Psychosocial Aspects of Newborn Screening Programs for Cystic Fibrosis

Duff, Alistair; Brownlee, K.

doi:10.1080/02739610701766867

Cited by 14 publications

(11 citation statements)

References 63 publications

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“…This Consensus reviewed common principles, results of relevant research [107] and review [108] and makes recommendations for communication that can be considered across many different types of screening protocols.…”

Section: Information To Familiesmentioning

confidence: 99%

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European best practice guidelines for cystic fibrosis neonatal screening

Castellani

Southern

Brownlee

et al. 2009

Journal of Cystic Fibrosis

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215

202

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There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut. All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS programmes. Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families.

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Section: Information To Familiesmentioning

confidence: 99%

“…Preparation for discussions with relatives has also to be considered. Reviews of the psychological impact of parents being told of their infant's carrier-status [108], suggest that:…”

Section: For Parents Of Carrier Infantsmentioning

confidence: 99%

European best practice guidelines for cystic fibrosis neonatal screening

Castellani

Southern

Brownlee

et al. 2009

Journal of Cystic Fibrosis

Self Cite

215

202

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“…Despite this risk of heightened distress in parents during the initial attachment period, there do not appear to be higher rates of maladaptive attachments between infants with CF and their parents, again highlighting the resiliency of families with CF(4, 10). However, when maladaptive attachment does occur, it has been found to have a negative impact on the health status of infants with CF.…”

Section: Peri-natalmentioning

confidence: 96%

“…In addition, parents’ distress was reported to be amplified when the medical team communicated the results of the screen in an impersonal fashion and before the infant was old enough to undergo sweat test (resulting in extending the waiting period)(8). Once a CF diagnosis is confirmed, parents typically continue to experience fluctuating states of psychological distress and normalcy as they take on the role of medical parent(4), and may be particularly vulnerable to depressive symptoms while their infants are still only a few months old. Glasscoe and colleagues(9) studied the mental health of parents of infants with CF and reported that both mothers and fathers of infants less than 9 months old had higher relative risk of scoring at or above the clinical cut-off for mild depression (on the Beck Depression Inventory) compared with parents of age-matched healthy controls (relative risk 2.6 and 2.26, for mothers and fathers respectively).…”

Section: Peri-natalmentioning

confidence: 99%

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Developmental and Psychosocial Issues in Cystic Fibrosis

Ernst

Johnson

Stark

2010

Child and Adolescent Psychiatric Clinics of North America

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SynopsisCystic Fibrosis (CF) is a multi-systemic life-limiting genetic disorder, primarily impacting respiratory functioning. Most patients with CF are diagnosed by 2 years of age, and the current median predicted survival rate is 37.4 years old, with 95% of patients dying from complications relate to pulmonary infection. Given the chronic, progressive and disabling nature of CF, multiple treatments are prescribed, most on a daily basis. Thus, this illness requires children, with the aid of their families, to adopt multiple health-related behaviors in addition to managing more typical developmental demands. The morbidity and mortality factors pose cognitive, emotional and behavioral challenges for many children with CF and their families. This article will apply a developmental perspective to describing the psychosocial factors impacting psychological adjustment and health-related behaviors relevant to infants, preschool and school age children, and adolescents with CF. Topics particularly pertinent to developmental periods and medical milestones will be noted, with clinical implications highlighted.

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