Research Paper: Fragile X Syndrome

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[. . .] The positive behavioral changes were modest, but encouraging. Nonetheless, there is much more research for occupational therapists to do. For example, the long-term effects of the use of the stories have not been investigated and it is not certain at ages or developmental levels these stories have the largest and least benefits.

One of the important considerations when judging the effectiveness of a certain intervention is that of choosing empirically supported treatments/methods. This verification for a certain type or method of intervention most often refers to evidence from randomized controlled trials (Polatajko & Cantin, 2010). However, such group designs comparing treatments against each other or comparing treatments to control groups are not always practical or ethical to implement in real world clinical situations (Kazdin, 2011). One alternative to randomized group designs is research-based single-case studies that allow for the determination of clinically significant changes taking place in individuals and the inference of causal relationships between the intervention and the change in the case. Kottorp, Hallgren, Bernspang, and Fisher (2003) reported the results three single case studies of three mentally retarded women who were given occupational therapy interventions to assist them in learning and remembering skills that would assist them in more independent functioning of their ADLs. The participants were evaluated with the Assessment of Motor and Process Skills (to get a measure of functional ability) and the Assessment of Awareness of Disability (to determine how the client's perception of their reasons for their disability). These measures were administered to get a measure of their baseline functioning and again at completion of the intervention. The occupational therapy intervention program was based on a client-centered, top-down approach where the interventions were grounded in personally relevant and meaningful life situations and occupations. The researchers followed the process as defined in the Occupational Therapy Intervention Process Model. The participants were asked what tasks they wished to improve, given the screen measures. After selecting appropriate intervention models the therapists implemented these interventions with the participant in the prioritized tasks. The interventions consisted of adaptive interventions in order to compensate for ineffective performances (e.g., modifications of task or the environment, provision of adapted equipment, and learning compensatory techniques) and restorative interventions (video feedback with verbal feedback from the therapist and teaching and practicing more efficient routines) designed to develop more effective ADL tasks. The results indicated that the therapy intervention program resulted in positive effects on ADL process ability for the participants but less modest effects on ADL motor ability and awareness of disability. Moreover, differences in the outcome variables over all three participants was observed, which reflected the different baseline levels of functioning of the three as well as their ability to benefit from the learning program. The results indicated that personalized, client-centered occupational therapy routines are effective in helping mentally retarded clients learn new skills; however, the researchers did not measure the generalizability of the training. It would have been interesting to determine if the learning skills acquired in one domain generalized to skills and learning not specific to the variables in the study. Nonetheless, the findings of Kottorp et al. indicate that similar types of personalized interventions should be applicable to other groups with mental retardation such as Fragile X patients.

Occupational therapists who utilize the sensory integrative approach to work with children with developmental disabilities follow principles based on sensory integration theory that are designed to direct the therapists' reasoning abilities in a manner to personalize therapy for the client (Schaaf & Miller, 2005). Sensory integration refers to how people use the information provided by all the senses. The prevalent view is to think of the senses as separate channels of information, but all the senses work together in order to provide the person with their understanding of the world. Likewise, all of the senses are used in learning. The senses integrate to form a complete understanding of the self and the world in relation to the self. For children with mental retardation, learning often occurs via one sense at a time, they have trouble integrating information. The principles of sensory integration therapy have been shown to be effective in helping these children learn. These principles are defined to include such concepts as active sensory -- motor experiences, the just right challenge, the adaptive response, active participation, and child-direction (Scaaf & Miller, 2005). Sensory integration is an empirically supported approach to working with children with mental retardation and could easily be applied as in intervention with Fragile X clients to improve learning and memory.

With respect to the previous methods it should be understood that occupational therapists that use these types of interventions with children, even mentally retarded children, also set up environmental conditions that both motivate and at the same time challenge the child and also reinforce the child's engagement in activities. Hwang and Hughes (2000) reviewed the literature and found positive learning effects and improved social interactions when: (1) therapists organize environmental conditions in such a way that the child's interests are stimulated and therefore prompt them to engage in positive social interactions; (2) therapists set up a problem that the child would need to resolve such as placing a favorite toy out of the child's reach; (3) showed patience and wait for the child to respond even if the response was delayed somewhat; (4) imitated or modeled the child's response or reply; and (5) offered positive reinforcement and shaping for correct responses. These types of strategies are commonly used in occupational therapy. These types of strategies can be a part of any occupational therapy treatment program for Fragile X children by creating activities that encourage learning problem solving and remembering, supporting the child as they work through a problem, imitating children to give them a different perspective on the problem, and being patient waiting for the response even if it takes time. These types of techniques differ from the common types of behavioral techniques in which the therapists give instructions and then offer rewards or reinforcements for following them because the occupational therapist can establish a natural play-type scenario where the child begins the interaction and the occupational therapist then follows the child's actions (Field, Field, Sanders, & Nadel, 2001).


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Fragile X Syndrome.  (2012, March 31).  Retrieved March 19, 2019, from

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"Fragile X Syndrome."  31 March 2012.  Web.  19 March 2019. <>.

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"Fragile X Syndrome."  March 31, 2012.  Accessed March 19, 2019.