Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

Dy, Marisela E.; Waugh, Jeff L.; Sharma, Nutan; O’Leary, Heather M.; Kapur, Kush; D’Gama, Alissa M.; Şahin, Mustafa; Urion, David K.; Kaufmann, Walter E.

doi:10.1016/j.pediatrneurol.2017.05.025

Cited by 15 publications

(8 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…13,[27][28][29] This discrepancy may be explained by the recently reported low interrater reliability of HS categories. 30 Extending the findings of a previous study evaluating RTT diagnostic criteria, 6 we found that in non-RTT MECP2-positive females not only is HS prevalence low but also HS frequency and mouthing, confirming the specificity of these features to RTT. Another observation with diagnostic implications is that, while HS presence is not required for the diagnosis of atypical RTT, HS were found to be both prevalent and severe in this group.…”

Section: Discussionsupporting

confidence: 85%

“…For the longitudinal analyses, the use of the month of the visit and age at assessment could have led to slight overfitting in the models; however, since the goal of the analyses was descriptive rather than predictive, there was little if any effect on the conclusions reached. Another limitation is the use of nomenclature and subjective reporting that may not be consistently used by clinicians and parents, 30 underscoring the need for standardization of terminology and methodologies. Our investigation may also be limited by the potential ceiling effect in the MBA measure of HS severity (HS frequency); the MBA has never been formally analyzed beyond face validity either.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Hand stereotypies

Stallworth

Buchanan

et al. 2019

Neurology

Self Cite

View full text Add to dashboard Cite

ObjectiveTo characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT).MethodsData from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline. For longitudinal data, we used repeated-measures linear and logistic regression models and nonparametric tests.ResultsHS were reported in 922 participants with classic RTT (100%), 73 with atypical severe RTT (97.3%), 74 with atypical mild RTT (96.1%), and 17 females with MECP2 mutations without RTT (34.7%). Individuals with RTT who had classic presentation or severe MECP2 mutations had higher frequency and earlier onset of HS. Heterogeneity of HS types was confirmed, but variety decreased over time. At baseline, almost half of the participants with RTT had hand mouthing, which like clapping/tapping, decreased over time. These 2 HS types were more frequently reported than wringing/washing. Increased HS severity (prevalence and frequency) was associated with worsened measures of hand function. Number and type of HS were not related to hand function. Overall clinical severity was worse with decreased hand function but only weakly related to any HS characteristic. While hand function decreased over time, prevalence and frequency of HS remained relatively unchanged and high.ConclusionsNearly all individuals with RTT have severe and multiple types of HS, with mouthing and clapping/tapping decreasing over time. Interaction between HS frequency and hand function is complex. Understanding the natural history of HS in RTT could assist in clinical care and evaluation of new interventions.

show abstract

Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Hand stereotypies

Stallworth

Buchanan

et al. 2019

Neurology

Self Cite

View full text Add to dashboard Cite

show abstract

“…Clinical severity is worse in patients with decreased hand function, 10 and increases in bradykinesia and hypertonia are thought to have a role in hand functioning. As suggested by others, 17 hand stereotypies have a heterogenous phenotype. Hand mouthing and clapping/tapping were more common than hand wringing/washing, 10 but hand wringing was the most common hand stereotypy in another study 34 .…”

Section: Resultsmentioning

confidence: 61%

“…As presented in Table 1, the 43 studies captured information across the movement disorder ecosystem in patients with RTT. About 42% of the studies used video observations to assess movement disorders 12,16–32 . Others used questionnaires as the primary assessment method 11,33–36 or as an adjunct with other methods 18 .…”

Section: Resultsmentioning

confidence: 99%

Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations

Singh

Lanzarini

Nardocci

et al. 2021

Psychiatry Clin Neurosci

View full text Add to dashboard Cite

Aim This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). Method Using PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes. Results Following the thematic analysis, six themes emerged: (i) clinical features of abnormal movement behaviors; (ii) mutational profile and its impact on movement disorders; (iii) symptoms and stressors that impact on movement disorders; (iv) possible underlying neurobiological mechanisms; (v) quality of life and movement disorders; and (vi) treatment of movement disorders. Current guidelines for managing movement disorders in general were then reviewed to provide possible treatment recommendations for RTT. Conclusion Our study offers an enriched data set for clinical investigations and treatment of fine and gross motor issues in RTT. A detailed understanding of genotype–phenotype relationships of movement disorders allows for more robust genetic counseling for families but can also assist healthcare professionals in terms of monitoring disease progression in RTT. The synthesis also showed that environmental enrichment would be beneficial for improving some aspects of movement disorders. The cerebellum, basal ganglia, alongside dysregulation of the cortico‐basal ganglia‐thalamo‐cortical loop, are likely anatomical targets. A review of treatments for movement disorders also helped to provide recommendations for treating and managing movement disorders in patients with RTT.

show abstract

“…Downs et al (2014) reported an algorithm and toolkit for the management of hand stereotypies in individuals with Rett syndrome and a model for designing therapeutic strategies to improve hand function as a framework for evidence‐based practice. Dy et al (2017) also tried to define the types and features of hand stereotypies in Rett syndrome for their systematic assessment in observational and intervention studies. Despite these efforts, interventions to reduce stereotypic hand movements have not been systematised.…”

Section: Discussionmentioning

confidence: 99%

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

Hirano

Goto

Shoji

et al. 2021

Research Intellect Disabil

View full text Add to dashboard Cite

Background We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non‐intervention groups according to the presence or absence of interventions to reduce hand stereotypies. Results Information was acquired from 72 cases; 72.1% of individuals had received an intervention to reduce stereotypies at some point in their lives. An upper limb splint was the most common intervention. Age, locomotor and reaching function, diagnostic age, frequency and type of stereotypy, joint contractures and stereotypy‐associated problems separated the presence or absence of a current or past intervention. Conclusions Interventions for stereotypy‐associated problems are important and there are several variables related to whether an intervention is received.

show abstract

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

Cited by 15 publications

References 26 publications

Hand stereotypies

Hand stereotypies

Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

Contact Info

Product

Resources

About