KidsMD Health Topics

Autism Spectrum Disorders

  • Autism is one of the most talked-about medical conditions today. But when you take a step back, you may find you have more questions than answers.

    What is autism, exactly? What does it mean if a child is “on the spectrum”? Can these conditions be treated?

    If your child is having some developmental difficulties and your doctor has suggested that he be evaluated for an autism spectrum disorder, you’re probably overwhelmed, and you may be trying to make sense out of conflicting information.

    Autism spectrum disorders (ASDs) are complex conditions, and our understanding of them is evolving rapidly as researchers get more and more answers. An ASD tends to affect a child’s ability to interact and communicate with others and may cause him to have behavioral challenges. Different children with ASDs are affected in very different ways. There’s currently no “cure,” but we’re finding that there are therapies that can often be very effective in helping children with ASDs gain the skills they’re having problems with.

    Autism spectrum disorders are also called pervasive developmental disorders (PDDs).

    ASDs are defined by behaviors that may include:

    • difficulty with social interactions
    • difficulty with language and other forms of communication
    • unusual, restricted or repetitive interests or behaviors

    The specific names given to ASDs are:

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

    Some basic facts about ASDs are:

    • ASDs are three to four times more common in boys than girls.
    • They affect children in all ethnic and socioeconomic groups.
    • Exactly what caused a child’s ASD usually can’t be determined. It appears that ASDs are sometimes caused, at least in part, by DNA changes. Understanding the factors that may lead to ASDs is an active area of research.
    • Behavioral symptoms of ASDs typically appear before a child is 3, although more subtle differences can appear even in the first year of life.
    • There’s no laboratory test that can tell whether your child has or will develop an ASD. Currently, the diagnosis is based solely on your child’s behavior and development.
    • Research has shown that early diagnosis and therapy can be enormously helpful in improving behaviors and abilities.

    As the word “spectrum” implies, autism spectrum disorders 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.

    A range of behavioral therapies and teaching approaches are used to help children develop skills in the areas where they're having difficulties. Depending on your child's needs, occupational, physical and communication therapies may be very helpful, too.

    How Boston Children’s Hospital approaches autism spectrum disorders

    Children’s brings together an array of specialists—including developmental behavioral pediatricians, child neurologists, psychologists and speech-language pathologists—to provide the multi-faceted assessments and care that children with autism spectrum disorders need. Along with experienced resource specialists, we are dedicated to providing the best possible care for your child and helping your family access the right educational approaches and therapies for his unique situation.

    The process of evaluating your child involves more than simply diagnosing him with autism, Asperger syndrome or PDD-NOS. Instead, we perform in-depth assessments, close follow-up and ongoing support for your family:

    • We work to get the fullest possible understanding of your child’s strengths and challenges. This helps us provide detailed, expert recommendations that can help you and your child’s school system plan his therapy and education.
    • The key challenge in caring for a child with an ASD is often simply finding and accessing the right therapies for him. So Boston Children’s resource specialists work intimately with your family to help you find the services you need.
    • We continue to see your child periodically as he grows up to see how he’s doing, make new recommendations for therapy and keep an eye out for any related medical concerns.

    At Boston Children’s, our team is devoted to advancing our understanding of autism spectrum disorders. Our researchers are approaching ASDs from many different angles, working together so that new discoveries translate quickly into new, effective methods for diagnosis and treatment.



     


    Autism spectrum disorders (ASDs): Reviewed by Carolyn Bridgemohan, MD, Ellen Hanson, PhD, and Sarah Spence, MD, PhD
    © Boston Children’s Hospital, 2010

    Contact Us

    If your child has other conditions associated with ASD, such as attention or learning problems, your ASD team may work with professionals in the Developmental Medicine Center. 

    Boston Children's Hospital
    300 Longwood Avenue
    Boston MA 02115 

    617-355-7025 

    If your child has other conditions associated with ASD, such as epilepsy or seizures, your ASD team may work with professionals in Neurology.

