Autism Spectrum Disorder: What Every Parent Needs to Know

Yu

CHAPTER 1

What Is Autism Spectrum Disorder?

AS A PEDIATRICIAN whose son has autism spectrum disorder (ASD), I know all too well about the difficult emotions that often surround a diagnosis of ASD. My son was diagnosed as having ASD in 2004 at the age of 24 months. Before the diagnosis, we were concerned about his development, beginning in infancy. At times he seemed uncomfortable with symptoms of acid reflux, and at other times he was extremely quiet and hard to engage. While he has always made forward progress, he reached his developmental milestones later than other children. For example, as a young toddler, he had difficulty using gestures, such as pointing, to tell us what he wanted, and he didn’t begin to talk until he was 24 months old.

While getting the diagnosis was painful, it ultimately helped me better understand him. It also began the process of knowing how to help him reach his potential.

Although his mother and I are pediatricians, it was difficult to adjust our expectations, just like any parents. At first, I thought about the things I did with my father that my son and I might not be able to do, such as playing sports. I later realized that although some things are challenging for him, there are many things we do together that bring us both much joy. I have learned during this journey that parenting a child on the autism spectrum is not better or worse than parenting any other child. It is simply different. My son has helped me appreciate and enjoy those differences.

We have always focused on what our son can do and not on what he can’t. Along the way, we have tried to obtain the best therapies possible that allow him to reach even higher. As scientists, we had known that the best evidence-based therapy available for children with ASD is behavioral therapy, so we began his behavioral therapy program while he was very young. In addition to trying intensive behavioral therapy, we were open to trying complementary and alternative therapies as long as they were safe. After doing some research, we tried a few different nutritional supplements and the gluten-free/casein-free diet, understanding that there was limited evidence that these treatments would help reduce the symptoms of autism. After some time, we concluded that his progress with behavioral therapy was no better with these interventions than without them, so we discontinued them. We have continued to support him with ongoing behavioral therapy and have been delighted with his progress.

Now our son is an active participant in his community. With the support of family, friends, educators, therapists, and doctors, he enjoys many of the same activities as his peers: swimming, basketball, bowling, summer camp, reading, and discovering. All who take the time to get to know him are drawn in by his gentle demeanor, curious nature, and wonderful sense of humor.

—Paul Carbone, MD, FAAP

ELLEN HAD ALWAYS TAKEN PRIDE in her son’s intelligence, his expansive vocabulary, and his knowledge of dinosaurs. But at the age of 11, Brian was struggling socially. Classmates found his all-consuming obsession with dinosaurs annoying, and Brian grew impatient with them if they didn’t know as much as he did about the prehistoric creatures. He had trouble understanding sarcasm from his peers. He couldn’t tell when they were being mean but got overly sensitive when they weren’t. He sometimes made rude, sarcastic comments during class while the teacher was talking.

Brian also behaved in unusual ways. He was always touching people when he was stuck waiting in lines, falling down at unexpected times, and making loud, inappropriate comments about people within earshot. What concerned Ellen the most was that Brian never seemed to look her in the eye while she was talking to him.

Over time, Ellen grew suspicious that something else was going on with her son, especially when she went back to college to get a degree in psychology and started doing more reading. Though he had already been diagnosed as having attention-deficit/hyperactivity disorder at age 7, she began to wonder if he also had ASD, a diagnosis that a teacher had once suggested but that Ellen had always dismissed. He didn’t fit the profile of what I thought was autism, she says. I always thought children with autism were unattached, unresponsive, and in their own world.

Ellen had Brian evaluated by a psychologist. A screening test suggested that he had ASD. The more she learned about ASD, the more Ellen was convinced that Brian had it. Ellen considered whether to pursue a formal ASD diagnosis. On the one hand, she knew that with a diagnosis, Brian would be eligible for more therapy services. On the other hand, she was concerned the label would create stigma for her son. And I’m afraid some people will look at me and think I’m a bad parent, she says.

