Autism spectrum disorders (ASDs)

Autism spectrum disorders (ASDs) are developmental conditions that cause children to have problems with communication and interactions with other people. They’re a diverse set of disorders: Each child who has an ASD has a unique set of challenges and strengths.

The terms for autism spectrum disorders can often seem confusing. One reason for that is that the ways ASDs are defined is in flux. In particular, the Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association, which provides the standard classification of these disorders, is in revision, with the new edition due to be published in 2012.

Currently, there are three recognized types of ASDs:

• autism (also called autistic disorder)
• Asperger's syndrome
• pervasive developmental disorder – not otherwise specified (PDD-NOS)

But ASDs are far more diverse than a list of just three names implies. It now appears that there are many different types of ASDs. So today some experts don’t even use those three names; instead, they may simply say “autism spectrum disorder,” because “spectrum” reflects the huge diversity.

ASDs are also called pervasive developmental disorders (PDDs). PDDs are sometimes considered to be a broader group that includes two other disorders:

• Rett syndrome is a condition that has been included among PDDs, but it is now considered to be a distinct disorder that has many autism-like symptoms.
• Childhood disintegrative disorder (CDD) is a disorder in which a child has autistic symptoms and experiences a severe regression in skills. This diagnosis is very rare.

See Symptoms to learn more about the behavioral symptoms of ASDs and how autism, Asperger syndrome and PDD-NOS are defined.

Every child with an ASD is unique

There’s a wide variation in how ASDs affect children. For example:

• Some children with an ASD may have very few language skills, while others speak easily but aren’t good at using language to communicate with other people.
• Some are extremely intelligent, while others have severe cognitive impairments.
• Some may not have any atypical behaviors that are immediately noticeable, while others have behaviors that may look very unusual.
• Some are easygoing, while some may get easily frustrated and tend to behave aggressively or injure themselves.

An ASD impacts your child’s development, but it doesn’t impact his development evenly, in every area. Instead, a diagnosis of an ASD means that your child has unusual development. So if your child has an ASD, he probably has both difficulties and strengths.

Likewise, it’s not possible to simply say that one child is on the “low” end of the autism spectrum and that another child is at the “high” end. Instead, each child will likely struggle in different areas and be more skilled at different things.

An in-depth evaluation performed by specialists in child development and behavior can help answer questions like:

• What skills does your child have the most trouble with? These are the skills your child’s behavioral and educational therapists will most need to work with him on.
• What are your child’s strengths? His team may be able to harness these strengths to help your child learn in other areas.

It’s also important to keep monitoring your child as he grows up, because the characteristics of his behavior and development may shift.

Parents often ask whether their child will have his ASD for the rest of his life. There’s no easy answer, as each child is so different and as our understanding of these conditions and the therapies available are changing. Some general principles are:

• There is no known “cure” for ASDs.
• An ASD diagnosis is based on your child’s behavior. Sometimes, a child’s behavioral symptoms may change enough that his specific diagnosis (autism, Asperger syndrome or PDD-NOS) may change. In a few cases, with time and intensive treatment, a child no longer meets the criteria for an ASD.
• Many children, however, will continue to have symptoms of an ASD into adulthood, though their symptoms may improve over time or change in other ways.

How many children have autism spectrum disorders?

Estimates of the number of children who have an ASD have varied widely—from fewer than one child in every 1,000 to one in 110. It’s very difficult to know what the true number is, since different studies were conducted and interpreted in different ways.

The number of children being diagnosed with ASDs has been increasing since the 1980s. Many experts agree that this increase is due at least in part to better identification of children who have autistic symptoms, as well as a broadening in diagnostic criteria. In other words, a child who’s diagnosed with an ASD today might not have been diagnosed 20 years ago.