    Boston Children's Hospital
    300 Longwood Avenue
    Fegan 11 and Hunnewell 2
    Boston MA 02115 

    617-355-6388 

    If your child has other conditions associated with ASD, such as hyperactivity or anxiety, your ASD team may work with professionals in Psychiatry.

    Boston Children's Hospital
    300 Longwood Avenue
    Boston MA 02115 

    617-355-6680 

    Communication therapies are offered in the Children's Center for Communication Enhancement, which has a wealth of experience in working with children who have ASDs. Speech-language therapy can help your child understand language and use it to express himself. 

    Boston Children's Hospital
    9 Hope Avenue
    Waltham MA 02453 

    781-216-2209 

  • In-Depth

    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 Boston Children’s Hospital—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 Boston 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 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 Boston 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 Boston 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 Boston 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 Boston 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 Boston 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 Boston 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 Boston 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 Boston 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.


  • Tests

    If your pediatrician is concerned that your child has an autism spectrum disorder (ASD) or is having significant developmental or behavioral difficulties, your provider may recommend that your child see a specialist for a full evaluation. This involves:

    • making a diagnosis—distinguishing between ASDs and other behavioral or developmental disorders or medical conditions
    • assessing your child for related medical concerns
    • determining potential genetic causes
    • outlining your child’s unique strengths and challenges

    The process of evaluating your child involves more than simply diagnosing him with autism, Asperger’s, or PDD-NOS. At Boston Children’s Hospital, we perform in-depth evaluations to understand your child’s unique situation.

    A number of specialists are able to evaluate children for ASDs. These include:

    • child neurologists
    • developmental behavioral pediatricians
    • child psychologists
    • child psychiatrists

    At Boston Children’s, your child can be seen in either our Developmental Medicine Center or our Behavioral Neurology Program in the Neurology department. Specialists in these programs coordinate any additional evaluation or care that your child may need in other departments at Children’s.

    More than one specialist may be involved in your child’s assessment. Depending on your child’s age and needs, the team might also include an educational specialist, speech-language pathologist or occupational therapist.

    There’s no laboratory test that can tell whether your child has an ASD; currently, the diagnosis is based solely on your child’s behavior. During assessment, your child’s 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

    Identifying related medical conditions

    Your child’s team will probably also perform several other types of tests, if they haven’t already been done. These may include:

    • hearing and vision screening to see whether your child has a problem that might be contributing to his symptoms
    • blood lead testing
    • Wood’s lamp exam, a special skin test to screen for tuberous sclerosis

    Children who have autism spectrum disorders are more likely than others to have a number of other conditions, such as epilepsy, metabolic diseases, sleep disturbances and other neurological disorders. So we may also perform tests such as:

    • metabolic testing
    • neuroimaging (such as MRI)
    • electroencephalography (EEG)

    Not all children need these types of testing. Your child’s team will recommend specific tests based on your child’s history, physical examination and cognitive and behavioral testing.

    Children with ASDs often have other challenges, such as being especially selective with their food. This can mean that your child isn’t getting the nutrients he needs. Your child’s team will be on the lookout for these kinds of issues to make sure that your child is healthy and to prevent other medical problems from cropping up.

    Genetic testing

    At Boston Children’s, we recommend that all children who’ve been diagnosed with an autism spectrum disorder get genetic (DNA) testing to screen for conditions that are associated with ASDs.

    Although ASDs clearly have a genetic component, there’s no genetic test that’s able to determine whether your child has an ASD—the diagnosis is based on your child’s behavior, not his DNA. There are, however, some specific DNA changes that have been linked to ASDs. These DNA changes are rare, but if your child is diagnosed with an ASD, it’s important to check for them since they often cause other medical issues that your child will need care for. For some families, information from genetic testing can also be important for family planning.

    At Boston Children’s, genetic testing for ASDs routinely includes a chromosomal microarray (CMA) test and testing for fragile X syndrome. Other genetic testing may be appropriate for children with particular symptoms in addition to the ASD.

