Autism Spectrum Disorder Overview: Symptoms and Causes

Autism is one of the most mysterious and confusing disorders facing families and clinicians today and unfortunately the prevalence is growing at an alarming rate. Although diagnostic criteria are established in the Diagnostic and Statistical Manual of Mental Disorders (DSM), the handbook used by health care professionals in the United States to assist in the diagnosis of mental disorders, diagnosing autism is often a complicated process.

We know that autism is about 4.5 times more likely to affect boys than girls and is found in all racial, ethnic, and social groups. We also know that there is no known single cause for autism, although the best available science points to important genetic components.

Given the complexity of the disorder and the challenges of diagnosing autism, many parents understandably question whether their child is, in fact, on the autism spectrum, or whether their child’s behavior reflects signs of ADHD or perhaps some type of undiagnosable “quirkiness”. When asked about their child’s behavior, many parents admit that their child is “different,” but that he or she is able to maintain friendships, is fully verbal, and does not demonstrate any of the tell-tale signs of the disorder such as hand-flapping or toe-walking. What is clear, however, is that many parents and teachers, and even clinicians, find the criteria for diagnosis to be challenging, and somewhat subjective, especially if the signs are subtle.

Most of the public, including many professionals in the medical, educational, and vocational fields, are still unaware of how autism affects people and how they can effectively work with individuals with autism. Contrary to popular understanding, many children and adults with autism may make eye contact, show affection, smile and laugh, and demonstrate a variety of other emotions, although in varying degrees. Like other children, they respond to their environment in both positive and negative ways.

Autism is a spectrum disorder, currently known as autism spectrum disorder (ASD). The symptoms and characteristics of autism can present themselves in a wide variety of combinations, from mild to severe. Although autism is defined by a certain set of behaviors in three primary diagnostic categories: communication problems, social deficiencies, and evidence of self-stimulatory behaviors—children and adults can exhibit any combination of the behaviors in any degree of severity. Two children, both with the same diagnosis, can act very differently from one another and have varying skills.

Launched in 2000 by the Centers for Disease Control and Prevention (CDC), the Autism and Developmental Disabilities Monitoring (ADDM) Network was formed to survey and track autism in 8-year-olds in multiple communities in the US. There ADDM Network follows more than 300,000 children from 16 sites in areas of the following states: Alabama, Arizona, Arkansas, Colorado, Florida, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Pennsylvania, South Carolina, Tennessee, Utah, West Virginia, and Wisconsin.

In the last 14 years, the prevalence of autism has gone from 1 in 150 children in the year 2000 to 1 in 59 in 2014 and experts can't pinpoint the reason for the increase. Below is a chart detailing findings from 2014 data collected by the ADDM Network:

Autism has been documented dating back to the 1940s by Drs. Leo Kanner and Karl “Hans” Asperger, and is considered a neurodevelopmental disorder in the sense that there seems to be an underlying neurological compromise that impacts a child’s developmental levels of functioning. The condition is typically self-evident. A child on the autism spectrum scale can be likened to a computer with a virus that results in glitchy and/or halting processing. The child has erratic behavior and speech, expresses repetitive and irrelevant phrases; movement lacks fluidity, has fixations and perseverations; and may seem socially disinterested due to an introverted preoccupation.

The condition impacts all aspects of functioning including thinking, speech, language, daily life, ability/willingness to follow directions, and social skills. Children who have been diagnosed often struggle with fine and gross motor skills, the ability to care for themselves, and general judgment.

More often than not, children with autism are loving, affectionate, and empathic (to one degree or another), especially with their family members. These children are not typically mentally disabled. They are usually intelligent, but unfortunately, their language deficits often interfere with learning.

There is no known single cause for autism, but it is generally accepted to be caused by abnormalities in brain structure or function. Researchers are investigating a number of theories, including the link between heredity, genetics, and medical problems. The list of potential causes and risk factors run the gamut from a mother’s lack of nurturance or affection to concerns about vaccines, a father’s advanced age, and dozens of other speculations, none of which have been confirmed.

Whatever the cause, it is clear that children with autism are born with the disorder or born with the potential to develop it. It is not caused by bad parenting. Autism is not a mental illness. Children with autism are not unruly kids who choose not to behave. Furthermore, no known psychological factors in the development of the child have been shown to cause autism.

The terms used to describe and diagnose autism have changed over the course of time. In the diagnostic manual used prior to 2013, the classically assigned term of autism (formerly diagnosed as Autistic Disorder), and Asperger’s Disorder were delineated, in addition to Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS), which reflects milder but notable signs compared to the other conditions. These three diagnoses, respectively, were the three most commonly-diagnosed autism conditions at the time. In addition, there was Rett’s, and Childhood Disintegration Disorder.

