One of the first research grants ever awarded by the National Alliance for Autism Research (NAAR) as well as additional infant siblings studies funded by NAAR have contributed to an earlier diagnosis threshold for children with autism. Infant siblings studies, commonly called “Baby Sibs” studies, have helped enable clinicians diagnose autism as early as 18 months in some children. These valuable studies have also pioneered a way for clinicians to look at diagnosis using multiple methods, including social parameters and language development.
In 1997, NAAR awarded a $29,700 grant to Rebecca Landa, Ph.D., of the Kennedy Kreiger Institute & Johns Hopkins School of Medicine in Baltimore, MD to fund the pilot study, Core Deficits of Autism: Evidence from Infant Siblings of Autistic Probands, a case control project that employed innovative procedures to produce the first prospective study of siblings of autistic children ever undertaken. NAAR funded Dr. Landa's Baby Sibs work for three consecutive years before she leveraged her NAAR-funded pilot study into a much larger award from the National Institutes of Health.
The collective result of this work has helped form the basis for a larger-scale study that addresses the important clinical and theoretical questions about the causes, core symptoms and course of autism, with key implications for early intervention.
To date, NAAR has committed $700,000 to the Baby Sibs Project – one of NAAR's largest awards to a single project. Today, the Baby Sibs study is a multi-site project led by Lonnie Zwaigenbaum, M.D. at the Hospital for Sick Children in Toronto and at two other Canadian sites. Plans call for the expansion of the project to include additional sites in the U.S. Dr. Zwaigenbaum and his team leveraged his NAAR-funded pilot study into a larger grant by the Canadian Institutes of Health Research, Canada's federal health and medical research agency.
NAAR's commitment to Baby Sibs studies clearly illustrate the importance of NAAR-funded pilot studies and their role in accelerating the pace of research and furthering our understanding of the disorder and, eventually, finding a cure. It is also the latest example showing that supporting NAAR and Walk F.A.R. for NAAR is a sound investment.
To date, research initially funded by NAAR has been leveraged into more than $23 million in autism research awards by the National Institutes of Health (NIH) and other funding sources. Every $1 NAAR has committed to research has resulted in approximately $8 invested by the federal government and other funding sources in large autism research projects. * NAAR has been able to make these investments – in large part – through the success of Walk F.A.R. for NAAR.
*Based on NAAR research awards from 1997 – 2000 that have been leveraged into larger grants from the NIH and other sources. Most researchers funded in 2001 and 2002 are still conducting their NAAR-funded studies and have not yet applied for additional funding from governmental sources.
More information on Dr. Landa's work is featured in the story below, which was published in the April 15, 2003 edition of the Washington Post:Seeking the First Signs of Autism Researchers Hope Early Diagnosis, Intervention Can Improve Outcomes
By Suz Redfearn -- Special to The Washington Post Tuesday, April 15, 2003; Page HE01
While Winnie the Pooh and Tigger look down from the wall, a young woman sits at a low table enthusiastically attempting to engage a baby in play. She hands the child a bright orange block, then a bucket for slam-dunking it. She initiates a round of peekaboo, shielding herself behind her hands then suddenly revealing her beaming face and sing-song voice. Next come the bubbles, then a nifty plastic penguin.
It may seem like ordinary play, but it's serious business. Behind the room's two-way mirror sits Rebecca Landa, director of the Center for Autism and Related Disorders at Baltimore's Kennedy Krieger Institute and associate professor of psychiatry at the Johns Hopkins School of Medicine. From her hidden perch, Landa scrutinizes the little one's reactions, gathering data for the first study funded by the National Institutes of Health (NIH) to detect autism in children aged 14 months and younger. Currently, autism usually isn't diagnosed until around age 3, by which time some experts believe key therapeutic windows have already closed.
And so when one little blond boy of 14 months on the other side of the glass looks at the plastic penguin, takes it in his hands, smiles with delight, looks into the eyes of the researcher, then over at his mom, Landa notes that all appears to be on schedule with his development.
