Breanne J. Byiers

Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate significant gender differences in frequency, topography, and location of SIB as well as sleep difficulties, comorbid conditions, pain sensitivity, and seizures. Matched pair comparisons (SIB vs. no SIB) revealed differences for males in sensory and attention problems, hyperactivity, aggression, autism, and anxiety and for females, in autism, attention, and anxiety. These results further clarify gender differences as well as comorbidity patterns between children with fragile X syndrome with and without SIB.

Parent Reported Pain in Rett Syndrome

Objectives:Clinical reports suggest that patients with Rett syndrome (RTT) live with significant chronic health issues as well as severe motor and communication impairments. Consequently, patients with RTT may be at risk for living with pain but not having it recognized. The purpose of this preliminary study was to document parent reported estimates of pain frequency, pain communication, and pain source. Methods:Caregivers of 44 patients with clinically diagnosed RTT (mean RTT age = 21.5, SD = 13.5) completed a health survey about their daughter that contained a number of items specific to pain from the Non-Communicating Childrens Pain Checklist – Revised Survey Results:Among survey responders, 24% reported that their child had experienced pain on 8 or more days (> 1 week) in the previous 30 days. The most frequent form of pain communication was facial expression (85%) and vocalization (82%, eg, moan, cry). The most commonly reported pain source was gastro-intestinal (66%). Pain frequency was significantly (P<0.05) correlated with age (0.41), number of pain sources (0.72), and number of health problems (0.45); and the number pain sources was significantly (P<0.05) correlated with number of health problems (0.67). Discussion:These preliminary results suggest that pain is a problem for a significant subgroup of patients with RTT. Almost one quarter of respondents indicated their daughters experience over a week of pain per month. The frequent health and communication issues associated with RTT suggest an increased risk that pain may be overlooked or discounted in this vulnerable population.

Functional Communication Training in Rett Syndrome: A Preliminary Study

Rett syndrome (RTT) is associated with a range of serious neurodevelopmental consequences including severe communicative impairments. Currently, no evidence-based communication interventions exist for the population ( Sigafoos et al., 2009 ). The purpose of the current study was to examine the effectiveness of functional assessment (FA) and functional communication training (FCT) methods for teaching 3 individuals (ages 15-47 years) with classic RTT novel communicative behaviors. Using single-case experimental designs, functional reinforcers were identified (FA) and each participant quickly learned to activate a voice-output switch to obtain a reinforcer (FCT). These results suggest that individuals with classic RTT can learn novel communicative responses, which has important implications for future intervention research.

Seizures and Pain Uncertainty Associated With Parenting Stress and Rett Syndrome

Data were collected parenting stress, adaptive behavior, pain, and health issues from the caregivers of 35 girls and women with Rett syndrome (mean age = 20.3). A majority (60%) of parents reported stress in the clinical range on at least 1 subscale of the Parenting Stress Index–Short Form. Seizures and uncertainty about their daughter’s gastrointestinal pain experience were significantly associated with higher levels of parenting stress. No other child factors (adaptive behavior, age, residential status) were significantly related to parenting stress. Factors related to chronic health concerns (seizures, ambiguous pain presentation) may be important when considering family stress issues in relation to general outcomes for girls with Rett syndrome and related developmental disorders.

Conditional Use of a Request for Assistance Considering Generalization

Individuals with autism spectrum disorder (ASD) frequently exhibit generalization errors, but many instructional programs fail to address this deficit. Generalization errors encompass when the learner should extend the use of a newly taught behavior to other contexts but does not (under-generalization), as well as when he or she should not use the newly established behavior in new contexts but does (over-generalization). This study was designed to evaluate the generalization errors of a preschooler with ASD. Following an intervention in which the participant was taught to request assistance with difficult tasks using a continuous reinforcement schedule, generalization gradients across levels of task difficulty were implemented to examine patterns of generalization. Initial results showed over-generalization of assistance requests and corresponding reductions in independent (the absence of any instructional prompts) task completion across all levels of task difficulty. A final phase involving competing schedules of reinforcement for assistance requests and independent work with video modeling led to improved conditional use of assistance requests. Implications for teaching conditional use of assistance requests are discussed.

The need for unbiased cognitive assessment in Rett syndrome: is eye tracking the answer?

