Variability of Diagnostic Symptoms of ASD in Individuals with Fragile X Syndrome

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  • February 22, 2019
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  • Griffin, Sarah
    • Affiliation: School of Medicine, Department of Allied Health Sciences, Division of Speech and Hearing Sciences
  • DeRamus, Margaret
    • Affiliation: School of Medicine, Department of Allied Health Sciences, Division of Speech and Hearing Sciences
Abstract
  • Purpose or Research Questions In 2013, the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) provided a new framework of criteria for diagnosing autism spectrum disorder (ASD), differing from the previous edition, the DSM-IV, in both structure of criteria and number of criteria needed for a diagnosis. This study aims to further understand the relationship that exists between specific ASD symptoms observed and the presence of an ASD diagnosis in this population. Background A recent analysis of this data (DeRamus et al., 2016) demonstrated that more individuals with FXS met criteria for ASD on the ADOS-2 when mapped to the diagnostic framework of DSM-IV than that of DSM-V. This current exploratory study is a sub-analysis of data obtained by the Decisional Capacity in fragile X syndrome study at the UNC-CH Carolina Institute for Developmental Disabilities and Research Triangle Institute and examines symptoms of autism through the gold-standard behavioral assessment for ASD, the ADOS-2. Methods/Proposed Methods One method for exploring the differences between diagnoses resulting from DSM-IV vs DSM-V criteria is to look at a relaxed version of DSM-V criteria, reducing the number of qualifying symptoms by one in both social communication and interaction (SCI) and repetitive and restricted behaviors and interests (RRBI) criteria. The symptoms of ASD in 143 individuals with FXS (72 male and 71 female) from the ADOS-2 were examined with regards to the criteria of SCI and RRBI. In addition, frequencies of meeting criteria for ASD based on a relaxed diagnostic criteria of the DSM-V standards were examined. Results/Anticipated Results 75% of males and 21% of females met SCI criteria under DSM-V criteria, while 87% of males and 64% of females met SCI criteria under relaxed DSM-V criteria. 59% of males and 21% of females met RRBI criteria under DSM-V; however, 89% of males and 64% of females met RRBI under relaxed DSM-V criteria. Overall, 56% of males and 16% of females met criteria for ASD under DSM-V, and 79% of males and 50% of females met criteria for ASD under relaxed DSM-V criteria. When only the SCI criterion was relaxed by one qualifying symptom, 59% of males and 19% of females met criteria for ASD. When only the RRBI criterion was relaxed by one qualifying symptom, 72% of males and 37% of females met criteria for ASD. Discussion There is a larger increase for both males (16% higher) and females (21% higher) meeting criteria when the RRBI criterion is relaxed by one qualifying symptom as compared to when the SCI criterion is relaxed by one qualifying symptom (3% higher for male and females). Further analysis will be done to determine the significance of these differences and to look into the sub-criteria within the SCI and RRBI domains. Examination of the ASD symptomatic profile of individuals with FXS is important to the understanding of diagnostic trends and the focus of further treatment due to funding constraints on services covered by insurance.
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  • University of North Carolina at Chapel Hill. Department of Allied Health Sciences. Division of Speech and Hearing Sciences. Student Research Day (9th: 2017: Chapel Hill, NC)
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  • May 5, 2017

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