But when a little dark-haired guy of the same age doesn't look at the penguin or grab it, or look at anyone in the room to communicate about the penguin, red flags go up in Landa's mind.
That's because, through the course of her six-year study, she has found that many babies and toddlers with autism lack the motor-planning skills to take hold of a new object and explore -- a task that would be a cinch for a non-autistic child of that age. Landa has also found that autistic babies aren't able to communicate by expression about a topic like the penguin, or even react to a simple game of peekaboo on a consistent basis.
Unfortunately, says Landa, these are subtle signs a parent may not notice, simply thinking their child is distracted or obstinate. And a hurried pediatrician may miss the signals, too, saying that boys -- who are four times as likely to have autism as girls -- are just slower to develop.
But the earliest signs of autism should become much better known once Landa completes her work. She is soon to publish data showing that many children who will later be diagnosed with autism are showing subtle signs of the disorder as early as 6 months, an age previous researchers had believed was too early to tell. By 14 months, her work shows, a constellation of signs has emerged in most autistic children, making a definitive diagnosis possible.
"Such clear evidence of developmental disruption before babies can be formally diagnosed," Landa said, "will be tremendously helpful to doctors, therapists, teachers and parents."
Current tests for diagnosing autism can't be used for babies, as the tests measure whether a child is making friends, whether he or she has conversations in which there is reciprocation and whether he or she engages in imaginary play.Anatomy of a Disease
So far, scientists have discovered no primary cause for autism, but it is commonly attributed to abnormalities in brain structure or function. Researchers are investigating possible genetic, infectious, metabolic, immunologic and environmental links.
Autism is expressed differently in each person, but most have problems with both verbal and nonverbal communication. Many cannot hug a parent or conduct a conversation, and many will react badly to changes in routine and engage in repetitive behaviors like flapping hands. Most are unable to look others in the eye. Some with autism can learn and hold jobs, while others require lifelong institutional care.
The incidence of autism is 10 times what it was a decade ago, now striking between two and six people per 1,000, according to the Centers for Disease Control and Prevention (CDC). About 1 million Americans are autistic today.
Why the spike? The National Association for Autism Research (NAAR), a Princeton, N.J.-based parent group that funds autism research, says the numbers may be attributable to better detection and the fact that several autism-like disorders are now classified under the umbrella term "autism spectrum disorder. Nevertheless, the CDC is funding long-term surveillance studies to more closely examine its incidence.
There is no quick screening procedure for autism; specialists must spend time observing the child. And because there is no cure for any of the autism spectrum disorders, the autism community has placed much hope in early intervention. Many are excited about Landa's study.
"Her work is contributing to a lower threshold for diagnosis. It's groundbreaking," said Joe Guzzardo, spokesman for NAAR, which funded Landa's research when it was in its pilot stage.
Jon Shestack, founder of Cure Autism Now (CAN), a Los Angeles-based organization founded by parents to fund autism research on neurobiology and early diagnosis, says even though formal diagnosis doesn't take place until a child turns 3, people with a very trained eye can now spot autism at 18 months. But that's still not early enough.
"What's important about Rebecca Landa's work is that she's saying you can do it a lot earlier than that," said Shestack.
Within the year, Landa plans to establish diagnostic guidelines -- in writing and on video -- for pediatricians in the hopes that they will begin proactively screening babies rather than waiting for parents to come in voicing worries after their child has turned 3. After that age, said Landa, critical time frames for effective intervention may be quickly closing.Acting Early
Jennifer Haupt knows all about critical time frames. Haupt, a resident of Clear Spring, Md., has two autistic children, both of whom participated in Landa's research. The older, Ian, was first diagnosed just before he turned 3. Subsequent intervention such as speech and occupational therapy, as well as music, swimming and horseback riding therapy didn't help him much. At 5, Ian isn't speaking, and it has taken two years for him to learn to indicate his needs and wants by showing his mother specific pictures.
