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The period following the birth of a child brings many transitions into a woman's life, which can effect major psychological and social changes, including feelings of loss. If new mothers experience negative thoughts at this time, when societal expectations are of happiness, this may lead to feelings of unacceptability and guilt. This study aimed to investigate the prevalence of negative thoughts after childbirth in nondepressed mothers. Following the identification of negative thoughts experienced by women who had suffered postnatal depression, a quantitative survey was conducted, which asked nondepressed mothers to indicate how often they experienced the negative thoughts or images identified by depressed mothers. One hundred and fifty-eight returned questionnaire packs were included in the analyses. The 158 nondepressed mothers acknowledged experiencing all but one of the 54 negative cognitions. Negative cognitions usually associated with postnatal depression are also experienced by mothers who are not considered depressed. This information provides evidence for reassuring new mothers that negative thoughts after childbirth are common. This, in turn, may help to reduce feelings of guilt associated with experiencing negative thoughts in the postpartum period. [ABSTRACT FROM AUTHOR]

Metachromatic leukodystrophy (MLD) is a rare neurodegenerative lysosomal storage disease resulting from bi-allelic pathogenic variants in the ARSA gene. MLD is distinguished clinically based on the age of onset into late-infantile, juvenile, and adult. The late-infantile type is the most severe phenotype presenting with hypotonia, weakness, gait abnormalities, which progresses to mental and physical decline leading to early death. MLD is considered to be pan-ethnic and no founder variants have previously been described in the Ashkenazi Jewish population. We identified three unrelated individuals of Ashkenazi Jewish descent with homozygosity or compound heterozygosity for the c.178C>T (p.Arg60Trp) variant in the ARSA gene, with a phenotype consistent with late-infantile MLD. The carrier frequency was calculated among 93,293 individuals of Ashkenazi Jewish descent through the Dor Yeshorim screening program and found to have a carrier frequency on 1 in 1554 or 0.06%, which may be representative of a founder variant. Molecular protein modeling showed that the variant affects regional folding. Late-infantile MLD should be considered when the c.178C>T (p.Arg60Trp) variant in the ARSA gene is present in either the homozygous or the compound heterozygous states., (© 2024 Wiley Periodicals LLC.)

Although decreased citrulline is used as a newborn screening (NBS) marker to identify proximal urea cycle disorders (UCDs), it is also a feature of some mitochondrial diseases, including MT-ATP6 mitochondrial disease. Here we describe biochemical and clinical features of 11 children born to eight mothers from seven separate families who were identified with low citrulline by NBS (range 3-5 μM; screening cutoff >5) and ultimately diagnosed with MT-ATP6 mitochondrial disease. Follow-up testing revealed a pattern of hypocitrullinemia together with elevated propionyl-(C3) and 3-hydroxyisovaleryl-(C5-OH) acylcarnitines, and a homoplasmic pathogenic variant in MT-ATP6 in all cases. Single and multivariate analysis of NBS data from the 11 cases using Collaborative Laboratory Integrated Reports (CLIR; https://clir.mayo.edu) demonstrated citrulline <1st percentile, C3 > 50th percentile, and C5-OH >90th percentile when compared with reference data, as well as unequivocal separation from proximal UCD cases and false-positive low citrulline cases using dual scatter plots. Five of the eight mothers were symptomatic at the time of their child(ren)'s diagnosis, and all mothers and maternal grandmothers evaluated molecularly and biochemically had a homoplasmic pathogenic variant in MT-ATP6, low citrulline, elevated C3, and/or elevated C5-OH. All molecularly confirmed individuals (n = 17) with either no symptoms (n = 12), migraines (n = 1), or a neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) phenotype (n = 3) were found to have an A or U mitochondrial haplogroup, while one child with infantile-lethal Leigh syndrome had a B haplogroup., (© 2023 Wiley Periodicals LLC.)

The purpose of this pilot project was to evaluate the efficacy of the Collaborative Integrated Laboratory Reports (CLIR) postanalytical tools from Mayo Clinic for detection of newborns with proximal urea cycle disorders (PUCD) in the Georgia newborn screening program that uses the underivatized Neobase2 kit (Perkin Elmer). We evaluated 138,560 newborn screening (NBS) samples (between 125,000 and 130,000 children) and used the CLIR result interpretation guidelines to stratify results. Children at higher risk of having a PUCD received follow-up services including confirmatory lab testing (ammonia, plasma amino acids, urine orotic acid) or a repeat NBS sample. We made multiple adjustments to our CLIR PUCD tool and to our follow-up algorithms in order to reduce false positives. Regardless, a high number of NBS samples resulted with false positives in part due to the glutamine peak also containing lysine. No children were diagnosed with a PUCD during our study period, and the Emory Genetics Metabolic Center is unaware of any children diagnosed outside of the NBS system during that time. Based on our experience, PUCD is not suitable for statewide NBS using Neobase2 and CLIR. Other methodologies that can separate glutamine from other amino acids may have better performance., (© 2022 Wiley Periodicals LLC.)