Date Presented 04/04/19
Fragile X syndrome (FXS) is the most common inherited form of intellectual and developmental disability and the most common single gene cause of autism spectrum disorder (ASD). FXS has been widely researched, primarily via a medical model. Yet, the FXS literature lacks occupation-based outcome measures capturing improvements in everyday life. This research examined individual cases as part of a clinical trial and compared standardized testing results to occupation-based family interviews.
Additional Authors and Speakers: Laura Hess
Primary Author and Speaker: Tracy Ye
Additional Authors and Speakers: Decerie Mendoza, Martina Dualan, Elena Javier
PURPOSE: Fragile X syndrome (FXS) is the most common inherited form of intellectual and developmental disability (IDD) and the most common single gene causing of autism spectrum disorder (ASD) (Hess et al., 2016). FXS is a genetic condition causing intellectual disability, behavioral and learning challenges, and various physical characteristics (NFXF, 2017). Behavioral phenotype includes anxiety, hyperactivity, impulsivity, and sensory processing deficits (Wheeler et al., 2017). Children with FXS have functional limitations that interfere with occupational performance in their daily life activities and OT sare often members of the interdisciplinary team providing child / family centered services. Current research on children with FXS lacks inclusion of qualitative outcomes on the child’s daily occupational performance as standardized testing is primarily used. Standardized measurements can be less sensitive to change (Berry Kravis et al., 2013) and miss capturing family perspectives and improvements to meaningful occupations. Therefore the research question guiding this study was: How can semi-structured interviews reveal occupational performance changes in response to medication in a more contextually valid and sensitive manner when compared to traditional standardized outcome measures?
DESIGN: This study was a phenomenological, qualitative research design, in which caregivers of the child with FXS (2-6 years old) consented to a prior study from the UCDavis MIND Institute to determine the effects of sertraline - trade name Zoloft, a selective serotonin reuptake inhibitor (SSRI). Caregivers were interviewed using semi-structured interview protocol at baseline and at six months post-treatment to discuss their child, occupations, and any impacts of sertraline. Interviews were audio recorded and transcribed verbatim. This study examined a select group of boys who were given sertraline via in depth case study analysis. Baseline and post testing standardized results were compared to the occupation centered semi-structured interviews.
METHODS: The data was collected from a pre-existing database in a previous study determining the outcome measures of sertraline. Grounded theory is a systematic method of qualitative research that often incorporates the constant comparative method of data analysis and consists of categories, properties, and hypothesis (Strauss and Corbin, 1990). The constant comparison method was used to code for emerging data (Strauss and Corbin, 1990). Codes were informed by the FXS literature and the PEO theoretical framework; however specific codes were emergent from the data itself including themes of communication, play, self-care, sensory processing and the impact on family life. Dedoose software was used to code for categories and themes found in the FXS family interviews.
RESULTS: Research results revealed limited improvements as captured by standardized assessment scores in comparison to the occupation based semi-structured interviews, thus indicating that the interviews described more occupation based improvements than standardized assessments alone.
CONCLUSION/IMPLICATIONS FOR PRACTICE: Practice implications challenge OTs to consider how to best contextualize standardized assessment results within an occupation based framework. Our goal is to include a qualitative measure and gain families’ perspectives about daily lived experiences to further address occupations in context rather than being limited to specific performance skills measured in traditional assessments which are not as sensitive to change for FXS. Research implications include how occupation based interviews can become part of clinical trials to capture more nuanced changes in everyday life in contrast to standardized assessments alone.
References
Hess, L. G., Fitzpatrick, S. E., Nguyen, D. V., Chen, Y., Gaul, K. N., Schneider, Chitwood, K.L., Eldeeb, M.A., Polussa, J., Hessl, D., Rivera, S., & Hagerman, R.J. (2016). A randomized, double-blind, placebo-controlled trial of low-dose sertraline in young children with fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 2016.
Berry-Kravis, E., Hessl, D., Abbeduto, L., Reiss, A. L., Beckel-Mitchener, A., Urv, T. K., & Outcome Measures Working Groups. (2013). Outcome Measures for Clinical Trials in Fragile X Syndrome. Journal of Developmental and Behavioral Pediatrics : JDBP, 34(7), 508–522. http://doi.org/10.1097/DBP.0b013e31829d1f20
Wheeler, A. C., Mussey, J., Villagomez, A., Bishop, E., Raspa, M., Edwards, A., & ... Bailey, D. J. (2015). DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in fragile X syndrome. Journal Of Autism And Developmental Disorders, 45(3), 816-829. doi:10.1007/s10803-014-2246-z
National Fragile X Foundation (2017). Learn. Retrieval from https://fragilex.org/learn/
