Developmental Trajectories and Correlates of Sensory Processing in Young Boys with Fragile X Syndrome

Division of Occupational Science, Department of Allied Health Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Physical & Occupational Therapy in Pediatrics (Impact Factor: 1.46). 02/2008; 28(1):79-98. DOI: 10.1300/J006v28n01_06
Source: PubMed


No longitudinal study on sensory processing in children with fragile X syndrome (FXS) exists. This study examined developmental trajectories and correlates of sensory processing from infancy through preschool years in 13 boys with FXS.
Participants were assessed using observational and parent-report measures 2-6 times between 9 and 54 months of age.
Over time, an increasing proportion of boys displayed sensory processing that differed significantly from test norms. Observational measures were more sensitive than parent-reports early in infancy. Age and developmental quotient significantly predicted levels of hyporesponsiveness; there was a trend for hyperresponsiveness to increase with age. Baseline physiological and biological measures were not predictive.
Sensory processing problems are observable early and grow increasingly problematic from infancy through the preschool ages. Early identification and intervention may attenuate long-term difficulties for children with FXS.

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    • "Maladaptive sensory responses and impaired sensory integration are characteristic of FXS patients and model animals [6]–[9]. Studies of the Fmr1 KO mouse indicate that the null mutation has different effects on development in visual and somatosensory systems. "
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    ABSTRACT: Fragile X syndrome is a developmental disorder that affects sensory systems. A null mutation of the Fragile X Mental Retardation protein 1 (Fmr1) gene in mice has varied effects on developmental plasticity in different sensory systems, including normal barrel cortical plasticity, altered ocular dominance plasticity and grossly impaired auditory frequency map plasticity. The mutation also has different effects on long-term synaptic plasticity in somatosensory and visual cortical neurons, providing insights on how it may differentially affect the sensory systems. Here we present evidence that long-term potentiation (LTP) is impaired in the developing auditory cortex of the Fmr1 knockout (KO) mice. This impairment of synaptic plasticity is consistent with impaired frequency map plasticity in the Fmr1 KO mouse. Together, these results suggest a potential role of LTP in sensory map plasticity during early sensory development.
    Full-text · Article · Aug 2014 · PLoS ONE
    • "Retrospective video analysis is another method that has been used to investigate pre-diagnostic socio-communicative and speech-language development in neurodevelopmental disorders, which are recognized during the toddler period or even later. Most such studies have focused on individuals with ASD (Baranek, 1999; Colgan et al., 2006; Ozonoff et al., 2011; Poon, Watson, Baranek, & Poe, 2012; Thorsen, Goldberg, Osann, & Spence, 2008; Watson, Crais, Baranek, Dykstra, & Wilson, 2013) and Rett syndrome (RTT; Bartl-Pokorny et al., 2013; Einspieler et al., 2013; Marschik, Kaufmann, et al., 2012; Marschik, Pini, et al., 2012; Marschik, Sigafoos, et al., 2012; Marschik, Bartl-Pokorny, et al., 2013; Marschik, Kaufmann, et al., 2013). Although retrospective video analysis has proven to be a valuable tool to delineate early atypical behavioral patterns in ASD and RTT, to the best of our knowledge only one study used this approach in FXS during the first year of life (Baranek et al., 2005). "
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    ABSTRACT: We investigated the early socio-communicative development of individuals with fragile X syndrome (FXS) by undertaking a retrospective analysis of family videos. Videos were analyzed to identify existing communicative forms and functions. Analyses were undertaken on seven children who were later diagnosed with FXS. The children were filmed when they were 9-12 months old and before being diagnosed. Fourteen different communicative forms and six different communicative functions were observed. All participants were observed to express the functions of 'Attention to self' and 'Answering', but none indicated 'Requesting action', 'Requesting information', 'Choice making', or 'Imitating'. Results suggest that children with FXS may have a limited range of communicative forms and functions when they are from 9 to 12 months of age. However, further research is necessary to gain a specific developmental profile of socio-communicative forms and functions in FXS.
    No preview · Article · Jan 2014 · Research in developmental disabilities
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    • "There is co-morbidity with attention deficit hyperactivity disorder (ADHD), autism and other psychopathology, but SPD often exists in isolation (Ahn et al., 2004; Ben-Sasson et al., 2009b; Leekam et al., 2007; Van Hulle et al., 2012). Sensory dysregulation is also prevalent in children born prematurely and those with fragile X syndrome (Baranek et al., 2008; Goldsmith et al., 2006; Wickremasinghe et al., 2013). While there have been many prior investigations of the biological basis of ADHD, autism, prematurity, and even less common diseases such as fragile X, the neural substrates of SPD remain poorly understood. "
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    ABSTRACT: Sensory processing disorders (SPD) affect 5-16% of school-aged children and can cause long-term deficits in intellectual and social development. Current theories of SPD implicate primary sensory cortical areas and higher-order multisensory integration (MSI) cortical regions. We investigate the role of white matter microstructural abnormalities in SPD using diffusion tensor imaging (DTI). DTI was acquired in 16 boys, 8-11 years old, with SPD and 24 age-, gender-, handedness- and IQ-matched neurotypical controls. Behavior was characterized using a parent report sensory behavior measure, the Sensory Profile. Fractional anisotropy (FA), mean diffusivity (MD) and radial diffusivity (RD) were calculated. Tract-based spatial statistics were used to detect significant group differences in white matter integrity and to determine if microstructural parameters were significantly correlated with behavioral measures. Significant decreases in FA and increases in MD and RD were found in the SPD cohort compared to controls, primarily involving posterior white matter including the posterior corpus callosum, posterior corona radiata and posterior thalamic radiations. Strong positive correlations were observed between FA of these posterior tracts and auditory, multisensory, and inattention scores (r = 0.51-0.78; p < 0.001) with strong negative correlations between RD and multisensory and inattention scores (r = - 0.61-0.71; p < 0.001). To our knowledge, this is the first study to demonstrate reduced white matter microstructural integrity in children with SPD. We find that the disrupted white matter microstructure predominantly involves posterior cerebral tracts and correlates strongly with atypical unimodal and multisensory integration behavior. These findings suggest abnormal white matter as a biological basis for SPD and may also distinguish SPD from overlapping clinical conditions such as autism and attention deficit hyperactivity disorder.
    Full-text · Article · Dec 2013 · Clinical neuroimaging
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