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Diagnosing Autism

by Kellie Murphy, Ph.D.

The Facts

Autism Spectrum Disorder (ASD) is the most common developmental disability in the United States, affecting 1 in 54 children as of the most recently published CDC data from 2016. These are four to five times more commonly diagnosed in boys than in girls. There is no single identified cause of autism. Only a small number of cases are linked to any known genetic or prenatal cause, although many children with autism have a family history of other learning or attention disorders, emotional or behavior disorders, and autoimmune or inflammatory disorders. Sometimes parents identify environmental triggers, including bacterial, viral, or fungal infections; high fevers; exposures to neurotoxins; or a possible vaccine injury. However, in many cases, there is no identifiable cause or trigger. While researchers continue to look for causes, parents have no time to waste and must focus their attention on education and treatment.

Research has shown that early diagnosis and intensive intervention are often keys to successful outcomes for these children. Infants as young as six months can show the earliest autism spectrum features, especially when there is a family history of ASD. In our office, developmental screenings can be done with infants, although the Autism Diagnostic Observation Schedule (ADOS-2) is not usually administered until at least 18 months. In milder ASD cases where language milestones were on time, diagnosis may not come until a child is school-aged or older and showing problems with social interaction with peers. The child may have also received other diagnoses first, including an auditory processing disorder, ADHD, anxiety disorders, sensory integration disorders, pragmatic language disorder, selective mutism, hypotonia, developmental coordination disorder, or developmental delays. However, parents of children with ASD are often quite savvy and suspected all along that there was more going on than these earlier diagnoses suggested.

A diagnosis of an autism spectrum disorder requires the following:

(1) Problems with social communication and social interaction

(2) Restricted patterns of behavior, interests, or activities or atypical sensory reactions

Social Communication

Children with ASD have differences in the way they communicate. These can range from the most severe impairments for nonverbal children to milder impairments in social conversation skills for higher functioning children. Verbal children may have a tendency to repeat back what is said to them or may memorize and repeatedly recite lines from favorite videos. They may reserve communicative speech for when they really want something and use as little speech as possible to get their needs met. They may also fail to acquire typical gestures like pointing and waving, and they may have difficulty making or sustaining eye contact. Some children with autism spectrum disorders can actually have well-developed vocabulary skills and may be hyper-verbal at times. However, they may show an overly formal way of speaking and a tendency to talk excessively about their own interests. They may not think to ask questions about others, and they may not read nonverbal cues very well. These individuals may have other atypical features of their speech, including halting or stammering speech, overly monotone or animated/sing-song speech, problems with volume or rate, or a tendency to overuse certain phrases.

From an early age, there are some differences in the social behavior of children with ASD compared to typical children. While they may be very loving and attached to their parents, the social difficulties are often noticeable when they are with other same-aged children. These children are often most comfortable engaging in solitary activities or with adults rather than with peers. They may not think to show items or share experiences with others. They may tend to engage in categorizing and lining up of toys rather than pretend play, and they may tend to be collectors of toys or items even at an early age. They may restrict their social play to times when they can choose the game or activity and want to quit playing if others do not want to follow their lead. For this reason, they tend to struggle with team sports and activities. Their preferred activities may include computer, video games, and favorite videos rather than social play with others. As they get older, individuals with ASD struggle with team-based activities and work. Their difficulties reading social cues may lead them to avoid interactions or require excessive guidance to get through tasks. As they become more aware of their social difficulties, they may develop secondary anxiety, anger, or depression if not given help and support.

Behavioral and Sensory Processing

Probably the most well-known autism spectrum features are the behavioral and sensory difficulties associated with the disorders. The most observable autistic behaviors include toe walking, hand flapping, finger movements, squealing noises, repetitive jumping or bouncing (especially when excited in front of television), rocking, pacing, darting, and spinning self or objects. Some individuals may be very sensitive to sound, lights, smells, tastes, or textures and may become overwhelmed and upset in overstimulating environments. Others may seek out heightened sensory experiences and enjoy lots of noise and movement. These symptoms are often referred to as self-stimulatory activities or "stimming" by many parents of children with ASD. Milder examples include lining up or sorting toys excessively, talking repetitively about particular topics, and rigidly adhering to certain daily life routines.

Getting Started

Deciding to seek an autism spectrum evaluation is one of the most terrifying steps a parent can take. However, the evaluation and diagnosis are absolutely necessary to give the child the best chance for improvement. Parents must be brave and trust their instincts in moving ahead with an evaluation.

Even though early diagnosis is ideal, it is never too late to seek an evaluation for a child or adult who is showing the features of an autism spectrum disorder. The ADOS has multiple modules or levels based on the expressive language and developmental level of the person being tested. In addition to the ADOS, the Autism Diagnostic Interview-Revised (ADI-R) is a structured interview done with parents or caregivers to gain a better understanding of the individual's history. We also often include parent and teacher ratings of autism spectrum features.

Autism spectrum diagnoses can be given by psychologists, developmental pediatricians, psychiatrists, or neurologists. Each type of professional brings a unique perspective to the diagnostic process. However, the accuracy of the diagnosis is improved when it is based on results of multiple psychological tests. In order to qualify for special education, disability, or Medicaid-based services, standardized testing by a licensed psychologist and written documentation of the disorder is also usually required. At this time, the ADOS-2 and ADI-R are considered the gold standard tests for an autism spectrum disorder within the research literature. It is important for parents to ask professionals whether they offer these tests as a part of the diagnostic process.

 

After Diagnosis

After the diagnosis, individuals with ASD and their families need help sorting through all of the treatment options and adjusting to the changes that the diagnosis brings to their lives. Behavioral, developmental, educational, medical, nutritional, and alternative/complementary medicine approaches are discussed to help with individualized treatment planning. We also offer ongoing support to families as their child's needs change over time.

For more information about these disorders, assessment, diagnoses, or treatments, email Dr. Murphy at 

dr.kellie.murphy@bia.com.

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