Review Reports

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

The authors identified a gap in the UK-specific literature, emphasizing lived experiences and transition to adulthood, which is underexplored. It needs stronger evidence for novelty, distinctions from existing international studies,

The manuscript contributes a small PAR dataset, and a thematically organized description of systemic service barriers. But the themes are similar to many prior studies on rare disease service navigation and neurodevelopmental disorders. To elevate contribution, authors must demonstrate how the themes differ from previous findings, especially UK-based research.

Sampling strategy is unclear and potentially biased (5 young adults, 6 parents). Recruitment procedures not described in detail. No justification of sample size.

Explain how participants shaped research questions and analysis.

Role of the steering group needs clarification. How did co-development of questions shape validity? How were power dynamics managed?

Thematic analysis is mentioned but coding steps, reliability checks, and researcher reflexivity are absent.

PAR description is too vague. PAR processes (cycles, co-analysis, participant involvement in interpretation) must be explained.

No thick description or exemplar quotes seen in provided pages. Without quotes, credibility and confirmability cannot be assessed.

Describe coder training, interrater reliability checks, or reflexive notes.

Themes presented are coherent but lack depth and supporting quotes in the provided snippets.

Some themes repeat content already established in past literature (e.g., fragmented pathways, parental burden), reducing perceived originality.
Conclusions do not sufficiently address how findings answer the PAR research questions.

Policy implications are broad rather than actionable.

No mention of limitations about lack of ethnic diversity, recall bias.

Inconsistent abbreviations (CAMHS versus CAHMS).

L786. GBT-4  = > should be GPT-4.

The topic is relevant, but the methodological justification, reporting, theoretical ground, writing quality require strengthening.

Author Response

Comment 1: The authors identified a gap in the UK-specific literature, emphasizing lived experiences and transition to adulthood, which is underexplored. It needs stronger evidence for novelty, distinctions from existing international studies.

The manuscript contributes a small PAR dataset, and a thematically organized description of systemic service barriers. But the themes are similar to many prior studies on rare disease service navigation and neurodevelopmental disorders. To elevate contribution, authors must demonstrate how the themes differ from previous findings, especially UK-based research.

Response 1: Thank you for this comment. We agree that clarifying the novelty of our findings is essential. While some themes (e.g., fragmented care pathways, advocacy burden) echo patterns observed in rare disease and neurodevelopmental disorder literature, our study makes several distinct contributions. Firstly, there is minimal literature on 22q and service navigation and what little existing research exist only in large consortia in Europe and the US, with no literature focus on the systemic barriers in the UK. Our findings here highlight key gaps in UK service provision, including the lack of adult-focused 22q services and abrupt discharge from paediatric care, absence of structured transition protocols within NHS setting and reliance on generic mental health provision ill-suited for complex genetic conditions. While this is likely also true for other rare diseases, the lack of awareness in the UK is concerning considering the high prevalence of 22q (1 in pprox.. 2000), one of the highest. As such, this population would benefit significantly from more UK specific research, as well as more streamlined services and interventions, and the study aimed to highlight some of the key issues. In addition, prior studies that rely primarily on retrospective parental accounts and not many included the young people themselves, whereas our PAR framework actively involved families and young adults in shaping research questions and interpretation. This co-production revealed nuanced experiences, such as strategic use of alternative diagnoses to access support, that are underrepresented in existing UK literature. Further, while we agree broad categories (e.g., fragmented systems) appear in previous work, our analysis identified unique subthemes such as “Navigating labels”: Families strategically using autism or anxiety diagnoses to access services, reflecting systemic gatekeeping; “Beyond the manual”: Mental health interventions described as rigid “tick-box” exercises, with examples of harm during crisis (e.g., dismissive advice like “hide the knives”); and Transition anxiety: Emotional deterioration linked to normative expectations of independence, highlighting developmental gaps and systemic discontinuity. Our findings highlight these voices, revealing lived experiences of employment stress, financial vulnerability, and future uncertainty.

To address your important suggestion, we have added a sentence in the Introduction (lines 44-46), as well as a clarification in the study aim (lines 144-146). We have expanded the Discussion section to explicitly contrast our findings with similar studies in both 22q internationally (e.g., Goodwin et al., 2020; O’Donoghue et al., 2022), as well as rare disease studies (e.g. McMullan et al., (2020); Walton et al., (2023) (lines 685-690).

Comment 2: Sampling strategy is unclear and potentially biased (5 young adults, 6 parents). Recruitment procedures not described in detail. No justification of sample size.

