Since he was a baby, John would lie awake in his crib long after being put to bed. His twin brother, James, fell fast asleep in minutes, while John babbled, giggled and played for hours before finally nodding off. Even then, sleep proved tenuous. Often, he woke up at two in the morning and stayed up for two to three hours, says his mom, Lynetta Hill, of Hillsboro, Tenn.
Then, when John was two and a half, he climbed out of his crib during naptime. His mom found him happily playing in his room. But from then on, she worried that he’d climb out during the night and get hurt. She began setting her alarm to ring every 15 minutes so she could glance at the baby monitor to see if he was still in his crib. “That very quickly pushed me to the limit of sleep exhaustion,” recalls Hill. She also worried that if she was exhausted from the interrupted sleep, John was probably suffering too.
John’s lack of sleep wasn’t Hill’s only concern. When he was about 18 months old, she and her husband, Aaron, started to worry that John wasn’t talking nearly as much as James. Thinking back, Hill says, John didn’t seem to understand words well either. “Sometimes, when we asked him to pick up his toys, he would look at us with a blank expression,” she says. They took John for a speech assessment, and the speech therapist urged further testing. Just shy of his third birthday, John was diagnosed with autism spectrum disorder (ASD).
After his diagnosis, John began attending a special education preschool and receiving speech therapy at Vanderbilt University School of Medicine, an Autism Speaks Treatment Network (ATN) site, in Nashville. Hill worried that John’s disrupted sleep would limit his ability to benefit from the programs. He acted more distracted and cranky when he was really tired. “There were times when I picked him up from school and the teacher told me he had climbed in a teacher’s lap and fell asleep,” she recalls. “The whole point of him going to school is to learn. If we’re sleeping there, we’re not learning.”
When Hill learned about a Vanderbilt sleep study for children with autism, she didn’t hesitate “I was desperate and sleep deprived and wanted all the help I could get,” she recalls. At age 3, John became one of 80 children to participate in the study, funded through the ATN Autism Intervention Research Network on Physical Health (AIR-P).* The researchers would test the effectiveness of behavioral strategies for improving sleep in children with ASD.
Another scientist enters autism research
Beth Malow, M.D., M.S., led the Vanderbilt study. Then as now, Dr. Malow directed Vanderbilt’s ATN center as well as its Sleep Disorders Division. She is professor of neurology and pediatrics at Vanderbilt and the Burry Chair in cognitive childhood development. She also has two school-aged boys with autism.
“I feel attached to these families with autism because I live their story,” she says.
Trained as a neurologist, Dr. Malow became intrigued with sleep disorders while treating adults with epilepsy. She found that when their sleep improved, they had fewer seizures. “I was really impressed that sleep could make a big difference in a neurological disorder,” she says.
Dr. Malow’s firsthand experience with autism began in 1999. Pregnant with her second child, she became concerned about her older son, then 2 years old. “He didn’t really talk or communicate his needs,” she recalls. “We noticed that when we’d go to a playgroup, he would tend to be interested in objects rather than interacting with the other kids.” The red flag for the family pediatrician was that this 2 year old didn’t respond to his name. A full evaluation brought a diagnosis of ASD.
“I was really shocked and remember doubting the diagnosis,” she says. “He didn’t seem to be the kind of child who would be in his own little world. But at the time I wasn’t aware of the spectrum of autism.”
With her second son, Dr. Malow didn’t sense any developmental delay. “I really didn’t think my younger child was on the spectrum because he was much more animated and interactive and didn’t have any repetitive behaviors,” she says. “I remember my older son’s speech therapist saying to me, ‘get your younger child checked out,’ and I was like, ‘checked out for what?’” She listened, though, and the evaluation led to another autism diagnosis.
Like many parents at the time, Dr. Malow, knew little about ASD. As she began to educate herself about the disorder, she realized that sleep issues were common in individuals with autism. “Two thirds of children with autism are affected by disrupted sleep and it can be severe,” she says. “It can affect the child’s behavior at school, in therapy and in the home and can be a major stressor for the families.”
Though her older son didn’t have trouble falling asleep, her younger son often had insomnia and would wake in the middle of the night frightened. She and her husband, Stephen Pert, tried behavioral strategies. They created a relaxing bedtime routine; made sure he was active during the day and kept a night light in his room. They tried the “bedtime pass.” Their son could use this “ticket” once, say, to get a glass of water or a hug. Or, he could hold onto it and trade it in for a present in the morning. The bedtime pass turned out to be very helpful in providing him with a sense of control and easing his anxiety.
