How To Detect Autism

Learn how to detect autism in infants using early screening tools and understanding behavioral indicators.

judah schiller
Judah Schiller
June 18, 2024
Published On
June 18, 2024

Detecting Autism in Children

Unraveling the mystery of autism begins with understanding the importance of early detection and the guidelines set forth for developmental monitoring. The early identification of autism spectrum disorder (ASD) can greatly improve a child's growth and development.

Importance of Early Screening

Early screening for autism is fundamental in providing timely intervention and support for children diagnosed with ASD. According to the American Academy of Pediatrics (AAP), all children should be screened for autism at ages 18 months and 24 months. This is in addition to developmental and behavioral screenings during regular well-child visits at 9 months, 18 months, and 30 months. By the age of 2, an ASD diagnosis by an experienced professional can be considered reliable.

The importance of early screening cannot be overstated. It is the first step in identifying potential signs of autism, allowing for early intervention. This can significantly improve a child's developmental trajectory and quality of life.

Developmental Monitoring Guidelines

Developmental monitoring involves routine checks for developmental and behavioral progress during well-child visits. Health care providers diagnose autism spectrum disorder (ASD) by looking for certain symptoms or groups of symptoms. Routine developmental screenings are conducted at every well-baby and well-child visit, and the American Academy of Pediatrics recommends ASD-specific tools to assess development at the 18-month and 24-month visits regardless of risk factors for ASD.

The American Academy of Pediatrics (AAP), suggests that autism screenings should be part of standard 18 and 24-month well-child checkups. However, the National Center on Birth Defects and Developmental Disabilities (NCBDD) recommends that all children be screened at 9, 18, and 24 or 30 months.

Autism screening is usually carried out by a pediatrician during a routine well-child checkup. The process involves identifying early signs of autism, which may include observing the child or asking questions about behaviors at home and while interacting with others.

Physicians use a wide array of formal and informal autism screening tools, ranging from simple observations to formal assessments, to determine if a child shows signs of autism. If necessary, this can lead to a referral for a formal evaluation [2].

In conclusion, early detection of autism is vital for providing the right support to children and their families. The guidelines for developmental monitoring serve as a roadmap for health care providers and parents to ensure timely intervention and support. It's important to remember that every child develops at their own pace, and these guidelines are just that - guidelines. Always consult with a healthcare professional if there are concerns about a child's development.

Factors Influencing Autism

In our quest to understand how to detect autism, it's important to delve into the factors that influence the development of Autism Spectrum Disorder (ASD). These factors encompass both genetic contributions and environmental influences, giving us a comprehensive view of the elements at play.

Genetic Contributions

Over the last few decades, there has been a significant increase in autism genetics research. In fact, a 2019 study estimated ASD’s heritability to be approximately 80% based on research of more than 2 million people across five countries [3].

Genetic factors play an undeniable role in Autism Spectrum Disorder (ASD), with family and twin studies indicating that approximately 10% of children diagnosed with ASD have other genetic or neurological disorders. Interestingly, monozygotic twins have a 60-90% concordance rate for autism, while dizygotic twins have a 0-24% concordance rate.

Mutations in synaptic genes, such as neuroligins (NLGN4X and NLGN3), SHANK2, SHANK3, and neurexin 1 (NRXN1), are common genetic abnormalities associated with ASD. Dysfunction in synaptic plasticity due to protein-protein interactions between NLGN, SHANK, and NRXN synaptic genes is considered a contributing factor to ASD.

Environmental Influences

Aside from the genetic aspects, environmental factors also contribute to the development of ASD. These include exposure to certain infections or medications during pregnancy, very low birth weight, maternal obesity, and older parental age at the time of conception. Researchers continue to study these factors to further comprehend their potential influence on developing autism [3].

It is noteworthy that global autism rates vary significantly across countries, diagnostic tools, cultures, and socioeconomic groups, ranging from 0.3/100 in Southeast Asia to 2/100 in the Western Pacific and 1/36 in the USA. Data from national databases and studies examining the prevalence of autism in the United States, the United Kingdom, Denmark, and Sweden indicate a significant increase in autism prevalence rates over the past decade.

Understanding these genetic and environmental influences can be instrumental in early detection, thus facilitating timely interventions and support for those diagnosed with ASD.

Screening and Diagnostic Tools

Identifying autism spectrum disorder (ASD) as early as possible is critical. Several tools and methods are available to assist healthcare providers in this process.

Common Screening Tools

Healthcare providers diagnose autism spectrum disorder (ASD) by looking for certain symptoms or groups of symptoms. Routine developmental screenings are conducted at every well-baby and well-child visit, and the American Academy of Pediatrics recommends ASD-specific tools to assess development at the 18-month and 24-month visits regardless of risk factors for ASD.

Specialized screening tests for ASD, such as the Checklist of Autism in Toddlers (CHAT) or the Modified Checklist for Autism in Toddlers (M-CHAT), may be used by health care providers. Additionally, a blood test may be recommended to rule out other conditions and problems [1].

Diagnostic Criteria Updates

The diagnostic criteria for ASD were updated in May 2013 by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). To be diagnosed with ASD, a child must have had symptoms since an early age.

The Autism Diagnostic Observation Schedule (ADOS-2) is a tool used to diagnose autism that fits the revised DSM-5 criteria. However, it is not the only tool used, and existing diagnostic tools are being modified to better align with the new criteria.

Specialized Diagnostic Assessments

In addition to the aforementioned tools, healthcare providers may conduct specialized diagnostic assessments. The Autism Diagnostic Observation Schedule (ADOS-2) is one of such tools. Specialists interact directly with children during an ADOS-2 assessment, observing their responses in social and play activities to identify specific characteristics of ASD.