    Experts led by Children’s medical geneticist David Miller, MD, PhD, and Children’s Genetics Diagnostic Lab director Bai-Lin Wu, PhD, published a consensus statement on the importance of making the CMA test a standard part of assessing a child who has an ASD. This statement is presented at the Autism Consortium website and discussed in a post on Children’s blog Thrive.

    Describing your child’s unique strengths and challenges

    Diagnosing an autism spectrum disorder involves more than just putting a name on your child’s condition: It involves describing exactly what that condition looks like in your child. That’s true for any disorder, but it’s especially true for ASDs, since they’re so different in each child.

    So if your child’s team determines that he has the core symptoms that define an ASD, their work has just begun. They then go on to assess your child in detail. For example:

    • What kind of language skills does your child have?
    • At what age did his symptoms start? Has he experienced a regression in skills?
    • Does he have any related cognitive problems?
    • Does he have any challenging behaviors? Is he able to pay attention for extended periods?

    This in-depth evaluation is crucial for defining what kinds of educational programs and behavioral therapies your child could benefit from. Your child’s team will provide detailed recommendations that will be useful for you, your child’s school and other providers. See the Treatment tab to learn more about treatment strategies for children with ASDs.

    Ongoing monitoring and care

    As your child grows up, we will continue to see him periodically to assess his progress and make new recommendations for education and therapy.

    Support for primary care providers

    The American Academy of Pediatrics recommends that babies and toddlers be screened for autism and other developmental issues at their regular check-ups. By screening children early, children having developmental difficulties can be treated early—and research has shown that early treatment can make a big difference.

    Boston Children’s has implemented a developmental screening program in our own primary care practices, and based on our experiences, we’re working to help other providers perform developmental screening, too. We’ve created an online tool kit that offers primary care providers practical information on how to screen patients.

    Looking for early indicators

    Is there a way to detect autism spectrum disorders in infants so that interventions can begin earlier?  Charles Nelson, PhD, and his colleagues are committed to answering that question. Learn about their research, and one of the families participating in their studies, in Arresting autism.


    Dyslexia study has implications for autism

    Ava Porter is a young child that participated in a study at Children’s Hospital Boston investigating if dyslexia can be seen through brain imaging before dyslexia is apparent when a child struggles with reading. This could also help help to develop early recognition and treatment for autism. Read more about this study in the boston.com article.

     

    Identifying autism with electroencephalograms (EEG)

    Charles A. Nelson, PhD, research director of the Developmental Medicine Center and William Bosl, PhD, a neuroinformatics researcher in the Children's Hospital Informatics Program led a study on the use of electroencephalograms (EEG) to help diagnose autism spectrum disorders in infants. They found that  EEG were 80 percent accurate in identifying infants at risk for autism. Learn more about this study in the Children’s newsroom.

     


  • If your child has just been diagnosed with an autism spectrum disorder, you may feel like you've entered a maze, trying to find the best therapies to help your child communicate and express himself, have meaningful interactions with others, and learn and develop the skills he needs.

    We want you to know you're not alone: Our team at Boston Children's Hospital makes specific, highly individualized recommendations for behavioral, educational and medical therapies for your child. Because research indicates that intensive therapies are often enormously helpful to children with ASDs, we are dedicated to helping your family find the best approaches for your child—both when he's first diagnosed, and as he grows.

    When making our recommendations, we don't just focus on your child's challenges: We also outline skills he's doing well with. That's important information for your child's educational providers, because they're often able to use your child's strengths to help him learn and overcome his challenges.

    For instance, some children are very visual learners—they may not have very good language abilities and don't understand if you explain something verbally, whereas using a picture can help them instantly grasp a new idea. Other children may not make good eye contact, but may be able to listen well and understand spoken requests and explanations.

    Behavioral therapies and teaching approaches for children with ASDs

    Behavioral therapies are used to help children with ASDs build language, social and play skills. There are a variety of approaches, but experts agree that programs should have several important features:

    • Appropriate therapies should start as early as possible.
    • Therapies should be intensive and highly structured, with highly trained, specialized therapists working with children one-on-one or in very small groups.
    • Families should be actively involved; there should be support and training for your family.
    • The effectiveness of your child's therapy plan should be evaluated frequently, so that changes can be made if needed.

