Audrey Tluczek

Psychosocial Risk Associated With Newborn Screening for Cystic Fibrosis: Parents’ Experience While Awaiting the Sweat-Test Appointment

Background. The psychosocial effects on parents of infants with abnormal results in cystic fibrosis (CF) newborn screening (NBS) that uses genetic testing remain unclear. Methods. Twenty-eight individuals representing 14 families participated in grounded theory interviews ∼6 months after their child’s positive NBS results for CF. Participants also completed the Center for Epidemiologic Studies Depression Scales (CES-D) at their infant’s sweat-test appointment (n = 51) and/or ∼6 months after the sweat test (n = 35). Results. Most parents experienced high levels of emotional distress during their wait for the sweat-test appointment (CES-D score, mean ± SD: 16.5 ± 6.7; 43.1% in the clinical range; median wait: 7 days; range: 3–35 days). CES-D scores of these parents were also significantly higher than those of comparison parents. Interviews showed that parental cognitive uncertainty and emotional distress were influenced by the parents’ prior knowledge of NBS, CF, and their carrier status; parents’ adjustment to their new baby; and the physicians’ approach to informing parents. Parents’ coping strategies involved requesting a sweat test as soon as possible, searching for information, assessing the infant’s risk/health, seeking support, praying, or not talking with others. Conclusions. The waiting period from notification regarding positive NBS results to diagnostic test results can be psychologically distressing to parents, causing depressive symptoms that vary depending on their perceptions about the likelihood that their infant has CF. Implications for future research examining psychosocial interventions for NBS are discussed.

Parents' Knowledge of Neonatal Screening and Response to False-positive Cystic Fibrosis Testing

Neonatal screening for cystic fibrosis (CF) has become feasible through analyzing dried blood specimens for immunoreactive trypsinogen (IRT), but the benefits and risks of such a screening program remain to be delineated. This study, a survey of the parents of 104 Wisconsin infants with false-positive IRT tests, showed parents had knowledge deficits about neonatal screening in general, misconceptions about test results, and high levels of anxiety. Parenting behaviors were reportedly unchanged during the usual 3-day waiting period between the news of the abnormal screeing test and the diagnostic sweat test. Most, but not all, parents were relieved by negative sweat test results subsequent to the abnormal IRT test. Factors associated with continued parental concern included having less than a high school education and/or having an infant with low Apgar scores. Additionally, those contacted by telephone were more likely to have misinformation and lingering concerns about the presence of CF in their child. J Dev Behav Pediatr 13:181–186, 1992. Index terms: cystic fibrosis, neonatal screening, trypsinogen, anxiety.

Support for the Reliability and Validity of a Six-Item State Anxiety Scale Derived From the State-Trait Anxiety Inventory

Identifying the most efficient and theoretically appropriate methods to assess patient anxiety in fast-paced medical environments may be beneficial for clinical purposes as well as for research. The purpose of this study was to examine the reliability and validity of two previously published six-item versions of the State form of the State-Trait Anxiety Inventory (STAI) and to identify the version that would be most appropriate to use with a sample of parents who had infants with normal or abnormal newborn screens. In the current study, confirmatory factor analyses were conducted to evaluate the fit of the two six-item forms with STAI data collected at three time points from 288 parents of 150 infants. Study groups of parents were based upon infant newborn screens and subsequent diagnostic testing to include cystic fibrosis (CF; n = 26), congenital hypothyroidism (CH; n = 39), CF Carriers (CF–C; n = 45), and healthy infants (H; n = 40). The results showed the version containing items 1, 3, 6, 15, 16, and 17 of the State form of the STAI to be a better fitting model across all three time points, and it had better internal consistency than the version containing items 5, 9, 10, 12, 17, and 20. Both short forms were highly correlated with the 20-item STAI score, and all internal consistency reliabilities were greater than .90. It was concluded that the version containing items 1, 3, 6, 15, 16, and 17 of the State Anxiety scale was a reliable and valid instrument for this study sample.

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infants sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.

Psychosocial Consequences of False-Positive Newborn Screens for Cystic Fibrosis:

This study was designed to develop a framework for understanding parents’ perspectives about the psychosocial consequences of false-positive newborn screening (NBS) results for cystic fibrosis (CF). Through content analysis of interviews with 87 parents of 44 infants, we found that receipt of genetic information through NBS affected parents on intrapersonal and interpersonal levels within a relational family system. Repercussions included wondering about test accuracy, the child’s health, and the future; gaining new perspectives and strengthening relationships; questioning paternity; wondering if other relatives had CF/were carriers; searching for the genetic source; sharing genetic information; supporting NBS; and feeling empathy for parents of affected children. We concluded that abnormal NBS results that involve genetic testing can have psychosocial consequences that affect entire families. These findings merit additional investigation of long-term psychosocial sequelae for false-positive results, interventions to reduce adverse iatrogenic outcomes, and the relevance of the relational family system framework to other genetic testing.

