Autism spectrum disorders (ASDs)

At Children’s Hospital Boston, 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.

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. Read more about their work in Arresting autism.
   
• A lot of children with ASDs also have sleep problems. Given that good sleep is crucial to a child’s learning and behavior, 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

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. To learn more about their work, read Autism: Finding the genes behind the disease and A blood test for autism?.

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:

• tuberous sclerosis complex
• Rett syndrome
• Fragile X syndrome
• Angelman syndrome

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.

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.

Read more about these exciting developments in Can drugs improve cognitive deficits in developmental 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:

• 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 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.
• 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.