by Rebecca Nebel
Starting in May of 2013, the American Psychiatric Association (APA) released the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). One of the major changes made in the DSM-V was the diagnostic criterion for Autism Spectrum Disorders (ASDs). In the previous edition, the DSM-IV, to receive an ASD diagnosis, individuals had to have deficits in social interaction, language delay, and restrictive/repetitive behavior with at least one of these categories of symptoms appearing before the age of 3 (cdc.gov). The ASDs were also broken up into 5 subgroups: Autistic Disorder, Asperger’s Syndrome, Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS), Rett Syndrome, and Childhood Disintegrative Disorder. Now, with the DSM-V in place, the three previous categories defining the ASDs have been reduced to two: deficits in social interaction and communication and restrictive/repetitive behaviors. Additionally, with the exception of Rett Syndrome, which will now be separate from ASD, the other 4 subgroups will no longer exist; every person will now exist under a unified Autism Spectrum Disorder diagnosis. Each diagnosis will have a specified severity ranging from Level 1 (least severe) to Level 3 (most severe).
According to the DSM-V development team, language delay was removed from the ASD diagnostic criteria because it varied across the spectrum. As a result, they have added a new disorder, Social (Pragmatic) Communication Disorder (SCD). This disorder is characterized by significant difficulty in verbal and nonverbal communication that is not attributable to another medical condition and arises early in development. In addition, an ASD diagnosis must be ruled out in order to receive a SCD diagnosis. It is thought that some people who previously fell under the PDD-NOS umbrella will be better suited with a SCD diagnosis and these individuals may only have social and communication deficits.
So what does this mean for individuals previously diagnosed with an ASD? Many feared that individuals who were diagnosed with an ASD under the DSM-IV would lose their diagnosis after the DSM-V was released. The DSM-V specifies that individuals with a “well established” ASD diagnosis under the DSM-IV should receive an ASD diagnosis under the DSM-V. Individuals only with deficits in social communication should be evaluated for SCD. What “well established” actually means is unclear and may be up to the person evaluating diagnoses to decide, but late last year, Heurta et al., used the DSM-V and identified 91% as having an ASD who were previously diagnosed with an ASD under the DSM-IV. This suggests that those who previously fell into the ASD umbrella under the DSM-IV would retain their diagnosis with the DSM-V. However, studies since then using various methods have been inconsistent with these findings (dsm5.org).
A related concern was if services provided to ASD individuals, such as those with Asperger’s or PDD-NOS, and their families would change after the release with the DSM-V. Since individuals diagnosed with an ASD under the DSM-IV are likely to retain their diagnosis under the DSM-V, services and insurance coverage should not change. In fact, according to Simons Foundation Autism Research Initiative, the consolidation of ASD categories into a single diagnosis may actually improve services for some individuals. Currently, some state agencies and school districts do not provide access to services associated with an autism diagnosis to individuals diagnosed with Asperger’s and PDD-NOS. Instead, these individuals are offered less expensive options. So, with individuals now receiving a unified diagnosis, it may be easier for individuals to receive appropriate services. On the other hand, some individuals diagnosed with an ASD under the DSM-IV may lose their ASD diagnosis and therefore will lose services they were currently being provided with. Even if these individuals are diagnosed with SCD, the services that will be provided to these individuals and how much health insurance will cover remains to be seen.
One main concern that still remains in the ASD community is the loss of identity. What happens to individuals who identified with Asperger’s Syndrome or any other ASD subgroup? While labels such as these sometimes carry stigmas with them, they can also be beneficial and provide a sense of identity to diagnosed individuals and their families. Since labels such as Asperger’s have existed for some time now, there are no doubt a number of support and advocacy groups specific to these subgroups. What will happen to these groups? Will they provide support for all ASD diagnosed individuals? Will members of these groups continue to participate despite the fact that their diagnoses may now be differing? Or will support groups dissipate or change focuses as diagnoses are changed around. More importantly, it may be difficult for individuals who lose their ASD diagnosis and gain a completely different diagnosis to cope with this loss or change of identity. In a disorder where routine is very important, it may be a challenge for higher functioning individuals who are aware of these changing environments and treatment to deal with the modifications being made.
Lastly, what do these changes mean for researchers involved in ASD studies? As individuals with an ASD are a very heterogeneous population, some researchers have taken the approach to study a specific subgroup of ASD. The idea is that individuals in the same subgroup will be more homogenous in terms of symptoms and behaviors than the ASD population as a whole, although behaviors and disease severity within groups are still quite heterogeneous. As subgroups no longer exist under the DSM-V, is research specific Asperger’s or PDD-NOS no longer relevant? And how will this affect funding? As the DSM will continue to evolve, using it as a means to group individuals may not be the best way to gain a better understanding of disease. Furthermore, although various neurocognitive disorders such as ASD, Schizophrenia, Intellectual Disability, and many others are discrete disorders, according to the DSM-V, recent genetic studies show that these disorders overlap quite a bit in terms of their biology (Guilmatre et al., 2009).
Perhaps a better way to examine these diseases would be to study individuals with defects in similar biological pathways such as synaptic transmission or mTOR signaling rather than distinct disorders or behaviors. While the etiology for many patients is still unknown, the advances in technology and decreased cost of whole genome or exome sequencing makes this idea not as far off as it might sound. This type of research would not only allow for a larger sample size in studies, which is often a limiting factor, but also outlive the ever-changing DSM criteria.
The release of the DSM-V has brought about many changes for the ASD community, its supporters, and its researchers. As it has only been a short while since the DSM-V release, how individuals, schools, insurances, and researchers handle these changes will be seen in the upcoming months.
Huerta M, Bishop SL, Duncan A, Hus V, Lord C. (2012) Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders. 169(10):1056-64.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. (2009) Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry.;66(9):947-56.
Rebecca is a fourth year PhD student in the laboratory of Dr. Brett Abrahams at Albert Einstein College of Medicine. She was born and raised in nearby Hastings-on-Hudson, NY and has always had a passion for science and learning. In addition to science, Rebecca enjoys music, baking, and traveling.