MUSC Children’s Health Psychologist Discusses Autism, Its Early Symptoms and Therapies

Autism is a brain-based disorder that affects how a child develops. Symptoms range from mild to severe and are described as a spectrum. Dr. Laura Carpenter, a clinical psychologist in MUSC Children's Health's Division of Developmental Behavioral Pediatrics, says there may be many types of autism and many pathways to developing the syndrome. A professor of pediatrics and psychiatry at MUSC, Dr. Carpenter answers questions about this perplexing condition and dispels some commonly held myths about its cause and its symptoms.

Note: Some people prefer the term "people with autism" while others prefer "autistic people" especially autistic adults. We have chosen to use both terms in this article depending on context.

Q. What are the characteristics of autism?

A. Autism includes two symptom clusters. The first cluster includes difficulty with social communication skills, verbal and nonverbal expression, making eye contact and using facial expressions, developing friendships and understanding the unwritten rules of social behavior communication. A second cluster, called restricted and repetitive behavior, is characterized by symptoms like intense interest in certain objects, significant behavioral or mental rigidity, difficulty with change and being overly or under sensitive to touch or sound.

Q. What are early symptoms of autism?

A. The earliest symptoms are identifiable around 12 months of age and sometimes can be diagnosed as early as 15 months of age. Some of the earliest symptoms include:

• a lack of warm back-and-forth facial expressions
• failure to point and use other gestures like waving and nodding
• failure to look at what a parent is looking at or pointing at
• difficulty doing actions with objects, such as pretending to stir something or to feed a stuffed animal
• no response to name

Q. Is delayed speech a sign of autism?

A. No. The medical community has moved away from using speech delay as a sign of autism and is focusing more on social and play skills as concerns rather than speech itself.

Q. Are all children with autism intellectually delayed?

A. No. It is more common in autism to see big splits in skills where people will have difficulty in one area and average or even superior skills in another. In autism, those more superior skills are often in a non-verbal domain. Autistic people can see objects spatially and how they fit together. I have patients who can complete a 500-piece puzzle upside down. One of the gifts of autism is intense special interests that can lead to high levels of achievement, such as in art and computer programming.

Q. When and how is autism diagnosed?

A. Some children can be diagnosed accurately as early as 15 months, but others take longer as symptoms become more obvious. Pediatricians are supposed to screen for the disorder at well-baby visits for 18- and 24-month-olds. Early intervention is so powerful. We think the younger children are, the more plastic their brain is and the more of an impact therapy can have on their developmental trajectory. Our goal is to get them diagnosed as early as possible and started on therapies to help them lead the life they want to lead. It makes an enormous difference for people with autism.

Q. Is the incidence of autism increasing?

A. We aren't sure. The prevalence has increased dramatically, partly because of heightened awareness beginning in the early 2000s. Someone born before the early 2000s might not have been diagnosed unless symptoms were obvious. Now we are more aware of much more subtle symptoms of autism.

Q. Is autism more prevalent in boys or girls?

A. For every 1 girl, 3 to 4 boys are diagnosed with autism. A combination of biological and social factors is driving that difference in prevalence. Boys are more vulnerable developmentally and have more developmental disorders in general. We also think it's possible girls are not being identified at the rate of boys because of social factors. Caregivers may be less concerned about autism in girls and may attribute social delays to shyness. Classic autistic symptoms, such as an obsession with vehicles, are more likely to occur in boys, while girls may be obsessed with a person or character.

Q. What causes autism?

A. There's a lot that we don't know. We do know for sure that vaccinations are NOT associated with autism. Certain genetic disorders, such as fragile x, are clearly associated with autism, and we know that genetics and epigenetics play a role. Pre- and perinatal risk factors such as having older parents and being born prematurely also increase the risk of having autism.

Q. What should I do if I suspect my child has autism?

A. First, talk to your pediatrician, who should provide valuable information. If you have significant concerns and people are not listening, seek another opinion. Parents are accurate when it comes to their child's developmental concerns. They shouldn't ignore a nagging feeling that something isn't right.

Q. What treatments or therapies are available for autism?

A. Most young children will need speech therapy, occupational therapy, and Applied Behavior Analysis therapy. ABA is based on principles of learning and behavior and breaks skills down into small steps. Twenty to 40 hours each week are recommended. Many insurance programs and Medicaid cover ABA therapy once autism has been diagnosed. Cognitive behavior therapy and social skills training can benefit older children. Medications can be helpful with sleep problems, as well as behaviors such as hyperactivity, irritability and aggression.

Q. What can parents do to augment treatment?

A. Parents should be involved at every step of the therapeutic process, especially for young children. The ideal model includes some training for parents so they can work with their children. Giving parents those specialized skills to work and connect with their children is an important part of therapy.

Q. What resources are available for parents?

A. Help may be available at no cost to parents. In South Carolina, parents can contact BabyNet, the state's early intervention system, for information on therapies and a brief assessment of their child’s development. If a child is over 3, parents should contact their local school district. A useful resource nationally is Autism Speaks.

Q. Can people with autism live independently?

A. Absolutely. Autistic people marry, have jobs and make important contributions to society. We want to make sure that autistic people have a voice in all aspects of autism, including research, treatment and policy. Much effort nationally is going into helping autistic people to find their voice and become leaders in the autism field.

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SPARK study seeks to enroll people with autism and their families

MUSC is participating in a nationwide study designed to develop personalized medicine for people with autism and strengthen support for families.

"We want to figure out the various pathways that lead to autism" Dr. Carpenter says. "Right now, the medical community has the same recommendations for nearly everyone, but autism appears in multiple forms. If we can figure out all the pathways that lead to autism, we can offer better therapy and support."

The study is collecting genetic information from people with autism, their biological parents and 1 sibling. 35000 people with autism have already participated.

"That will give us the richest information about what might be causing autism," she says. "We know close to 200 genes are associated with autism, but we believe there are hundreds of genes that haven't yet been identified."

SPARK also has a program, Research Match, that links researchers with families who want to participate in other research studies.

A recent Research Match study conducted by MUSC examined access to parent behavior training. An upcoming study will focus on sexual health in autistic young women with the goal of designing better sex education programs for girls.

Interested people can call or text 843-714-1352 and visit SPARK for more information.