Lactation Experience of Mothers and Feeding Outcomes of Infants with Congenital Diaphragmatic Hernia.

Objective: This study explores the congenital diaphragmatic hernia (CDH) infant-mother dyad with regard to maternal lactation outcomes and infant exposure to a human milk diet. Study Design: This was a retrospective descriptive cohort study conducted at Children's Hospital of Philadelphia. A total of 149 infants born with CDH and admitted to the Newborn/Infant Intensive Care Unit (N/IICU) were included in the study. Results: Of 149 mothers, 141 (95%) initiated pumping for their CDH infants. At discharge from the N/IICU, 79% (n = 118) of infants were being fed human milk. Among those discharged on human milk, 55% (n = 65) were discharged being fed unfortified human milk with 9% (n = 11) being fed unfortified maternal hind milk. Conclusion: This research demonstrates that mothers of CDH infants can effectively establish and maintain a complete milk supply and that the majority of infants with CDH can receive a human milk diet for the entire hospital stay.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Recently, causative variants in SPECC1L were reported in a pedigree reported in 1988 as atypical Opitz GBBB syndrome. Six families with SPECC1L variants have been reported thus far. We report here eight further pedigrees with SPECC1L variants, including a three-generation family, and a further individual of a previously published family. We discuss the nosology of Teebi and GBBB, and the syndromes related to SPECC1L variants. Although the phenotype of individuals with SPECC1L mutations shows overlap with Opitz syndrome in its craniofacial anomalies, the canonical laryngeal malformations and male genital anomalies are not observed. Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although intellectual disability, neuronal migration defect, and muscular problems remain largely specific to Baraitser-Winter syndrome. In conclusion, we suggest that patients with pathogenic variants in SPECC1L should not be described as "dominant (or type 2) Opitz GBBB syndrome", and instead should be referred to as "SPECC1L syndrome" as both disorders show distinctive, non overlapping developmental anomalies beyond facial communalities.

The effect of socioeconomic status on the language outcome of preterm infants at toddler age.

BACKGROUND: Independently, both prematurity and low socioeconomic status (SES) compromise language outcome but less is known regarding the effects of low SES on outcome of prior preterm infants at toddler age. AIM: To assess SES effects on the language outcome of prior preterm infants at toddler age. STUDY DESIGN: Retrospective chart review of infants born at ≤32 weeks, matched for gestational age (GA), birth weight (BW), chronic lung disease (CLD), periventricular leukomalacia (PVL), right and left intraventricular hemorrhage (IVH-R, L), and age at Bayley Scales of Infant Development III (BSID-III) testing. SUBJECTS: Using insurance status as a proxy for SES, 65 children with private insurance (P-Ins) were matched with 65 children with Medicaid-type insurance (M-Ins). OUTCOME MEASURES: Bayley Scales of Infant Development-III Language Composite. RESULTS: M-Ins vs. P-Ins were similar in GA, BW, and age at BSID-III testing (mean 22.6 months adjusted), as well as other matched characteristics (all p ≥ 0.16). BSID-III Language Composite scores were lower in M-Ins than P-Ins (87.9 ± 11.3 vs. 101.9 ± 13.6) with a clinically significant effect size of 0.93 (p < 0.001). Overall, 45% of M-Ins exhibited mild to moderate language delay compared to 8% of P-Ins. Receptive and Expressive subscale scores also were lower in M-Ins than in P-Ins (both p < 0.001). CONCLUSIONS: In this preterm cohort, by toddler age, M-Ins was associated with lower scores on measures of overall language as well as receptive and expressive language skills. Our findings, showing such an early influence of SES on language outcome in a cohort matched for biomedical risk, suggest that very early language interventions may be especially important for low SES preterm toddlers.