Psychosocial needs and interventions for young children with cystic fibrosis and their families.

This review summarises the experiences of young children and their families living with CF during the first five years of life following NBS diagnosis, as well as the options of psychosocial support available to them. We present strategies embedded within routine CF care that focus on prevention, screening, and intervention for psychosocial health and wellbeing that constitute essential components of multidisciplinary care in infancy and early childhood.

[Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.] / Impacto de la inclusión de pruebas de segundo nivel en el programa de cribado neonatal de Cataluña y en otros programas internacionales.

OBJECTIVE: Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families. In order to avoid this problem several programmes have developed second-tier tests (2TT). METHODS: This article presents our experience in the implementation of 2TT in the NBSP of Catalonia, as well as in other international programmes. RESULTS: From 2004 to the present, 2TT tests have been developed for more than 30 diseases. The use of 2TT helps to decrease the FP rate and increase the positive predictive value (PPV). In the NBSP of Catalonia, the implementation of 2TT for the detection of methylmalonic and propionic acidemias, homocystinurias, maple syrup disease and citrulinaemia, has managed to increase the PPV to 95% and decrease the PF rate to less than 0.01%. In cystic fibrosis, the application of 2TT slightly increases PPV but with a significant decrease in the request for second samples and in the number of cases referred to clinical units. CONCLUSIONS: The introduction of 2TT in the NBSP allows to reduce considerably the FP, decreases the number of requested samples, as well as both anxiety and stress of the families, at the same time that the hospital costs are reduced and the PPV is increased, improving notably the efficiency of the NBSP.

OBJETIVO: Los programas de cribado neonatal (PCN) han experimentado un gran avance cualitativo debido a la implementación de la espectrometría de masas en tándem. Sin embargo, las pruebas utilizadas dan lugar a falsos positivos (FP) generando una excesiva solicitud de segundas muestras con la consiguiente ansiedad de las familias. Con el fin de evitar este problema diversos programas han desarrollado pruebas de segundo nivel (2TT). METODOS: En este artículo se presenta nuestra experiencia en la implementación de 2TT en el PCN de Cataluña, así como en otros programas internacionales. RESULTADOS: Desde el año 2004 hasta la actualidad se han desarrollado pruebas de 2TT para más de 30 enfermedades. La utilización de 2TT ayuda a disminuir la tasa de FP y aumentar el valor predictivo positivo (VPP). En el PCN de Cataluña, la implementación de 2TT para la detección de acidemias metilmalónicas y propiónica, homocistinurias, jarabe de arce y citrulinemia, ha conseguido aumentar el VPP a un 95% y disminuir la tasa de FP a menos del 0,01%. En la fibrosis quística la aplicación de 2TT aumenta ligeramente el VPP pero con disminución significativa de la solicitud de segundas muestras y de los casos referidos a las unidades clínicas. CONCLUSIONES: La introducción de los 2TT en los PCN permite reducir considerablemente los FP, disminuye el número de muestras solicitadas, así como la ansiedad y el estrés de las familias, a la vez que se reducen los costes hospitalarios y se aumenta el VPP, mejorando notablemente la eficiencia de los PCN.

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

OBJECTIVES: To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening. STUDY DESIGN: Participants were parents of infants aged 2-5 months. Parental perceptions of child vulnerability were assessed with an adapted version of the Vulnerable Baby Scale. The scale was included in the script for a larger study of telephone follow-up for 2 newborn blood screening samples (carrier status for cystic fibrosis or sickle cell hemoglobinopathy). A comparison sample was added using a paper survey with well-baby visits to an urban/suburban clinic. RESULTS: Sample sizes consisted of 288 parents in the cystic fibrosis group, 426 in the sickle cell hemoglobinopathy group, and 79 in the clinic comparison group. Parental perceptions of child vulnerability were higher in the sickle cell group than cystic fibrosis group (P < .0001), and both were higher than the clinic comparison group (P < .0001). Parental perceptions of child vulnerability were inversely correlated with parental age (P < .002) and lower health literacy (P < .015, sickle cell hemoglobinopathy group only). CONCLUSIONS: Increased parental perceptions of child vulnerability seem to be a bona fide complication of incidental newborn blood screening findings, and healthcare professionals should be alert to the possibility. From a public health perspective, we recommend routine follow-up after incidental findings to mitigate psychosocial harm.

Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.

The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of both healthy newborns and newborns who are sick. Infants were randomly assigned to receive standard of care or standard of care plus sequencing. The protocol and consent specified that only childhood-onset conditions would be returned. When 1 child was found to carry a BRCA2 mutation despite a negative family history, the research team experienced moral distress about nondisclosure and sought institutional review board permission to disclose. The protocol was then modified to require participants to agree to receive results for adult-onset-only conditions as a precondition to study enrollment. The BabySeq team asserted that their new protocol was in the child's best interest because having one's parents alive and well provides both an individual child benefit and a "family benefit." We begin with a short description of BabySeq and the controversy regarding predictive genetic testing of children for adult-onset conditions. We then examine the ethical problems with (1) the revised BabySeq protocol and (2) the concept of family benefit as a justification for the return of adult-onset-only conditions. We reject family benefit as a moral reason to expand genomic sequencing of children beyond conditions that present in childhood. We also argue that researchers should design their pediatric studies to avoid, when possible, identifying adult-onset-only genetic variants and that parents should not be offered the return of this information if discovered unless relevant for the child's current or imminent health.

Parents' experience with positive newborn screening results for cystic fibrosis.

In Germany, screening for cystic fibrosis (CF) is part of the newborn screening since September 2016. The risk of psychological harm due to false-positive screening results is a longstanding concern. We investigated the parents' perception of the CF screening process in Bavaria and the communication after positive screening results with a questionnaire. Until August 2018, 192 children went through a final diagnostic testing after a positive CF screening result, and 105 (54.7%) families completed the questionnaire. Of these, only 30 parents obtained information about the newborn screening by a physician, despite this being mandatory in Germany. Parents being informed by a CF specialist (28.6%) about the positive screening result were more satisfied with the given information (80.0 versus 50% informed by the maternity ward), and the delay until the final diagnostic testing was shorter. More than 3 days between the information about the screening result and the diagnostic testing was too long for 77.7% of the families.Conclusion: Performing final diagnostic testing with only short delays and receiving satisfactory information is important. Therefore, parents should be informed directly by a CF center about positive screening results and only when sweat testing is possible within the next days. What is Known: • The risk of psychological harm due to false-positive screening results is a longstanding concern. • Satisfactory information about the positive CF screening result seem to reduce the parental stress. What is New: • Parents being informed directly by a CF specialist were more satisfied with the given information and the delay until the final diagnostic testing was shorter. • Our data support the concept that parents should better be informed directly by a CF specialist about positive screening results and only when sweat testing is possible within the next days to reduce parental stress.

Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene.

Significant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Seven potential causes of psychosocial adversity arising from false positive newborn screening for CF have been identified. The current study aimed to increase parents understanding of CF, reduce their levels of stress, and investigate psychosocial adversity arising from false-positive screening. This national study was run over one year in the Republic of Ireland. Parents were recruited for the study following a diagnostic sweat test confirming their child carried a single altered CF gene. Parents were randomly assigned into a control and intervention group, with those in the intervention group receiving a carefully designed information pack. All parents took part in semi-structured interviews. Parents (n = 16) who received an information pack had significantly higher CF knowledge scores than parents (n = 16) in the control group. 66% of parents in the control group misunderstood the health implications of carrying an altered CF gene, no parents in the intervention group had the same misunderstanding. There was no significant difference in stress scores between the groups. Parents of infants who had more than one sweat test due to insufficient sweat quantity had higher overall stress percentiles (50%), than parents of infants who had one sweat test (30%), indicating greater parental stress. The combination of written and audio-visual information contained in the information pack successfully increased parents comprehension of CF. The study also evaluates the potential for psychosocial adversity following false positive newborn screening for CF.

Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.

[Newborn Hearing Screening - Results of a Parental Survey in Saxony-Anhalt]. / Neugeborenen-Hörscreening ­ Ergebnisse einer Elternbefragung in Sachsen-Anhalt.

