Autism Spectrum Disorders: What is this "spectrum", and why are so many affected?
This week, the American Academy of Pediatrics published updated guidelines for the identification, diagnosis and treatment of individuals on the autism spectrum. In case you missed it, here is a link to the full publication:
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/language as well as restricted repetitive behaviors (RRB). While always discussed as a "spectrum," ASD is now the umbrella term that encompasses many previously unique or stand-alone diagnoses including: Autistic Disorder, Asperger's Disorder, Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder and Rett Disorder. While there are many opinions about the combination of these disorders, the core symptoms and diagnostic features remain largely the same.
So, let's briefly review those behaviors that are identified in each domain. Social communication deficits come in many forms. Clasically, it is described as having difficulty with the back-and-forth, or reciprocal nature of social discourse. For example, an individual may only want to talk about their own interests, or may not ask questions of the other person. Their comments may reflect thoughts in their own head, rather than be reflective or appropriate to the conversation at hand. It may be that a child has difficulty understanding sarcasm, or takes comments literally that are meant figuratively (e.g., "Don't count your chickens before they hatch" may be challenging to understand). There are cases where an individual does not understand when to stop talking about an area of interest, while other cases where the individual is not able to initiate conversation or to join in with others. There may be difficulties with the use and understanding of gestures, nonverbal language (e.g., body language, facial expressions), and appropriateness of eye contact. Again thinking of this as a spectrum, some individuals have difficulty making and sustaining eye contact in conversations. Others may "lock eyes" onto the individual they are speaking with and may not realize when to glance briefly away. Similarly, there may be difficulties or uncertainties when engaging with peers. While some individuals with ASD may be perfectly content to play alone and do not feel compelled to seek out same-aged peers, others desperately want that form of engagement but are unsure or unskilled at securing those friendships. There are many other examples of social communication deficits, but these few examples demonstrate the vastness of the ASD spectrum.
Restricted and Repetitive Behaviors are the second component of the diagnostic criteria. These may manifest as intense interest in a particular topic, repetitive actions (e.g., flicking a doll's eyelashes, hand flapping/body rocking, lining up of toys or other objects repeatedly), insistence on sameness in the placement of objects or in the following of a daily routine, or repetitive repetition of phrases or quotes. Often these individuals have a difficult time with unexpected change, or have an intense response to a loud or sudden noise (e.g., fire alarms, car horns, large crowds). Savant skills are also captured under this domain, as often individuals on the autism spectrum are known to have incredible talents in art, math calculation (have you ever seen Dustin Hoffman in "Rainman"?) or knowledge of historical facts- among many other examples. Atypical sensory responses are also discussed under RRB . Specifically, some individuals may show reduced sensitivity to pain or may have a particularly unique response to changes in light patterns or sound. They may fixate on these interests, or may excessively touch or smell or gaze upon a particular object. Again illustrating the vastness of the spectrum, some responses are considered hypoactive (not strongly affected), while others are hyperactive (intensely responsive).
Hopefully by now, the image of the "spectrum" makes more sense. Nonetheless, with the great advancements of research into identification, diagnosis and treatment, there are many wonderful, evidence-based supports for children with ASD, their siblings and families. Before delving deeper into the supports available and the typical diagnostic process, it is important to note that many individuals with ASD are deeply (and rightfully!) proud of their diagnosis. This is particularly common in those individuals previously diagnosed with Asperger's Disorder, or those on the higher-functioning end of the spectrum. A diagnosis of ASD does not stifle or hinder them, but rather allows them to celebrate their uniqueness and gives them a space in which to feel special. While the initial diagnosis can be a shock to some families, others express a deep sense of relief that they have gained valuable insight into their family member. This knowledge is empowering, and allows families to see appropriate treatments or supports for their loved ones.
Step one is the diagnostic process. Please check out Dr. Ghilain's blog from last week discussing the importance of early intervention and the tremendous outcomes that follow when individuals are properly diagnosed and subsequently provided appropriate supports early in life. To evaluate for ASD, neuropsychologists will complete a comprehensive evaluation looking at cognitive, behavioral, social and emotional functioning. It will involve interviews with parents or family members, and multiple assessments. While this may initially sound daunting, families are comforted by the amount of time we spend with them and their child, and are appreciative of the opportunity to share concerns and receive feedback. It is also not uncommon for individuals with ASD to have co-occuring diagnoses, such as Attention-Deficit/Hyperactivity Disorder (ADHD), mood difficulties (e.g., depression, anxiety) or other neurological conditions (e.g., epilepsy). Each of these components needs careful evaluation, and families need a plan for how to intervene going forward.
Once diagnosed, many evidence-based therapeutic interventions are available. "Evidence-based" is important, as this means that there is research to support not only its use with individuals on spectrum, but proof that the therapy works in the way that it claims. Unfortunately, there are many programs, classes, and interventions that tout huge impacts, with little evidence to support their claims. This can be frustrating when we hear parents share that they spent thousands of dollars on a therapy program that provided little to no benefit to their child. Our recommendations are well-established and scientifically supported. Broadly, some of the most common interventions for individuals with ASD include Applied Behavioral Analysis (ABA) therapies, or social skills groups such as the UCLA Peers Program. Just as every individual on the spectrum is unique, we tailor interventions to the child based on their personal needs.
We also acknowledge that an ASD diagnosis has differential impacts on each member of the family. Siblings, parents and others may benefit from support to adjust to this new diagnostic label, interact with their child in meaningful ways, or prepare for the future. Recommendations for all family members are provided during our evaluation.
So why does it seem like the rates of diagnosis are increasing so dramatically? In short, there is a better understanding of the behavioral characteristics of ASD. Therefore, parents, educators and physicians are able to diagnose and intervene at the earliest stage possible. There is also a reduced stigma associated with the diagnosis, and many interventions available. While we have a long way to go with destigmatizing diagnoses, it appears more individuals are seeking the diagnosis for their child when the smallest concern arises. Encouragingly, there is evidence to support that some individuals "grow out of" or stop meeting diagnostic criteria for ASD as they mature. This is often associated with higher intellectual functioning, milder symptom presentations, and more intensive interventions at younger ages. While this is not the case for all children, it again is reflective of the vastness of the ASD spectrum.
If you have questions about the information contained in this blog, or concerns about a child or loved one, please reach out to our office at 973-267-5646.