    There are a number of specific approaches. For example:

    Applied behavioral analysis (ABA) is frequently used for children with ASDs. It involves identifying the behaviors that need to be reduced and the ones that need to be built. Your child's therapist breaks down new skills into small, incremental steps, so that over time your child can build more complex skills. The approach involves practicing skills repeatedly and creating positive reinforcements for your child. The program is highly individualized based on your child's interests, abilities and behavior. ABA is a well-studied therapy, and research shows that it can be very effective in helping children with ASDs.

    DIR®/Floortime™ (Developmental, Individual difference, Relationship-based) is another commonly used approach. This therapy is built specifically around interactions between the therapist and your child, with the aim of improving your child's social skills. Other relationship-based therapies include SCERTS® (Social Communication, Emotional Regulation and Transactional Supports) and RDI (Relationship Development Intervention).

    There are also a number of strategies for teaching children with ASDs in the “least restrictive environment”—in mainstream settings rather than in separate classes. For example, components of a program called TEACCH (Treatment and Education of Autistic and Communication related handicapped Children) can be very helpful in helping a child succeed in a mainstream classroom. These strategies include using visual schedules along with a structured and predictable routine.

    Generally, therapists use a combination of approaches—such as the structured approach of ABA along with the interactive play methods of Floortime—in order to address your child's unique social, behavioral, communication and academic needs. The goal is to develop a program that will help your child reach his full potential.

    Tools for communication and movement

    Your child's treatment program may also involve a number of other components:

    • Speech-language therapy can help your child understand language and use it to express himself.
    • Total communication interventions are a type of speech therapy that can help your child use any possible means of communication—including vocalizations, pictures, gestures and sign language.
    • Occupational and physical therapy may develop your child's skills in using his hands and other parts of his body and help your child deal with sensory inputs from his environment.

    At Boston Children's, your child may get occupational and physical therapy in the Occupational Therapy Service and Physical Therapy Department.

    Communication therapies are offered in the Boston Children's Center for Communication Enhancement, which has a wealth of experience in working with children who have ASDs. This department includes:

    Treating associated symptoms

    If your child has other conditions associated with his ASD diagnosis, such as hyperactivity, attention problems, anxiety or seizures, his ASD team may work with professionals in a variety of departments at Boston Children's who are experienced in providing care for these other conditions. These include specialists in:

    Treating these problems may help your child with some of the symptoms of his ASD, as well. Often, these treatments help by managing symptoms (such as hyperactivity, anxiety or anger) that are getting in the way of a child's ability to make progress in behavioral therapy or to sustain social interactions.

    Medications are often used in treating these associated problems. So while there's not currently a medication to treat the core symptoms of ASDs, medications are often very effective in treating related symptoms. That, in turn, can make behavioral treatments for ASDs much for effective for your child.

    Your child's education

    Most of the educational therapies used to address the core symptoms of ASDs are provided through programs run by your state and your local school system.

    Children under age 3 who have ASDs or other developmental challenges are eligible to receive developmental therapy through state-run, federally mandated programs. These programs have different names in each state. In Massachusetts, the program is called Early Intervention. It, along with additional Specialty Services, is administered by the Massachusetts Department of Public Health. The services your child receives are guided by an Individualized Family Service Plan (IFSP).

    Once your child turns 3, special education services are provided through your local public school system. These services are guided by an Individualized Education Plan (IEP) written for your child.

    Your local school system can provide services even before your child is old enough to start kindergarten. These are provided through specialized preschool programs, and sometimes through home-based therapies.

    There's no one educational approach that's best for every child. Your child may need to learn in a special classroom, or he may be part of a regular class and get special assistance there. Different children will also need different related therapies, such as occupational or behavioral therapies.

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

    Our team at Boston Children's includes ASD resource specialists and will provide specific recommendations for educational strategies and therapies for your child, and guidance on how to put that plan into action.

