Evidence map›Paper›PMID 41804372›Full record

ArticleTherapeutic advances in rare disease

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Evelyn M Elizondo, Anne M Floyd, Allison M H Foy, Dante J Rogers, Betül Çakır-Dilek, Megan Manternach, Jessica Simacek, Rebekah L Hudock, Elizabeth I Pierpont

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Article in Therapeutic advances in rare disease. 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

9 authors.

Evelyn M ElizondoDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Anne M FloydInstitute on Community Integration, College of Education & Human Development, University of Minnesota, Minneapolis, MN, USA.
Allison M H FoyDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Dante J RogersDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Betül Çakır-DilekInstitute on Community Integration, College of Education & Human Development, University of Minnesota, Minneapolis, MN, USA.
Megan ManternachDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Jessica SimacekInstitute on Community Integration, College of Education & Human Development, University of Minnesota, Minneapolis, MN, USA.
Rebekah L HudockDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.ORCID https://orcid.org/0000-0001-6456-9835
Elizabeth I PierpontMasonic Institute for the Developing Brain, 2025 East River Parkway, Minneapolis, MN 55414, USA.ORCID https://orcid.org/0000-0001-7555-8613

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Clinical studies have begun to evaluate therapeutic approaches to address the widespread neurodevelopmental and mental health challenges associated with a group of genetic syndromes known as "RASopathies." However, the perspectives of patients and families regarding the relevance and accessibility of such treatment approaches have not been studied. Objectives: To assess the mental healthcare needs and treatment experiences encountered by individuals with RASopathies and caregivers. Design: Directed content analysis of focus group and interview transcripts. Methods: We qualitatively analyzed data from four virtual focus groups comprised of caregivers ( Results: Consistent with prior research, participants reported that attention/executive functioning, mood, and social concerns were common; anxiety was a particularly frequent comorbidity. Mental health concerns varied across settings and frequently interfaced with physical health symptoms. Barriers to care included poor accessibility of services, adverse medication effects, and a lack of provider experience or knowledge. Addressing neurodevelopmental and mental health symptoms effectively often necessitates family resilience and advocacy on the part of patients and their caregivers. Emergent themes uncovered needs for provider training pertaining to rare diseases, trauma-informed care, and improved community awareness regarding RASopathies. Conclusion: This study identified a set of actionable items to inform research, care delivery, and advocacy that reflect the expressed needs and lived experiences of participants representing both caregivers and patients with RASopathies.

Indexed as

cardiofaciocutaneous syndromeCostello syndromemental healthneurofibromatosis type 1Noonan syndromepatient-centeredpsychiatricqualitativetreatment

Identifiers

PMID41804372
PMCPMC12967363

What Socratic holds

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LicenceCC BY-NC
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Registered trials

None linked

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 Socratic graph.