Through her research on autism and sleep, Dr. Malow had become familiar with these strategies, many of which would eventually make it into the ATN/AIR-P sleep tool kit. “What really impressed me was that just doing a few behavioral strategies made a huge difference for him,” she says.
“My son helped me realize what many parents go through, though I do feel what we experienced was fairly mild compared to what I hear from other parents,” Dr. Malow says. “Some say their child sleeps for three to four hours and then they’re done sleeping.”
As she approached autism sleep issues, she kept in mind how improved sleep had reduced seizures in her epilepsy patients. “I realized that the potential is there to make a difference in how kids with autism functioned by treating the sleep problems,” she says. At the time, few researchers had studied sleep problems in children with autism. Most of what was known came from parent reports. By 2004, Dr. Malow had shifted the focus of her research to sleep issues in children with autism. She became the co-chair of the ATN sleep committee in 2008 and later co-authored the ATN/AIR-P sleep tool kit for parents.
“Her special focus on autism makes her stand out because so few sleep specialists have this focus,” says Dan Coury, M.D., medical director of the ATN. Since 2004, Dr. Malow’s sleep research has followed two paths – one that examines the effectiveness of behavioral treatments and another that investigates promising medications.
The sleep study
As part of the sleep study’s enrollment screening, Hill’s three-year-old son, John, wore a monitor that measured his activity level in bed. The small device fit into his pajama pocket, secured with tape. It allowed the researchers to measure how long it took each potential study participant to fall asleep. They enrolled those who, on average, took longer than 30 minutes – 80 children in all.
Their parents and caregivers received either one-on-one training or group training with a sleep educator. The Hills received the one-on-one training. They met with the sleep educator once, for about an hour. She taught them a number of behavioral tactics such as reducing his nap time, limiting caffeine (colas and chocolate) and having a calming bedtime routine.
After about a month, the researchers broke out the sleep monitors to retest the participants. John was falling asleep in significantly less time. “He can fall asleep in less than an hour,” Hill says. Just as important, he doesn’t wake up as frequently at night, though his night awakenings tend to go in cycles, she says. “I can definitely tell a difference because he used to be less attentive, more distracted and would not sit still for as long.” Hill also notices a difference in herself – fewer days of “grumpy mommy,” she says.
Preliminary analysis of the study suggests that the one-on-one and group training were equally effective, Dr. Malow says. At the end of the study, around 30 percent of the children were falling asleep within 30 minutes of going to bed. Like John, many of those who took longer to fall asleep were doing so in significantly less time than before the intervention.
“Very few did not benefit at all,” says Dr. Malow, who’d like to find ways to improve the parent training further.
One of the ATN’s overarching goals is to spread the word about the effectiveness of approaches for treating medical issues related to autism, she adds. To that end, the ATN Sleep Committee drafted evidence-based guidelines for physicians on how to manage insomnia in children with autism. The guidelines were published in a special supplement of the medical journal Pediatrics this month.
“In these guidelines, we suggest that when doctors think about treating these kids, the very first step is to use educational and behavioral strategies with parents rather than jumping to medications,” Dr. Malow explains. “We’d like to avoid using medications as much as possible because they have side effects and interact with other drugs that children with autism may be taking.”
As they were writing the physician guidelines, Dr. Malow and the other committee members also realized they needed to get the information directly into the hands of parents and caregivers. The idea of a sleep tool kit was born. In February 2012, they published the ATN/AIR-P “Sleep Strategies for Children with Autism: A Parent’s Guide.”
“So far the feedback has been that the tool kit is very helpful,” says Dr. Malow. But, parents have suggested that it would work even better if they could use it in conjunction with a class or one-on-one counseling. To this end, the sleep committee is writing a companion manual for healthcare providers and therapists. The committee is also expanding the tool kit for parents, with more detailed advice.
Beyond behavioral approaches
For some children with autism and disordered sleep, behavioral approaches aren’t enough. Some doctors prescribe insomnia medications. Many parents experiment with supplements containing the hormone melatonin. That worried Dr. Malow as there had been little research on the safety and effectiveness of these medicines and supplements in children – let alone in children with a neurodevelopmental disorder such as autism.