Symptoms

ASDs are neurodevelopmental disorders, meaning they affect the way your child develops and behaves. The core behaviors that define ASDs are:

• difficulty with social interactions
• difficulty with language and other forms of communication, like gesturing or using facial expressions
• unusual, restricted or repetitive behaviors (also called “stereotyped” behaviors or stereotypies), which can involve either interests or actions

These symptoms typically occur before your child is 3. Often, subtle symptoms—such as not making eye contact, gesturing or responding to one’s name—can be seen in children as young as 1. Sometimes children develop normally at first, but then stop gaining new skills or lose skills at around 18 to 24 months.

For some children, especially those whose ASD symptoms are less pronounced, the diagnosis is made later. These children may experience challenges like being teased or feeling isolated from peers, which can then cause parents and health care providers to recognize subtle signs of an ASD.

The three specific ASDs are diagnosed based on your child’s behavior:

• In autism, your child has symptoms in all three of the core areas.
• In Asperger syndrome, your child has the social and behavioral symptoms of autism, but he does not have language delay. However, his language skills may still be unusual in some way, and he may have trouble using language for socially communicating with other people. Children with Asperger’s don’t have significant cognitive impairments, whereas children with autism or PDD-NOS may or may not.
• In PDD-NOS, your child has difficulties in social interactions, language and behavior but doesn’t meet the full criteria for autism.

Children can have some of these types of behaviors and not have an ASD. Children who have ASDs, however, have more considerable impairments or delays in these areas. For example, a child without an ASD who’s 2 or 3 may flap his arms when he’s excited, but he doesn’t flap his arms all the time, and it doesn’t get in the way of his ability to do other things. On the other hand, a 5-year-old with an ASD might flap his arms frequently, or he might have an interest that takes up so much of his attention that he has trouble talking with other people about anything else.

In addition, other neurodevelopmental disorders have symptoms that are similar to ASDs. For example, if your child has problems with language, he doesn’t necessarily have an ASD—he may have another kind of language disorder.

The core symptom areas of ASDs (social and communication difficulties and restricted or repetitive behaviors) may show up in a variety of ways. Your child may:

• have trouble interacting or communicating with others, including family
• have a hard time expressing feelings
• appear unable to understand how another person feels
• not show interest in physical contact with other people
• appear withdrawn or prefer to do things by himself
• have difficulty making friends
• avoid eye contact with others
• have trouble speaking or not speak at all
• say a word or phrase repeatedly (“echolalia”)
• have trouble understanding subtleties in language, like jokes
• repeat a motion, such as rocking or flapping his hands or spinning in circles
• have unusual rituals or ways of playing with toys
• prefer routines, and get upset when a routine is broken
• have a particular area of interest that consumes a lot of his attention

Children with ASDs often also have unusual sensory behaviors. For example, your child may:

• be preoccupied with lights or moving objects
• peer at things out of the corner of his eye
• dislike certain sensory inputs, such as loud noises
• crave other sensory inputs, such as deep pressure on his skin

A few children with autism spectrum disorders also have exceptional skills or talents in a specific area, such as math, music, art or memory.

For more information about signs and symptoms of ASDs, you may want to consult detailed information from the Centers for Disease Control and Prevention (CDC). In addition, the Autism Speaks website has a library of videos showing many of the behaviors of ASDs.

Causes

Most cases of ASDs have no known cause. A lot of research is going on now—much of it here at Children’s Hospital Boston—to better understand what can cause ASDs. One thing seems clear: There are probably many different causes. And it’s very unlikely that anything you did or did not do during your pregnancy or your child’s infancy or toddler years was the cause of your child’s ASD.

ASDs appear to be largely genetic disorders, and there are probably multiple DNA changes involved. Research at Children’s and other institutions is going on now to understand how these DNA changes may contribute to children’s symptoms. Because ASDs are often genetic, a child who has a sibling or parent with an ASD has an increased risk of also having an ASD. On the other hand, some of the DNA changes that can cause ASDs are “spontaneous”—that is, a child didn’t inherit the DNA change, but instead it happened in just his DNA.

In a small number of cases, a prenatal infection, injury or other medical condition is thought to be involved. While it has been suggested that some vaccines may be a cause, there is a large amount of research showing that vaccines are not associated with ASDs. To read more about ongoing efforts to understand the causes of autism, including a discussion of vaccines, visit the website of the Centers for Disease Control and Prevention (CDC).

