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.

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.

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.

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.

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.

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.

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.

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.