CHANCES ARE, YOU’RE FAMILIAR with some of the concerns that Ellen is facing or the difficult emotions that Dr Carbone has experienced while adjusting to his son’s diagnosis. Like Ellen, you may be wondering whether you should have your child evaluated or what a diagnosis will mean for your child’s life. Like Dr Carbone, you may be looking for information about where to find help for your child’s social and communication challenges. Or maybe you suspect your child has ASD but haven’t addressed your concern with your pediatrician yet.

We hope that reading this book will help provide you with the information you are seeking to make the best decisions for your child. In this book, you will learn how ASD is defined and diagnosed and the types of behavioral and developmental therapies available for treating it. You will learn when medications may be required and whether complementary and integrative medicine may be helpful. We also help you create a treatment team that includes your pediatrician, and we provide information to help you care for your child and get a handle on the types of services and assistance available to him. In addition, we help you understand the effect of ASD on you and the rest of your family. Stories from other parents help you understand that you are not alone on this journey. You will acquire an understanding of how ASD will affect your child as he grows older and the types of advocacy you can do as the most important member of the treatment team: the parent of a child with ASD.

AUTISM SPECTRUM DISORDER is a biologically based neurodevelopmental disorder that affects a child’s behavior and social and communication skills. For most children, this condition is chronic and requires lifelong management. The condition of some children—approximately 9%, according to studies—improves over time to a point at which it no longer meets diagnostic criteria for ASD. In general, these children are the ones who have typical learning abilities and have received early, intensive behavioral therapy (see Chapter 4). However, most children whose condition no longer meets criteria for ASD still have other developmental and behavioral symptoms.

No doubt, we certainly hear a great deal about ASD these days. A 2018 study by the Centers for Disease Control and Prevention estimated that 1 in 59 children is diagnosed as having ASD, about 1.7% of all children. Boys are 4 times more likely to be identified than girls, and white children are more often diagnosed than black and Hispanic children.

A major reason for the dramatic increase in the diagnosis of ASD has to do with changes in the way the condition is diagnosed. In 1994, the diagnosis was changed to include children with milder symptoms, including those whose language is closer to normal cognitive milestones. In addition, a growing body of research showing the importance of early, intensive behavioral treatment in helping children with ASD prompted the federal government to emphasize early detection, so more children could receive services at a younger age. The emphasis on importance of early diagnosis and intervention inspired several major public education campaigns to teach parents about ASD and the importance of early diagnosis. Because more children are now considered to have ASD, and diagnosis is occurring earlier in life, the prevalence of ASD has increased.

In spite of all the public interest in and attention on autism, figuring out whether your child has ASD is not easy. This condition is remarkably complex and difficult to diagnose. No 2 children exhibit the same symptoms, and severity varies widely. Some cases may be subtle, while others may be more straightforward. In most cases, the process of determining whether a child has ASD usually begins with parents who are concerned about their child’s development. But in some cases, the early sign of ASD first comes to the attention of a pediatrician, teacher, or child care provider who observes something different in the way the child plays, learns, speaks, or acts.

Can a child ever fully outgrow autism spectrum disorder?

Symptoms of autism spectrum disorder vary greatly from one child to the next. While it’s possible for the condition of some children—studies indicate approximately 9%—to improve to the point at which it no longer meets diagnostic criteria, most children continue to have some degree of developmental or behavioral symptoms.

We’ll discuss more about diagnosis in Chapter 3. First, we’ll go back in time to see how autism emerged as a major health concern.

A Brief History of Autism

Autism was first described in 1943 by Leo Kanner, MD, a child psychiatrist at Johns Hopkins University School of Medicine. It was Dr Kanner who first coined the term autism, borrowed from the Swiss psychiatrist Eugen Bleuler, who used the word to describe the idiosyncratic, self-centered thinking he saw in people who had schizophrenia. Dr Kanner used autism to describe 11 children in his practice who seemed to prefer isolation to social engagement. The children all displayed extreme aloofness and total indifference to other people. They made little eye contact and did not engage in imaginary play. Some displayed an amazing ability for rote memory.

