Autism Spectrum Disorder Signs, Causes and Treatments

Autism Spectrum Disorder (ASD) is a neurodevelopmental difference or disability. It shows up in childhood with limited or atypical social interactions; limited, nonverbal communication; and difficulty with initiating or maintaining social relationships. Children with autism also have repetitive and restrictive interests or behaviors, which may include toe walking, spinning, stacking or lining up toys, difficulty tolerating change, attachment to everyday objects, and/or picky eating.

What are early signs of autism?

Common early social signs of autism may include:

• Absent or limited eye contact
• Delayed or lack of response to their name by 9 months of age
• Limited or muted facial expressions
• Lack of play in simple interactive games by age 1, like pat-a-cake
• Lack of use of simple gestures by age 1, such waving “bye.”
• Limited shared interest by 15 months of age, such as not yet showing a new toy to a caregiver
• Lack of pointing to show you something interesting by 18 months of age.
• Lack of noticing when others are sad or hurt by 2 years of age.
• Lack of noticing other children and joining them in play by 3 years of age

Importantly, ASD impacts all children to different degrees and will present uniquely in each child. The majority of children are diagnosed to be autistic before 3 years of age.

What is the strongest cause of autism?

Autism has a multifactorial origin. Potential early risk factors for ASD have been identified such as preterm birth, maternal infection in pregnancy, gestational diabetes, twin pregnancies, and advanced parental or maternal age. However, the most identifiable cause of autism is genetic. The cause of a child’s autism can often be discovered with specialized genetic testing.

There are currently more than 800 genetic mutations known to be associated with autism. Genetic mutations may be identified on an autism-specific gene panel, chromosomal microarray analysis (CMA) or Fragile X testing, as well as Whole Exome Sequencing (entire coding DNA testing) or Whole Genome Sequencing (entire coding and noncoding DNA testing). 

A variety of identified genes are important in brain development. Therefore, a genetic evaluation is recommended to be offered to all families as part of the workup of autism by the American Academy of Pediatrics.

Additionally, worldwide scientific research does not support an association of vaccination with increase in risk of ASD. Children with ASD should be vaccinated according to the recommended American Academy of Pediatrics schedule.

Who is affected by autism?

According to recent CDC (Centers for Disease Control and Prevention) data, 1 in 31 (3.2%) children have been identified with ASD before the age of 8 years in the United States. Autism is more prevalent in boys than girls, with three times as many boys affected than girls. The rate of ASD in siblings is much higher than the rate seen in the general population.

What are the screening guidelines for autism?

The American Academy of Pediatrics recommends developmental surveillance of all children for signs of ASD at every visit. Developmental surveillance may include asking caregivers about concerns regarding their child’s development or behavior, informal observation, and monitoring.

Screening for autism at 18 and 24 months of age is recommended with a standardized autism-specific screening test, such as the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R). The M-CHAT-R is a screener that asks a series of questions to caregivers that is focused on identifying children at higher risk for autism. Early screening and identification of ASD in toddlers is essential given the positive impact of early interventions.

Should concern arise for ASD in pediatric visits, referral for in-depth evaluation and diagnosis with a developmental behavioral pediatrician, clinical psychologist, neurologist, psychiatrist or other neurodevelopmental specialist is recommended. Timely referral to early interventions, such as speech therapy and occupational therapy, and school-based services is also strongly advised.

What is the best treatment for autism?

Currently there is no medication, specialized diet, dietary supplement, or biologic intervention to “treat” the core symptoms of autism. Autism is a developmental difference that results in a unique way of learning and processing. Recommended interventions aim at individualized instruction to allow coaching and practice in areas of developmental deficits.

Additionally, recommended and evidence-based interventions for ASD currently aim at improving daily functioning and quality of life. Effective intervention focuses on therapies that teach and practice skills needed for a child’s wellness and independence in life, such as communication, feeding or toileting. Interventions are best individualized to each child’s unique needs.

A key intervention for autistic children is Applied Behavioral Analysis or ABA therapy. ABA therapy can teach communication skills, social skills and cognitive (thinking) skills. Behavior modification in ABA therapy can also be useful in reducing or eliminating maladaptive behaviors, such as poor eating, self-aggression, or aggression towards others.

ABA success has been described in many peer-reviewed, scientific articles. People who have autism will likely receive some degree of benefit from ABA. However, intensive behavior therapy during early childhood and home-based approaches that involve parents are considered to produce the best results.

Special education programs are also recommended that are highly structured and focus on developing speech, language, social skills, self-care and job skills.

The Michael R. Boh Center for Child Development helps children overcome challenges, develop their unique talents and reach their full potential. Learn more.

Note: Autistic, autism, and autism spectrum disorder (ASD) were used interchangeably in this article to foster inclusivity.