    Ongoing care from your child's ASD team

    As your child grows up, his abilities and the therapies that he needs will probably change. So we've shifted our focus to not only providing your child's initial assessment, but following him closely as he grows us. This ongoing relationship between our team at Boston Children's and your family also provides opportunities for you to discuss with us any questions that you have as time goes on.

    Our team at Boston Children's will see your child periodically as he grows up to:

    • see how your child is developing and how his therapies are working for him
    • make new recommendations for education and therapy
    • keep an eye out for any related medical concerns
    • discuss any questions and concerns you have

    Our goal is to support you and your child so that he can gain the skills he needs to have an active and happy life.

    Coping and support

    The diagnosis of an autism spectrum disorder can feel overwhelming, and you probably have a lot of questions on your mind. Why did this happen to my child? What do we do now?

    Our team at Boston Children's Hospital is dedicated to supporting you as you cope with your child's diagnosis and navigate his care. We'll make specific recommendations for therapy plans for your child and provide guidance for accessing those therapies in your community.

    This list outlines some of our resources at Boston Children's and in the wider community:

    Resources at Boston Children's

    Resource specialists, social workers and mental health professionals: If your child is diagnosed with an ASD at Boston Children's, a resource specialist connects with your family to help you access resources in your community and put into action the plan that your child's medical team has recommended. This isn't just a one-time contact, but an ongoing relationship to support your family as your child grows up and his needs change.

    Social workers and mental health professionals at Boston Children's have helped many other families in your situation. We can offer counseling and assistance with issues such as coping with your child's diagnosis and the stresses that can come as you deal with his condition and the services he needs. Social workers can also help with issues such as dealing with financial difficulties and arranging transportation.

    Parent to parent: Want to talk with someone else whose child has an autism spectrum disorder? We can often put you in touch with other families who have been down a similar road and can share their experience. Several Boston Children's programs that provide care for children with ASDs also offer a variety of family support groups. Your child's care team can tell you about any groups that may be helpful to you.

    On the Boston Children's For Patients and Families site, you can read all about:

    • getting to Boston Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available to your family

    Resources in Massachusetts and New England

    Autism Support Centers throughout Massachusetts provide support and information on health care, education, community agencies, funding sources and other services. These groups often also offer workshops for parents, family support groups and specialized programs for children and young adults. You can find the Autism Support Centers on the Autism Consortium Family Resource Database.

    These resources on education and Early Intervention are helpful for families who live in Massachusetts:

    • The Federation for Children with Special Needs provides an extensive manual on education for children with special needs, “A Parent's Guide to Special Education” (pdf), at their website.
    • These websites give information on Early Intervention in Massachusetts, a service available to families of children with developmental difficulties between birth and age 3:
      • The Massachusetts Office of Health and Human Services provides detailed information.
      • Information is also available at MassResources.org.
      • Family Ties of Massachusetts manages a listing of Early Intervention programs and other resources around the state.

    If you live outside of Massachusetts, our team can direct you to helpful resources.

    National organizations and agencies

    Autism Speaks is an organization that offers a wide range of information and support services. Their 100 Day Kit is a comprehensive guide aimed at giving your family the information you need immediately after your child is diagnosed with an autism spectrum disorder.

    The Autism Society of America offers information and support to families through the national organization and their regional chapters.

    The Centers for Disease Control and Prevention (CDC) provides extensive information about ASDs at their website.

    The links listed here offer an enormous amount of information, and we hope they're helpful to you and your family. We know, too, that all of this can often feel like too much information, and it can be hard to know where to begin. We encourage you not to feel like you have to read everything at once, but to look specifically at the resources that are most helpful for you at the moment, and to return to others later, when you need them. Our team at Children's can also help guide you to the resources that will be mos helpful to you in your particular situation.