Response 2: Thank you for highlighting this important point. We have revised the Methods section to provide a clearer description of our sampling strategy, recruitment procedures, and rationale for sample size. Recruitment was conducted via purposive sampling, targeting young people with 22q and their parents through relevant networks and organisations, ensuring diversity in age, gender and lived experience  of the young people. Our justification for sample size (five young adults and six parents), aligns with PAR principles and similar qualitative studies in rare disease contexts as PAR prioritises depth and co-production over breadth, and our iterative design allowed for rich, detailed narratives. The sample was sufficient to achieve thematic saturation Braun & Clarke (2006) Swain (2018) (lines 169-172). In line with this, in the limitation section, we acknowledge the possibility of self-selection bias, those who chose to participate may have had a particular interest in the topic or prior experience with 22q, which could influence the perspectives represented in the sample. Nonetheless, the co-production approach aimed to ensure that the voices of young people and parents were included to enhance the relevance and applicability of the findings (lines 778-781). Hopefully combined this strengthens the transparency and address potential bias.

Comment 3: Explain how participants shaped research questions and analysis.

Response 3: Thank you for this important point. We have expanded the Data Analysis sections to clarify how participants shaped the analysis (lines 226-229). The research question was shaped by the literature and the steering group (addressed below in response to comment 4 also). Participant narratives guided theme development. While a hybrid thematic approach provided a conceptual lens, themes were refined to capture nuances expressed by participants. Illustrative quotes were central to defining and naming themes, preserving authenticity and co-production ethos.

Comment 4: Role of the steering group needs clarification. How did co-development of questions shape validity? How were power dynamics managed?

Response 4: Thank you for this important point. We have expanded the Procedure section to clarify the role of the steering group, the impact of co-development on validity, and how power dynamics were managed (lines 179-190). The steering group (young adult–parent dyad and practitioner) co-developed the interview guide, influencing question wording, structure, and accessibility (e.g., visual prompts, simplified language). This participatory process enhanced content validity by ensuring questions reflected lived priorities rather than researcher assumptions. To mitigate power imbalances, steering group members were treated as equal partners, with opportunities to shape the questions. The meeting was facilitated using inclusive language and reflexivity was maintained throughout, with researcher carefully considering positionality and influence on interpretation.

Comment 5: Thematic analysis is mentioned but coding steps, reliability checks, and researcher reflexivity are absent.

Response 5: Thank you for highlighting this. We have expanded the Data Analysis section to provide explicit detail on coding procedures, reliability checks, and reflexivity (lines 226-229). We followed Braun & Clarke’s six-phase framework, adapted for a hybrid inductive–deductive approach. Each transcript was coded manually by two researchers using descriptive and in vivo codes. Codes were collated with illustrative excerpts. To ensure rigor, coding was conducted independently by two researchers and then compared. Discrepancies were discussed and resolved through consensus. A third researcher reviewed the final themes for coherence and alignment with the dataset. We have also added reflexivity statements through in both Procedure and Data Analysis sections. 

Comment 6: PAR description is too vague. PAR processes (cycles, co-analysis, participant involvement in interpretation) must be explained.

Response 6: Thank you for this important observation. Due to the nature of this study, it is imperative that this is explained in more detail.  We have expanded the Procedure (lines 179-199) and Data Analysis (lines 226-229)  sections further to clarify the PAR processes, including phases, flexibility and reflexivity. The study followed two iterative phases, phase 1 the co-developed research protocol and interview guide with the steering group  (young adult–parent dyad and practitioner), ensuring relevance and accessibility. Phase 2 (knowledge production) where the semi-structured interviews were conducted, and findings were iteratively discussed within the research team, informed by participant priorities. While formal coding was conducted by researchers, interpretation was informed by participant voices through use of in vivo codes and illustrative quotes to preserve authenticity and we ensured power dynamics were managed through equal decision-making in the steering group, and transparent communication.

Comment 7: No thick description or exemplar quotes seen in provided pages. Without quotes, credibility and confirmability cannot be assessed.

Response 7: Thank you for this comment. The full Results section does includes extensive exemplar quotes illustrating each theme and subtheme (e.g., “Most professionals don’t know what it is”  Parent of Sarah; “It was very dismissive to the point where it was like, hide the knives”  Parent of Cara). These quotes were selected to provide thick description, enabling readers to assess credibility and confirmability. However, as this was not as clear as could be, we have added a statement in the Methods (lines 238-240)  section clarifying that thick description and illustrative quotes were integral to the analytic process.

