Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes.

Little is known about the psychosocial consequences of testing newborns for genetic susceptibility to multifactorial diseases. This study reports quantitative psychosocial evaluations of parents and children 12 years after screening for type 1 diabetes (T1D). Two parent-child cohorts participated: children at increased genetic risk of T1D and children at low genetic risk. T1D risk status was determined at birth as part of a prospective study investigating potential environmental triggers of autoimmunity. Parent measures included ratings of children's emotional, behavioural and social functioning (Child Behaviour Checklist) and parenting style (Alabama Parenting Questionnaire). Child self-concept was assessed using the self-description questionnaire (SDQ1). Statistical analyses were conducted to test for differences between the groups. Twelve years after testing there was no evidence that knowledge of a child's increased genetic risk of T1D adversely affected parental ratings of their child's emotional, behavioural or social functioning, or impacted upon parenting style. There was no adverse effect upon the child's assessment of their self-concept. This study provides important preliminary data concerning longer-term psychosocial effects of incorporating tests for genetic risk of complex disorders into NBS panels. While it is reassuring that no significant adverse effects have been detected, more data will be required to adequately inform policy.

Why do parents decline newborn intramuscular vitamin K prophylaxis?

OBJECTIVE: To explore the influencing factors and reasoning of parents who opt out of intramuscular vitamin K prophylaxis for their newborn. DESIGN: We conducted a qualitative study with 15 families from the Otago/Southland region of New Zealand. Semistructured interviews explored their choice to opt out of intramuscular vitamin K prophylaxis and thematic analysis was used to elucidate themes that captured important aspects of this parental decision-making process. RESULTS: Parents opt out of intramuscular vitamin K for a variety of reasons. These were clustered into three main themes: parents' beliefs and values (philosophy and spirituality), concerns about their child's welfare (pain and potential side effects) and external influencing factors (family, friends, media and health professionals). As part of a wider family hesitancy towards medical intervention, the majority of parents also raised concerns regarding other perinatal or childhood interventions. CONCLUSION: Many factors influence parental decision making and lead to a decision to opt out of newborn intramuscular vitamin K prophylaxis. Due to strong parallels with other common childhood interventions, these findings have relevance for vitamin K prophylaxis and for other healthcare interventions in childhood.

Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns.

PURPOSE: The potential for utilizing whole-genome sequencing in newborn screening (NBS) has been recognized, but the ethical, legal, and social issues of this may require further analysis. This article begins to address the gap in the literature concerning psychosocial effects of "genomic NBS," focusing on later effects of screening for genetic susceptibility to a single, complex disorder: type 1 diabetes (T1D). It also examines parental attitudes toward potential future expansions of NBS. METHODS: Fifteen semistructured interviews were conducted with parents of children who had been tested for genetic susceptibility to T1D 12 years previously. RESULTS: Parents in this study were not psychologically burdened by knowledge of their child's genetic risk but perceived little benefit. Most of these parents disclosed the result to their child at age 12 years without obvious adverse impact. Parents were unenthusiastic about potential future expansions of NBS to include similar genomic tests. CONCLUSIONS: Absence of adverse psychosocial effects and ease of disclosure to the child represent initial positive findings, but they require replication and further evaluation in relation to uptake of prevention strategies. Attitudes of parents to "genomic NBS" are variable, suggesting that parental choice will be an important component of future screening programs.

Parental reasoning about growth attenuation therapy: report of a single-case study.

In 2006 a case report was published about a 6-year-old girl, Ashley, who has profound developmental disabilities and was treated with oestrogen patches to limit her final height, along with a hysterectomy and the removal of her breast buds. Ashley's parents claimed that attenuating her growth would make it possible for them to lift and move her more easily, facilitating greater involvement in family activities and making routine care more straightforward. The 'Ashley treatment' provoked public comment and academic debate and remains ethically controversial. As more children are being referred for such treatment, there is an urgent need to clarify how clinicians and ethics committees should respond to such requests. The controversy surrounding the Ashley treatment exists, at least in part, because of gaps in the literature, including a lack of empirical data about the outcomes for children who do and do not receive such treatment. However, we suggest in this paper that there is also merit in examining the parental decision-making process itself, and provide empirical data about the reasoning of one set of parents who ultimately chose part of this treatment for their child. Using the interview data, we illuminate some important points regarding how these parents characterise benefits and harms and their responsibilities as surrogate decision-makers. This analysis could inform decision-making about future requests for growth attenuation and might also have wider relevance to healthcare decision-making for children with profound cognitive impairment.

Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009.

AIM: The purpose of this study was to compare the rate of diagnosis of inborn errors of intermediary metabolism (IEMs) in New Zealand in the 3 years before and after the commencement of expanded newborn screening (ENBS) in December 2006 METHOD: The cases diagnosed during the period January 2004 to December 2006 were compared to a subsequent cohort, December 2006-December 2009, when ENBS was available in NZ RESULTS: The total number of patients diagnosed in the 3 years prior to the introduction of EBNS was 15. In the following 3 years 42 cases were diagnosed. Thirty cases were diagnosed by ENBS. Two were diagnosed after investigation of older siblings in the families of the EBNS cases. Seven cases presented clinically with IEMs either because they had conditions that are not detectable with EBNS or they presented as older children born prior to December 2006. Three cases of carnitine-acylcarnitine translocase deficiency (CACT) presented on day 1 with symptoms and were diagnosed prior to the day 2 sample for EBNS being obtained. CONCLUSION: ENBS has resulted in an increase in the number of patients diagnosed with IEMs in New Zealand.