But Zach, Haupt's second son, who was diagnosed at 18 months, received immediate intervention and is now, at age 3, showing great progress. He now has a vocabulary of about 10 words and can interact well with others -- quite a feat for an autistic child of that age.
Haupt believes timing was key.
"When they're so young, they can be molded so much easier," said Haupt, who quit her job as an accountant to care for her boys full time when they were both diagnosed autistic.
Indeed, says Robert Beck, executive director of the Bethesda-based Autism Society of America, if you can get to autistic kids before they become isolated from their surroundings -- which happens early -- you often can get them to communicate. Otherwise, communication becomes extraordinarily hard.
Adds Carole Samango-Sprouse, director of neurodevelopment for the Diagnostic Center for Young Children at George Washington University, not every autistic child responds well to early intervention, but about 75 percent do.
"When you get to the brain earlier, it's that much more plastic," said Samango-Sprouse. "You don't have to eliminate bad behavior that's not there yet, but rather you can encourage good behavior. The earlier you get there, the better the outcome."
According to Landa, there are certain "sensitive periods" of a baby's life when the child becomes hyper-focused on understanding specific elements in their environment. For instance, from birth to about 12 weeks, a normally developing baby will be compelled to focus on the faces of people around her, trying to understand what faces are, what they convey. Between 6 and 12 months, babies concentrate on language and speech perception, trying to understand the subtle difference between similar sounds in an effort to get ready to speak themselves, said Landa.
Her theory is if you get to autistic kids early in these sensitive periods, you may be able to reroute confused brain signals so that these sensitive periods are not squandered. Otherwise, says Landa, bad signals from the disorganized portions of an autistic child's brain are sent to otherwise strong brain tissue, where they fall flat. The result is that the child may never come to understand what faces convey or what words mean. But, says Landa, earlier intervention can help.
"You have to go after a kid when he's doing things like processing faces and breaking the speech stream down," said Landa. "If you give them consistent input at those times, they start to get it. If you wait until they're 3, you might miss out on shaping the outcome most effectively."Digging In
Landa, a speech pathologist who has done autism research for 16 years, is wrapping up her early detection study this spring. Because up to 10 percent of families who have an autistic child give birth to another child with autism, Landa asked the parents of autistic kids to enroll new babies. She has a control group of 50 kids and another 50 in her at-risk group, constituting the largest sample group of babies to be studied for autism since birth, said Landa.
Landa and her research team start by observing newborns in maternity wards, checking to see if they prefer to stare at a picture of a solid black stripe over a simple drawing of a face. (The theory is that autistic babies will prefer the stripe).
When babies turn 3 months old, Landa or an assistant go to their homes and present them with more stripe-or-face choices, this time with the face drawings being more complex.
At 6 months the parents are asked to bring the babies in for several hours of observed play. This is repeated at 14, 18, 24 and 36 months. At 3 years old, when the children can be diagnosed with autism through traditional means, the study period ends.
Besides identifying developmental abnormalities in very young autistic babies, the early detection study has allowed Landa to show that some autistic kids will develop seemingly normally until about 14 months, at which point they regress. The National Institute of Child Health and Human Development (NICHD) reports that about 20 percent of autistic kids may develop normally then regress dramatically, but says its information on this phenomenon has been based on anecdotal reports from parents. And, says NICHD, there is little information about when this regression occurs. Landa's research is likely to change that.
With the early detection study nearly done, Landa is beginning to recruit 50 toddlers diagnosed with autism spectrum disorder for an NIH-funded early intervention study. Kids will start the study early, at 24 months, while most other autism intervention trials begin at 36 months.
The study will focus on communication and social interaction, blending multiple instruction methods like structured teaching and following the child's lead, reinforcing positive behavior as they go. The study will last five years, with researchers focusing on 10 kids per year. Landa's research team is looking for participants.