Although Rett syndrome was initially described in 1966, it was virtually unknown in the broader medical community until 1983. Since then, major advances have taken place, including the implication of the MECP2 gene in the majority of cases of Rett syndrome, as well as the development of mouse models recapitulating the core characteristics of the disorder. Progress also has been made in understanding many aspects of the genotype-phenotype associations observed in Rett syndrome. Significant effort is being made towards developing targeted therapeutics to reverse or rescue the phenotype. Despite this impressive progress towards a complete understanding of the genetic underpinnings of the disorder, research aimed at developing a full observationally-based description of the Rett syndrome behavioral phenotype has been relatively stagnant over the last three decades (the RTT natural history study notwithstanding)1. As progress continues at the bench, there is a renewed need to refine (and possibly redefine) the range of therapeutic outcomes and clinical endpoints relevant to Rett syndrome. There remain relatively large knowledge gaps specific to the Rett syndrome behavioral phenotype. It is not clear what directly observable features of the syndrome may be most relevant for understanding health and behavior needs of individuals living with Rett syndrome, and how that information could be used to improve intervention/support service options. Novel and valid assessment approaches to understanding the Rett syndrome behavioral phenotype are needed.

Infrared Thermal Analysis and Individual Differences in Skin Temperature Asymmetry in Rett Syndrome

PURPOSE We evaluated the feasibility of using a portable infrared thermal camera to quantify the degree of thermal dysregulation (cold hands/feet) and test for naturally occurring within-patient skin temperature asymmetry in Rett syndrome. PROCEDURES Infrared thermal images were acquired passively from 15 patients (mean age = 13.7 years, range 4-47) with clinical diagnoses of Rett. Images were acquired using a FLIR T400 infrared thermal camera (still images recorded at 5 Hz, resolution of 320 × 240 pixels, thermal sensitivity = 0.05 °C; capture session lasted approximately 3 minutes). The infrared thermal camera was orthogonal to the body part (hands, feet) and positioned approximately 1 meter from the skins surface. RESULTS There were large intraindividual left/right differences in temperature. Seven (47%) and eight (53%) patients had statistically significant (P <0.05) left/right asymmetries between hands (mean difference = 0.87 °C, standard deviation = 1.21) and feet (mean difference = 1.73 °C, standard deviation = 3.03), respectively. Coders were reliable (intraclass correlations 0.97-0.99) on temperatures and selection of anatomical regions of interest. CONCLUSIONS The degree of thermal asymmetry may reflect prolonged activity of the sympathetic nervous system and individual differences in sympathetic regulation. As clinical trials emerge and endpoints are considered, portable infrared thermal camera may provide one noninvasive means of evaluating changes in sympathetic regulation.

Issues in Estimating Developmental Level and Cognitive Function in Rett Syndrome

Abstract Severe deficits in communication and cognitive ability are among the necessary diagnostic criteria for Rett syndrome (RTT), a progressive neurodevelopmental disorder that affects almost exclusively females. Traditional assessments, which rely on motor and verbal responding to assess comprehension and cognition, may not accurately reflect functioning in this population. To date, however, there are no comprehensive, systematic reviews of the literature regarding estimates of developmental and cognitive functioning in RTT. The purpose of this paper is to review the literature regarding functioning in comprehension, cognition, and adaptive behavior with a specific focus on the limitations of existing assessment approaches. Suggestions for future research are also discussed.

Promoting conditional use of communication skills for learners with complex communication needs: A tutorial

Purpose Conditional use of communication skills refers to the ability of a learner to appropriately generalize and discriminate when, where, and how to communicate based on constant variation and shifts in environmental cues. Method We describe discrimination and generalization challenges encountered by learners with complex communication needs and ways in which these challenges are fostered through traditional communication intervention programming. We address arrangements in instruction that maximize the probability of learners acquiring the conditional use of new vocabulary and the modest instructional technology implemented when planning for generalization. Results We propose establishing well-discriminated and generalized use of new vocabulary items through the application of a general case instruction framework to communication intervention programming. Conclusion We provide intervention methodology, including intervention steps for general case instruction, a plethora of functional examples, and graphic displays to assess and intervene to promote conditional use of communication skills for learners with complex communication needs.

A case‐controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery

Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome.