Taking Note of Autism
Written by Leslie Hill
It’s Saturday, Feb. 26, and this is 17-year-old Morgan Vice’s day:
Sing a song
But at her basketball game, things start to derail. “Too much game,” Morgan insists over and over after she plops down on the bleachers. Her mother, Tammy, digs in her purse for a crumpled yellow sticky note and writes the schedule down again, adding a new item to hopefully improve Morgan’s mood – ice cream.
Hearing that, Morgan immediately interjects, “Too much shopping!”
Tammy laughs. “She thinks we’ll have to go buy the ice cream.” She clarifies the item to ice cream restaurant.
“We learned to write it down for her. So many things are out of her control, and it lets her understand what is next,” Tammy said. “The schedule is so important, but then we can get dependent on it and if the littlest thing changes, it can blow our world.”
“But that’s autism.”
Under-identified and misdiagnosed
At its simplest, autism is a neurogenetic disorder that affects communication and behavior. But anyone who knows a child with autism will attest that it is so much more complex than that.
“We say often that if you’ve seen one individual with autism, you’ve seen one individual with autism,” said Zachary Warren, Ph.D., director of the Treatment and Research Institute for Autism Spectrum Disorders (TRIAD) at the Vanderbilt Kennedy Center. “All children with autism share difficulties regarding social interaction, communication and language, and behavior, but they vary widely in their individual abilities and challenges.”
Currently, Autism Spectrum Disorder (ASD) is an umbrella term that encompasses several different syndromes, the most common of which are Autistic disorder, Asperger’s syndrome and Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). Children with ASD are thought to fall at different points of the “spectrum” depending on the severity of their symptoms.
When autism was first described in 1943, it was considered very rare – about one in 10,000 – and virtually untreatable. The Centers for Disease Control and Prevention now estimates that one in 110 children in the United States has autism.
Warren attributes the increase in diagnosis to better awareness, changing criteria and factors that the scientific community does not fully understand.
“It wasn’t until 1994 that we commonly used specific diagnostic categories like PDD-NOS and Asperger’s disorder,” he said. “Prior to that, clinicians used a much narrower definition of autism. That does not mean individuals with ASD did not exist before, but they were much more likely to have been classified in another way.”
But many instances of autism are still under-identified and misdiagnosed.
“It’s hard because there is no genetic test or specific biomarker that can tell us an individual has autism. It is determined by clinical observation and information gathering and those methods can vary widely. Where we draw the line in terms of impairment impacts the number of individuals we identify as having autism.”
For the Vice family, Morgan’s autism diagnosis came at a time when autism wasn’t well known or well diagnosed.
Tammy and Rudy had been married for 10 years, their first daughter, Allison, was 8, and Morgan was celebrating her second birthday. They were living in Mobile, Ala., and had just built a brand new home.
“We were excited about the future and the possibilities,” Rudy recalled.
Morgan had been a typical toddler, into everything, always trying to engage her family and even speaking in four-five word sentences. But suddenly it seemed like she had retreated into a shell.
“We had just finished the house, and I spent well over an hour in her new room with her just trying to get her to make eye contact or do something to show me I was getting through to her,” Rudy said.
After months of visits with seven different physicians, genetic testing and a misdiagnosis of intellectual disability, a pediatric neurologist finally said it was autism.
“The worst time was not knowing,” Tammy said. “Some parents don’t like for their child to have the label, but I wanted to know what we were dealing with.”
They now had a diagnosis, but treatment programs were scarce in Mobile. Tammy, a songwriter, had been traveling to Nashville for work and heard about Vanderbilt through colleagues. She knew that to get Morgan the services she deserved, the family would have to move north.
Scratching the surface
The specific causes of autism are largely unknown and heavily debated, but strong evidence shows the disorder has genetic roots.
Autism occurs in about 1 percent of the population, but much more frequently in people who share genetic material. Siblings have an autism diagnosis 10 percent – 20 percent of the time, and identical twins, who have the exact same genetic material, share a diagnosis 60 percent – 95 percent of the time.
