22q11 deletion syndrome – the meaning of a diagnosis. A qualitative study on parental perspectives

Hallberg, Ulrika; Óskarsdóttir, Sólveig; Klingberg, Gunilla

doi:10.1111/j.1365-2214.2010.01108.x

Cited by 33 publications

(38 citation statements)

References 23 publications

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“…It can be a shocking and stressful experience for parents to receive the news that their child has a multisystem genetic disorder (Hallberg et al 2010; Metcalfe et al 2011), and it can be similarly difficult for parents to decide if and what to tell the child about the diagnosis. Research suggests that children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability (Hughes et al 2002; Mcconkie-Rosell et al 2009; Metcalfe et al 2011; Tercyak et al 2002).…”

Section: Introductionmentioning

confidence: 99%

“…Anecdotally, many parents of children with 22q11DS report a traumatic experience around the time of diagnosis (e.g., Hallberg et al 2010) and this may in turn have an impact on if, how and when parents choose to divulge the diagnosis to the child (Forrest et al 2003). A diagnosis can provide relief and comfort for parents in terms of origin of symptoms, treatment and prognosis, despite the sorrow and grief about their child’s 22q11DS (Costain et al 2011; Hallberg et al 2010).…”

Section: Introductionmentioning

confidence: 99%

“…A diagnosis can provide relief and comfort for parents in terms of origin of symptoms, treatment and prognosis, despite the sorrow and grief about their child’s 22q11DS (Costain et al 2011; Hallberg et al 2010). Even though putting a name and/or origin to the symptoms can be a relief, the experience of receiving a diagnosis can be distressing.…”

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: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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“…18,19 It is relevant to note that psychiatric disorders are among the most profoundly stigmatized of all health conditions, and negative attitudes toward these conditions have been identified in many groups including the general public, [20][21][22][23] students, 24 police, 25 mental health workers, 26,27 and genetic counselors. 28,29 Medical geneticists' attitudes toward individuals with psychiatric disorders, and the relationships between these attitudes and clinical practice regarding disclosure of information about psychiatric risks, have not been previously studied.…”

mentioning

confidence: 99%

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

Morris

Inglis

Friedman

et al. 2013

Genetics in Medicine

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“…Its symptoms are complex and affecting multiple body systems, ranging from intellectual disability, psychiatric illness, cardiac abnormalities, immunodeficiencies to epilepsy (Bales, Zaleski, & McPherson, 2010a; Hallberg, Óskarsdóttir, & Klingberg, 2010). The challenges associated with these complex clinical presentations are likely to have a significant effect on the psychosocial well‐being of patients as well as their families.…”

Section: Introductionmentioning

confidence: 99%

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

McNeill

Vogt

2018

American J of Med Genetics Pt A

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The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body systems and is associated with multiple physical problems. Given the high rate of physical morbidity associated with the 22q11DS, it was hypothesized that it would exert a high psychosocial impact on patients and their relatives. To investigate this, a systematic review of the literature and narrative synthesis was performed. Three major themes emerged. First, the complex and conflicting emotions experienced by family members resulting from the diagnosis. Second, the pervasive educational and health‐care challenges associated with the diagnosis and third that people affect by 22q11DS strived for individualism. The results of this review help to inform clinical management of families with 22q11DS.

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22q11 deletion syndrome – the meaning of a diagnosis. A qualitative study on parental perspectives

Abstract: Our conclusions are that information must be individually tailored, and there is no standard format for how to describe the syndrome to the parents. After disclosure, scheduled appointments for follow-up on diagnosis-related information is essential.

Cited by 33 publications

References 23 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

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

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