Background: In recent years quality assurance has become an essential part of today's health-care system in the wake of the modern patient-oriented quality management. With the statutory introduction of newborn hearing screening (NHS) in 2009, a quality assurance of these early detection methods has become necessary. The aim of the study was to determine patient satisfaction in relation to the NHS in Saxony-Anhalt. Patients/Methods: During the period from November 2013 to April 2014, 394 parents were retrospectively interviewed about their experiences and expectations in relation to the NHS, using a standardised questionnaire. In total, 21 child care centres and 6 paediatric primary care centres from all over Saxony-Anhalt were involved. Results: It turns out that the majority of parents are satisfied with the NHS and 97.7% are in favour of the offer of an NHS. Of the surveyed parents, 69.3% felt the information as sufficient. However, only 66.2% of parents took a closer look at the leaflet issued by the G-BA. In addition, 17.7% of respondents are dissatisfied with the professional competence of the examining staff. Conclusion: The study shows that the general attitude among parents towards newborn hearing screening was very positive. They felt reassured by it although there are some aspects still open to criticism.

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2. RESULTS: The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways. CONCLUSION: Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.

Sickle cell and cystic fibrosis carrier results.

Background Newborn screening (NBS) is used to identify pre-symptomatic babies who carry, or are affected by, genetic or congenital conditions ( UK Newborn Screening Programme Centre 2012 ). In England, parents are required to provide informed consent before their babies are screened.

Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.

Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families. In this study, 47 individuals with Fabry disease (FD), 22 with Gaucher disease (GD), and 22 with late-onset Pompe disease (LOPD) were surveyed regarding how their life might have been impacted by NBS. Of the 91 participants, none had symptoms at birth and 42 (46.7%) were symptom-free until adulthood. Over half (52.8%) were diagnosed ≥5years from symptom onset; of these, significantly more had FD (60%) or LOPD (63.6%) than GD (23.8%). However, length of diagnostic odyssey was not significantly correlated with opinion on NBS. Most participants either strongly agreed (45%) or agreed (33.3%) with NBS for their condition, with no significant differences between diseases. Opinions on NBS were correlated with participants' opinions on whether NBS would have resulted in better current health, but uncorrelated with disease severity or current life satisfaction. Significantly more participants with FD (42.6%) and LOPD (63.6%) than GD (13.6%) felt they would have greater life satisfaction had they been diagnosed as a newborn (p=0.007). Almost half (41%) of participants would have made different life decisions, including lifestyle, financial, and reproductive decisions. Regarding potential harm, participants were most concerned about insurability and least concerned about removal of children's autonomy. In conclusion, NBS is highly approved of among individuals with LSDs themselves, as it would significantly eliminate diagnostic odysseys and potentially alter life planning.

Newborn screening for cystic fibrosis - The parent perspective.

BACKGROUND: Newborn screening for CF started 01/2011 in Switzerland. We investigated the parents' opinions about the information received, their feelings, and overall approval of the screening. METHODS: This is a prospective questionnaire survey of all parents of positively screened children. Parents were phoned by CF-centres and invited for diagnostic investigations. They completed a questionnaire after the visit to the CF-centre. RESULTS: From 2011-2013, 246 families received the questionnaire and 138 (56%) replied. Of these 77 (60%) found the information received at birth satisfactory; 124 (91%) found the information provided in the CF-centre satisfactory. Most parents (n=98, 78%) felt troubled or anxious when the CF-centre called, 51 (38%) remained anxious after the visit. Most parents (n=122; 88%) were satisfied with the screening, 4 (3%) were not, and 12 (9%) were unsure. CONCLUSIONS: The smooth organisation of the screening process, with personal information by a CF specialist and short delays between this information and the final diagnostic testing, might have contributed to reduce anxiety among parents. Most families were grateful that their child had been screened, and are happy with the process.

Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.