Comment 8: Describe coder training, interrater reliability checks, or reflexive notes.

Response 8: Thank you for highlighting this. We have expanded the Data Analysis section to include details on coder training, reliability checks, and reflexivity practices (lines 233-240). Prior to formal coding, the team conducted a calibration exercise on one transcript to align coding strategies and ensure consistency. Coding was conducted independently by two researchers for all transcripts. Discrepancies were discussed and resolved through consensus, and a third researcher reviewed the themes for coherence and alignment with the dataset. While formal kappa statistics were not calculated (consistent with qualitative paradigms), these steps ensured analytic rigor. Reflexivity was maintained.

Comment 9: Themes presented are coherent but lack depth and supporting quotes in the provided snippets..

Response 9: Thank you for this observation. The full Results section includes extensive exemplar quotes for each theme and subtheme, providing thick description and supporting credibility and confirmability. For example, under Theme 1: Awareness Gaps, we include quotes such as “Most professionals don’t know what it is” (Parent of Sarah) and “Unless you're walking in there with a disability that everyone can see… she looks alright” (Parent of Sarah). Similarly, under Theme 2: Fragmented Systems, quotes illustrate lived experiences of systemic gaps, e.g., “We just felt we were battling against the doctor” (Parent of Thomas) and “It was very dismissive to the point where it was like, hide the knives” (Parent of Cara). These quotes were selected to illustrate diversity of perspectives and maintain authenticity.

To address your concern (as with the one above), we have added a statement in the Methods section clarifying that thick description and exemplar quotes were integral to the analytic process (lines 238-240).

Comment 10: Some themes repeat content already established in past literature (e.g., fragmented pathways, parental burden), reducing perceived originality.

Response 10: Thank you for this observation. As mentioned in an earlier response, we acknowledge that some overarching themes (e.g., fragmented care pathways, advocacy burden) align with patterns reported in rare disease and neurodevelopmental disorder research. However we do believe that  our study extends this literature in several important ways such Strategic use of alternative diagnoses (e.g., autism) to access services, reflecting systemic gatekeeping; “Beyond the manual”: Mental health interventions described as rigid “tick-box” exercises, with examples of harm during crisis (e.g., dismissive advice like “hide the knives”); and Emotional deterioration linked to normative expectations of independence during transition. Also, unlike previous studies relying on retrospective parental accounts, our PAR framework actively involved families and young adults in shaping research questions and interpretation. This co-production revealed nuanced experiences and priorities that are underrepresented in existing UK literature.

Comment 11: Conclusions do not sufficiently address how findings answer the PAR research questions.

Response 11: Thank you for this key observation. We have revised the Conclusion to explicitly link findings back to the PAR research questions (lines 795-806). The updated text emphasises how the study addressed barriers and facilitators to health and mental health provision, and how co-production shaped actionable insights. We have also added a sentence at the end of each theme in the Results, directly linking back to the aim (in response to Reviewer 2)

Comment 12: Policy implications are broad rather than actionable.

Response 12: Thank you for this really helpful feedback. We have revised the Implications for Practice section quite significantly to include specific, more actionable recommendations informed by the findings and participatory approach (lines 742-759). These recommendations move beyond general statements to outline concrete steps for policy and service improvement.

Comment 13: No mention of limitations about lack of ethnic diversity, recall bias.

Response 13: Thank you for highlighting this. We have revised the Strengths, Limitations, and Future Directions section to explicitly acknowledge these limitations (lines 774-776) and explicitly added in Methods that participants were white British (line 169-170).

Comment 14: Inconsistent abbreviations (CAMHS versus CAHMS).

Response 14: Thank you for spotting this error, this has now been rectified

Comment 15: L786. GBT-4  = > should be GPT-4.

Response 15: Thank you for spotting this error, this has now been rectified

Overall comment: The topic is relevant, but the methodological justification, reporting, theoretical ground, writing quality require strengthening.

Response: Thank you for your thorough and constructive review. We appreciate the time and expertise you invested in providing detailed feedback. In response, we have substantially revised the manuscript to address all concerns raised. We have clarified originality and contribution by contrasting findings with the literature and highlighting novel subthemes and participatory insights. We have strengthened methodological transparency with detailed descriptions of sampling, recruitment, coding steps, reliability checks, reflexivity, and PAR processes. We have enhanced credibility through explicit mention of thick description, exemplar quotes, and trustworthiness strategies. Further, we have expanded limitations to include lack of ethnic diversity and potential recall bias, as well as refined implications to provide specific, actionable policy recommendations grounded in co-produced findings. Finally, we have revised conclusions to explicitly link findings back to the PAR research questions and participatory aims.

