We are excited to share journal publications like this one resulting from FORWARD data. There are many more papers currently in development, and the future for Fragile X syndrome research is bright as more data is gathered.
Autism spectrum disorder (ASD) is a behaviorally defined complex neurodevelopmental disorder. The diagnosis of ASD is based on observations and assessments of behavior using Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) (1) or International Classification of Diseases, 11th Edition (ICD-11) criteria (2). Though the DSM and ICD are quite useful in determining whether a given individual’s behavior is consistent with a given diagnosis, it does not speak to the etiology or impact of co-occurring conditions on the behavioral phenotype or presentation. Genetic syndromes, defined mutations, and de novo copy number variations are reported to account for almost 10% to 20% of cases within ASD (3). While the revisions to the diagnostic criteria introduced a few years ago into DSM-5 (1) updated ASD from the conceptual and practical perspectives, some persistent confusion regarding terminology and the diagnosis of the condition in individuals with intellectual disability remains. The simplified diagnosis of ASD, which merged previous diagnoses into a single disorder, has led to its use in plural (autism spectrum disorders) for different purposes.
1. APA. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, D.C.: American Psychiatric Publishing (2013).
2. WHO. International statistical classification of diseases and related health problems (11th Revision). Geneva: World Health Organization (2018).
3. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 9(5):341–55. doi: 10.1038/nrg2346
Oberman LM and Kaufmann WE (2020) Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice. Front. Psychiatry 11:484. doi: 10.3389/fpsyt.2020.00484