UNLABELLED: To evaluate the attitude of parents of Klinefelter syndrome (KS) boys and pediatricians with regard to early detection of KS and fertility preservation, a specific questionnaire investigating the acceptability towards neonatal screening for KS and the use of testicular biopsy and sperm collection was designed. The responses of 49 pediatricians and 18 parents were evaluated. All parents and 67% of the pediatricians consider neonatal screening for KS to be a good option. A total of 83.3% of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2% are in favor of banking spermatozoa after masturbation while 77.7% agree on spermatozoa banking after penile vibro-stimulation or rectal electro-stimulation under general anesthesia. Sixty-nine percent of pediatricians would counsel parents and KS adolescents in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2% agrees on testicular biopsy to detect spermatozoa or eventually spermatogonial stem cells (SSCs) for cryopreservation in minor KS patients. CONCLUSION: The majority of KS parents and pediatricians, completing a specific designed questionnaire on fertility preservation modalities, were in favor of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.

Newborn bloodspot screening for cystic fibrosis: What do antenatal and postnatal women know about cystic fibrosis?

BACKGROUND: The Republic of Ireland has one of the highest reported incidences of cystic fibrosis (CF) in the world (1/1353) with an estimated carrier rate of 1/20. No cure exists, however there have been significant advances in available treatments. Newborn bloodspot screening (NBS) for CF was added to the NBS programme in Ireland in July 2011. Little is known about antenatal or postnatal women's knowledge about CF. METHODS: This was a cross-sectional study of 662 antenatal (≥36weeks gestation) and 480 postnatal women (post NBS). Women were asked to self-complete a questionnaire including 14 CF knowledge questions. RESULTS: Among the respondents significantly more postnatal than antenatal women were aware that CF is included on the NBS (81.8% vs 63.5%; p<0.001). 92.7% believe that there are health consequences to being a carrier and 33.6% believe there is a cure for CF. In the multivariate analysis, lower educational status (OR 2.13; 95% CI 1.31, 3.46) being an antenatal mother (OR 1.51; 95% CI 1.04, 2.18), having no family history of CF (OR 5.82; 95% CI 1.62, 20.90) were associated with poor CF knowledge, while increasing age was found to be protective against poor CF knowledge (OR 0.96; 95% CI 0.92, 0.99). CONCLUSIONS: Results from this study provide a useful insight into women's preexisting knowledge about CF, which could be used to inform initial discussions with parents about their child's diagnosis.

Assessment of Parental Understanding of Positive Newborn Screening Results and Carrier Status for Cystic Fibrosis with the use of a Short Educational Video.

Many children are identified as unaffected carriers for cystic fibrosis (CF) through newborn screening (NBS) programs. The aim of this study was to improve parental understanding of positive NBS results using an educational video in addition to genetic counseling. One hundred parents of infants identified as CF carriers through NBS were randomly assigned by household to either a genetic counseling only group or a genetic counseling and video group. All participants completed a knowledge-based questionnaire before, immediately after, and six weeks following genetic counseling. This included questions about resources accessed before and after the appointment. Seventy-two percent of participants accessed resources on their own prior to genetic counseling; these participants scored significantly higher on the pre-counseling questionnaire (p = 0.03). Post-counseling knowledge scores for both groups significantly improved after genetic counseling (p < 0.001). Post-counseling scores were significantly higher in the video group compared to the non-video group (p = 0.02). Knowledge was retained six weeks following genetic counseling. This study demonstrates the effectiveness of an educational video and reinforces the importance of genetic counseling following positive NBS results for CF.

Primary care providers' experiences notifying parents of cystic fibrosis newborn screening results.

This study examines primary care provider (PCP) experiences with the initial parental disclosure of cystic fibrosis (CF) newborn screening (NBS) results in order to identify methods to improve parent-provider communication during the CF NBS process. PCPs of infants who received positive CF NBS results participated in semistructured phone interviews. Interviews were analyzed using a qualitative content analysis. PCPs acknowledged the difficulty of "breaking bad news" to parents, and emphasized minimizing parental anxiety and maximizing parental understanding. PCPs used a variety of methods to notify parents, and shared varying information about the significance of the results. Variation in the method of parental notification, information discussed, and attention to parents' emotional needs may limit successful follow-up of children with positive CF NBS results. A multifaceted intervention to improve PCP knowledge, management, and communication could improve provider confidence, optimize information transfer, and minimize parental distress during the initial disclosure of CF NBS results.

Attitudes of parents of children with serious health conditions regarding residual bloodspot use.