    Support for families, one email at a time

    Professionals and parents in our Developmental Medicine Center created a series of 28 emails that can be sent to parents throughout the first year after their child's diagnosis. Each installment contains:

    • information about ASDs
    • answers to questions parents often wonder about
    • new research findings
    • helpful resources
    • notices of upcoming events

    This free service provides information that's carefully timed for parents as they start to navigate the implications of their child's new diagnosis. It also helps our team in the DMC to develop a rich and supportive relationship with families.

    Tools for communication

    In Boston Children's Augmentative Communication Program, speech-language pathologists, occupational therapists and computer specialists use innovative strategies to enable children who are non-speaking, or whose speech is severely impaired, to communicate.



  • Research & Innovation

    At Boston Children’s Hospital, our care is informed by our research. To tackle autism spectrum disorders (ASDs), researchers throughout the hospital are conducting a wide variety of studies to understand what triggers ASDs, find ways to diagnose them early and identify the most effective treatments.

    A network of ASD researchers

    A child with an ASD can have a broad range of symptoms, and ASDs affect children in strikingly different ways. Autism spectrum disorders, in short, are incredibly complex.

    Research is showing us that there’s a reason for that complexity: ASDs can be brought on by a long list of different triggers, which create a variety of problems in how brain cells connect and how those connections change as we grow and learn. And it looks like those varied problems in cell connections can all produce some form of the symptoms that define ASDs—difficulties in social interactions and communication and restricted behaviors.

    Boston Children’s researchers from many different fields are working together to make strides toward understanding autism spectrum disorders. Our autism researchers include:

    • geneticists, who are:
      • looking for DNA changes that are associated with ASDs
      • developing new genetic tests to help diagnose ASDs
    • neurologists, who are:
      • studying changes in the molecules and cells of the brain that may be the basis for the symptoms of ASDs
      • conducting clinical trials of new drugs aimed at reversing symptoms
    • psychologists and developmental behavioral pediatricians, who are:
      • studying the behavioral symptoms of children with ASDs
      • looking to see whether the DNA changes found by geneticists match specific behaviors
      • searching for early signs of ASDs, so these conditions can be caught very early in life
    • speech-language pathologists, who are developing new ways to help children with ASDs communicate and learn effectively
    • neuroradiologists, who are looking for ways to view changes in children’s brains using imaging scans
    • informatics experts, who are developing new methods for interpreting genetic information and brain imaging scans

    In particular:

    • The Laboratories of Cognitive Neuroscience at Boston Children's Hospital are engaged in  research with an aim of achieving earlier diagnosis, better treatment, and better outcomes overall for children and families affected by autism spectrum disorders.
       
    • The laboratory of Charles Nelson, PhD, research director of the Developmental Medicine Center, is looking for subtle signs that could identify high-risk children in early infancy so that therapy could be started right away. To do that, they’re studying babies’ brain activity and behaviors like where their eyes move when they look at a face. Their latest data suggest that some of these measures can identify high-risk infants as early as three to six months of age.
       
    • A lot of children with ASDs also have sleep problems. Given that good sleep is crucial to a child’s learning and behavior, Boston Children’s researchers want to know how sleep problems may contribute to children’s ASD symptoms. Psychologist Ellen Hanson, PhD, and neurologist and sleep expert Kiran Prasad Maski, MD, have joined forces to study the sleep, learning and memory of children with ASDs. Their goal is to get information that will help clinicians optimize the learning potential and quality of life of children with ASDs.
       
    • Many researchers believe that autism may be caused by abnormalities in connections between brain cells. In particular, those connectivity problems may come up at certain “critical periods” in a child’s development—times when brain cells tend to make a lot of changes in their connections as a part of normal development. Takao Hensch, PhD, and others are studying how this re-wiring process happens in mice, and how drugs could be used to adjust it.

    Uncovering the genetic basis of ASDs

    Boston Children’s geneticists and informatics experts are leading a number of studies to uncover genetic changes that lead to autism spectrum disorders. These efforts are led by researchers including Chris Walsh, MD, David Miller, MD, PhD, Dennis Wall, PhD, Isaac Kohane, MD, PhD, and Louis Kunkel, PhD.

