Gastrointestinal Dysmotility in Rett Syndrome

Baikie, Gordon; Ravikumara, Madhur; Downs, Jenny; Naseem, Nusrat; Wong, Kingsley; Percy, Alan K.; Lane, Jane; Weiss, Batia; Ellaway, Carolyn; Bathgate, Katherine; Leonard, Helen

doi:10.1097/mpg.0000000000000200

Cited by 59 publications

(54 citation statements)

References 47 publications

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“…The latter include aggressive nutritional management, with particular attention to adequate caloric intake and calcium and vitamin D metabolism, prevention of gastrointestinal and orthopedic complications, as well as the entire range of rehabilitation therapies. Some of these RTT-specific approaches have been formalized as management guidelines [24,28–32], with others still under development.…”

Section: Rtt Diagnosis Clinical Features and Managementmentioning

confidence: 99%

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Kaufmann

Stallworth

Everman

et al. 2016

Expert Opinion on Orphan Drugs

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Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation. Expert opinion: Neurobiologically based drug trials are the ultimate goal in RTT, and due to the complexity and global nature of the disorder, drugs targeting both general mechanisms (e.g., growth factors) and specific systems (e.g., glutamate modulators) could be effective. Trial design should optimize data on safety and efficacy, but selection of outcome measures with adequate measurement properties, as well as innovative strategies, such as those enhancing synaptic plasticity and use of biomarkers, are essential for progress in RTT and other neurodevelopmental disorders.

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Section: Rtt Diagnosis Clinical Features and Managementmentioning

confidence: 99%

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Kaufmann

Stallworth

Everman

et al. 2016

Expert Opinion on Orphan Drugs

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“…Problems involving the gastrointestinal tract are seen from top to bottom [70–73]. These include manipulation of food in the mouth, swallowing issues, gastroesophageal reflux, delayed gastric emptying, constipation, and gallbladder dysfunction.…”

Section: Gastrointestinal Featuresmentioning

confidence: 99%

Progress in Rett Syndrome: from discovery to clinical trials

Percy

2016

Wien Med Wochenschr

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SummaryFifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.

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“…Health and disability supports and services for Rett syndrome may include developmental therapies (e.g., gross motor function [Lotan et al, 2012]) and medical management of comorbidities (e.g., gastrointestinal and nutritional problems [Baikie et al, 2014]), although the level of evidence for these interventions is generally low. More empirical research is needed to determine which treatments, services and programs are most effective in improving outcomes for those affected by Rett syndrome.…”

Section: Introductionmentioning

confidence: 99%

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Epstein

Leonard

Davis

et al. 2015

American J of Med Genetics Pt A

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Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The sample comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter's life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group.

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Gastrointestinal Dysmotility in Rett Syndrome

Abstract: Gastrointestinal dysmotility occurs commonly in Rett syndrome. These evidence- and consensus-based recommendations have the potential to improve care of dysmotility issues in a rare condition and stimulate research to improve the present limited evidence base.

Cited by 59 publications

References 47 publications

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Progress in Rett Syndrome: from discovery to clinical trials

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

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