Characteristic behaviors associated with gait of individuals with Rett syndrome

Young, David R.; Suter, Bernhard; Levine, Jackson T; Glaze, Daniel G.; Layne, Charles S.

doi:10.1080/09638288.2020.1820084

Cited by 6 publications

(14 citation statements)

References 36 publications

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“…The rigidity usually starts with the ankle, and nonambulatory patients are more severely affected. In patients who were ambulatory, freezing of gait appeared to be the most characteristic movement behavior 16 . Patients who could walk were also more inclined to have the ability to form meaningful word acquisitions 41 .…”

Section: Resultsmentioning

confidence: 98%

“…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%

“…The phenotype of movement disorders might also present with different neural mechanisms. In patients with RTT, stereotypic behaviors are not observed during freezing of gait, which could suggest that the neural mechanisms underlying these processes could be independent from one another 16 …”

Section: Resultsmentioning

confidence: 99%

“…About 42% of the studies used video observations to assess movement disorders. 12 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 Others used questionnaires as the primary assessment method 11 , 33 , 34 , 35 , 36 or as an adjunct with other methods. 18 The sample was also diverse, from an analysis of 1074 patients with RTT from the RTT Natural History Study, 10 to a study exploring a few cases.…”

Section: Resultsmentioning

confidence: 99%

“…In patients who were ambulatory, freezing of gait appeared to be the most characteristic movement behavior. 16 Patients who could walk were also more inclined to have the ability to form meaningful word acquisitions. 41 Interestingly, video and treadmill walking observations were also helpful in assessing ataxic gait.…”

Section: Resultsmentioning

confidence: 99%

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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

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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.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

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

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Linking autism spectrum disorders and parkinsonism: clinical and genetic association

Shengting

Yau

Tseng

et al. 2023

Ann Clin Transl Neurol

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Background: Autism spectrum disorders (ASD) comprise many complex and clinically distinct neurodevelopmental conditions, with increasing evidence linking them to parkinsonism. Methods: We searched Medline and Embase from inception to 21 March 2022 and reviewed the bibliographies of relevant articles. Studies were screened and reviewed comprehensively by two independent authors. Results: Of 863 references from our search, we included eight clinical studies, nine genetic studies, and five case reports. Regardless of age group, Parkinson's disease (PD) and parkinsonian syndromes were more frequently observed in patients with ASD, though the evidence for increased rates of parkinsonism is less clear for children and adolescents. Parkinsonian features and hypokinetic behavior were common in Rett syndrome, with prevalence estimates ranging from 40% to 80%. Frequently observed parkinsonian features include bradykinesia, rigidity, hypomimia, and gait freezing. PD gene PARK2 copy number variations appear more frequently in ASD cases than controls. Evidence suggests that RIT2 and CD157/BST1 are implicated in ASD and PD, while the evidence for other PD-related genes (DRD2, GPCR37, the SLC gene family, and SMPD1) is less clear. Rare mutations, such as ATP13A2, CLN3, and WDR45, could result in autistic behavior and concomitant parkinsonism. Conclusion:The prevalence of parkinsonism in ASD is substantially greater than in the general population or matched controls. Various PD-associated gene loci, especially PARK2, could confer susceptibility to ASD as well. Important future directions include conducting prospective cohort studies to understand how parkinsonian symptoms may progress, genetic studies to reveal relevant gene loci, and pathophysiologic studies to identify potential therapeutic targets.

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Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

Suter

Aktürk

et al. 2022

Molec Gen & Gen Med

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Background MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2 , is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human clinical trials on the horizon, there is a need to develop clinical outcome measures for MDS. Methods We surveyed caregivers of MDS individuals to explore the frequency and severity of MDS clinical features, and identify the most meaningful symptoms/domains that need to be included in the outcome measure scales. Results A total of 101 responses were eligible for the survey. The top six most meaningful symptoms to caregivers in descending order included epilepsy, gross motor, fine motor, communication, infection, and constipation problems. Epilepsy was present in 58.4% of the subjects and 75% were drug‐resistant, Furthermore, ~12% required intensive care unit (ICU) admission. Infections were present in 55% of the subjects, and one‐fourth of them required ICU admission. Constipation was present in ~85% of the subjects and one‐third required enemas/suppositories. Conclusion Our study is one of the largest cohorts conducted on MDS individuals characterizing the frequency and severity of MDS symptoms. Additionally, these study results will contribute to establishing a foundation to develop parent‐reported outcomes in MDS.

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Characteristic behaviors associated with gait of individuals with Rett syndrome

Cited by 6 publications

References 36 publications

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

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

Linking autism spectrum disorders and parkinsonism: clinical and genetic association

Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

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