Others were obsessed with routines, spinning toys, and mechanical objects. Dr Kanner believed that autism was an inborn disorder and that children with this condition entered the world without biological underpinnings for social interaction. These were children who lived in their own world. Even today, Dr Kanner’s descriptions of autism are highly regarded and considered some of the best ever written.

In the 1950s, Freudian psychoanalysts put a new spin on autism, contending that the condition resulted from the emotional withdrawal of a baby born to a cold and emotionally distant parent. In particular, they focused on mothers and called these parents refrigerator mothers. Bruno Bettelheim, PhD, then the director of the Orthogenic School in Chicago, became fascinated with children who had autism and advanced this theory. (Dr Bettelheim had a doctor of philosophy but was widely cited as a child psychologist. He lectured on psychology at the University of Chicago, despite the lack of any formal training.) Dr Bettelheim’s most famous patient was a boy named Joey, whom he described in 1959 as a mechanical boy in the popular magazine Scientific American. At 18 months of age, Joey was unable to speak and was described by his grandparents as remote and inaccessible. Joey became fascinated with mechanical objects and learned to take apart and reassemble an electric fan. By the age of 4, Joey was spending a great deal of his time rocking back and forth and becoming completely consumed with mechanical objects.

Like many of his colleagues at the time, Dr Bettelheim attributed Joey’s unusual behaviors to his parents. Dr Bettelheim claimed that their aloof parenting style forced Joey to withdraw into his own world and marked the beginning of his descent into schizophrenia. In fact, autism was classified as a form of childhood schizophrenia in the first 2 editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM), a manual published by the American Psychiatric Association to provide diagnostic criteria for behavioral conditions.

Fascinating Fact

Donald Triplett, the first child cited in the now-famous report on autism by Leo Kanner, MD, was profiled in The Atlantic in October 2010. At the time, he was 77, living in Forest, MS. Although he faced many challenges throughout his life, he was embraced by his community and enjoyed doing activities such as playing golf. Read his story online at www.theatlantic.com/magazine/archive/2010/10/autisms-first-child/308227.

Early Signs of Autism Spectrum Disorder

Social Differences

Resists snuggling when picked up; arches back instead

May have temperament differences during infancy, such as being described as a very quiet or very fussy baby

Makes little or no eye contact

Shows no or less expression in response to parent’s smile or other facial expressions

May avoid following a parent’s gaze or finger to see what parent is looking at or pointing to

No or less pointing to objects or events to get parents to look at them

Less likely to bring objects to show to parents just to share his interest

Less likely to show appropriate facial expressions

Difficulty in recognizing what others might be thinking or feeling by looking at their facial expressions

Less likely to show concern (empathy) for others

Difficulty in establishing and keeping friendships

Communication Differences

Less likely to say single words by 15 months of age or 2-word phrases by 24 months of age

May repeat exactly what others say without understanding its meaning (parroting, or echolalia)

Responds to sounds (such as a car horn or a cat’s meow) but less likely to respond to name being called

May refer to self as you and others as I (pronoun reversal)

Shows no or less interest in communicating

Less likely to start or continue a conversation

Less likely to use toys or other objects to represent people or real life in pretend play

May have a good rote memory, especially for numbers, songs, television jingles, or a specific topic

May lose language milestones, usually between the ages of 15 months and 24 months in some children (regression)

Behavioral Differences (Stereotypic, Repetitive, and Restricted Patterns)

May rock, spin, sway, twirl fingers, or flap hands (stereotypic behavior)

May prefer routines, order, and rituals

May be obsessed with a few activities, doing them repeatedly during the day

More likely to play with parts of toys instead of the whole toy (for example, spinning wheels of a toy truck)

May have splinter skills, such as the ability to read at an early age but often without understanding what it means

