Assessment of Social Interaction in FXS

Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome.

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ABSTRACT

An efficient and direct measure of social interactions and autism symptoms is needed for fragile X syndrome (FXS) research and clinical care. The Autism Screening Instrument for Educational Planning-Third Edition (ASIEP-3) Interaction assessment is a brief standardized measure that quantifies social responses under different conditions. The feasibility and validity of the ASIEP-3 was evaluated in 26 males and 13 females with FXS, along with cognitive testing and behavior questionnaires. The videos were scored at 10-second intervals, and the observed behaviors were scored as an interaction, independent play, no response, or aggression. In total, 39/41 participants successfully completed the ASIEP-3 (age M = 14.4 ± 10.2), with a range of cognitive abilities (abbreviated IQ (ABIQ) M = 58.9 ± 17.3, median = 50), behaviors (Aberrant Behavior Checklist (ABC) Total M = 37.00 ± 27.3), and autism diagnoses (N = 22/39). Reliable administration was demonstrated by all team members. The mean coded behaviors included interaction (40.6%), independent play (36.8%), no response (21.1%), and aggressive behavior (<10%). The interaction score was negatively correlated with the Social Communication Questionnaire (SCQ) score (p = 0.037), and the profiles differed by autism spectrum disorder (ASD) diagnosis. The intraclass correlation coefficients (ICCs) ranged from 0.79 to 0.93 for master’s level and above. Administration of the ASIEP-3 was feasible for FXS across sex, age, ability, and behavior ratings by a trained research team. Reliable scoring required advanced training in the assessment of social development and FXS experience. The scores correlated to ratings and diagnoses of ASD. The ASIEP-3 shows promise to reliably index social interactions in FXS.

Cordeiro, L.; Braden, M.; Coan, E.; Welnick, N.; Tanda, T.; Tartaglia, N. Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome. Brain Sci. 202010, 248.

Repetitive Behaviors in FXS

Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome.

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ABSTRACT

Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.

Reisinger, D.L.; Shaffer, R.C.; Tartaglia, N.; Berry-Kravis, E.; Erickson, C.A. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sci. 202010, 239.

ASD Diagnosis in FXS

Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.

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This paper published in the Journal of Autism and Developmental Disorders addresses the difficulty of diagnosing ASD in FXS. Although individuals with FXS are commonly diagnosed with ASD, it is a challenging diagnosis because intellectual disability and co-occurring mental health conditions can be interpreted as autistic features. Two commonly used standard measures, the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS), were examined as potential tools for improving ASD diagnosis and characterization in FXS. Researchers scientifically analyzed the SCQ and SRS and compared it to the standard DSM5 method used across clinicians to diagnose ASD in FXS. To improve diagnostic accuracy of ASD, various methodological revisions were applied to the SCQ and SRS in order to improve sensitivity and specificity of the measures.

Although the revised SCQ and SRS have an improved sensitivity/specificity balance and may be better suited for identifying ASD in males with lower cognitive function and irritability/aggression, the diagnostic accuracy of these measures is still below optimal levels, reflecting to some extent the inherent difficulty of diagnosing ASD in intellectual disability. This research suggests there are differences between the diagnosis of FXS and FXS+ASD. More work needs to be done to examine additional modifications, beyond deletion of non-informative items, that can further improve the diagnostic potential of the SCQ and SRS in FXS.

Kidd SA, et al. (2019). Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2019, 1-20. doi: 10.1007/s10803-019-04148-0

Autism in FXS

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

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Many individuals with fragile X syndrome (FXS) also have a diagnosis of autism spectrum disorder. This new article takes a closer look at the effects of this dual diagnosis. Previously, the only information available to clinicians and researchers about autism among people with FXS was from small family studies and surveys. Thanks to FORWARD data, this paper presents new findings on co-occurring medical and behavioral conditions from a large number of people who have both FXS and autism.

This research suggests that half of males and almost 20% of females with FXS met the clinical criteria for a diagnosis of autism. This research also found that people with both FXS and autism were more likely than those with FXS alone to have seizures, sleep problems and aggressive behavior. In addition, individuals with autism and FXS had significantly higher use of medications to treat aggression (alpha-agonists and antipsychotics) than individuals with FXS alone. The paper reports that behavioral health services appear to be used less often in individuals with FXS and autism compared to individuals diagnosed with autism alone.

Tables 1 & 2: Seizures and Sleep Problems Associated With FXS+ASD and FXS Only, by Age Groups and All Ages, in Subjects Enrolled From September 7, 2012 through August 31, 2014, FORWARD Database.

Kaufmann WE, et al. Autism spectrum disorder in fragile X syndrome: characterization using FORWARD. Pediatrics 2017;139 (Suppl 3):S194-S206.