We believe these revisions significantly improve the clarity, rigor, and impact of the manuscript, and we thank you again for helping us strengthen its contribution to the field.

Reviewer 2 Report

Comments and Suggestions for Authors

Dear Authors, here are some concise critical points that I think should be addressed before publication:

1) The manuscript would benefit from a clearer articulation of methodological rigour, particularly regarding how participatory elements of the PAR framework shaped data collection, analysis, and theme development beyond co-design of the interview guide. Greater transparency would strengthen credibility, so I suggest the authors to improve this point.

2) The results section is rich but very lengthy and occasionally descriptive rather than analytic. Synthesising overlapping subthemes and tightening narrative repetition would improve clarity and ensure stronger alignment between evidence and interpretation. The authors should more explicitly distinguish illustrative narrative detail from the analytical contributions of each theme, streamline sections where quotes are over-extended, and clarify how each subtheme advances the central research question rather than restating similar experiences across participants.

3) The discussion would benefit from a more explicit integration with existing international literature, as well as a clearer delineation of what findings are genuinely novel within the UK context. More concrete, actionable implications for practice and policy would enhance impact.

4) Recent evidence from acute care settings suggests that fragmented care pathways are often a consequence of the limited integration between medical complexity and the broader spectrum of care needs that patients present across the trajectory of illness. Studies adopting standardized nursing data have shown that nursing care requirements can diverge substantially from what is predicted by medical diagnoses alone, highlighting how unrecognized care complexity may intensify coordination burden and undermine continuity across services (PMID: 39381892). These findings reinforce the present study’s conclusion that families frequently act as de facto care coordinators in the absence of systems able to capture and respond to multidimensional needs. Including this perspective could be of great interest for the readers.

5) Please adopt the MDPI reference style consistently throughout the manuscript. In addition, the reference list should be updated by incorporating more recent and relevant sources—particularly from the past 3–5 years—to strengthen the scientific grounding of the study and better reflect current evidence in the field.

Author Response

Comment 1: The manuscript would benefit from a clearer articulation of methodological rigour, particularly regarding how participatory elements of the PAR framework shaped data collection, analysis, and theme development beyond co-design of the interview guide. Greater transparency would strengthen credibility, so I suggest the authors to improve this point.

Response 1: We have expanded the Procedure (lines 180-190) and Data Analysis (lines 226-229 and lines 233-240)  sections further to clarify the PAR processes, including phases, flexibility and reflexivity. The study followed two iterative phases, phase 1 the co-developed research protocol and interview guide with the steering group  (young adult–parent dyad and practitioner), ensuring relevance and accessibility. Phase 2 (knowledge production) where the semi-structured interviews were conducted, and findings were iteratively discussed within the research team, informed by participant priorities. While formal coding was conducted by researchers, interpretation was informed by participant voices through use of in vivo codes and illustrative quotes to preserve authenticity and we ensured power dynamics were managed through equal decision-making in the steering group, and transparent communication.

Within this, we have also added (in response to reviewer 1) more detail on how participants shaped research questions and analysis by expanding the Data Analysis sections to clarify how participants shaped the analysis. We also elaborated on the role of the steering group (e.g. co-development of questions and power dynamics), by expanding the Procedure section to clarify the role of the steering group, the impact of co-development on validity, and how power dynamics were managed.

Comment 2: The results section is rich but very lengthy and occasionally descriptive rather than analytic. Synthesising overlapping subthemes and tightening narrative repetition would improve clarity and ensure stronger alignment between evidence and interpretation. The authors should more explicitly distinguish illustrative narrative detail from the analytical contributions of each theme, streamline sections where quotes are over-extended, and clarify how each subtheme advances the central research question rather than restating similar experiences across participants.

 

Response 2: Thank you for this constructive feedback. We have revised the Results section to improve clarity and analytic focus. We have synthesised some overlapping themes, reducing each superordinate theme to only two sub-themes. For example, we combined ‘Expertise ignored: Parents knowledge dismissed’ with ‘The emotional weight of advocacy of the families’ to create ‘Battling against the Doctor: Disconnected pathways and lack of holistic joined-up care’ (lines 326-327).
Throughout each theme, we have shortened extended quotations, reduced repetitive excerpts as well as description. Each theme now also ends in a clear analytic statement, linking back to the aim (lines 318-320; lines 404-406; lines 490-492; and 576-578).