The diagnosis also involves noting other conditions like seizures, hearing problems, muscle strength, and movement control. This comprehensive approach allows for a more accurate diagnosis and helps tailor the treatment plan to the child's specific needs.

By understanding these various screening and diagnostic tools, one can gain a clearer understanding of how to detect autism in children. Early diagnosis and intervention can significantly improve the quality of life for children with ASD and their families.

Behavioral Indicators of Autism

Behavioral indicators are among the most reliable cues in detecting autism. Observing a child's interactions, language development, and sudden shifts in their behavior can play a significant role in early detection of autism spectrum disorder (ASD).

Social Interaction Delays

Children on the autism spectrum usually exhibit delays in joint attention skills, crucial for social and communication development. These delays affect their ability to engage in reciprocal social interactions. For instance, most children can point to out-of-reach objects they want by 12 months of age, while a child on the autism spectrum may instead lead a parent to the object without making eye contact or place the parent's hand onto the object itself instead of pointing.

Language Development Signs

Apart from social interaction delays, children on the autism spectrum often exhibit delays in nonverbal communication and spoken language. For example, they may use labels for objects but not to ask for things, repeat what they hear for an extended period, or talk more like an adult than a toddler. Such signs can indicate possible language development issues associated with autism [6].

Regression in Skills

Another significant behavioral indicator of autism is the regression in already developed skills. Approximately 25% of children later diagnosed with autism spectrum disorder may experience a regression in language skills between the ages of 15 and 24 months. They may suddenly or gradually stop using language they had developed and become more socially withdrawn.

It's important to note that these are only potential signs of autism, and children demonstrating these behaviors do not necessarily have ASD. However, if parents have concerns about their child's behavior, speech, or development, it's advised they consult with a pediatrician for screening and early intervention. Early detection and support can significantly impact a child's development [6].

Diagnosis Process and Support

In the journey of understanding how to detect autism, the diagnosis process and the subsequent support are vital steps that can significantly influence the course of the child's development and well-being.

Physician Diagnosis Process

Health care providers diagnose autism spectrum disorder (ASD) by looking for certain symptoms or groups of symptoms. Routine developmental screenings are conducted at every well-baby and well-child visit, with the American Academy of Pediatrics recommending ASD-specific tools to assess development at the 18-month and 24-month visits regardless of risk factors for ASD [1].

A specialist, usually a developmental pediatrician, child neurologist, or child psychologist, can make an official diagnosis of autism based on the criteria described in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) published by the American Psychiatric Association. The DSM-5 criteria for autism spectrum disorder include cases where signs appeared in early childhood, even if they were not recognized until later [7].

Treatment Coordination

After a diagnosis of autism, a specialist will coordinate a healthcare team to assess and recommend treatment options. This team may include therapists, psychologists, and educators, all working together to create a comprehensive treatment plan tailored to the child's unique needs. The goal is to help the child develop to their fullest potential by targeting ASD symptoms and supporting healthy development.

Ongoing Assessment Benefits

Ongoing assessments for autism are highly recommended to guide treatment choices throughout the child's lifetime. These regular check-ups are crucial as they monitor the effectiveness of the current treatment plan and make necessary modifications to ensure optimal results. They also provide an opportunity to identify and address any new symptoms or challenges that may arise as the child grows and matures.

The DSM-5 defines autism spectrum disorder as a central diagnosis given to a continuum of complex conditions and no longer includes the subtypes that were previously diagnosed under pervasive developmental disorders. Therefore, the severity and support needed for each case may vary significantly, making ongoing assessments a crucial part of the process.

In conclusion, the process of detecting autism in infants and young children is multi-faceted, with a focus on early identification, comprehensive diagnosis, coordinated treatment, and ongoing assessments. These steps ensure that children with ASD receive the support they need to thrive.

Advancements in Autism Detection

The field of autism detection has seen significant advancements in recent years, with a focus on early detection and intervention. Among these advancements are biomarker-based technologies and the introduction of the EarliPoint™ Evaluation tool.

Biomarker-Based Technology

Biomarker-based technology has been a significant stride forward in the detection of autism. This technology uses biological markers, or biomarkers, to identify and assess the risk of developing autism. These markers could be anything from genetic anomalies to specific physical traits or behavioral patterns. The use of such technology has been a key factor in improving the accuracy and efficiency of autism diagnosis.

EarliPoint Evaluation Tool

The Marcus Autism Center, part of Children's Healthcare of Atlanta, has developed a groundbreaking diagnostic technology called the EarliPoint™ Evaluation tool. This tool, the first of its kind to be authorized by the FDA, uses eye-tracking technology to aid in the diagnosis and assessment of autism in children between 16 and 30 months of age [8].

The EarliPoint™ Evaluation tool measures children’s looking behavior, providing clinicians with objective measurements of each child’s strengths and vulnerabilities. It has been shown to predict expert clinician assessments with a high degree of accuracy. Moreover, the tool has significantly reduced the time required for an accurate autism diagnosis, from multiple hours of clinician assessment to as little as 12 minutes of objective measurements.

Recently FDA-authorized for the second generation, the EarliPoint™ Evaluation tool is small, portable, and accessible for clinicians to use in an office setting. This allows for earlier, more equitable, and more efficient identification and treatment for Autism Spectrum Disorder (ASD) [8].

Impact of Early Diagnosis

Early diagnosis of autism has been a central research theme in recent years, as evidenced by a study published by the NCBI [5]. Early diagnosis and intervention can greatly improve the quality of life for individuals with autism and their families. With the aid of advancements like biomarker-based technology and the EarliPoint™ Evaluation tool, early detection of autism is becoming more accessible and accurate. This progress not only helps individuals with autism receive the support and interventions they need but also contributes to a better understanding of autism.