Seeing the tremendous need, in 2006 Autism Speaks and the National Institute of Child Health and Development co-funded Dr. Malow to conduct a pilot study using melatonin to treat insomnia in children with autism. The participating children ranged in age from 3 to 9 and took melatonin in a range of dosages (1-6 mg) nightly for 14 weeks. Published in the Journal of Autism and Developmental Disorders, the study found that melatonin helped all the children fall asleep within 30 minutes five or more nights a week.
Melatonin has not been tested in large clinical trials, Dr. Malow is quick to add. She urges that parents use the remedy with children only under the guidance of a physician.
Meanwhile, the next ATN/AIR-P clinical trial will look at whether iron supplements can ease insomnia in children who have insomnia and low iron levels. Ann Reynolds, M.D., associate professor of pediatrics at University of Colorado in Denver will lead the study, with Dr. Malow as the sleep co-investigator. Many children with autism are picky eaters, Dr. Malow notes, and some are on restrictive gluten-free/casein-free diets. This predisposes them to having low iron, which can contribute to a sleep-disrupting condition called restless leg syndrome.
In addition, many children with autism have associated medical conditions that can disrupt sleep. These include epilepsy, anxiety and painful gastrointestinal disorders. In a cruel Catch-22, some of the medications prescribed for these conditions may themselves disrupt sleep.
The mission of Autism Speaks ATN is to address these complexities using a “whole person” model of medical care, Dr. Malow notes. To do so, each center’s healthcare team strives to address medical, cognitive, social and behavioral issues in a coordinated manner. At Vanderbilt, for example, specialists meet monthly to discuss coordinated care for each patient. In addition, online “message baskets” allow a patient’s medical team to communicate on a daily basis.
As director of the Vanderbilt ATN clinic, Dr. Malow also trains incoming specialists, including psychiatry residents, sleep fellows and developmental pediatricians in the nuances of autism-related medical care.
At home in research and the exam room
Dr. Malow says she inherited her love of research from her father, a retired chemical engineer, and her brother, a psychologist involved in HIV prevention. “They were really big role models for me in terms of the excitement of scientific research and discovery,” she says. “As a physician, I knew it was really special to help a patient, but to be able to do research and disseminate it widely to help many people was really exciting to me. Even as a medical student reviewing charts, I was thinking about what I could contribute to the medical literature.”
Karen Adkins, R.N., a project manager who has worked with Dr. Malow for eight years, puts it this way: “I think she’s found her calling – she knows what her passion is and gets to do that as her work.”
Though deeply involved in autism research, Dr. Malow reserves one day a week for patients. She continues to care for adults and children with a variety of sleep disorders.
“Seeing patients really keeps me focused on what’s important,” she says. “I love the challenge of doing something that has enormous benefits for these families…. I especially love taking care of the kids on the spectrum – they’re very special. They have a focus, brilliance, and honesty. They look at the world in a very different way.”
She views her own boys, now 11 and 14, with the same admiration. “They have a real honesty and sense of justice,” she says. “When one of the girls on their school bus was being bullied, my older son stood up to the bully,” she says by way of example. Both boys are doing well in general-education classrooms. At home, they sleep in bunk beds in the same room, a move that has eased her younger son’s anxiety and improved his sleep.
Despite the demands of her research and clinical practice, Dr. Malow heads home by 6 pm most days. She cherishes the evenings she spends with her family, as well as time to exercise and sing with Metro Nashville Chorus, a chapter of the international a cappella group Sweet Adelines.
She even manages to get seven hours of sleep a night.
Not surprisingly, she says, “I’m a pretty ardent believer that sleep is really important.”
Here's a video of Dr. Malow, describing her work with the ATN sleep committee.
* Under the Combating Autism Act, the Maternal and Child Health Bureau of the Health Resources and Services Administration funds the ATN to serve as the Autism Intervention Research Network on Physical Health (AIR-P) and conduct research projects that can improve the health of children and adolescents with autism spectrum disorders (ASD) and other developmental disabilities. This work is supported by cooperative agreement UA3 MC 11054 through the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Research Program to the Massachusetts General Hospital.
You can learn more here. Please follow these links for more information on the ATN, the AIR-P and their tool kits for families and professionals. Please also see these recent Autism Speaks news stories and blogs about Dr. Malow’s research. You can explore these and related Autism Speaks projects using this website’s Grant Search. Finally, we invite you to meet more of the researchers and families in these recent feature profiles.