Combined this now serve as more concise evidence rather than lengthy narrative blocks. We have been unable to highlight all changes as much was cutting description and quotes, but have highlighted the headings to show which were combined – in total we have cut ~800 words.

Comment 3: The discussion would benefit from a more explicit integration with existing international literature, as well as a clearer delineation of what findings are genuinely novel within the UK context. More concrete, actionable implications for practice and policy would enhance impact.

Response 3: We have now expanded the Discussion section to explicitly contrast our UK findings with similar studies in both 22q internationally (e.g., Goodwin et al., 2020; O’Donoghue et al., 2022), as well as other rare disease studies McMullan et al., (2020) and Walton et al., (2023). We have also expanded our Implication for Practice section quite significantly to include specific, more actionable recommendations informed by the findings and participatory approach (lines 742-759). These recommendations outline concrete and actionable steps for policy and service improvement.

Comment 4: Recent evidence from acute care settings suggests that fragmented care pathways are often a consequence of the limited integration between medical complexity and the broader spectrum of care needs that patients present across the trajectory of illness. Studies adopting standardized nursing data have shown that nursing care requirements can diverge substantially from what is predicted by medical diagnoses alone, highlighting how unrecognized care complexity may intensify coordination burden and undermine continuity across services (PMID: 39381892). These findings reinforce the present study’s conclusion that families frequently act as de facto care coordinators in the absence of systems able to capture and respond to multidimensional needs. Including this perspective could be of great interest for the readers.

Response 4: Thank you for these excellent suggestions. We have revised the Discussion section to include the findings if this relevant paper (lines 720-726).

Comment 5: Please adopt the MDPI reference style consistently throughout the manuscript. In addition, the reference list should be updated by incorporating more recent and relevant sources—particularly from the past 3–5 years—to strengthen the scientific grounding of the study and better reflect current evidence in the field.

Response 5: Thank you for this important point. All in-text citations and reference list entries have been reformatted to comply with MDPI guidelines.

 We had incorporated several recent and relevant sources published within the last 3–5 years to strengthen the scientific grounding of the study. These included (as examples):

• Ayoub et al. (2024): Scoping review on lived experiences of 22q11.2DS.
• Campbell et al. (2024): Systematic review of psychological interventions for 22q11.2DS.
• Gadancheva et al. (2023): Transition challenges in 22q11.2DS.
• MacIsaac et al. (2025): Updated transition protocols.

However, we have now also added additional UK-based studies on service navigation and advocacy burden, rare diseases, as well as the paper suggested by yourself on care complexity an burden.  These updated references have been integrated into the ‘Discussion’ (as above in comment 3 and 4) to ensure alignment with current evidence and to reinforce the novelty of our UK-specific.

• McMullan et al., (2020): Insight into current challenges, and some requested solutions, based on reported experiences from carers of people with a rare disease in the UK and Ireland.
• Walton et al., (2023): Limited care-coordination, specialist centres and care plans for families with rare conditions in the UK
• Cesare et al., (2025): Highlighting how unrecognised care complexity may intensify coordination burden and undermine continuity across services.

Overall response: Thank you for your thorough and constructive review. We appreciate the time and expertise you invested in providing detailed feedback. In response, we have substantially revised the manuscript to address all concerns raised. We have strengthened methodological transparency with detailed descriptions of sampling, recruitment, coding steps, reliability checks, reflexivity, and PAR processes. We have revised the Results section to improve clarity and analytic focus and shortened the use of descriptions an lengthy quotations. Further, we have added additional studies in the discussion to shape our findings in the context or rare disease and acute settings, and refined implications to provide specific, actionable policy recommendations grounded in co-produced findings. Finally, we have re-formatted all in-text citations and reference list entries to comply with MDPI guidelines, and ensured majority of the references are from the last 3-5 years.

We believe these revisions significantly improve the clarity, rigor, and impact of the manuscript, and we thank you again for helping us strengthen its contribution to the field.

Round 2

Reviewer 1 Report

Comments and Suggestions for Authors

The authors responded adequately to my comments. I have no further comments. 

Reviewer 2 Report

Comments and Suggestions for Authors

Congratulations to the authors for this effort. I think that now this paper meets the requirements for publication.