Maternal Worry About Infant Weight and its Influence on Artificial Milk Supplementation and Breastfeeding Cessation

Background: Maternal worry about infant weight has inconsistently been reported as a breastfeeding barrier. Weight monitoring is a critical tool to assess adequacy of infant feeding. Yet, little is known about the intensity of maternal worry about infant weight or associated breastfeeding outcomes. Research aims: To examine (1) the frequency and intensity of maternal worry about infant weight; (2) the relationship between worry about weight and use of artificial milk; and 3) the relationship between worry about weight and breastfeeding cessation. Methods: A prospective cross-sectional design was used. A questionnaire was completed by women in the United States (N = 287) from 12 web-based maternal support groups. Results: Sixty-three percent of women (n = 182) had some worry about infant weight. Participants breastfeeding for the first time had more worry (p =.035). Participants still breastfeeding had less worry about weight compared to those who had stopped (67%, n = 147 vs. 41%, n = 28). Exclusive breastfeeding participants had less worry (p \u3c.001) compared to those who supplemented with artificial milk. Increased worry was associated with the use of artificial milk within 1 week of birth (p \u3c.001) and early breastfeeding cessation (p \u3c.001). Conclusions: Worry about weight is a significant breastfeeding barrier. It is associated with first time breastfeeding, less exclusive breastfeeding, use of artificial milk, and earlier breastfeeding cessation. Lactating mothers need anticipatory guidance about expected neonatal weight changes and interventions to help relieve worry about infant weight

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Purpose: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). Methods: Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients’ fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics. Results: All patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients’ fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Conclusion: Heterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts