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn. Molecular Psychiatry, 18(10), 1058–1066. https://doi.org/10.1038/mp.2013.50

– Loomes, R., Hull, L., & Mandy, W. P. L. (2017). What is the male-to-female ratio in Autism Spectrum Disorder? A systematic review and meta-analysis. Journal of the American Academy of Child & Adolescent Psychiatry, 56(6), 466–474. https://doi.org/10.1016/j.jaac.2017.03.013

– Polyak, A., Rosenfeld, J. A., & Girirajan, S. (2015). An assessment of sex bias in neurodevelopmental disorders. Genome Medicine, 7(1), 94. https://doi.org/10.1186/s13073-015-0216-5

– Sacco, R., Camilleri, N., Eberhardt, J., Umla-Runge, K., & Newbury-Birch, D. (2022). A systematic review and meta-analysis on the prevalence of mental disorders among children and adolescents in Europe. European Child & Adolescent Psychiatry. https://doi.org/10.1007/s00787-022-02131-2

– Solmi, M., Radua, J., Olivola, M., Croce, E., Soardo, L., Salazar de Pablo, G., Il Shin, J., Kirkbride, J. B., Jones, P., Kim, J. H., Kim, J. Y., Carvalho, A. F., Seeman, M. V., Correll, C. U., & Fusar-Poli, P. (2022). Age at onset of mental disorders worldwide: Large-scale meta-analysis of 192 epidemiological studies. Molecular Psychiatry, 27(1), 281–295. https://doi.org/10.1038/s41380-021-01161-7

Associated factors

– American Psychiatric Association. (2022). Diagnostic and Statistical Manual of Mental Disorders: Fifth Edition Text Revision DSM-5-TR. American Psychiatric Association Publishing, Washington, DC.

– Arango, C., Dragioti, E., Solmi, M., Cortese, S., Domschke, K., Murray, R. M., Jones, P. B., Uher, R., Carvalho, A. F., Reichenberg, A., Shin, J. I., Andreassen, O. A., Correll, C. U., & Fusar‐Poli, P. (2021). Risk and protective factors for mental disorders beyond genetics: An evidence‐based atlas. World Psychiatry, 20(3), 417–436. https://doi.org/10.1002/wps.20894

– Ghirardi, L., Kuja‐Halkola, R., Butwicka, A., Martin, J., Larsson, H., D’Onofrio, B. M., Lichtenstein, P., & Taylor, M. J. (2021). Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders. Journal of Child Psychology and Psychiatry, 62(11), 1274–1284. https://doi.org/10.1111/jcpp.13508

– Hultman, C. M., Sandin, S., Levine, S. Z., Lichtenstein, P., & Reichenberg, A. (2011). Advancing paternal age and risk of autism: New evidence from a population-based study and a meta-analysis of epidemiological studies. Molecular Psychiatry, 16(12), 1203–1212. https://doi.org/10.1038/mp.2010.121

– Kendler, K. S. (2013). What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn. Molecular Psychiatry, 18(10), 1058–1066. https://doi.org/10.1038/mp.2013.50

– Qiu, S., Qiu, Y., Li, Y., & Cong, X. (2022). Genetics of autism spectrum disorder: An umbrella review of systematic reviews and meta-analyses. Translational Psychiatry, 12(1), 249. https://doi.org/10.1038/s41398-022-02009-6

– Robinson, E. B., Samocha, K. E., Kosmicki, J. A., McGrath, L., Neale, B. M., Perlis, R. H., & Daly, M. J. (2014). Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proceedings of the National Academy of Sciences, 111(42), 15161–15165. https://doi.org/10.1073/pnas.1409204111

Co-occurring disorders

– American Psychiatric Association. (2022). Diagnostic and Statistical Manual of Mental Disorders: Fifth Edition Text Revision DSM-5-TR. American Psychiatric Association Publishing, Washington, DC.

– Muskens, J. B., Velders, F. P., & Staal, W. G. (2017). Medical comorbidities in children and adolescents with autism spectrum disorders and attention deficit hyperactivity disorders: A systematic review. European Child & Adolescent Psychiatry, 26(9), 1093–1103. https://doi.org/10.1007/s00787-017-1020-0

– Mutluer, T., Aslan Genç, H., Özcan Morey, A., Yapici Eser, H., Ertinmaz, B., Can, M., & Munir, K. (2022). Population-Based Psychiatric Comorbidity in Children and Adolescents With Autism Spectrum Disorder: A Meta-Analysis. Frontiers in Psychiatry, 13, 856208. https://doi.org/10.3389/fpsyt.2022.856208

– Strasser, L., Downes, M., Kung, J., Cross, J. H., & De Haan, M. (2018). Prevalence and risk factors for autism spectrum disorder in epilepsy: A systematic review and meta-analysis. Developmental Medicine & Child Neurology, 60(1), 19–29. https://doi.org/10.1111/dmcn.13598

– van Steensel, F. J. A., Bögels, S. M., & Perrin, S. (2011). Anxiety Disorders in Children and Adolescents with Autistic Spectrum Disorders: A Meta-Analysis. Clinical Child and Family Psychology Review, 14(3), 302–317. https://doi.org/10.1007/s10567-011-0097-0

Interventions

– Correll, C. U., Cortese, S., Croatto, G., et al. (2021). Efficacy and acceptability of pharmacological, psychosocial, and brain stimulation interventions in children and adolescents with mental disorders: an umbrella review. World Psychiatry, 20(2), 244-275. https://doi.org/10.1002/wps.20881

– Hampton, L. H., & Kaiser, A. P. (2016). Intervention effects on spoken-language outcomes for children with autism: A systematic review and meta-analysis: Spoken-language outcomes for children with autism. Journal of Intellectual Disability Research, 60(5), 444–463. https://doi.org/10.1111/jir.12283

– Kulasinghe, K., Whittingham, K., Mitchell, A. E., & Boyd, R. N. (2022). Psychological interventions targeting mental health and the mother–child relationship in autism: Systematic review and meta‐analysis. Developmental Medicine & Child Neurology. https://doi.org/10.1111/dmcn.15432

– Lord, C., Brugha, T. S., Charman, T., et al. (2020). Autism spectrum disorder. Nature Reviews Disease Primers, 6(1), 5. https://doi.org/10.1038/s41572-019-0138-4

– Murza, K. A., Schwartz, J. B., Hahs-Vaughn, D. L., & Nye, C. (2016). Joint attention interventions for children with autism spectrum disorder: A systematic review and meta-analysis: Joint attention meta-analysis. International Journal of Language & Communication Disorders, 51(3), 236–251. https://doi.org/10.1111/1460-6984.12212

– Nahmias, A. S., Pellecchia, M., Stahmer, A. C., & Mandell, D. S. (2019). Effectiveness of community‐based early intervention for children with autism spectrum disorder: A meta‐analysis. Journal of Child Psychology and Psychiatry, 60(11), 1200–1209. https://doi.org/10.1111/jcpp.13073

– Siafis, S., Çıray, O., Wu, H., Schneider-Thoma, J., Bighelli, I., Kra use, M., Rodolico, A., Ceraso, A., Deste, G., Huhn, M., Fraguas, D., San José Cáceres, A., Mavridis, D., Charman, T., Murphy, D. G., Parellada, M., Arango, C., & Leucht, S. (2022). Pharmacological and dietary-supplement treatments for autism spectrum disorder: A systematic review and network meta-analysis. Molecular Autism, 13(1), 10. https://doi.org/10.1186/s13229-022-00488-4

– Tachibana, Y., Miyazaki, C., Ota, E., Mori, R., Hwang, Y., Kobayashi, E., Terasaka, A., Tang, J., & Kamio, Y. (2017). A systematic review and meta-analysis of comprehensive interventions for pre-school children with autism spectrum disorder (ASD). PLOS ONE, 12(12), e0186502. https://doi.org/10.1371/journal.pone.0186502

– Tarver, J., Palmer, M., Webb, S., Scott, S., Slonims, V., Simonoff, E., & Charman, T. (2019). Child and parent outcomes following parent interventions for child emotional and behavioral problems in autism spectrum disorders: A systematic review and meta-analysis. Autism, 23(7), 1630–1644. https://doi.org/10.1177/1362361319830042

– Ung, D., Selles, R., Small, B. J., & Storch, E. A. (2015). A Systematic Review and Meta-Analysis of Cognitive-Behavioral Therapy for Anxiety in Youth with High-Functioning Autism Spectrum Disorders. Child Psychiatry & Human Development, 46(4), 533–547. https://doi.org/10.1007/s10578-014-0494-y

– Wichers, R. H., van der Wouw, L. C., Brouwer, M. E., Lok, A., & Bockting, C. L. H. (2023). Psychotherapy for co-occurring symptoms of depression, anxiety and obsessive-compulsive disorder in children and adults with autism spectrum disorder: A systematic review and meta-analysis. Psychological Medicine, 53(1), 17–33. https://doi.org/10.1017/S0033291722003415