May not cry if in pain or seem to have any fear

May be very sensitive or not sensitive at all to smells, sounds, lights, textures, and touch (sensory processing differences) n May have unusual use of vision or gaze (for example, looks at objects from unusual angles)

May have unusual, or intense but narrow, interests

Dr Bettelheim’s views persisted for years until experts began to consider autism from more biological perspectives. In 1964, a research psychologist named Bernard Rimland described infantile autism as a neurological disorder with a strong genetic component. Rimland and his wife were personally acquainted with autism—they were the parents of a child with autism, which they had diagnosed themselves.

Studies in the early 1970s showed that despite causing similar symptoms, autism was a disorder distinct from childhood schizophrenia. In 1977, the first study of twins and autism was published in the Journal of Child Psychology and Psychiatry. The study showed a strong genetic influence in identical twins who had autism. If one twin had autism, the other twin was much more likely to have other cognitive differences too. Finding a genetic connection to autism meant that autism needed to be described more precisely so it could be properly studied and better understood. That became possible in 1980, when ‘infantile autism‘ finally received its own separate category in the third edition of DSM.

What Autism Spectrum Disorder Might Look Like

It isn’t always easy for parents to know whether a child has autism spectrum disorder (ASD). Some of the symptoms of ASD may be seen in children with other types of developmental or behavioral problems or, to a lesser extent, in children with typical development. Also, not all the symptoms are seen in all children. Some children may display only a few of the symptoms. This is what makes the process of diagnosing ASD difficult. But here are some examples that may help distinguish a child with ASD from other children.

At 12 Months of Age

A child with typical development will turn his head when he hears his name.

A child with ASD might not turn to look, even after his name is repeated several times, but will respond to other sounds.

At 18 Months of Age

A child with delayed speech skills will point, gesture, or use facial expressions to make up for her lack of talking.

A child with ASD might make no attempt to compensate for delayed speech or might limit speech to parroting what is heard on television or what she just heard.

At 24 Months of Age

A child with typical development brings a picture to show his mother and shares his joy from it with her.

A child with ASD might bring her a bottle of bubbles to open but doesn’t look at his mom’s face when he does or share in the pleasure of playing together.

Defining Autism Spectrum Disorder Today

Even since the most recent edition of this book, the definition of ASD continues to evolve. The newest version of the diagnostic manual of behavioral disorders, the DSM-5, was published in 2013. We have therefore eliminated a more extensive discussion of the definition used in DSM-IV in order to focus on current standards. In short, the disorder remains essentially unchanged, but how it is classified and described is different.

My son is 20 months old and was developing typically until recently. Someone suggested he might be regressing developmentally, which may be a sign of autism spectrum disorder. What does that mean?

Regression occurs in about 33% of children with autism spectrum disorder (ASD). These children may appear to develop typically, then experience a gradual or sudden loss of social or communication skills without a change in their motor skills. Studies suggest that this is most likely to occur between 18 months and 24 months. They may stop talking if they’ve already started using words and may stop turning their heads when their names are called. They may withdraw into their own world and may appear more distant and less interested in their surroundings. They may become more irritable. For parents, the abrupt change is alarming.

A close look at children’s behavior before diagnosis shows that some of the delays in developmental milestones might have been present before regression, at least to a mild degree. When researchers looked at past home videos of these children at their first birthday parties, they saw subtle signs in some children before regression became obvious and ASD was detected. The most common sign they noticed was that these children did not consistently turn their heads when their names were called.

The New Definition of Autism

In the new DSM, the DSM-5, a single diagnostic category of ASD replaces the category of pervasive developmental disorders from DSM-IV, including autistic disorder, Asperger syndrome, pervasive developmental disorder–not otherwise specified, and childhood disintegrative disorder. The DSM-5 provides a simplified way of defining autism.

