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Book ; Online ; E-Book: Rett syndrome

Kaufmann, Walter E. / Percy, Alan K. / Clarke, Angus / Leonard, Helen / Naidu, Sakkubai

(Clinics in developmental medicine)

2017

Author's details	edited by Walter E. Kaufmann with Alan K. Percy, Angus Clarke, Helen Leonard, Sakkubai Naidu
Series title	Clinics in developmental medicine
Language	English
Size	1 Online-Ressource (XXV, 225 Seiten), Illustrationen
Publisher	Mac Keith Press
Publishing place	London
Publishing country	Great Britain
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT019510067
ISBN	978-1-909962-86-6 ; 9781909962835 ; 1-909962-86-4 ; 190996283X
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Rett syndrome: from recognition to diagnosis to intervention.

Percy, Alan K

Expert review of endocrinology & metabolism

2019 Volume 3, Issue 3, Page(s) 327–336

Abstract: Rett syndrome is a relatively rare neurodevelopmental disorder (incidence: approximately one out of 10,000 female births) that reached worldwide prominence in the early 1980s. Owing to its overwhelming predominance in females, Rett syndrome was regarded ... ...

Abstract	Rett syndrome is a relatively rare neurodevelopmental disorder (incidence: approximately one out of 10,000 female births) that reached worldwide prominence in the early 1980s. Owing to its overwhelming predominance in females, Rett syndrome was regarded as a genetic disorder. However, its occurrence is sporadic, with a recurrence risk well below 0.5%. In 1999, confirmation was provided by the demonstration of mutations in the MECP2 gene. At present, more than 95% of females who fulfill consensus criteria for Rett syndrome have a mutation in this gene. Over the past 25 years, understanding of the clinical features and natural history of this unique neurodevelopmental disorder has evolved dramatically. However, large segments of healthcare professionals and the general public still remain relatively uninformed. This review details the clinical picture of Rett syndrome and the diagnostic strategies required, explores the critical medical issues and recent advances in molecular neurobiology, provides an overview of intervention strategies that have been developed to date and sets the stage for future treatment trials as novel, and potentially effective, pharmacologic or molecular interventions become available.
Language	English
Publishing date	2019-02-12
Publishing country	England
Document type	Journal Article
ISSN	1744-8417
ISSN (online)	1744-8417
DOI	10.1586/17446651.3.3.327
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Progress in Rett Syndrome: from discovery to clinical trials.

Percy, Alan K

Wiener medizinische Wochenschrift (1946)

2016 Volume 166, Issue 11-12, Page(s) 325–332

Abstract: Fifty 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 ...

Title translation	Fortschritte beim Rett-Syndrom - von der Entdeckung zu klinischen Studien.
Abstract	Fifty 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.
MeSH term(s)	Austria ; Child ; Clinical Trials as Topic/history ; Female ; Gene Duplication/genetics ; History, 20th Century ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Rett Syndrome/diagnosis ; Rett Syndrome/genetics ; Rett Syndrome/history ; United States
Chemical Substances	MECP2 protein, human ; Methyl-CpG-Binding Protein 2
Language	English
Publishing date	2016-09
Publishing country	Austria
Document type	Biography ; Historical Article ; Journal Article
ZDB-ID	123613-1
ISSN	1563-258X ; 0254-7945 ; 0043-5341
ISSN (online)	1563-258X
ISSN	0254-7945 ; 0043-5341
DOI	10.1007/s10354-016-0491-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome.

Percy, Alan K / Neul, Jeffrey L / Benke, Timothy A / Marsh, Eric D / Glaze, Daniel G

Frontiers in pediatrics

2023 Volume 11, Page(s) 1229553

Abstract: The Rett Syndrome Behaviour Questionnaire (RSBQ), which is completed by the caregiver, is one of the most widely used efficacy measures in clinical studies of Rett syndrome (RTT) due to its specificity to the core features of RTT. As healthcare providers ...

