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 Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice
Introduction
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
About the FORWARD-MARCH Registry & Database
Since 2012, the CDC has funded four FORWARD Fragile X studies to expand understanding of Fragile X syndrome. The NFXF has been coordinating study efforts since the beginning and has been vital in ensuring its success.
FORWARD-MARCH is the next step and will collect more detailed information from participants to better understand FXS and improve the lives of children and adolescents with FXS and the lives of their families.
Below are more journal publications resulting from FORWARD data.
more from forward
Mosaicism in Males with Fragile X Syndrome
FORWARD // Participants with methylation mosaicism tended to have less severe intellectual disability and better social and functional skills. Knowing more about how FXS differs in people with and without methylation mosaicism may eventually help guide expectations and treatment of individuals with FXS.
Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome
FORWARD // This study contributes to the limited understanding of psychopharmacologic management of IAAS in FXS and will help guide future treatment.
Featured image by Hatice EROL↗ from Pixabay↗