Rett’s Syndrome Disorder

is a condition only seen in females that manifests after an apparently ‘normal’ first six months of development after which the child loses coordination and speech. Symptoms then stabilize in the following years. The condition is genetic in nature and requires a subsequent medical diagnosis after the appropriate tests are completed.

Childhood Disintegrative Disorder

is a developmental disorder characterized by two years of normal development followed by a disintegration of motor, language, and social skills. Initially, it was believed there were medical underpinnings but apparently, there is no known cause of the disorder.

As of May 2013, upon the publication of the DSM-V (fifth edition), there is now only one diagnosis for autism—autism spectrum disorder (ASD). All the former diagnoses now fall under the ASD classification, and specifiers are utilized to differentiate those who have issues with language or intellect, which helps to reflect milder vs more severe conditions. Specifiers also differentiate those conditions that have an underlying medical component, such as Rett’s.

Parents of children with autism typically notice some troubling signs early on in their child’s life. When I talk with parents, they convey that, as early as infancy, their child was not cuddly, did not gaze into their eyes, and was almost ‘too good’ in terms of being calm and sedate. Later, parents report that their child was delayed in reaching developmental milestones in terms of walking and speech.

They also report that their child spoke in a peculiar manner (repeating words and phrases over and over in an unusual fashion). A host of other behaviors may surface including toe-walking, disinterest in playing with peers or playing in an intrusive manner, hand-flapping when excited, a tendency to be overly emotional and dramatic, hopping, fascination with lights, spinning in circles, and experiencing any number of sensory issues.

As the child ages, parents begin to realize there are other behavior ‘differences’ compared to the child's peers and have difficulty keeping up in terms of acceptable social behaviors. Parents tend to notice their children are not in-tune with typical social expectations such as why it’s expected that they go to school, pay attention, be nice to the teacher, or complete homework.

According to autismspeaks.org, some autism-associated development delays can appear and be diagnosed as early as 18 months but many children aren't diagnosed until they are 5-years-old typically when the behavior in a school setting becomes problematic or the pediatrician notices symptoms and refers the family to a specialist. The good news is research shows that early intervention leads to positive outcomes later in life for people with autism.

Autism is diagnosed via a comprehensive evaluation from a psychologist, psychiatrist, or developmental pediatrician. There is no ‘test’, medical workup, or blood test to diagnose autism but, rather an evaluation that includes a thorough developmental history, a full mental status examination including an evaluation of developmental levels of functioning, specific behavioral protocols such as the Gilliam Autism Rating Scale, and then developing a comprehensive report and treatment plan.

The three primary targeted areas assessed during the diagnostic process include:

• Deficiencies in social skills

• Lack of ability to effectively communicate, both verbally and nonverbally

• Evidence of what’s referred to as self-stimulatory behavior (hand-flapping, toe-walking, lining-up objects).

Diagnosing autism is typically straight-forward given the overt nature of the signs, but it can be somewhat more challenging when it comes to diagnosing milder forms. Children with milder forms of the disorder often have a subtle but notable social awkwardness—the child may be quite social and engaging but their manner, affect, and sometimes even posture has a rigid if not mildly robotic quality.

It’s interesting to note that, in many circumstances, especially in the younger ages, these children may have lots of friends. Despite being somewhat quirky, they can be well-accepted by peers in spite of the differences. Parents may not be aware of the way other children perceive their child. Social issues often become more of a challenge in later grades when peers are less forgiving.

Read This Next: Is Autism Genetic?

Almost invariably, these children have a distinct and notable classic autism speech cadence, i.e. a robotic and mechanical rhythm to their speech. Also, while they can participate in conversation, they tend to ramble, are too detail-oriented, and not especially mindful of the need for others to contribute to the conversation—the natural back and forth of chatter.

Children with mild autism are less likely to show outward signs such as overtly hand-flapping, toe-walking, or spinning. They may demonstrate those behaviors but, if they do, they are likely to be diagnosed without confusion or misdiagnosis. In that respect, it’s difficult to miss such blatant signs. However, more often, children with mild symptoms do not demonstrate those classic signs of autism but, rather, are obsessive; they tend to fixate on a particular interest, fear, need for reassurance, or change in routine. They may also be quite particular (everything needs to be in a particular place) and are routine-oriented, rule-oriented, and sensory sensitive. Though they tend to be socially awkward, they can be social and have friends.

Diagnostic Criteria for Mild Autism

A diagnosis cannot be made unless the signs and symptoms are actually causing problems, which is where history and parent-report come into play. Parents are instrumental in providing the details about what can appear to be only minor social awkwardness in the office but in the real-world, manifests in the child being notably alienated. What looks like minor rigidity in the office may, in actuality, be causing significant problems with routines and compulsions that must be played-out to precision to avoid a tantrum, and on and on it goes. A number of diagnostic instruments rely heavily on direct observation of the child in the clinic setting. The short-coming of such measures is that they target what is happening in the office between the child and the practitioner, but that’s just one piece of the puzzle. Consequently, a diagnosis is established via a comprehensive assessment, not on one single test.