Abstract	The Rett Syndrome Behaviour Questionnaire (RSBQ), which is completed by the caregiver, is one of the most widely used efficacy measures in clinical studies of Rett syndrome (RTT) due to its specificity to the core features of RTT. As healthcare providers participate in routine healthcare assessments of individuals with RTT in clinical practice, there is a need for these providers to understand the psychometric properties of the RSBQ and how it relates to the core clinical features of RTT. Here, we describe the characteristics of the RSBQ, review the literature on its validity and reliability as well as its performance in a phase 2 study and the recent phase 3 LAVENDER study. The RSBQ was first shown to discriminate RTT from other intellectual disorders with good inter-rater and test-retest reliability scores. It was subsequently validated as an appropriate instrument for measuring behavior in females with RTT and adopted as a clinical trial outcome. In LAVENDER, the FDA-approved drug trofinetide significantly improved the RSBQ total score over placebo in girls and women with RTT and change from baseline for all RSBQ subscores were directionally in favor of trofinetide. The change in RSBQ was aligned with the Clinical Global Impression-Improvement scale, suggesting that improvement in behavioral components may be related to overall clinical status. Given its validity and ubiquity in RTT clinical studies, it is important that the interplay of the domains and the psychometric profile of the RSBQ are understood.
Language	English
Publishing date	2023-07-28
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2023.1229553
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Article ; Online: Neuroscience. Path to treat Rett syndrome.

Percy, Alan K

Science (New York, N.Y.)

2013 Volume 342, Issue 6156, Page(s) 318–320

MeSH term(s)	Animals ; Cholesterol/metabolism ; Female ; Male ; Methyl-CpG-Binding Protein 2/genetics ; Mutation ; Rett Syndrome/genetics ; Rett Syndrome/metabolism
Chemical Substances	Methyl-CpG-Binding Protein 2 ; Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2013-10-18
Publishing country	United States
Document type	Comment ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.1245657
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Article: Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study.

Neul, Jeffrey Lorenz / Benke, Timothy A / Marsh, Eric D / Suter, Bernhard / Silveira, Lori / Fu, Cary / Peters, Sarika U / Percy, Alan K

Research square

2023

Abstract: Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) has enabled development of novel therapeutic approaches that are currently undergoing clinical evaluation or are proposed to move into clinical ... ...

Abstract	Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) has enabled development of novel therapeutic approaches that are currently undergoing clinical evaluation or are proposed to move into clinical development. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top clinical concerns in order to gain information to guide the development and selection of outcome measures for future clinical trials. Methods: Caregivers of participants enrolled in the US Natural History Study of RTT and related disorders were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for Classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in Results: The top caregiver concerns for Classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The rank order of the frequency of the top caregiver concerns for Classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. The frequency of caregiver concern for seizures, hand use, and spoken language increased in relation to clinician assessed severity in these clinical domains, showing consistency between clinician assessments and caregiver concerns. Comparison across disorders found commonalities in the top caregiver concerns between Classic RTT, Atypical RTT, Conclusion: The top caregiver concerns for individuals with RTT and the RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers.
Language	English
Publishing date	2023-03-20
Publishing country	United States
Document type	Preprint
DOI	10.21203/rs.3.rs-2566253/v1
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.

Neul, Jeffrey L / Benke, Timothy A / Marsh, Eric D / Suter, Bernhard / Silveira, Lori / Fu, Cary / Peters, Sarika U / Percy, Alan K

Journal of neurodevelopmental disorders

2023 Volume 15, Issue 1, Page(s) 33

Abstract: Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on ...

