Assessment of Parental Disclosure of a 22q11.2 Deletion Syndrome Diagnosis and Implications for Clinicians

Faux, Dana; Schoch, Kelly; Eubanks, Sonja; Hooper, Stephen R.; Shashi, Vandana

doi:10.1007/s10897-012-9535-5

Cited by 11 publications

(16 citation statements)

References 41 publications

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“…Indeed, qualitative accounts have shown that non-disclosure creates secrecy that negatively impacts family cohesion, causing children to feel stressed, frustrated, resentful, and anxious (Claflin & Barbarin 1991; Metcalfe et al 2008; Plumridge et al 2011). A positive disclosure experience for children occurs when children are informed about their diagnosis in a timely manner, taking cognitive development into account, with the opportunity for continued discussion (Faux et al 2012; Metcalfe et al 2011; Plumridge et al 2011). …”

Section: Discussionmentioning

confidence: 99%

“…Although the communication experiences around the disorder potentially have a large impact on family functioning (Rolland, 1994), there is little research into the communication of genetic conditions, both from professionals to parents (“diagnosis”), and from parent to child (“disclosure”). The absence of advice regarding disclosure is particularly problematic when intellectual functioning is affected, as different approaches may be needed for parents to effectively communicate the diagnostic information to their children (Faux et al 2012). …”

Section: Introductionmentioning

confidence: 99%

“…Other features of the disorder can include increased risk of infection (Jawad et al 2001), neonatal hypocalcaemia (Kitsiou-Tzeli et al 2005), and recurrent otitis media (Dyce et al 2002). People with 22q11DS often have a borderline intellectual functioning or mild to moderate intellectual disabilities; however the majority have the intellectual capacity to understand the implications of their genetic condition (Faux et al 2012). Despite 22q11DS being one of the more common genetic developmental disorders, the diagnosis is often delayed until later childhood or adulthood as the level of awareness of the syndrome is low amongst professionals.…”

Section: Introductionmentioning

confidence: 99%

“…From research pertaining to various genetic conditions, it appears that full disclosure is typically associated with more adaptive parental coping skills including an open communication style and a focus on problem-solving (Metcalfe et al 2011; Tercyak et al 2001). Non-disclosure can occur in 22q11DS because parents feel unclear on how and what to tell their child (Faux et al 2012). Hence, parents have identified the need for professional advice regarding developmentally appropriate methods of disclosing (Faux et al 2012; Metcalfe et al 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Non-disclosure can occur in 22q11DS because parents feel unclear on how and what to tell their child (Faux et al 2012). Hence, parents have identified the need for professional advice regarding developmentally appropriate methods of disclosing (Faux et al 2012; Metcalfe et al 2011). Although advice from professionals may help parents cope emotionally (Metcalfe et al 2008), Gallo et al (2005) reported that 80% of parents to children with various disorders received no professional advice regarding the method of disclosure.…”

Section: Introductionmentioning

confidence: 99%

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A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders

Goodwin

Schoch

Shashi

et al. 2014

J intellect Disabil Res

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Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with intellectual disabilities; with a child affected by 22q11.2 deletion syndrome (22q11DS) compared to a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g., Fragile X syndrome) and a group where diagnosis generally occurs early (i.e., Down syndrome). Method The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, child’s disclosure experience, and parental coping and self-efficacy. Results Across all groups parents reported that the diagnosis experience was negative and often accompanied by lack of support and appropriate information. Sixty-eight percent of those in the 22q11DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six percent of the Down syndrome group felt they had sufficient information to talk to their child compared to 44.1% of the Similar Conditions group and 32.6% of the 22q11DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the child’s age when disclosing. In the 22q11DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience. Conclusions As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicates that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders

Goodwin

Schoch

Shashi

et al. 2014

J intellect Disabil Res

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The motivations and methods behind sharing a pediatric Prader–Willi syndrome diagnosis

Moy,

Denton,

Bohonowych

et al. 2024

American J of Med Genetics Pt A

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Prader–Willi syndrome (PWS) is a genetic condition caused by a lack of paternally‐expressed imprinted genes at chromosome 15q11.2‐q13 and characterized by hyperphagia, behavioral challenges, and variable intellectual disability. Once a PWS diagnosis is established, sharing diagnosis information with an affected child can be challenging due to its early age of onset and diverse phenotype. This mixed‐methods study aimed to evaluate how parents and guardians have shared a PWS diagnosis with their child and examine the motivating and influencing factors behind their disclosure. Parents and guardians of children with PWS aged at least 5 years completed a survey, and a select group completed an interview. A total of 51 surveys and 15 interviews were completed, with the majority of participants (n = 46; 90%) having shared at least some diagnosis information with their child. Parents and guardians were more likely to disclose if they self‐reported a higher level of knowledge about PWS (p = 0.004) and if their child is currently older (p = 0.02) and/or has at least one sibling (p = 0.046). Interview analysis revealed 15 themes and 10 subthemes that illustrated parents' motivations, methods, and experiences with disclosure. This research provides information for others considering disclosure of PWS or another rare diagnosis with their child.

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Parents’ perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS)

2021

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Assessment of Parental Disclosure of a 22q11.2 Deletion Syndrome Diagnosis and Implications for Clinicians

Cited by 11 publications

References 41 publications

A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders

A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders

The motivations and methods behind sharing a pediatric Prader–Willi syndrome diagnosis

Parents’ perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS)

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