Evidence map›Paper›PMID 42570201›Full record

ArticleNeurology and therapy2026

Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.

Bruria Ben-Zeev, Elsa Rossignol, Daniel E Lumsden, Natalie Guido-Estrada, Deborah A Bilder, Monica Coenraads, Sigal Hertz Tirosh, Paige Nues, Sabrina Millson, Rachael Stevenson and 4 more

Abstract read
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In one paragraph

Article in Neurology and therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Bruria Ben-ZeevPediatric Neurology Department, the Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.ORCID http://orcid.org/0009-0003-0944-1881
Elsa RossignolDivision of Child Neurology, CHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC, Canada.ORCID http://orcid.org/0000-0002-9304-9385
Daniel E LumsdenChildren's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.ORCID http://orcid.org/0000-0002-5524-6177
Natalie Guido-EstradaDivision of Child Neurology, Rady Children's Health, University of California San Diego, San Diego, CA, USA.ORCID http://orcid.org/0000-0003-4170-6379
Deborah A BilderDepartment of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah Huntsman Mental Health Institute, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0003-2202-5746
Monica CoenraadsRett Syndrome Research Trust, Trumbull, CT, USA.
Sigal Hertz TiroshIsrael Rett Syndrome Association, Tel Aviv, Israel.
Paige NuesInternational Rett Syndrome Foundation, Cincinnati, OH, USA.
Sabrina MillsonOntario Rett Syndrome Association, London, ON, Canada.
Rachael StevensonReverse Rett, Manchester, UK.
John AshkenasEquiPoise Communications, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-1773-3820
Chelsea KarbocusTaysha Gene Therapies, Inc., Suite 1430, 3000 Pegasus Park Drive, Dallas, TX, 75247, USA.
Emily McGinnisTaysha Gene Therapies, Inc., Suite 1430, 3000 Pegasus Park Drive, Dallas, TX, 75247, USA.
Kristin LaBounty PhillipsTaysha Gene Therapies, Inc., Suite 1430, 3000 Pegasus Park Drive, Dallas, TX, 75247, USA. kphillips@tayshagtx.com.ORCID http://orcid.org/0009-0008-7104-9561

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCaregivers have first-hand experience of facing the daily challenges of Rett syndrome (RTT). The aim of this study was to understand caregivers' experiences of RTT, including challenging symptoms that caregivers hope novel therapies will address.

methodsThis non-interventional, qualitative and quantitative market research study engaged caregivers of individuals with RTT in the USA, the UK, Canada, and Israel, through an online survey comprising both closed- and open-ended items. Survey domains included age of symptom onset, symptom severity and impact on quality of life, the most challenging symptoms, and caregiver perspectives on meaningful improvement.

resultsA total of 323 caregivers completed the survey. Symptoms with the most severe and lasting impact on patients' quality of life typically presented by 6 years of age. These symptoms included loss of speech, loss of purposeful use of hands, and gait disturbances. Caregivers reported a dynamic and lifelong burden associated with impairments in activities of daily living and expressed a desire for improvement across these functional domains following gene therapy treatment.

conclusionDespite RTT's clinical heterogeneity, similarities emerged in caregivers' daily experiences and their hopes regarding gene therapy treatment. Caregivers believe meaningful improvements for people with RTT would be improved function and enhanced autonomy related to fine and gross motor abilities, and improved ability to communicate needs.

Indexed as

Activities of daily livingCaregiver surveyGene therapyMeaningful improvementsMECP2Neurodevelopmental disorderQuality of lifeRett syndromeSymptom burden

Identifiers

PMID42570201
PMCPMC13615242

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.