Quantifying naturalistic social gaze in fragile X syndrome using a novel eye tracking paradigm

Hall, Scott S.; Frank, Michael C.; Pusiol, Guido; Farzin, Faraz; Reiss, Allan L.

doi:10.1002/ajmg.b.32331

Cited by 36 publications

(36 citation statements)

References 47 publications

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“…Interestingly, using eye gaze shifts—eye gaze to a person’s face that alternates between the person and an object—for the purposes of behavior requests, joint attention, and responding to communication has been reported as relatively intact in infants and young children with FXS (Marschik et al, 2014; Roberts et al, 2002). These findings contrast with research on older children, adolescents, and adults that has identified difficulties using eye gaze for initiating and maintaining social interactions (Hall et al, 2015; Williams, Porter, & Langdon, 2013) and gaze avoidance, (Cohen et al, 1988; Murphy, Abbeduto, Schroeder, & Serlin, 2007) as core aspects of the FXS phenotype. However, these studies have primarily focused on eye gaze in FXS outside of a communication context.…”

Section: Introductioncontrasting

confidence: 95%

Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder

Hahn

Brady

McCary

et al. 2017

Research in Developmental Disabilities

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Background Little research in fragile X syndrome (FXS) has prospectively examined early social communication. Aims To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. Methods and Procedures Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5–14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants. Outcomes and Results Descriptively different patterns were seen across the three groups. Overall infants with FXS had lower social communication than ASIBs or TD infants when controlling for nonverbal cognitive abilities. However, infants with FXS had similar levels of social communication as ASIBs or TD infants during peek-a-boo. No differences were observed between ASIBs and TD infants. For all infants, higher social communication was related to lower ASD risk. Conclusions and Implications Findings provide insight into the developmental course of social communication in FXS. The dynamic nature of social games may help to stimulate communication in infants with FXS. Language interventions with a strong social component may be particularly effective for promoting language development in FXS.

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Section: Introductioncontrasting

confidence: 95%

Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder

Hahn

Brady

McCary

et al. 2017

Research in Developmental Disabilities

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“…The Working Group stated that measures of social cognition have not been well studied in FXS. It was noted that the relationship between performance on such measures and actual social behavior is not strong [77]. The Working Group concluded that both the Social Responsiveness Scale (SRS) [78] and the use of eye-tracking technology to assess attention to social events were promising but required further validation in FXS.

Social Responsiveness Scale (SRS).

…”

Section: Cognitive Measuresmentioning

confidence: 99%

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Budimirović

Berry‐Kravis

Erickson

et al. 2017

J Neurodevelop Disord

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131

158

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ObjectiveFragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive review published in 2013. Nevertheless, the disappointing outcome of several recent phase III drug trials in FXS, and parallel efforts at evaluating behavioral endpoints for trials in autism spectrum disorder (ASD), has emphasized the need for re-assessing outcome measures and revising recommendations for FXS.MethodsAfter performing an extensive database search (PubMed, Food and Drug Administration (FDA)/National Institutes of Health (NIH)’s www.ClinicalTrials.gov, etc.) to determine progress since 2013, members of the Working Groups who published the 2013 Report evaluated the available outcome measures for FXS and related neurodevelopmental disorders using the COSMIN grading system of levels of evidence. The latter has also been applied to a British survey of endpoints for ASD. In addition, we also generated an informal classification of outcome measures for use in FXS intervention studies as instruments appropriate to detect shorter- or longer-term changes.ResultsTo date, a total of 22 double-blind controlled clinical trials in FXS have been identified through www.ClinicalTrials.gov and an extensive literature search. The vast majority of these FDA/NIH-registered clinical trials has been completed between 2008 and 2015 and has targeted the core excitatory/inhibitory imbalance present in FXS and other neurodevelopmental disorders. Limited data exist on reliability and validity for most tools used to measure cognitive, behavioral, and other problems in FXS in these trials and other studies. Overall, evidence for most tools supports a moderate tool quality grading. Data on sensitivity to treatment, currently under evaluation, could improve ratings for some cognitive and behavioral tools. Some progress has also been made at identifying promising biomarkers, mainly on blood-based and neurophysiological measures.ConclusionDespite the tangible progress in implementing clinical trials in FXS, the increasing data on measurement properties of endpoints, and the ongoing process of new tool development, the vast majority of outcome measures are at the moderate quality level with limited information on reliability, validity, and sensitivity to treatment. This situation is not unique to FXS, since reviews of endpoints for ASD have arrived at similar conclusions. These findings, in conjunction with the predominance of parent-based measures particularly in the behavioral domain, indicate that endpoint development in FXS needs to continue with an emphasis on more objective measures (observational, direct testing, biomarkers) that reflect meaningful improvements in quality of life. A major continuous challenge is the development of measurement tools concurrently with testing drug safety and efficacy in clinical trials.

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“…Similarly, observational studies of young children with FXS suggest that joint attention and joint engagement are commensurate with developmental level (Hahn et al, 2016; Roberts et al, 2002). Also during social interactions, it seems that young children with FXS are particularly skilled at using eye gaze shifts for the purpose of sharing interests, making requests, and commenting (Roberts et al, 2002), despite the extant research on children, adolescents, and adults with FXS that reports impairments in eye gaze, especially for social purposes (Cohen et al, 1988; Hall et al, 2015; Hessl, Glaser, Dyer-Friedman, & Reiss, 2006; Murphy et al, 2007; Wolff et al, 1989). Thus, it is possible that difficulties with eye gaze have not yet emerged as a phenotypic behavior in very young children with FXS (Marschik et al, 2014; Wolff et al, 1989) and may actually be a key behavior that supports joint attention in early development.…”

Section: Early Social Development In Neurogenetic Disordersmentioning

confidence: 99%

Joint Attention and Early Social Developmental Cascades in Neurogenetic Disorders

Hahn¹

2016

International Review of Research in Developmental Disabilities

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This review examines what is known about joint attention and early social development in three neurogenetic syndromes: Down syndrome, Williams syndrome, and fragile X syndrome. In addition, the potential cascading effects of joint attention on subsequent social development, especially social interaction and social cognition are proposed. The potential issues and complexities associated with conducting prospective, longitudinal studies of infant social development in neurogenetic disorders are discussed.

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Quantifying naturalistic social gaze in fragile X syndrome using a novel eye tracking paradigm

Cited by 36 publications

References 47 publications

Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder

Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Joint Attention and Early Social Developmental Cascades in Neurogenetic Disorders

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