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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.

Objective: To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JNCL since 2002; during that time, the scale has been refined to improve reliability and validity. Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials. Methods: We administered the UBDRS to 82 subjects with JNCL genetically confirmed by CLN3 mutational analysis. Forty-four subjects were seen for more than one annual visit. From these data, the rate of physical impairment over time was quantified using multivariate linear regression and repeated-measures analysis. Results: The UBDRS Physical Impairment subscale shows worsening over time that proceeds at a quantifiable linear rate in the years following initial onset of clinical symptoms. This deterioration correlates with functional capability and is not influenced by CLN3 genotype. Conclusion: The UBDRS is a reliable and valid instrument that measures clinical progression in JNCL. Our data support the use of the UBDRS to quantify the rate of progression of physical impairment in subjects with JNCL in clinical trials.

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 ≥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.

Objective: We set out to compare a eutectic mixture of local anesthetic cream (lidocaine and prilocaine) to dorsal penile nerve block with lidocaine for anesthesia during circumcision. Study Design: In a double-blind study, term newborns were randomized to local anesthetic cream and sodium chloride solution dorsal penile nerve block (n = 31) or to placebo cream and lidocaine dorsal penile nerve block (n = 29). Pain was assessed by determination of heart rate, respiratory rate, and behavioral distress scoring. Group differences were evaluated with repeat-measures analyses of variance. Results: Distress scores and heart rates were significantly higher in the eutectic mixture group than in the lidocaine group. Respiratory rates were higher in the eutectic mixture group but did not reach statistical significance. Conclusions: Distress scores and heart rates were significantly higher in infants treated with the anesthetic mixture than in infants treated with lidocaine. Dorsal penile nerve block with lidocaine is a more efficacious means of providing anesthesia for neonatal circumcision than the mixture of local anesthetics. (Am J Obstet Gynecol 1999;181:1506-11.)

Objective. To evaluate the effects of pacifier use and the timing of pacifier introduction on breastfeeding duration, problems, and frequency. Methods. A cohort of 265 breastfeeding mother–infant dyads was followed prospectively. Maternal interviews were conducted at delivery, 2, 6, 12, and 24 weeks, and thereafter every 90 days until breastfeeding ended. Information was obtained regarding pacifier use, infant feeding, use of supplemental foods and breastfeeding frequency, duration, and problems. The effect of pacifier introduction by 6 weeks of age on breastfeeding duration was evaluated with Kaplan-Meier and Cox proportional hazards models. The effect of the timing of pacifier introduction (≤2 weeks and ≤6 weeks) on breastfeeding duration at 2 and 3 months was evaluated using logistic regression modeling. Results. A total of 181 mothers (68%) introduced a pacifier before 6 weeks. In adjusted analyses, pacifier introduction by 6 weeks was associated with a significantly increased risk for shortened duration of full (hazard ratio, 1.53; 95% confidence interval: 1.15, 2.05) and overall (hazard ratio, 1.61; 95% confidence interval: 1.19,2.19) breastfeeding. Women who introduced pacifiers tended to breastfeed their infants fewer times per day, with significant differences noted at 2 (8.1 ± 2.6 vs 9.0 ± 2.3) and 12 weeks' (6.3 ± 2.0 vs 7.4 ± 1.6) postpartum. At 12 weeks postpartum, women who introduced pacifiers also were more likely to report that breastfeeding was inconvenient and that they had insufficient milk supplies. Pacifier use begun either before 2 weeks or before 6 weeks' postpartum was not significantly associated with breastfeeding duration at 2 and 3 months. Conclusions. Pacifier use was independently associated with significant declines in the duration of full and overall breastfeeding. Breastfeeding duration in the first 3 months' postpartum, however, was unaffected by pacifier use. Women who introduced pacifiers tended to breastfeed their infants less frequently and experienced breastfeeding problems consistent with infrequent feeding. Findings from this study suggest that the decreases in breastfeeding duration associated with pacifier use may be a consequence of less frequent breastfeeding among women who introduce pacifiers to their infants.