Since parents see their children daily, their peculiar behaviors and tendencies become mundane and not so peculiar. Also, it’s easy for parents to explain-away these behaviors and find alternative rationales. Consequently, it’s quite dismaying for parents who are often annoyed, confused, and understandably skeptical when provided different diagnoses about their child by different practitioners. It’s vital for parents to obtain a very thorough evaluation of their child, with a detailed history and understanding of the child’s current behavior, and for parents to receive a thorough explanation regarding the results.

One of the biggest challenges is the most effective form of treatment. The choices seem endless and differentiating one from another can be daunting. Parents often rely on therapists to direct and administer treatment, but many parents want to learn as much as possible so they’re in the best position to help their child. The most common treatments include applied behavioral analysis, relationship building strategies, speech/language, and occupational therapy, counseling, and social skills groups.

There are two primary camps when it comes to treatment. One focuses on helping the parent and child build their relationship—working on making the parent ‘center-stage’ in the child’s world, ‘joining’ with the child, essentially becoming an integral part of the child’s sphere of interest. The other camp focuses on helping the child learn the basics and develop specific skill-sets such as mimicking, labeling, following simple directives, increasing attention to task, being able to request the desired item, and expressing short phrases.

Applied behavioral analysis (ABA) is considered ‘best-practice’ or the standard of care when it comes to treating autism. However, it’s important to note that ABA is a systematic approach to developing and implementing treatment methods, not a specific strategy. In fact, ABA is often confused with a specific and effective approach referred to as Discrete Trial Teaching (DTT).

Autism and ADHD often go hand in hand. Medications to help ADHD symptoms may be prescribed. Anxiety from constant worry is a problem for children with ASD. Medication (typically selective serotonin reuptake inhibitors, SSRIs) can be a helpful way to combat these symptoms, too.

Skill Developing Programming, Table Time

DTT is a specific approach, based in ABA, used to teach specific skills including mimicking, labeling, requesting, categorizing, and the beginning of conversational skills among other things. This approach is structured, systematic, regimented, and most often done at a table (sometimes referred to as ‘table-time’).

Relationship Developing Programming

Some of the more popular commercial programs that focus on building relationships include Relationship Development Intervention (RDI); Greenspan’s FloorTime; The Son-Rise program; and the Early Start Denver Model. There are other options including the aforementioned traditional outpatient counseling, and social skills groups, but the former programs tend to be the more well-known of the publicized commercial models.

These programs are free-flowing and in-the-moment, designed to build the relationship between the parent and the child. These types of approaches are especially important given that a primary sign of autism is an aloof quality and a general lack of social engagement. Everyday events and routines such as getting dressed, eating a meal, changing a diaper, clean-up, reading a story, playing with a toy, are leveraged to become relationship-building activities that place the parent front and center in the endeavor and in the child’s life. This is especially important as a primary concern of many parents is not being able to properly engage with their child.

Relationship-Builders vs DTT

There is limited research to suggest one relationship-builder is better than the other and, it seems, they all have similar goals but achieve them in slightly different ways.

In reality, one program or approach is not likely “better” than the other, they’re just different. It’s comparing apples to oranges. However, it should be noted that the only modality that is genuinely research-backed and evidenced-based is ABA and, more specifically, DTT. Nevertheless, the best approach is to use both. In that respect, the relationship-building techniques can be done at any time throughout the day. DTT can also be carried out at any time and in a play-oriented manner, but it’s most often conducted more formally (“table-time”). An ideal approach may be to carry-out sessions of discrete trial drills to teach specific skills and use relationship-building (“joining”) activities throughout the day when carrying out daily tasks.

There is an approach that combines both: Pivotal Response Teaching (PRT) is essentially an off-shoot of DTT in that it uses differential reinforcement protocols to teach specific skills to develop the relationship. It’s a fun approach that is structured and regimented, as would be expected from any program based in DTT, but also child-centered, free-flowing, and naturalistic.

In Summary

Autism Spectrum Disorder has been chronicled, in one form or another, for almost the past century, but has remained challenging to diagnose and treat given the range of the spectrum, lack of known etiology, and few known effective treatment options. The condition is known for social aloofness, repetitive speech, and classic self-stimulatory behaviors.

Despite the notable signs and symptoms, a clear diagnosis can be elusive, which can prove to be frustrating for parents. A comprehensive evaluation with a licensed and experienced psychologist, psychiatrist, or developmental pediatrician is vital and, with early diagnosis, the prognosis is vastly improved. The array of treatment options can also be challenging given the lack of clear research supporting one approach over another with the exception of ABA, which is often considered to be the standard of care for autism. However, there are a host of other treatment options and a multi-faceted approach often proves most effectual.