Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology

Waite, Jane; Moss, Joanna; Beck, Sarah R.; Richards, Caroline; Nelson, Lisa; Arron, Kate; Burbidge, Cheryl; Berg, Katy; Oliver, Chris

doi:10.1007/s10803-014-2283-7

Cited by 32 publications

(52 citation statements)

References 51 publications

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“…Furthermore, 40% of the sample showed a diverse profile of repetitive motor movements (such as swinging and turning on themselves), which included elevated levels of stereotyped behaviors as described in the literature (Waite et al, ).…”

Section: Resultsmentioning

confidence: 93%

“…A short attention span is described in 90% of individuals (Galéra et al, ; Stevens et al, ). Galerà et al reported high rates of repetitive motor movement and some autistic‐like behavior patterns; more recently, Waite et al () confirmed a heterogeneous profile of repetitive behaviors (e.g., body stereotypies and repetitive questions).…”

Section: Introductionmentioning

confidence: 97%

“…Nonverbal (performance) intellectual quotient (IQ) is generally higher than verbal IQ (Hennekam, ; Hennekam et al, ; Kumar, Suthar, Panigrahi, & Marwaha, ; Stevens, Carey, & Blackburn, ). RSTS individuals generally have loving and happy personalities, but in early adulthood, mood disorders, repetitive behaviors, obsessive compulsive disorders, anxiety disorders, and self‐injurious behaviors are also reported (Crawford, Waite, & Oliver, ; Hennekam et al, ; Waite et al, ). A short attention span is described in 90% of individuals (Galéra et al, ; Stevens et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

Ajmone

Avignone

Gervasini

et al. 2018

American J of Med Genetics Pt B

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Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65-70%; specifically, microdeletions or mutations in the CREBBP or EP300 genes can be found. Much is known about its clinical features and health-care protocols, but some areas of clinical knowledge are currently unsolved. In particular, few efforts have been made until now to understand the variability in the neuropsychological and neurobehavioral profile and to deepen knowledge of the neuroradiological malformative pattern. Consequently, little is known about the possible genotype-phenotype correlations of these issues. Here, we report clinical and genetic data from a cohort of 23 RSTS Italian patients. The most common features in brain magnetic resonance imaging (MRI) were dysmorphic aspects of the corpus callosum (73.6%) with or without minor dysmorphisms of cerebellar vermis, periventricular posterior white matter hyperintensity, and other less common anomalies. The most interesting feature on the whole spine MRI scans was the tendency for a low-lying conus medullaris without terminal filum thickening. These data will help to improve neuropsychiatric and neuroradiological knowledge and highlight specific genotype-phenotype correlations.

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Section: Resultsmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

Ajmone

Avignone

Gervasini

et al. 2018

American J of Med Genetics Pt B

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“…Language items not suitable for non-verbal children can be omitted; it is scored according to language level (maximum score 32 or 39), with higher scores indicating more severe symptoms. Five studies have used the SCQ to characterize autistic behavior and its severity in FXS [141, 169–172]. However, none has examined measurement properties including sensitivity.…”

Section: Behavior and Emotion 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

127

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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“…RRB are one of the core diagnostic features of ASD, however, they are not specific to ASD but are also prevalent across a range of other disorders and genetic syndromes [Moss, Oliver, Arron, Burbridge, & Berg, ] where they cannot be fully accounted for by either the potential presence of ASD or intellectual disability [Janes, Riby, & Rodgers, ; Rodgers, Riby, Janes, Connolly, & McConachie, ; Waite et al, ]. Importantly, RRB also occur in young typically developing children [Arnott et al, ; Evans et al, ; Leekam et al, ; Uljarević et al, ].…”

Section: Introductionmentioning

confidence: 99%

Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome

et al. 2019

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Restricted and repetitive behaviors (RRB) are common in individuals with 22q11.2 microdeletion syndrome (22q11.2DS), yet the underlying mechanisms of these behaviors remain poorly characterized. In the present pilot investigation, we aimed to further our understanding of RRB in 22q11.2DS by exploring their relationship with cognitive control and anxiety as well as with sex, chronological age, and full‐scale IQ. Parents of 38 children with 22q11.2DS (17 females; Mage = 11.15 years, SD = 2.46) completed the Social Communication Questionnaire as a measure of RRB and social and communication (SC) problems and the Behavioral Assessment System for Children‐2 as a measure of anxiety and cognitive control. Higher RRB scores were significantly associated with higher anxiety levels (r = 0.44, P = 0.006), more impairments in cognitive control (r = 0.56, P < 0.001), and higher SC scores (r = 0.43, P = 0.011). In the first step of the hierarchical regression model, anxiety accounted for 24.5% of variance (F = 10.05, P = 0.003); cognitive control accounted for an additional 18.1% of variance (Fchange = 11.15, P < 0.001) in the second step; SC score accounted for only 0.8% of additional variance in the third step (Fchange = 0.40, P = 0.53). The final model explained 43.4% of variance (F = 7.42, P = 0.001), with cognitive control as a unique independent predictor of RRB score (t = 2.52, P = 0.01). The current study provides the first exploration of the cognitive control—anxiety—RRB link in individuals with 22q11.2DS and points to cognitive control as a potentially viable target for treatments aimed at reducing RRB. Autism Res 2019, 12: 1737–1744. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary People with 22q11.2 deletion syndrome show high levels of repetitive behaviors, however, the previous research has not explored why people with this syndrome exhibit high rates of repetitive behaviors. Understanding the reasons for the high levels of repetitive behaviors is important given that these behaviors can be highly impairing. Our study found that repetitive behaviors were associated with impaired ability to self‐regulate and high levels of anxiety. These findings need to be further replicated; however, they are important as they suggest potentially promising ways of reducing these behaviors.

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Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology

Cited by 32 publications

References 51 publications

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

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

Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome

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