FAQ

Q: What are autism spectrum disorders?
A: Autism spectrum disorders (ASDs) are neurodevelopmental disorders, meaning they affect the way your child develops and behaves. The core behaviors that define ASDs are:

• difficulty with social interactions
• difficulty with language and other forms of communication, like gesturing or using facial expressions
• unusual, restricted or repetitive behaviors (also called “stereotyped” behaviors or stereotypies), which can involve either interests or actions

ASDs have a wide range of effects on children. And while an ASD impacts a child’s development, it doesn’t impact his development evenly, in every area. If your child has an ASD, he probably has both difficulties and strengths.

Q: What’s the difference between autism, Asperger’s and PDD-NOS?
A: Autism, Asperger syndrome and PDD-NOS are three specific types of ASDs. Each is diagnosed based on your child’s behavior:

• In autism, your child has symptoms in all three of the core areas.
• In Asperger syndrome, your child has the social and behavioral symptoms of autism, but he does not have language delay. However, his language skills may still be unusual in some way, and he may have trouble using language for socially communicating with other people. Children with Asperger’s don’t have significant cognitive impairments, whereas children with autism or PDD-NOS may or may not.
• In PDD-NOS, your child has difficulties in social interactions, language and behavior but doesn’t meet the full criteria for autism.

Q: What causes ASDs?
A: Current research is showing that there are probably many different causes of ASDs. Usually, the cause of an individual child’s ASD can’t be determined. It’s very unlikely that anything you did or did not do during your pregnancy or your child’s infancy or toddler years was the cause of your child’s ASD.

ASDs appear to be largely genetic disorders, and there are probably multiple DNA changes involved. Because ASDs are often genetic, a child who has a sibling or parent with an ASD has an increased risk of also having an ASD. On the other hand, some of the DNA changes that can cause ASDs are “spontaneous”—that is, a child didn’t inherit the DNA change, but instead it happened in just his DNA.

In a small number of cases, a prenatal infection, injury or other medical condition is thought to be involved. While it has been suggested that some vaccines may be a cause, research shows that vaccines are not associated with ASDs. To read more about ongoing efforts to understand the causes of autism, including a discussion of vaccines, visit the website of the Centers for Disease Control and Prevention (CDC).

Q: How are ASDs diagnosed?
A: ASDs are diagnosed based on your child’s behavior. During an assessment, your child’s medical team will:

• perform a medical and neurological examination
• study your child’s cognitive and language abilities
• observe your child’s behavior
• talk with your family in depth about your child’s behavior and development
• learn about your child’s family history

As part of the assessment, the team may perform other tests to look for related medical concerns. For instance, children with ASDs often have sleep difficulties, and 20 to 30 percent develop seizures or epilepsy.

If your child is diagnosed with an ASD, we will also recommend genetic testing to see if he has a genetic change that could cause other medical issues.

Q: What therapies are used to help children with autism spectrum disorders?
A: There are many different therapies and combinations of therapies that can help children with ASDs. Your child’s medical team will recommend specific therapies and educational strategies to address your child’s unique social, behavioral, communication and academic needs.

Intensive behavioral therapies are one of the most common approaches used to help children with ASDs build language, social and play skills. There are a variety of different kinds of behavioral therapies, including applied behavioral analysis (ABA). In ABA, a therapist breaks down new skills into small, incremental steps, so that over time and with practice, your child can build the complex skills he needs. Other therapies include DIR®/Floortime™, SCERTS®, RDI, and methods that use components of different types of therapies. Visit the Treatment & Care tab to learn more about behavioral therapies that are used to help children with ASDs.

Children with ASDs often also benefit from speech-language therapy and occupational and physical therapy.

If your child has other challenges such as hyperactivity, attention problems, anxiety or seizures, treating these problems may help with some of the symptoms of his ASD. Managing these symptoms can also help break down barriers that may be inhibiting him from learning well in his behavioral and educational therapies.