To be diagnosed as having ASD per the DSM-5, a child must have problems in 2 main areas: social forms of communication, and restrictive or repetitive behaviors and interests. More specifically, these are

Persistent struggles with social communication and social interactions in various situations that cannot be explained by other developmental delays. These may include problems with give-and-take in normal conversations, difficulties in making eye contact, a lack of facial expressions, and difficulties in adjusting behaviors to fit different social situations.

Obsessive and repetitive patterns of behavior, interests, or activities. These may include unusual and constant movements, strong attachment to rituals and routines, and fixations on unusual objects and interests. These may also include sensory abnormalities, which have always been commonly seen in children with ASD but were not used previously to diagnose ASD. Children with sensory abnormalities may be hypersensitive to certain sounds, textures, or lights. They may also be unusually insensitive to things in the environment that usually cause pain, heat, or cold.

The new criteria note that symptoms must begin in early childhood and disrupt a child’s day-to-day functioning. In addition, diagnosis must take into account an individual’s age, stage of development, intellectual abilities, and language level.

If you have any concerns about the diagnosis your child receives or questions about DSM classification or terminology, talk with your child’s pediatrician.

What We Know and Don’t Know About Autism

We’re a long way from the days when Dr Bettelheim pointed to parents for a child’s autism. We now know that it is a neurodevelopmental disorder, something that occurs in the early formation of the brain. We also know the importance of early diagnosis and treatment and now have the tools to help us determine whether a child has or is at risk for ASD. To that end, organizations such as the Centers for Disease Control and Prevention and the American Academy of Pediatrics have waged successful public awareness campaigns such as Learn the Signs. Act Early. (www.cdc.gov/actearly) to promote surveillance and screening that leads to early diagnosis. This has made early treatment possible for the benefit of millions of children. In addition, we know that certain therapies are more effective than others at treating symptoms.

For example, developmental and behavioral interventions are the mainstay of supporting individuals with ASD. Behavioral interventions focus on changing specific behaviors and symptoms. As these behaviors change, social relationships and mastery of basic developmental capacities improve. There are several different types of behavioral interventions (see Chapter 4). Studies have consistently shown that children with ASD who use intensive and systematic behavioral principles to reinforce developmentally appropriate skills from a young age have improved social communication, intelligence, language, behavior, and self-help skills when compared with children with ASD who do not.

Throughout this book, we discuss resources and services available today that did not exist just a few years ago and provide strategies on how to access them. People with special needs are more widely accepted in today’s society, and the desire to include them in family and community life has opened doors and allowed them to participate in activities and go to venues that were previously inaccessible. It has been shown that reported quality of life for adults with ASD is determined more by the presence of family and community supports than by the characteristics of the disability. Children born with ASD today have greater hope for full and rewarding lives than they ever did in previous generations.

Even so, there are still many unknowns. Although it is now clear that ASD has many different causes, some of which can be identified, in many cases a precise cause is not determined. In addition, all children with ASD are unique, so no single treatment works for every child. While scientists do know that the rate of ASD diagnosis is rising rapidly, they have yet to figure out the rate at which ASD itself is increasing. The search for answers has led to unfounded theories and unproven remedies.

Take vaccines. Research shows that almost 20% of parents worry that vaccines are not safe for their children and might lead to health problems such as autism or diabetes. In particular, some people worry about the measles-mumps-rubella (MMR) vaccine. Their belief is bolstered by the fact that regression in children who are later diagnosed as having ASD might occur weeks to months after the MMR vaccine is given. The timing has led many parents to mistakenly assume a cause-and-effect relationship between the MMR vaccine and ASD. Research has long since shown that vaccines do not cause ASD, but unfortunately, some parents still have vaccine concerns. (For more detailed information, see Chapter 2.)

My friend says her sister cured her son of autism with the gluten-free/casein-free diet. Should we try it?