Abstract	Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders. Methods: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2. Results: The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features. Conclusion: The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers.
MeSH term(s)	Humans ; Rett Syndrome/complications ; Rett Syndrome/diagnosis ; Caregivers ; Mental Retardation, X-Linked/genetics ; Seizures ; Spasms, Infantile
Language	English
Publishing date	2023-10-13
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2487174-6
ISSN	1866-1955 ; 1866-1955
ISSN (online)	1866-1955
ISSN	1866-1955
DOI	10.1186/s11689-023-09502-z
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

Kennedy, Melissa / Glass, Larry / Glaze, Daniel G / Kaminsky, Steve / Percy, Alan K / Neul, Jeffrey L / Jones, Nancy E / Tropea, Daniela / Horrigan, Joseph P / Nues, Paige / Bishop, Kathie M / Youakim, James M

Frontiers in pharmacology

2024 Volume 14, Page(s) 1341746

Abstract: Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in ... ...

Abstract	Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the
Language	English
Publishing date	2024-01-22
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587355-6
ISSN	1663-9812
ISSN	1663-9812
DOI	10.3389/fphar.2023.1341746
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Article ; Online: Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Raspa, Melissa / Gwaltney, Angela / Bann, Carla / von Hehn, Jana / Benke, Timothy A / Marsh, Eric D / Peters, Sarika U / Ananth, Amitha / Percy, Alan K / Neul, Jeffrey L

Journal of autism and developmental disorders

2024

Abstract: Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess ...

Abstract	Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver Assessment of Symptom Severity (RCASS). Using data from the Rett Natural History Study (n = 649), we examined the factor structure, using both exploratory and confirmatory factor analysis, and the reliability and validity of the RCASS. The four-factor model had the best overall fit, which covered movement, communication, behavior, and Rett-specific symptoms. The RCASS had moderate internal consistency. Strong face validity was found with age and mutation type, and convergent validity was established with other similar measures, including the Revised Motor-Behavior Assessment Scale, Clinical Severity Scale, Clinical Global Impression Scale, and the Child Health Questionnaire. These data provide initial evidence that the RCASS is a viable caregiver-outcome measure for use in clinical trials in Rett syndrome. Future work to assess sensitivity to change and other measures of reliability, such as test-retest and inter-rater agreement, are needed.
Language	English
Publishing date	2024-03-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	391999-7
ISSN	1573-3432 ; 0162-3257
ISSN (online)	1573-3432
ISSN	0162-3257
DOI	10.1007/s10803-024-06238-0
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Rett syndrome: exploring the autism link.

Percy, Alan K

Archives of neurology

2011 Volume 68, Issue 8, Page(s) 985–989

Abstract: The presence of autism in individuals with neurodevelopmental disorders, whether transient as in Rett syndrome (RTT) or enduring as in fragile X syndrome or Down syndrome, suggests the possibility of common neurobiologic mechanisms whose elucidation ... ...

Abstract	The presence of autism in individuals with neurodevelopmental disorders, whether transient as in Rett syndrome (RTT) or enduring as in fragile X syndrome or Down syndrome, suggests the possibility of common neurobiologic mechanisms whose elucidation could fundamentally advance our understanding. This review explores the commonalities and differences between autism and RTT at clinical and molecular levels with respect to current status and challenges for each, highlights recent findings from the Rare Disease Network Natural History study on RTT, and summarizes the broad range of phenotypes resulting from mutations in the methyl-CpG-binding protein 2 gene (MECP2), which is responsible for RTT in 95% of individuals with the disorder. For RTT, animal models have been critical resources for advancing pathobiologic discovery and promise to be important test beds for evaluating new therapies. Fundamental understanding of autism based on unique genetic mechanism(s) must await similar advances.
MeSH term(s)	Animals ; Autistic Disorder/complications ; Autistic Disorder/epidemiology ; Autistic Disorder/genetics ; Comorbidity ; Disease Models, Animal ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Phenotype ; Rett Syndrome/complications ; Rett Syndrome/epidemiology ; Rett Syndrome/genetics ; Transcription, Genetic/physiology
Chemical Substances	MECP2 protein, human ; Methyl-CpG-Binding Protein 2
Language	English
Publishing date	2011-08-09
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80049-1
ISSN	1538-3687 ; 0003-9942
ISSN (online)	1538-3687
ISSN	0003-9942
DOI	10.1001/archneurol.2011.149
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