April is National Autism Awareness Month. Autism or Autism Spectrum Disorder (ASD) is a complex neurological and developmental disorder marked by challenges with social interaction and communication that begin in early childhood. Although relatively rare, ASD is sufficiently prevalent (1 in 68) that most people know of someone, or the children of someone, affected by ASD. I have two nephews diagnosed with ASD, which provides a personal perspective for the importance of advancing research and clinical services for the children and families dealing with ASD.
To advance and accelerate this research, in 2017 the NIH awarded nearly $100 million to the Autism Centers of Excellence (ACE) program. This program supports nine large research projects aimed at understanding and developing interventions for ASD. These projects address a range of research areas including brain development, early detection, and psychosocial interventions that support families of ASD children.
Because of more concerted research efforts in larger samples, the risks of ASD are better known. In a substantial proportion of cases, noninherited genetic mutations (PDF 998KB) crucial to embryonic brain development are associated with ASD. These mutations and their expression are influenced by environmental risks such as deficiencies in folic acid and toxic environmental exposures to sperm and egg, the likelihood of which increases as parents age. Children with siblings diagnosed with ASD are more likely to be diagnosed with ASD as well.
Early detection and intervention are critical to the treatment of ASD. Early detection is facilitated by parents and pediatricians understanding that social communication behaviors occur much earlier than when children speak their first words. Two of the ACE researchers, Drs. Klin and Wetherby, are identifying many early milestones of nonverbal communication behaviors that can be used for early detection of ASD. Promising research using advanced imaging tools is showing that ASD may be predicted from the functional connectivity of the brain as early as age six months.
Early intervention for ASD involves an intensive treatment approach based on developmental and learning principles. These interventions are commonly referred to as applied behavior analysis (ABA), but ABA (PDF 1 MB) refers to a general approach to changing behavior by applying learning principles in a systematic and experimental manner, not a specific treatment for ASD. ABA is a core component of the two intervention models for autism, the UCLA -Lovaas model (PDF 409 KB) and the Early Start Denver model, but these models also include other components such as relationship-based strategies. These interventions are highly individualized and differ with each child’s challenges and with the unique antecedents and consequences that influence their behavior.
A recent review and consensus report in Pediatrics of these early interventions for ASD by the Autism Forum determined that these early interventions significantly improved outcomes in ASD. Research recommendations from this report included evaluating the relative contribution of the active components, understanding the heterogeneity and predictors of treatment response, and obtaining greater consensus for core outcome measures. Among the practice recommendations, the consensus report noted that:
- Evidence of effectiveness is strongest in ASD children younger than age 3, emphasizing the importance of early detection and intervention
- A broad range of potential intervention targets should be considered, including not only cognitive and language skills, but also social communication and function
- Comorbid medical conditions and physical limitations need to be considered, and treatment of these other medical conditions needs to be integrated with the ASD intervention
- Interventions should involve families, including them in all aspects of the intervention
- Interventions need to be adapted to the family’s resources and sociocultural beliefs
These last two recommendations are an important reminder that ASD greatly affects not only the child with ASD but also their family. Parents must deal with unusual and unpredictable behaviors of their ASD child, not only at home but also in public places that often are not supportive of a child with special needs. Parents also need to be advocates for their child in schools and medical systems that, despite improvements, are still inadequately prepared to address comprehensively the needs of the ASD child. Being a parent of an ASD child can be a full-time job with limited opportunities for respite. In more severe cases, parents may need to address that their child never may be able to function independently as an adult. These are serious but manageable challenges for families with resources, but it can be overwhelming for families with limited resources.
Many research efforts continue to address the needs of ASD children and their families, and we need to continue to advance research that will further our understanding of the causes of ASD and improving our interventions for this disorder, but we also need to advance implementation science research that facilitates the adoption of approaches we already know are effective to ensure all ASD families, regardless of resources, have the interventions and support they need.