Q: Where can I get those therapies for my child?
A: Most of the behavioral therapies and teaching approaches used to help children with ASDs are provided through programs run by your state and local school system. These include early intervention services for children under age 3 and special education services for children age 3 and older.

To learn more about how to access educational services in your community, see the resources listed in Coping and support.

Q: Are medications used to treat ASDs?
A: There’s currently no medication for the core symptoms of ASDs. However, medications are often used successfully for related symptoms, such as irritability, hyperactivity, attention problems, anxiety or seizures. Treating these related symptoms may help your child with some of the symptoms of his ASD, as well.

Q: Will a child who is diagnosed with an ASD have that condition for the rest of his life?
A: There’s no easy answer, as each child is so different and as our understanding of these conditions and the therapies available are changing. Sometimes, a child’s behavioral symptoms may change enough that his specific diagnosis (autism, Asperger syndrome or PDD-NOS) may change. In a few cases, with time and intensive treatment, a child no longer meets the criteria for an ASD. Many children, however, will continue to have behaviors that indicate an ASD into adulthood, though their symptoms may improve over time or change in other ways.

Q: What if I want to try complementary therapies to help my child?
A: As research continues to give us new understanding of ASDs and to investigate new medications and therapies, it’s natural to want to try different interventions for your child, and we’re always happy to discuss them with you.

It’s important to talk to your child’s doctor about any medications or special diets that you’re considering, even if they’re termed “natural” or “herbal.” Some medications, herbal therapies, vitamin supplements or special diets may be unsafe for your child, and some can be harmful if they’re not used properly. For example, many families today consider the gluten-free/casein-free diet, which can seem very easy. However, if it’s not implemented carefully, this diet isn’t nutritionally complete, so using it without consulting your doctor could have serious impacts on your child’s health and growth.

Your health care provider may also be able to tell you about new research on the treatment you’re interested in. That can be helpful to you as you try to decide what therapies may be right for your child. We can also talk with you about how to track whether or not a new therapy is working for your child.

When to talk to your doctor

Trust your instincts: If you have any kind of concern about your child’s behavior or development, you should bring it up with your child’s primary care provider. After all, no one knows your child better than you. You don’t need to worry that you’re being silly or overly cautious; it never hurts to ask.

This holds true no matter how old your child is. The symptoms involved in autism spectrum disorders can sometimes be seen when a child is just a year old, or they may be noticeable later. And you don’t have to be able to make sense of your concerns or put a name, like “autism,” on them before you talk to your doctor.

If your pediatrician thinks that your child could benefit from an evaluation with a specialist, she may refer you to Children’s, in the Developmental Medicine Center or the Neurology department. You can also set up an appointment on your own.

To set up an appointment at Children’s, see Contact Us.

Questions to ask your doctor

You and your family are key players on your child’s care team—not simply recipients of care. We’ll rely on you to share your observations and ideas about your child’s development with us, and we want to make sure you get answers to your questions and understand our assessments and recommendations.

If you’re coming to Children’s for a developmental evaluation, you probably already have some ideas and questions on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. It’s helpful to write them down ahead of time so that you can leave the appointment feeling like you have the information you need.

Some of the questions you may want to ask include:

• Does my child have a developmental disorder or another type of condition? Why are you making that particular diagnosis?
• Does my child need any further testing?
• What kinds of therapies does my child need? How can they help him?
• How can I access those therapies? Is my child eligible for government-sponsored early intervention services?
• Are there other treatments we can consider?
• Do we need to make appointments with other specialists?
• When does my child need to see you again?
• What are the best resources for me to learn more about autism spectrum disorders?
• What can I do to help my child’s development?
• How can we make life easier at home?

Don’t be afraid to ask about anything you’re concerned about, or any treatments that you’re wondering about trying.

Tell your child’s doctor about any care your child is receiving elsewhere or research studies you’re participating in. That will help ensure that your child’s care is well coordinated. If you’re thinking about starting a medication, herbal therapy or vitamin supplement or if you’d like to try a special diet, be sure to discuss it with your child’s doctor first, since some of these treatments may not be safe for your child. Talking with your child’s doctor first can help to avoid complications.

