Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

BACKGROUND AND OBJECTIVES: Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these issues and determine their experiences and knowledge related to genetic testing for Batten disease - a set of inherited neurodegenerative diseases of childhood onset for which no disease modifying therapies yet exist. METHODS: Parents of children with Batten disease completed a survey of their knowledge of genetics, experience with genetic testing, and opinions regarding GTIC. RESULTS: 54% had sought genetic testing for non-affected family members, including predictive diagnosis of healthy, at-risk children. Participation in any genetic counseling was associated with greater knowledge on questions about genetics. The majority of parents felt it was better to know ahead of time that a child would develop Batten disease, believed that this knowledge would not alter how they related to their child, and that parents should have the final say in deciding whether to obtain GTIC. CONCLUSIONS: Parents of children with an inherited disease are knowledgeable about genetics and wish to establish predictive or carrier status of at-risk children.

Randomized clinical trial of pacifier use and bottle-feeding or cupfeeding and their effect on breastfeeding.

OBJECTIVE: To enhance breastfeeding practices, the World Health Organization discourages pacifiers and bottle-feeding. However, the effect of artificial nipples on breastfeeding duration is poorly defined. The effects of 2 types of artificial nipple exposure on breastfeeding duration were evaluated: 1) cupfeeding versus bottle-feeding for the provision of in-hospital supplements and 2) early (2-5 days) versus late (>4 weeks) pacifier introduction. METHODS: A total of 700 breastfed newborns (36-42 weeks, birth weight >or=2200 g) were randomly assigned to 1 of 4 intervention groups: bottle/early pacifier (n = 169), bottle/late pacifier (n = 167), cup/early pacifier (n = 185), or cup/late pacifier (n = 179). The cup/bottle intervention was invoked for infants who received supplemental feedings: cup (n = 251), bottle (n = 230). Data were collected at delivery and at 2, 5, 10, 16, 24, 38, and 52 weeks' postpartum. Intervention effects on breastfeeding duration were evaluated with logistic regression and survival analyses. RESULTS: Supplemental feedings, regardless of method (cup or bottle), had a detrimental effect on breastfeeding duration. There were no differences in cup versus bottle groups for breastfeeding duration. Effects were modified by the number of supplements; exclusive and full breastfeeding duration were prolonged in cup-fed infants given >2 supplements. Among infants delivered by cesarean, cupfeeding significantly prolonged exclusive, full, and overall breastfeeding duration. Exclusive breastfeeding at 4 weeks was less likely among infants exposed to pacifiers (early pacifier group; odds ratio: 1.5; 95% confidence interval: 1.0-2.0). Early, as compared with late, pacifier use shortened overall duration (adjusted hazard ratio: 1.22; 95% confidence interval: 1.03-1.44) but did not affect exclusive or full duration. CONCLUSIONS: There was no advantage to cupfeeding for providing supplements to the general population of healthy breastfed infants, but it may have benefitted mother-infant dyads who required multiple supplements or were delivered by cesarean. Pacifier use in the neonatal period was detrimental to exclusive and overall breastfeeding. These findings support recommendations to avoid exposing breastfed infants to artificial nipples in the neonatal period.