BACKGROUND/OBJECTIVES: Studies have shown that the general public is supportive of newborn screening (NBS) and supportive of the storage and use of residual bloodspots for quality assurance and biomedical research. However, the attitudes of parents of children with serious health conditions have not been assessed. In this study, we assessed attitudes of parents with children who have phenylketonuria (PKU) and leukemia towards NBS and storage and use of residual bloodspots for research. METHODS: A total of 49 individuals were recruited and responded to a validated 41-item survey regarding NBS and the retention and use of residual bloodspots. Of these participants, 22 had a child with PKU and 27 had a child with leukemia. We compared their responses to those of 1,927 individuals from the general public obtained in a previous study using the same survey instrument. RESULTS/CONCLUSIONS: We found that parents of children with a serious health condition had higher levels of support than the general public towards the use of residual NBS samples for research but similar attitudes regarding choice and privacy protections. It is important to assess the attitudes of various stakeholders for policy development.

The role of religious values in decisions about genetics and the public's health.

The latest health care legislation, which promotes prevention and health screening, ultimately depends for its success on recognition of people's values concerning the technologies being employed, not just the interventions' technical virtues. Values concerning the deterministic nature of a condition and what groups should be targeted rest on a sense of what is morally, often religiously right in a given health circumstance. This paper looks at a number of leading-edge case examples--breast cancer genetic screening and family decision-making, and newborn screening and biobanks--in examining how the choices made at the individual, family, and societal levels rest on faith in a higher source of efficacy and moral perspectives on the measures that can be taken. Qualitative responses expressing people's attitudes toward these technologies underscore the importance of considering faith-based values in individual decisions and collective policies on their use. These examples are considered in the context of the historic interplay between science and religion and recent definitions and models of health which incorporate physical, emotional, and social elements, and most importantly, are expanding to incorporate the religious and spiritual values domains.

Long-term follow-up of cystic fibrosis newborn screening: psychosocial functioning of adolescents and young adults.

BACKGROUND: Long-term psychosocial outcomes of cystic fibrosis (CF) patients diagnosed through newborn screening remain unknown. METHODS: This cross-sectional study compared three groups of youths (16 to 22 years): CF patients diagnosed through NBS (CF-NBS, n = 13), CF patients diagnosed through standard practice (CF-SP, n = 26) and healthy peers (H, n = 42), plus 72 of their parents. We hypothesized that adolescent psychological functioning would be mediated by parent depression and quality of parent-child communication and cohesiveness. RESULTS: A path analysis showed significantly more depression among CF-NBS group parents (p = .006-.008). Parent-child cohesiveness was related to communication (p < .001). Cohesiveness and communication were associated with youth Internalizing Problems (p = .037, p = .009), Emotional Symptoms (p = 0.018, p = 0.022), and Personal Adjustment (communication only, p = 0.009). Parent depression was related to youth Personal Adjustment (p = 0.022). CONCLUSIONS: CF patients report psychosocial function similar to healthy peers. Parents of children diagnosed with CF through NBS may be at risk for depressive symptoms when their children reach adolescence.

Appropriateness of newborn screening for α1-antitrypsin deficiency.

OBJECTIVE: The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS: A review of natural history and technical data was conducted. RESULTS: Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT deficiency can cause chronic liver disease, cirrhosis, and liver failure in children and adults, and lung disease in adults. The clinical course is highly variable. Some neonates present with cholestatic hepatitis and some children require liver transplantation, but many patients remain well into adulthood. Some adults develop emphysema. There is no treatment for AAT liver disease, other than supportive care and liver transplant. There are no data on the effect of early diagnosis on liver disease. Avoidance of smoking is of proven benefit to reduce future lung disease, as is protein replacement therapy. Justifying newborn screening with the aim of reducing smoking and reducing adult lung disease-years in the future would be a significant paradigm shift for the screening field. Recent passage of the Genetic Information Nondiscrimination Act (GINA) and the Affordable Care Act may have a major effect on reducing the psychosocial and financial risks of newborn screening because many asymptomatic children would be identified. Data on the risk-benefit ratio of screening in the new legal climate are lacking. CONCLUSIONS: Workshop participants recommended a series of pilot studies focused on generating new data on the risks and benefits of newborn screening.