“That shows there is a strong genetic component in autism, but notice that even identical twins don’t share a diagnosis 100 percent of the time. That means that while autism seems to be tied to genetic architecture in a powerful way, such architecture is likely impacted by numerous complex additional biological and environmental factors,” Warren said. Environmental factors can include prenatal exposure to certain chemicals or infections or ingesting contaminated water or processed foods, although there is no scientific proof linking them to autism.
Vanderbilt investigators are part of several large international efforts to unravel the genetics of autism, including the Autism Genome Project. One study out of the Autism Genome Project – the largest of its kind – found that people who have autism spectrum disorder may lack or have extra copies of genes important to the development and function of the brain.
“These genetic discoveries are promising for developing new treatments or early diagnosis, but we are only scratching the surface right now,” Warren said. “The problem is one of numbers. Because there is so much variation on the spectrum, we really need larger sample sizes to tease out the genes that are involved.”
As a center on the cutting edge of autism care with highly experienced experts, Vanderbilt University is also part of the Autism Treatment Network (ATN) supported by Autism Speaks. This network of academic medical centers is dedicated to developing better ways to evaluate and treat children and adolescents with autism. Vanderbilt is one of 17 sites in the United States and Canada, and the only one in the Southeast.
“At Vanderbilt, we’re dedicating all our energy to providing children with autism the best care in a comprehensive and easy-access way,” Warren said. “We’re also conducting research in so many areas, with the hope of providing even better diagnosis and care to children in the future.”
Finding joy in life
Morgan has seen many facets of Children’s Hospital since her family moved to Nashville 11 years ago.
“She calls it the hospital hotel,” Tammy said. “She’s such a diva and loves all the attention she gets there.”
She has been treated for seizures and obsessive-compulsive disorder. For speech and occupational therapy, she goes to the Vanderbilt Bill Wilkerson Center, and she is involved in
genetic research at the Vanderbilt Kennedy Center.
Over time, Tammy has learned how to help Morgan through sensory issues, such as when the smallest disturbance – a change in her schedule or a smell she doesn’t like – can make her inconsolable, sometimes in public.
“When she’s melting down, it’s just about me and her getting through the situation. I don’t care who’s watching,” Tammy said. “A lot of times I walk over afterward and give them a card about autism. I was that person staring and judging in the grocery store once, and I just want them to know and be aware.”
Today Morgan is in 10th grade at Station Camp High School and stays active with the Raptors, a special needs sports league organized by Hendersonville Parks and Recreation. Though it can take her a while to warm up to new activities, Morgan finds a lot of joy in life. She loves trips to amusement parks, sledding during Tennessee’s rare snowfalls and riding a custom bicycle her grandfather built for her.
“Morgan has a wonderful sense of humor and loves a good belly laugh,” Tammy said. “She is quite a ham, and loves to be center stage when given the chance. She doesn’t mind letting you know how she feels, and if we’re hurting, she wants to help make it better.”
Niru Madduri, M.D., assistant professor of Pediatrics, said we often try to make children with autism conform to our social norms instead of embracing their individuality.
“We live in a society where everybody has to fit in this box and there’s an acceptable idea of how people need to be. We don’t realize that there is a uniqueness about these children with autism, and we just have to help them show their wonderful qualities and strengths.”
Madduri is part of the clinical team that provides autism assessments at all ages. The process starts with psychologists, who do comprehensive testing of a child’s IQ and developmental levels and determine if the child meets the criteria for diagnosis.
If diagnosed, a child is referred to the various services and programs available at Vanderbilt, including research studies at TRIAD, support groups and behavior workshops, physical or speech therapy and specialists for medical issues such as seizures and gastrointestinal disorders. Diagnostic tools are capable of providing an accurate diagnosis around age 2. But children in Tennessee often aren’t diagnosed until age 4 or 5, when they enter the public school system and their behaviors are more noticeable in a larger comparison group. Sometimes, before then, the child’s delays in communication are justified with the reassurance that “he or she will catch up.”
There is a huge push right now to diagnose children as early as possible because early intervention has been shown to bring improvements in communication and behavior.
