The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

Mount, Rebecca H.; Charman, Tony; Hastings, Richard P.; Reilly, Sheena; Cass, Hilary

doi:10.1111/1469-7610.00236

Cited by 156 publications

(207 citation statements)

References 47 publications

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“…and H.Y.Z., unpublished observation). These observations are consistent with findings from clinical investigations of the behavior of RTT patients, which indicate that episodes of heightened anxiety occur more frequently in RTT (up to 75% of cases) than in other forms of mental retardation (2,20). Anxiety is also reported in cases in which MECP2 mutations cause additional neurobehavioral phenotypes (21,22).…”

supporting

confidence: 88%

“…We analyzed Crh expression in Mecp2-null mice, but we did not detect any significant abnormalities, possibly because of the time at which we tested them or other features of this mutant (data not shown). With regard to humans with RTT, careful surveys indicate that anxiety-like behaviors occur frequently (2,20). Furthermore, there is evidence of increased urinary cortisol excretion in girls with RTT (34), suggesting that humans with MECP2 mutations also experience elevated serum glucocorticoid levels.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical features of RTT include mental retardation, ataxia, hand stereotypes, seizures, and breathing irregularities (1). In addition, behavioral abnormalities, most prominently social behavior deficits and autistic features, are prominent (1,2). Mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes the MeCP2 protein, account for the vast majority of RTT cases (1,3).…”

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confidence: 99%

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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome

McGill

Bundle²,

Yaylaoglu³

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

217

167

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Rett syndrome (RTT), a postnatal neurodevelopmental disorder, is caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Children with RTT display cognitive and motor abnormalities as well as autistic features. We studied mice bearing a truncated Mecp2 allele (Mecp2 308/Y mice) and found evidence of increased anxiety-like behavior and an abnormal stress response as evidenced by elevated serum corticosterone levels. We found increased corticotropin-releasing hormone (Crh) gene expression in the paraventricular nucleus of the hypothalamus, the central amygdala, and the bed nucleus of the stria terminalis. Finally, we discovered that MeCP2 binds the Crh promoter, which is enriched for methylated CpG dinucleotides. In contrast, the MeCP2 308 protein was not detected at the Crh promoter. This study identifies Crh as a target of MeCP2 and implicates Crh overexpression in the development of specific features of the Mecp2 308/Y mouse, thereby providing opportunities for clinical investigation and therapeutic intervention in RTT.autism ͉ corticotropin-releasing hormone ͉ methyl-CpG-binding protein 2

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supporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome

McGill

Bundle²,

Yaylaoglu³

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

217

167

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“…It is characterized by normal early development followed by regression, leading to loss of spoken language and/or purposeful hand use, gait abnormalities, and development of stereotypic hand movements. Other common features include growth retardation, seizures, breathing abnormalities, vasomotor disturbances, and abnormal behavior 1, 2, 3, 5, 6, 7, 8. The current standard of care is symptomatic management, with no available treatments aimed at ameliorating the cardinal symptoms of the disorder 9, 10, 11…”

Section: Introductionmentioning

confidence: 99%

Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome

O’Leary

Kaufmann

Barnes

et al. 2018

Ann Clin Transl Neurol

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ObjectiveTo measure the efficacy of mecasermin (recombinant human insulin‐like growth factor 1, rhIGF‐1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double‐blind crossover study design.MethodsThirty girls with classic RTT in postregression stage were randomly assigned to placebo or rhIGF‐1 in treatment period 1 and crossed over to the opposite assignment for period 2 (both 20 weeks), separated by a 28‐week washout period. The primary endpoints were as follows: Anxiety Depression and Mood Scale (ADAMS) Social Avoidance subscale, Rett Syndrome Behaviour Questionnaire (RSBQ) Fear/Anxiety subscale, Parent Target Symptom Visual Analog Scale (PTSVAS) top three concerns, Clinical Global Impression (CGI), Parent Global Impression (PGI), and the Kerr severity scale. Cardiorespiratory‐ and electroencephalography (EEG)‐based biomarkers were also analyzed.ResultsThere were no significant differences between randomization groups. The majority of AEs were mild to moderate, although 12 episodes of serious AEs occurred. The Kerr severity scale, ADAMS Depressed Mood subscale, Visual Analog Scale Hyperventilation, and delta average power change scores significantly increased, implying worsening of symptoms. Electroencephalography (EEG) parameters also deteriorated. A secondary analysis of subjects who were not involved in a placebo recall confirmed most of these findings. However, it also revealed improvements on a measure of stereotypic behavior and another of social communication.InterpretationAs in the phase 1 trial, rhIGF‐1 was safe; however, the drug did not reveal significant improvement, and some parameters worsened.

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“…29 In contrast, automatic and more spontaneous hand movements such as scratching or rubbing eyes are performed with much greater ease. 30 …”

Section: Dyspraxiamentioning

confidence: 99%

Perspectives on hand function in girls and women with Rett syndrome

Downs¹,

Parkinson²,

Ranelli³

et al. 2013

Developmental Neurorehabilitation

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The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome

Cited by 156 publications

References 47 publications

Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome

Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome

Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome

Perspectives on hand function in girls and women with Rett syndrome

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