What you can do at home

These pages on autism spectrum disorders (ASDs) focus on the symptoms of the conditions and the care that’s available here at Children’s and in the community. But if you’re the parent of a child with an ASD, you already know his behaviors well, and you may already be working to access therapies for him. For you, the most pressing issue may be how to manage the everyday challenges that ASDs can bring. The following tips and resources may be helpful.

Working on behaviors and skills at home

It’s generally best if you’re working toward the same goals and using the same methods at home that your child’s therapists are using during the day. Maintaining consistent routines throughout the day, both at home and school, is especially beneficial for children with ASDs. Talk to your child’s therapists so that your efforts are well coordinated. Make sure you understand and are comfortable with the strategies the therapists are using and that you know how to reinforce them at home.

That doesn’t mean, however, that your child needs to be engaged in therapy-related activities all the time. You have lots of other responsibilities on your plate, and you and your child both need breaks. It’s perfectly OK to give your child times when he can pick what he wants to do for a while.

Dealing with difficult behaviors

Learning how to manage difficult behaviors is part of parenting any child. If your child has an ASD, you may find yourself facing some especially tough challenges. Here are a few tips and suggestions to help you find the information you need:

Safety is a special concern for children with ASDs: Your child may be more likely than others to wander away, for example, and other people may not understand your child’s behaviors. Autism Speaks provides detailed practical information on keeping your child safe in the Autism Speaks 100 Day Kit.

Children with ASDs need to get a well-balanced, healthy diet, just as other kids do. But achieving that can be a struggle if your child is especially sensitive to the taste, texture, smell or temperature of his food, or if he has other unusual behaviors like eating compulsively or rechewing food. Some mealtime tips are:

• Establish a structured mealtime; offer your child meals and snacks at around the same time each day.
• Keep mealtime calm, and limit distractions.
• Join your child during meals.
• Allow your child to feed himself if he can.
• Serve at least one food you know your child likes.

A bad night’s sleep means your child won’t be at his best the next day, and he may have extra problems paying attention, be more irritable or have more distracting behaviors. In most cases, behavioral strategies—like following a consistent nighttime routine and creating a quiet mood at bedtime—are very effective in solving sleep-related problems. Visit the Children’s Healthy sleep page to learn more about approaches that may work for your family.

Routine and consistency is very beneficial for children with ASDs, but there are many occasions when you’ll want—and need—to do things that don’t fit the mold. These include going on a vacation, going to parties or special family events and, of course, going to medical appointments. Some general guidelines that may help in managing special outings include:

• Prepare your child beforehand so he knows what to expect. It may help to:
  • use pictures
  • tell “social stories” (described on the website of The Gray Center)
  • explain, to the best of your knowledge, what will happen
  • role play at home what’s going to happen
• Create a schedule and plan structured activities that your child enjoys.
• Try to keep your expectations reasonable. It may help to keep the outing short.
• Do your best to stay calm if something unexpected happens. Children usually sense how a parent feels, so if you’re anxious, they’ll be anxious too.

The Children’s For Patients and Families site offers suggestions for talking about coming to the hospital that may be helpful for your family.

Many of these practical issues are discussed in a series of email bulletins from Children’s Developmental Medicine Center, which are tailored especially for parents of children who’ve just been diagnosed with an ASD. Talk to your child’s team at Children’s about signing up to receive them.

Information for your whole family

Accepting your child, understanding his behaviors and coping with his diagnosis is a process for everyone in your family—parents, siblings, grandparents, and others—and many other families of children with ASDs have similar struggles. Each of the members of your family may want to explore different resources to help you get the information and support you need.

Autism Speaks offers tips for different family members in their 100 Day Kit. It may also be helpful to seek out support groups dedicated to particular family members, people of different ages or single or divorced parents of children with ASDs. If you live in Massachusetts, consult the Autism Support Centers, which you can find on the Autism Consortium Family Resource Database, to locate support groups and other programs for family members.