The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening.

AIMS: Expanded newborn screening uses a new technology, tandem mass spectrometry, to diagnose an additional 20 plus rare treatable inborn errors of metabolism based on the further analysis of the current newborn Guthrie card blood sample. The purpose of this study was to investigate the incidence of these disorders in New Zealand, based on clinical diagnosis rates, and compare these to the incidence, based on the established expanded newborn screening programme, in New South Wales, Australia. METHODS: Over a 3-year period, the cases of inborn errors of metabolism notified to the New Zealand Paediatric Surveillance Unit and/or identified by the relevant metabolic laboratories were recorded and compared to the incidence rates during the same period in New South Wales. RESULTS: There were 175,000 and 270,000 births in New Zealand and New South Wales respectively during the study period. Eight cases of treatable inborn errors (potentially diagnosable by newborn screening) were diagnosed in New Zealand compared to 41 (including two prior to screening) in New South Wales. The disorder medium chain acyl Co-A dehydrogenase deficiency was diagnosed twice in New Zealand and in 24 newborn infants in New South Wales. CONCLUSIONS: Without expanded newborn screening, inborn errors of metabolism are under-diagnosed in New Zealand. This study supports the recent establishment of screening in New Zealand.

Maternal psychological reaction to newborn genetic screening for type 1 diabetes.

OBJECTIVE: The purpose of this work was to describe levels of maternal anxiety, depressive symptoms, and perceptions of infant vulnerability associated with newborn genetic screening for susceptibility to type 1 diabetes. PATIENTS AND METHODS: Mothers of infants tested at birth for genetic susceptibility to type 1 diabetes as part of a prospective study investigating potential environmental triggers of autoimmunity were recruited to this study. Three mother-infant cohorts were studied: 38 infants at increased genetic risk, 73 at low risk, and 76 who had not undergone testing. The Vulnerable Baby Scale, Edinburgh Postnatal Depression Scale, and state subscale of the State Trait Anxiety Inventory were administered at the 9-week, 4-month, and 1-year postnatal ages. Genetic-risk notification occurred at the 10-week postnatal age. Mothers whose infants had undergone genetic testing were also asked to subjectively rate how much they thought and worried about their child's genetic test result. Statistical analyses were conducted to test for differences in questionnaire scores among the 3 groups. RESULTS: No difference among the groups was detected in Vulnerable Baby Scale or Edinburgh Postnatal Depression Scale scores using linear mixed-effects model analysis. Maternal anxiety was paradoxically slightly lower in the increased-risk group shortly after notification of results, but there were no significant differences among the groups by 1 year. Mothers of infants in the high-risk group reported thinking and worrying about their child's test result significantly more than mothers of low-risk infants at both time points after notification of results. CONCLUSIONS: Newborn genetic screening to identify infants at risk for type 1 diabetes is not associated with elevated levels of maternal anxiety, depressive symptoms, or heightened perceptions of infant vulnerability. However, responses to subjective assessment questions suggest that it is possible that more subtle effects on mothers do occur, and this requires further investigation.

Vulnerable Baby Scale: development and piloting of a questionnaire to measure maternal perceptions of their baby's vulnerability.

OBJECTIVES: To develop and provide initial data to validate a contemporary measure of maternal perceptions of infant vulnerability. METHODS: Questions that address current concerns of mothers regarding their young children (such as the risk of sudden infant death syndrome) were added to an existing Vulnerable Child Questionnaire. Questions not relevant to either current concerns or to young infants were removed. The modified questionnaire, along with standard measures of maternal anxiety and depressive symptoms, were administered to mothers of 39 healthy full-term babies, 17 mothers of 'medically fragile' babies and 19 mothers of jaundiced babies. Babies were approximately 12 weeks of age at the time of completion of the questionnaire. RESULTS: Three questions were removed from the questionnaire on the basis of poor item-total correlations, leaving the final version with 10 questions, scored on 1-5 rating scales. Cronbach alpha for the revised scale was 0.7. There was a significant difference (P = 0.002) in mean vulnerable baby scores between the control group and the 'medically fragile' group. There was a moderately strong correlation between vulnerable baby score and maternal state anxiety (r = 0.6) and a weaker correlation with maternal depressive symptoms (r = 0.3). CONCLUSIONS: The modified questionnaire has good internal consistency. The difference in mean scores between the three groups, and correlations with maternal anxiety and depressive symptoms, lend construct validity to the scale. The Vulnerable Baby Scale appears to be suitable for assessing maternal perceptions of the vulnerability of their young babies in clinical and research settings although further research, with larger samples, may be necessary to fully establish the scale's psychometric properties.