"What we're hoping to show is that if you intervene early enough, you can help [autistic children] understand that they can do things to make others understand them without having to cry," said Landa. "They can use symbols, acquire a language and learn to engage with you."
Part of the trial will involve examining the toddlers' blood. This section of the study -- done by Karin Nelson (no relation to Daniel Nelson, pictured above) and colleagues at the National Institute of Neurological Diseases and Stroke -- could lead to insights about possible pharmaceutical intervention for autism, said Landa. It also opens new possibilities for developing early diagnostic tests. The study will build on Nelson's previous findings that autism and mental retardation can be seen in certain over-expressed brain chemicals -- neuropeptides and neurotrophins.
Meantime, trials like Landa's are giving parents of autistic kids hope. Nobody's talking about a cure, but with a condition as devastating as autism, even the hint of an effective treatment is exciting.
"If they can diagnose a child at 6 or 9 months," said Haupt, "who knows what else they can do?"
More information on autism and autism research is available from:
• National Association for Autism Research, www.naar.
• Autism Society of America, www.autism-society.org, 800-3AUTISM
• Cure Autism Now, www.cureautismnow.org, 888-8AUTISM
• Organization for Autism Research, www.researchautism.org, 703-351-5031
For information on free evaluations and early intervention services, which every state is mandated to provide, call the National Information Center for Children and Youth with Disabilities at 800-695-0285.
For information about the upcoming early-intervention trial for toddlers with autism, call 877-850-3372 or e-mail Rebecca Landa at firstname.lastname@example.org.
Suz Redfearn, a regular contributor to Health, last wrote about hormone therapy.
© 2003 The Washington Post Company
Sidebar briefs that accompanied this story:Some Red Flags for Autism
According to Johns Hopkins researcher Rebecca Landa, some early infant behaviors can clue parents in to potential problems before a formal test or a pediatrician visit might.
Landa stresses that seeing any or several of these does not necessarily indicate autism, but she urges parents who detect a pattern of the behaviors below to consult a developmental specialist.
At 6 months:
• Not babbling much
• Not making eye contact with parents during interaction
• Not smiling when parents smile (parents shouldn't have to touch the baby to elicit a smile, says Landa)
• Not participating in vocal turn-taking (where the baby makes a sound, you imitate him, he then makes the sound again, and so on.)
• Not responding to peekaboo on a regular basis
By 14 months:
• No attempts to speak
• No pointing, waving or grasping
• No response when called by name; indifference to others
• Repetitive body motions like rocking and hand-flapping
• Fixations on a single object
• A strong resistance to changes in routine
• Oversensitivity to certain textures, smells or sounds
• Loss of any language skillsAutism Treatments
There is no cure for autism, and there is as yet no standard of care. But while scientists search for biological and environmental factors that may predispose a person to the disorder, a few treatments have made a difference for some children, according to the National Alliance for Autism Research.
One of the most widely used programs is Applied Behavior Analysis, which focuses on reducing specific problem behavior such as aggression and self-injury while also teaching new skills and showing children diagnosed with autism how to handle changes in their environment.
Medication is often used to deal with a specific behavior, like self-injurious tendencies or aggression. Reducing such behavior may allow the person with autism to focus on other things, like learning. Doctors have had success prescribing drugs typically used for obsessive-compulsive disorder, schizophrenia and attention-deficit hyperactivity disorder.
This kind of treatment helps children develop daily living skills, fine and gross motor development, and sensory integration.
These vary widely, but are most effective when tailored to the needs of the individual. Most are aimed at helping children overcome problem behaviors.
This can help some people with autism overcome communication and language barriers.
Eliminating certain foods from the diet can help some children. Easing the pain and discomfort of food sensitivities that many autistic kids have can free them up to focus on other things.
Classical music and Gregorian chants have been shown to encourage improvement in the way the brain processes input for some kids with an autism spectrum disorder.
© 2003 The Washington Post Company