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

AK Percy, JL Neul, TA Benke, ED Marsh… - Frontiers in …, 2023 - frontiersin.org
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) …

Aided AAC for people with severe to profound and multiple disabilities: A systematic review of interventions and treatment intensity

J Simacek, B Pennington, J Reichle… - Advances in …, 2018 - Springer
Given the limited evidence, along with a rapidly evolving state of technology, research is
needed to drive effective and efficient communication intervention for people with severe to …

[HTML][HTML] Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome

JL Neul, AK Percy, TA Benke, EM Berry-Kravis… - Contemporary clinical …, 2022 - Elsevier
Introduction Rett syndrome (RTT) is a debilitating neurodevelopmental disorder with no
approved treatments. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N …

Using eye-tracking technology for communication in Rett syndrome: perceptions of impact

K Vessoyan, G Steckle, B Easton… - Augmentative and …, 2018 - Taylor & Francis
Studies have investigated the use of eye-tracking technology to assess cognition in
individuals with Rett syndrome, but few have looked at this access method for …

Trofinetide for the treatment of Rett syndrome: results from the open-label extension LILAC study

AK Percy, JL Neul, TA Benke, EM Berry-Kravis… - Med, 2024 - cell.com
Background Trofinetide was approved for the treatment of Rett syndrome based on the
results of the phase 3, randomized, placebo-controlled, 12-week LAVENDER study. Rett …

Eye gaze technology as a form of augmentative and alternative communication for individuals with Rett syndrome: experiences of families in The Netherlands

GS Townend, PB Marschik, E Smeets… - … of developmental and …, 2016 - Springer
This paper provides a brief report on families' experiences of eye gaze technology as one
form of augmentative and alternative communication (AAC) for individuals with Rett …

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

GS Townend, TE Bartolotta, A Urbanowicz… - Augmentative and …, 2020 - Taylor & Francis
Difficulties with communication have a profound impact on the lives of individuals with Rett
syndrome and their caregivers. Globally, many families report difficulty accessing …

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials

AG Lopes, SK Loganathan, J Caliaperumal - Brain Sciences, 2024 - mdpi.com
Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency
of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; …

Overview of social cognitive dysfunctions in rare developmental syndromes with psychiatric phenotype

A Morel, E Peyroux, A Leleu, E Favre, N Franck… - Frontiers in …, 2018 - frontiersin.org
Rare neurodevelopmental syndromes often present social cognitive deficits that may
underlie difficulties in social interactions and increase the risk of psychosis or autism …

A severity comparison between Italian and Israeli Rett syndrome cohorts

A Romano, M Lotan, RA Fabio - Diagnostics, 2023 - mdpi.com
Rett syndrome (RTT) is a neurodevelopmental disorder marked by profound cognitive,
communication, and motor impairments. Despite identified genotype/phenotype …