Medical Issues in Adults with Rett Syndrome – A National Survey

Henriksen, Mari Wold; Breck, Hilde; Tetzchner, Stephen von; Paus, Benedicte; Skjeldal, Ola H.

doi:10.1080/17518423.2019.1646341

Cited by 7 publications

(4 citation statements)

References 36 publications

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“…Our data are in line with previous reports when considering the clinical presentation of the disease, as the classic RS was the most frequent form with the highest number of epilepsy cases and non-ambulatory status [9]. A recent National Survey conducted in Norway, including only adult patients, confirmed a high prevalence of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmotility, and epilepsy) [23] .…”

Section: Discussionsupporting

confidence: 92%

Care Issues in Patients with Rett Syndrome: A Parental Perspective

Cherchi,

Chiappini,

Chiarini Testa

et al. 2023

Children

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Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings. Methods: A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome. Results: The data refers to 52 patients, all females, with a median age of 15 years at the time of the survey. Concerning RS specificity, our data confirm the high complexity of this chronic, multifaceted condition, mainly characterized by the presence of epilepsy, apnea, severe scoliosis, and gastrointestinal symptoms. The specialists more frequently involved in the care of patients were general practitioners or family pediatricians (98%) and neurologists (92%), and more rarely physiatrists (71%). Only 15% of patients were followed by a pulmonologist, despite the fact that respiratory problems were frequent (apneas were present in 81% of patients, and 2% had a tracheostomy). Although 63.5% of patients presented with gastrointestinal symptoms and 2% had a gastrostomy, only 33% were followed by a gastroenterologist. Moreover, although orthopedic issues were present in 78.8% of patients, including severe scoliosis in 22% of them, only 25% were followed by an orthopedist. Furthermore, despite the fact that RS patients are fragile, about one quarter of them were not vaccinated. As far as organizational issues are concerned, several specialized centers are located in various regions throughout the country. As a consequence, the high mobility rate from one center to another resulted in non-homogeneous assistance. Conclusions: The study shows that caregivers of RS patients take over most obligations and burdens by increasing their perceived level of stress. For the majority of patients, the most frequent complications were not followed by the reference subspecialist, with the only exception of epilepsy. Moreover, improving vaccination strategies for these patients is necessary.

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Section: Discussionsupporting

confidence: 92%

Care Issues in Patients with Rett Syndrome: A Parental Perspective

Cherchi,

Chiappini,

Chiarini Testa

et al. 2023

Children

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“…In the literature, independent walking and sitting was shown to be related to a lower risk of severe spinal deformities [4,8,9]. Recent studies conducted on large samples of patients also highlighted a correlation between walking capacity and the evolution of scoliosis [8,9,30]. Our data are in agreement with this general picture, and support the assumption that impaired walking and poor stair negotiation are associated with scoliosis in RTT.…”

Section: Discussionsupporting

confidence: 89%

Clinical and genetic correlations of scoliosis in Rett syndrome

et al. 2022

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Aim To identify the clinical features correlating with the presence and severity of scoliosis in girls with Rett syndrome (RTT). Method Seventy-five girls with a clinical and genetically determined diagnosis of RTT participated in this cross-sectional study. Clinical scales administered included the Rett assessment rating scale, the modified Ashworth scale, the Rett syndrome motor evaluation scale, the PainAD, and the scale of evaluation of purposeful hand function. Multivariable analyses, such as ordinal logistic regression and ANCOVA, were used to assess the correlation between these scales and a clinical score of scoliosis. Results About 60% of patients had scoliosis, in general mild or moderate. The severity of scoliosis correlated with age and important neurological factors such as muscular hypertonus and hyperreflexia, standing, walking (level walking and on stairs), and postural transitions. No association was found with global disease severity, hand function, pain, or type of genetic mutation. Interpretation Scoliosis is a relevant problem in RTT. It should be carefully monitored along the life span, especially in conjunction with (loco-)motor impairment in these patients.

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“…The limits of the study are strictly correlated with its retrospective design, the rarity of the explored diseases, and the heterogeneous spectrum of genetic etiologies while a bias might be represented by the inclusion of patients with an established molecular genetic diagnosis only (and the subsequent exclusion of patients with comparable spectra but without molecular genetic confirm). Moreover, this study did not systematically explore the longitudinal changes of epilepsy and movement disorder phenotypes from infancy into adulthood with a subsequent possible loss of useful information about prognostic implications even if these details are already available in the literature for some single-gene diseases (24)(25)(26). A further limit may be correlated with the current unavailability of an acceptable classification for movement disorders taking into account specific pediatric peculiarities (i.e., the high quote of mixed movement disorders, disorders of tone and postures, weakness, ataxia, and apraxia).…”

Section: Discussionmentioning

confidence: 99%

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study

Mastrangelo

Galosi²,

Cesario³

et al. 2022

Front. Neurol.

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BackgroundThis paper aimed to evaluate the frequency of observation of genetically determined developmental encephalopathies with epilepsy and movement disorders in a specialistic center, the distribution of etiologies and presenting clinical hallmarks, and the mean times for the achievement of molecular genetic diagnosis.Patients and MethodsRetrospective data about clinical phenotypes, etiology, and diagnostic pathways were collected in all the genetically confirmed patients with developmental encephalopathies with epilepsy and movement disorders referred to our institution between 2010 and 2020. The cohort was divided into two groups according to the predominant movement disorder type: 1) Group A: patients with hyperkinetic movement disorders; 2) Group B: patients with hypokinetic movement disorders. Both groups were analyzed in terms of developmental, epileptic, and movement disorder phenotypes.ResultsThe cohort included 69 patients (Group A = 53; Group B = 16). The etiological spectrum was heterogeneous with a predominance of Rett and Angelman syndrome in Group A and neurodegenerative disorders in Group B. A moderate/severe intellectual disability was assessed in 58/69 patients (mean age at the first signs of developmental impairment = 1,87 ± 1,72 years). Group A included patients with an earlier onset of epileptic seizures (2,63 ± 3,15 vs. 4,45 ± 5,55 years of group B) and a predominant generalized motor semiology of seizures at the onset. Focal seizures were the main initial epileptic manifestations in Group B. Seizures were noticed earlier than movement disorders in Group A while the opposite occurred in Group B. A higher increase in molecular genetic diagnosis was obtained in the last five years. Mean diagnostic delay was longer in Group B than in Group A (12,26 ± 13,32 vs. 5.66 ± 6.41 years). Chorea as an initial movement disorder was associated with a significantly longer diagnostic delay and a higher age at etiological diagnosis.ConclusionsThis study suggested: (a) a higher frequency of genetic defects involving neurotransmission, neuronal excitability, or neural development in patients with hyperkinetic movement disorders; (b) a higher frequency of neurodegenerative courses and a longer diagnostic delay in patients with hypokinetic movement disorders.

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Medical Issues in Adults with Rett Syndrome – A National Survey

Cited by 7 publications

References 36 publications

Care Issues in Patients with Rett Syndrome: A Parental Perspective

Care Issues in Patients with Rett Syndrome: A Parental Perspective

Clinical and genetic correlations of scoliosis in Rett syndrome

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study

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