“There’s a cognitive or developmental window where there’s an explosion of acquiring new skills, usually between 9 and 30 months. The brain is really starting to mature and make connections that determine how that child will function in the future,” Madduri said. “We try to implement as much intervention as possible and hopefully prevent a lot of difficulties in the future.”
Vanderbilt researchers, looking at a decade of studies on early interventions, have found, however, that much remains unknown about effective therapies and treatments for autism.
In a report published in May in the journal Pediatrics, Vanderbilt researchers looked at various behavioral, medical, educational and other interventions for children with ASD and found a few therapies, including two antipsychotic medications – risperidone and aripiprazole – show some positive results. However, they noted that the medicines should be reserved for children with severe impairment or risk of injury because of potential side effects.
But the investigators reveal a striking lack of evidence for a number of therapies used to treat children with autism, and they call for more studies to be done.
Rosie Pittman is the poster child for early intervention. From a baby who never babbled to a highly communicative 8-year-old, she shows the difference that autism programs and therapies can make in a child’s life.
Her mother, Chelle Baldwin, knew something was wrong with Rosie from birth.
“She was screaming bloody murder day and night and she never slept,” Chelle recalled. “We learned tricks, like wearing her constantly in a baby carrier. Turning on the vacuum was like a light switch – she would stop crying instantly. Turn it off and she was immediately crying again.”
Many of Chelle’s friends had babies at the same time, and it was evident that Rosie was trailing the pack, developmentally. She never babbled and didn’t start walking until she was 17 months old.
Chelle and her husband, David, learned sign language as their only way to communicate with Rosie for many years.
When she was 13 months old, Rosie was evaluated by a Vanderbilt social worker. Her overall skills rated similar to a 9-month-old, and she verbalized like a 2-month-old. She began physical and occupational therapy immediately through Tennessee’s Early Intervention Services, and started speech therapy a few months later.
Around her third birthday, Rosie was diagnosed with PDD-NOS at Children’s Hospital. Although every case is different, children often receive a PDD-NOS diagnosis when they have some autism symptoms but don’t meet the full criteria. They are usually placed at the “milder” end of the autism spectrum and typically have difficulties in social interaction and communication.
About the same time, Rosie entered the Vanderbilt Kennedy Center’s KidTalk program, an early communication intervention used as part of a research study.
“She was just starting to pick up on speech, and it was a real turning point for her. It finally gave her the tools to formulate her speech and get it out,” Chelle said.
Rosie also had a younger sister, Aly, who was just beginning to talk, and the combination was the perfect storm to help Rosie learn, socialize and play.
A slight wisp of a girl with a pixie haircut and wide, curious eyes, Rosie now thrives in a regular classroom with the help of an aide. Because she struggles with fine motor skills, she uses a word processor to type her schoolwork.
“She has trouble undoing buttons and still can’t tie her shoes, but she has a younger sister that does these things, and that pushes her,” David said.
After struggling with peer interaction earlier in the year, she now has the courage to ask classmates to play with her, though she still doesn’t fully grasp the social skills of play. She also struggles to adapt to change as do many children with autism.
“If she has something in her brain that she wants to do and it doesn’t work out, there is no recovery,” Chelle said. “It helps if she knows what’s coming, and we’ve worked a lot with ‘first and then’ statements so she knows what to expect.”
But Rosie is far from that early inconsolable, uncommunicative child.
“She is probably the most empathetic person you will ever meet. She has a really sweet demeanor and wants to love and hug,” Chelle said. “We cannot believe how far she has come.”
Success stories like Morgan’s and Rosie’s are not uncommon at Children’s Hospital and the Vanderbilt Kennedy Center. Madduri likes to modify the famous Neil Armstrong quote about his first steps on the moon: “One small step for us is like one giant leap for a lot of these kids.”
“We see children that finally learn how to talk at age 8 and haven’t said a word before then. And once they start, it’s like the floodgates have opened,” she said.
“These children have so many wonderful qualities. They have a natural tendency to want to grow and learn and communicate and be independent. We just have to foster that a little bit more and help them show their strengths.”
© 2016 Monroe Carell Jr. Children's Hospital at Vanderbilt