    Several genetic changes have already been found to be associated with some children’s ASDs. But what’s not yet clear is whether a specific DNA change means that a child is going to have specific types of behavior or whether certain therapies are going to be more effective for them. So Hanson and others are working to understand the cognitive abilities and behaviors of children with certain DNA abnormalities.

    Broad lessons from rare diseases

    One promising avenue of research involves studying rare neurogenetic disorders. While ASDs have many different causes, there are a handful of rare disorders that have autism-like symptoms or that can cause ASDs, and that are each caused by a single DNA change. These conditions include:

    Some experts believe that these disorders—which lend themselves to study because they’re caused by known DNA changes—may be key to understanding the whole autism spectrum.

    Boston Children’s specialists have played a major role in studying these conditions and caring for children who have them. And now, several of our teams are pursuing drug trials in the hopes of reversing some of the autistic symptoms these patients experience. These represent some of the very first trials aiming to treat the core symptoms of autism spectrum disorders.

    The best possible care for children—today

    Of course, if your child is being evaluated for ASDs or has already been diagnosed, the most important advances are the ones that are already having an impact on clinical practice. And indeed, from early screening to treatment, Children’s specialists are pushing forward the boundaries of care for ASDs:

    • Boston Children’s provides advanced genetic testing, including chromosomal microarray (CMA) testing, to identify possible genetic causes of your child’s autism and catch related conditions. Experts led by Children’s medical geneticist David Miller, MD, PhD, published a consensus statement on the importance of using this test as a standard part of assessing a child who has an ASD.
    • A number of innovative therapies for children with ASDs are offered here at Boston Children’s. In the Center for Communication Enhancement, for example, specialists use a variety of creative approaches to help children communicate and learn to the very best of their abilities.
    • Boston Children’s pediatricians have implemented early screening programs in our primary care practices. We’re also giving other providers the tools they need to screen their patients for ASDs and other developmental problems through an online tool kit.

    Spotlight on: The Laboratories of Cognitive Neuroscience at Boston Children's

    Under the direction of Charles A. Nelson, PhD, the Labs of Cognitive Neuroscience at Boston Children's Hospital are dedicated to furthering understanding of brain and cognitive development in typically developing infants and children, as well as children diagnosed with or at risk for ASDs and various developmental disorders.

    Autism in the news

    Are closely-spaced pregnancies associated with autism? Our doctors weigh in.

    Software gives patients a voice

    Howard Shane, PhD, director of Children’s Autism Language Program (ALP), knows that kids love technology.

    In 2009, Shane and his colleagues conducted a survey that revealed that U.S. children with autism spectrum disorders spend more time with electronic media than they do with all other forms of play combined. Shane and his team harness that interest, making use of technology to help children communicate and learn.

    The ALP’s philosophy is that when the right technology doesn’t exist, they develop it. They’ve created a number of different software programs for children with ASDs, including:

    • Puddingstone Place, an interactive virtual environment—rich in sound, graphics and animation—designed to help children learn and communicate independently
    • Teaching Language Concepts (TLC), a program in which children create sentences using images
    • ALP Animated Graphics, a set of graphic depictions for action verbs and prepositions that can be used with TLC or any other communication or learning application that accepts media files

    The group also knows that visual tools such as picture schedules and video modeling are often useful teaching tools for children with ASDs, but creating these materials can be a real challenge. So Shane and his colleagues are finding new ways to help parents, teachers and therapists create the visual supports their children need and use them effectively. They recently completed a new software program that makes it easier for parents and teachers to make videos to help them teach their children new skills. They’re also field testing a new iPhone app that makes building visual schedules simpler.

    Rett syndrome, brain development and autism

    Chinfei Chen, MD, PhD, of Children's F.M. Kirby Neurobiology Center researched how patients with Rett syndrome develop normally until they turn 12 to 18 months of age, when they start experiencing autistic symptoms. Chen studied a genetic mutation that leads to Rett Syndrome, and found it prevented proper growth of synapses that help the brain to interpret the environment.


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