Factors contributing to neonatal readmissions to a level 4 hospital within 28 days after birth.

AIM: To identify maternal and neonatal factors associated with neonatal readmissions. METHODS: A case controlled, cross-sectional, retrospective review of neonatal readmissions within 28 days from birth to a level 4 hospital in Western Sydney was conducted from January to December 2018. Maternal and neonatal factors for readmission were assessed. A control group of 122 neonates were randomly selected. Comparative statistics and logistic regression analysis were used to analyse the data. RESULTS: Of the 3914 neonatal discharges following birth, there were 129 neonatal readmissions (3.3%). Following regression analysis, gestational age (odds ratio 0.82, 95% confidence interval 0.7-0.97, P = 0.02) and intrapartum intravenous (IV) fluids (odds ratio 2.78, 95% confidence interval 1.66-4.67, P < 0.001) were associated with readmission. The majority of readmissions were feeding-related (72.9%). Of these readmissions, 29.8% had feeding concerns noted by nursing or midwifery staff during the initial hospital stay. During the initial hospital stay following birth, neonatal feeding issues were significantly associated with primiparous mothers (P = 0.005). Mothers who did not receive IV fluids during labour were also more likely to experience feeding issues (P = 0.015). CONCLUSION: Our findings indicate that hospital discharge prior to established feeding patterns may be associated with an increased incidence of neonatal readmission. The factors associated with neonatal readmission are earlier gestational age and intrapartum IV fluid administration. These findings suggest that more comprehensive feeding assessment prior to discharge, flexibility of discharge timing and increased community support may reduce neonatal readmission.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

Mutations in the KDM5C gene (lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX; MIM 314690) were recently associated with X-linked intellectual disability (XLID). To date only two case reports and five studies that screen for mutations in the KDM5C gene have been published, with 21 mutations reported. Herein we present a large family with XLID caused by a novel mutation c.2T > C in the start codon of the KDM5C gene, presumably leading to loss of gene translation. Six sibs out of seven (two sons and four sisters) and their mother carry this mutation. Two affected males presented the distinctive clinical phenotype, characterized by moderate short stature, clumsy gait, ataxia, increased muscle tone and brisk tendon reflexes. They constantly bore a happy and smiling facial expression, with a protruding tongue. We hereby offer the first thorough description of five affected females with the KDM5C gene mutation. Most frequent clinical features were short stature, facial dysmorphism and developmental problems. X-chromosome inactivation study showed completely skewed inactivation pattern of mutation-carrying chromosome in all affected female patients.