Parents could be trained on how to help a child focus on desired tasks, or how to take turns when interacting with others. CREDIT Nate Edwards

Training and empowering parents to offer at-home interventions to children with autism spectrum disorder helps children improve in positive behaviors and language communication skills says a new study from BYU.

“We’ve known for a long time that early interventions for children with autism improve learning and social skills at a greater rate than if interventions are offered later,” said Timothy B. Smith, BYU counseling psychology professor. “The problem lies in the bottleneck between the small number of practitioners available and the large numbers of children with symptoms who aren’t receiving treatment. Many can spend months on a waitlist before meeting a clinician.”

Utilizing at-home interventions in conjunction with professional clinical treatment is one way to expand treatment services. The study, recently published in the Journal of Autism and Developmental Disorders, found that when parents were educated in ways to offer interventions at home, children saw marked improvement in social skills as well as language and communication skills when compared to children receiving no specialized home interventions.

Parents could be taught strategies that they can use to help their child develop social, communication, and play skills. For instance, they would be trained on how to help a child focus on desired tasks, or how to take turns when interacting with others. Parents would be empowered to implement these tactics throughout the course of the day.

“There is no scientific justification to not train parents,” said Smith. “A parent can constantly reinforce social behaviors if they know what to look for and how to do it. It’s about meeting the kids where they’re at. It has a potentially remarkable impact on child outcomes.”

The researchers conducted a meta-analysis of over 50 different studies to understand the impact of parent-led interventions. In total, the studies included 2,895 child participants with an average age of five and a half. On average, parents received about 90 minutes of intervention training each week. Impact on child development was measured using direct observation by a professional as well as parent and observer ratings. No differences were observed when the mother, father, or both implemented interventions.

Moderate gains in development while they’re young crescendo over time, said Smith. Children with autism spectrum disorder who benefit from home interventions will enter preschool more prepared and they’ll leave preschool feeling more equipped for kindergarten.

“They’ll get more out of first grade and then second grade, and the effect continues to multiply,” he said. “That trajectory then continues to widen the path where the child will end up across their lifetime.”

When considered with lifelong costs associated with education, social programs and eventually welfare programs that take care of adults with disabilities, Smith estimates that parent-led interventions are a procedure that could save billions of dollars.

Researchers say they’re hopeful that such findings can be used by lawmakers to introduce legislation to add parent training as a covered benefit of insurance policies, like recent changes in federal legislation that offered insurance coverage of professional treatment for children with developmental delays.

“Kids diagnosed with ASD are higher functioning today than even twenty years ago because they’re getting interventions when they’re one or two years old,” said Dr. Tina Taylor, associate dean in the David O. McKay School of Education, and co-author of the study. “We need continued resources to help equip parents help their children. Parents are able and willing to help their children build the skills they need to be successful and make huge contributions to the world.”

Additionally, when pediatricians find symptoms of developmental delays in well child visits, they could immediately make the recommendation for parent training programs, while simultaneously making referrals for professional services.

“Intensive interventions can require 25 hours or more per week, and it’s unrealistic to expect that solely from a professional provider. Parents can have the knowledge and skills to help their children develop,” said Linda Cheng, lead author of the paper and current doctoral student studying educational inquiry, measurement and evaluation in the McKay School. “If we only stay with the traditional methods of treatments, we’re missing an opportunity to help those in need.”

For parents interested in learning more about strategies of parent led interventions, Smith suggests exploring the online resources offered by Project-Impact.

Dr. Alexander Kolevzon, Clinical Director of the Seaver Autism Center for Research and Treatment at Mount Sinai with trial participant. CREDIT Mount Sinai Health System

Results of a small, but unique research study, led by researchers from the Seaver Autism Center for Research and Treatment at Mount Sinai and published online in Human Genetics and Genomic Advances, suggest that low-dose ketamine is generally safe, well-tolerated and effective to treat clinical symptoms in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

The ADNP gene affects brain formation, development, and function, and the protein produced from it helps control the expression of other genes. ADNP mutations are one of the most common single-gene causes of autism. Ketamine was approved in the United States in 1970 and is used for anesthesia and pain management, and more recently as a treatment for depression. Studies in animal models suggest that low-dose ketamine may be neuroprotective and increase expression of the ADNP gene.

“We were intrigued by the preclinical evidence suggesting that low-dose ketamine may increase levels of the  ADNP protein and compensate for its loss in ADNP syndrome, so we designed this study to evaluate the safety, tolerability, and behavioral outcomes of low-dose ketamine in children with the syndrome,” says Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center. “We also sought to explore the feasibility of using electrophysiological biomarkers and computerized eye-tracking to assess sensitivity to treatment.”

In order to evaluate the effect of ketamine, the Mount Sinai research team used a single-dose (0.5mg/kg), open-label design, with ketamine infused intravenously over 40 minutes. Ten children with ADNP syndrome, ages six to 12 years, were enrolled. They found ketamine was generally well-tolerated, and there were no serious adverse events. The most common adverse events were elation/silliness (50 percent), fatigue (40 percent), and increased aggression (40 percent). Using parent-report instruments to assess treatment effects, ketamine was associated with improvements in a wide array of domains, including social behavior, attention deficit and hyperactivity, restricted and repetitive behaviors, and sensory sensitivities, a week after administration.

Results from the clinician-rated assessments indicated improvement based on the Clinical Global Impression-Improvement scale, a seven-point scale commonly used by clinicians to assess how much a patient’s illness has improved or worsened relative to a baseline state at the beginning of an intervention. Importantly, results across clinician-rated and caregiver-rated assessments were largely consistent. The results also highlight the potential of assessing early changes in social attention with computerized eye-tracking and the electrophysiological measurement of a listening task known as auditory steady-state response.

“We are encouraged by these findings, which provide preliminary support for ketamine to help reduce negative effects of this devastating syndrome,” Dr. Kolevzon says. “Future studies using a placebo-controlled design and studying the effects of repeated dosing over a longer duration of time and in a larger cohort of participants are needed before ketamine is used clinically, but our study is a promising first step in that process.”

Ongoing studies are using RNA sequencing to measure change in ADNP expression and other genes, as well as DNA methylation analysis, which has been previously described as relevant in ADNP syndrome. DNA methylation regulates and silences the expression of genes and is vital for embryonic development. Increased occurrence of rare and extreme DNA methylation levels have been linked with neurodevelopmental disorders and congenital anomalies.