When the Cystic Fibrosis Label Does Not Fit: A Modified Uncertainty Theory:

In this grounded, dimensional analysis we describe the experiences of five couples whose infants had equivocal diagnostic test results following positive genetic newborn screens for cystic fibrosis. We analyzed interview data collected at two points during each infant’s first year. Uncertainty emerged as the central thematic dimension. Results showed that parents passed through a series of stages similar to the process described in Mishel’s Uncertainty in Illness Theory (UIT), thus extending the application of the theory to circumstances in which the very presence of an illness is uncertain. Findings informed a modified version of the UIT comprised of five domains: stimuli frame, degree of uncertainty, opportunity— danger continuum, affective responses, and coping. This model incorporates Morse’s conception of suffering. Three contextual domains influenced parents’ experiences at various junctures along the uncertainty trajectory: individual characteristics, structure providers, and time. We discuss implications of the model for future research and clinical practice relative to genetic testing.

A mother–infant therapy group model for postpartum depression

This pilot study examined the feasibility and efficacy of a manualized, 12-week mother-infant therapy group (M-ITG) model for women with moderate to severe depressive symptoms during the postpartum period. Study participants were referred to the psychiatric clinic of a university medical center for assessment and treatment for postpartum depression. Results of pre- and post comparisons utilizing self-report and observational measures showed that women in the M-ITG groups (n = 18) reported significantly fewer depressive symptoms and experienced their infants as more reinforcing following 12 weeks of treatment than did the depressed women in the waitlist control group (WLCG) (n = 14). Mothers in the M-ITG group also were rated as exhibiting significantly more positive affective involvement and communication in interactions with their infants following treatment than did mothers in the WLCG. The M-ITG model is described, and the implications of utilizing a mother-infant treatment approach for postpartum depression that focuses on the relationships as well as the mothers depressive symptoms is discussed. The importance of further examining the efficacy of the M-ITG model for women with postpartum depression and their families in a large-scale, randomized clinical trial is underscored.

Informing Parents about Positive Newborn Screen Results: Parents’ Recommendations

This descriptive study examined parents’ reactions to newborn screening (NBS) results and their recommendations for improving communication. Dimensional and content analyses were conducted on interviews with 203 parents of 106 infants having positive NBS results. Diagnostic results confirmed infants as having congenital hypothyroidism (n = 37), cystic fibrosis (n = 26), or being cystic fibrosis (CF)-carriers (n = 43). Parents’ reactions ranged from ‘very scary’ to ‘not too concerned’. Most reported feeling shock, panic, and worry; some reported guilt. Parents in the CF and CF-carrier groups preferred face-to-face disclosure as the communication channel; whereas congenital hypothyroidism group parents supported telephone contacts. Parents recommended providers be well informed, honest, and calm; personalize disclosure, avoid jargon, listen carefully, encourage questions, recognize parental distress, offer realistic reassurance, pace amount and rate of information, assess parents’ understanding, and refer to specialists. We conclude that provider–patient communication approach and channel can exacerbate or alleviate parents’ negative reactions to positive NBS results.

Relationships Among Health-Related Quality of Life, Pulmonary Health, and Newborn Screening for Cystic Fibrosis

BACKGROUND The objective of this study was to examine relationships between pulmonary health and health-related quality of life (HRQOL) in patients with cystic fibrosis (CF) evaluated longitudinally in the Wisconsin Newborn Screening Project. METHODS Patients aged 8 to 18 years (mean ± SD, 13.5 ± 2.8) in early diagnosis (n = 45) and control (n = 50) groups completed Cystic Fibrosis Questionnaires (CFQs) to measure HRQOL at three data points over a 2-year period. Pulmonary health was evaluated concurrently by the Wisconsin chest x-ray scoring system (WCXR) and pulmonary function tests (PFTs). RESULTS WCXR showed significant group differences (P ≤ .023), with the early diagnosis group showing more-severe lung disease. When adjusted for group differences in mucoid Pseudomonas aeruginosa status and pancreatic status, however, WCXR differences and PFT data were not significant. Most patients (74%) had FEV(1) values ≥ 80% predicted (within normal range). For patients aged < 14 years, as WCXR scores worsened CFQ respiratory and physical domain scores decreased (both P ≤ .007). FEV(1)/FVC showed a positive relationship with the respiratory and physical domains (both P ≤ .006). WCXR scores for patients aged ≥ 14 years were associated with CFQ weight, respiratory, and health domains (all P ≤ .011). FEV(1) was associated with CFQ weight, respiratory, health, and physical domains (all P ≤ .003). Changes in pulmonary health were not associated with changes in CFQ over time. Significant group differences on the CFQ-Child social functioning domain favored the control group. CONCLUSIONS To our knowledge, this study is the first to compare pulmonary outcomes with HRQOL indicators assessed by serial, standardized, patient-reported outcome measures for patients with CF identified either through newborn screening or diagnosed by use of traditional methods. This study found no benefits of newborn screening for pulmonary health or HRQOL after controlling for risk factors. Using WCXR and PFT data collectively helped to identify associations between pulmonary health and HRQOL.

A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.