Although the American Academy of Pediatrics does not endorse the gluten-free/casein-free (GFCF) diet, it does understand that some parents may want to consider trying it. Before doing so, it’s important to discuss your child’s nutritional needs with your pediatrician. For instance, a diet without casein restricts the amount of calcium and vitamin D a child gets and puts her at risk for osteoporosis later in life. Therefore, it’s essential to find other ways to meet your child’s needs for calcium, vitamin D, and iron. You also have to make sure your child meets her caloric needs. Your pediatrician might refer you to a registered dietitian.

Before your child goes on the GFCF diet, make sure to identify target behaviors and how you will measure changes in those behaviors. By doing so, you will be able to gauge whether the diet is working. Finally, make sure to keep your child’s food preferences and routines in mind. Children with ASD are often resistant to change. And your child may not like the idea of eating foods that are different from what she’s used to eating and what the rest of the family eats. You may need to use behavioral strategies to get her to eat new foods. If your child has improved irritability or intestinal symptoms but no change in symptoms of ASD, it may be that she has a common intestinal problem such as lactose intolerance.

Many people also worry about thimerosal, a mercury-based preservative used in vaccines to prevent bacterial contamination. That fear has also been proven false. Since 2001, most routine children’s vaccines made in the United States have had no thimerosal, except for some flu vaccines. But the rate at which ASD has been diagnosed has continued to climb.

The search for a cause has also led to theories about abnormalities in the gastrointestinal (GI) tract that cause changes in the brain. The belief that ASD is a GI disorder has given rise to nutritional therapies that have limited scientific backing.

Of particular interest has been the gluten-free/casein-free diet. This diet is based on the belief that gluten (a molecule found in barley, rye, oats, and wheat) and casein (a molecule found in milk products) cause substances produced by these foods to enter the bloodstream and travel to the brain, triggering symptoms we see as ASD. You’ll find more information on nutritional therapies and other alternative remedies in Chapter 7.

The Bottom Line for Parents of Children With Autism

As the parent of a child who has ASD—or a child whom you suspect has ASD—you probably want to learn more about ASD. In this book, we do our best to provide you with the most up-to-date facts and information about ASD. We also share stories from other parents, who are often the best sources of information as well as emotional support. Our goal is to empower you with the knowledge you need as you embark on this journey with your child. We encourage you to partner with your child’s doctor, who can help you every step of the way. Armed with the appropriate facts and information, you will be able to make the best possible choices for your child given our current knowledge and understanding.

Autism Champion: Carmen Pingree

BACK IN 1979, when Carmen Pingree’s son Brian was diagnosed as having autism, 95% of children with autism were institutionalized. The only program for children with autism near their home in Salt Lake City, UT, had 4 students in it, with 12 on a waiting list. And getting a diagnosis typically took years.

Even getting answers for Brian had been a struggle despite all the classic signs—Brian rocked for hours at a time, ignored the affection and attention of his family, and became fascinated with windshield wipers, heights, and lights. He had a penchant for unscrewing objects and undoing latches and locks. Experts labeled him abused, emotionally disturbed, and mentally retarded.

When he was nearly 4 years old, he was finally diagnosed, much to Carmen’s relief. We finally had a name for what we were dealing with, she says. We read books, attended conferences, met other parents, and found a small behavior therapy program with young dedicated professionals. The information lowered our frustration and gave us tools to work with Brian at home until we could find a way to expand the preschool program.

Together with other parents, Carmen obtained a school building that was being closed. Then she turned her energies toward getting funding from the Utah state legislature. She went back to college to get a master’s degree in special education and political science, a perfect melding of the task that lay ahead. She invited legislators to visit the program, learn about autism, and hear budget requests over lunch.

Her husband and even her other 4 children got involved in the effort, which ultimately succeeded in securing funds for autism services in Utah, including the preschool program, an adolescent teaching home, and a residential treatment program.

Carmen didn’t just lobby. She also began to pursue federal and community funding for autism research and helped create a 5-year joint epidemiological and genetic study between the University of Utah and the University of California, Los Angeles. Through the years, she became an autism research consultant