BACKGROUND

Maternal malnutrition is a major cause of low birth weight (LBW) newborn outcome especially among adolescent mothers. It is one of the key drivers of child stunting and initiates the vicious cycle of intergenerational malnutrition. The body mass index prior to pregnancy or at the initial trimester is currently being used to establish the desired weight gain throughout pregnancy. However, Filipino adolescents often delay their first antenatal visit at a later stage of pregnancy. Without a baseline weight, the establishment of appropriate weight gain and nutritional status is often challenging. Mid-upper arm circumference (MUAC) was proven to be a good proxy measure of acute malnutrition, however, there was no global consensus on what MUAC cut-off point to use to identify pregnant adolescents at risk for delivering LBW babies. Finding the optimal cut-off could facilitate early identification and intervention of pregnant adolescents who are nutritionally at risk and could eventually break the cycle of intergenerational malnutrition.

The study aims to determine the association of maternal MUAC and the birth weight outcomes among newborn deliveries of adolescents in a tertiary hospital for a period of six months and to identify the optimal maternal MUAC cut-off point that can be used to predict low birth weight outcome among newborn deliveries of adolescents in a tertiary hospital.

A cross-sectional study was conducted among adolescents ages 10 to 19 years who delivered babies in a tertiary hospital in the Philippines for a period of six months. Maternal MUAC and LBW outcome were documented, and their association was determined using a logistic regression analysis. To measure diagnostic accuracy, the sensitivity, specificity, and the area under the curve were taken for each MUAC point. A receiver operating characteristic (ROC) curve was used to aid the MUAC cut-off determination.

Out of 237 newborn deliveries, 35% were noted with low birth weight while 65% had normal birth weight. Most of the mothers were in their late adolescence at 78%. The crude association for the MUAC cut-offs ≤23.00 cm, ≤23.50 cm, and ≤24.00 cm and LBW showed a significant value of 2.19, 2.25, and 2.39 at 95% CI, respectively. However, it is only the cut-off ≤24.00 cm that showed significant results for adjusted association by the logistic regression analysis. The MUAC cut-off ≤24.00 cm also showed a better trade-off value between the sensitivity and specificity. Furthermore, the optimal maternal MUAC measurement that predicts LBW newborn outcome points to ≤24.00 cm cut-off based on the ROC curve.

This study shows that the maternal MUAC is predictive of LBW outcome among adolescent deliveries.A MUAC cut-off of ≤24.00 cm was superior to lower cut-offs studied. The pregnant adolescents might need a higher MUAC cut-off than adults to allow timely intervention and prevention of poor neonatal outcomes. By doing this simple screening test, suspected pregnant adolescents can be easily identified and referred for further confirmatory testing.

Becoming a mother represents a pivotal life transition that introduces new roles and responsibilities for women. A deeper understanding of this concept can aid researchers and healthcare professionals in selecting appropriate measurement tools and designing nursing interventions that support a positive transition to motherhood, particularly for first-time mothers. This concept analysis aimed to explore and to clarify the defining attributes of maternal role transition in first pregnancy in order to establish an operational definition, and to identify its antecedents and consequences.

Guided by Walker and Avant's concept analysis model, this study also applied the Population, Concept, and Context (PCC) framework to determine eligibility criteria for the integrative review: studies on motherhood (population), transition (concept), and first-time pregnancy and childbirth (context). Electronic databases including CINAHL, MEDLINE, Scopus, and ProQuest were searched. Extracted data included definitions of maternal role transition, its key domains, the settings and populations of the included studies, and information relevant to the eight steps of concept analysis—namely, attributes, antecedents, and consequences.

From an initial 1,045 citations, 64 full-text articles were screened, and 30 studies met the inclusion criteria. Findings indicated that maternal role transition is both a process and an experience that facilitates a woman's journey toward embracing motherhood. Influential factors include preparation, perceived life changes, social support, trust, emotional comfort, couple relationships, and infant growth and development. A successful transition resulted in enhanced maternal skills, competence, confidence, acceptance of the maternal role, gratification, infant attachment, and overall maternal role adjustment.

Background: Child-rearing is challenging for adolescent mothers at risk of providing limited care to their children because of the challenges and demands of simultaneously being an adolescent and a mother. Children aged 0-2 years depend on caregivers like their young mothers to promote their physical, emotional, social, and cognitive growth and development. Objective: The study aimed to determine the effectiveness of the Child-rearing Information Booklet (CRIB) among adolescent mothers with children aged 0-2 years on the three dimensions of knowledge, attitude, and practices. Methods: The study utilized the quasi-experimental non-equivalent pre-test-post-test control group design to investigate 30 intervention and 30 comparison adolescent mothers with children aged 0-2 years who met the study criteria in Baguio City from January 2019 to January 2021. The fishbowl sampling technique was used in selecting the population and the specific barangays. A validated self-made questionnaire (I-CVI of 0.95 with Cronbach's α of 0.96) determined both groups' knowledge, attitude, and practices (KAP). The study used the weighted mean for adolescent mothers' KAP while an independent sample t-test analyzed the significant change in the scores of both groups and to answer the significant difference in the pre- and post-test scores between the two groups. Results: The results revealed that both groups are knowledgeable about child-rearing skills. Both groups have a favorable attitude when caring for their children and have a very satisfactory practice in childcare. The study also yielded a significant difference in the change of scores in the pre-and post-test scores of the two groups, specifically in knowledge and practice, while no significant difference in their attitude. It also presented a significant difference in the post-test scores between the two groups along with their knowledge (large effect size), attitude (medium effect size), and practices (large effect size). Conclusions Adolescent mothers have pre-existing KAP in child-rearing. The CRIB effectively enhances adolescent mothers' child-rearing knowledge and practice. Also, the increase of scores in KAP in child-rearing during the posttest may not be solely caused by the CRIB but also influenced by their age, level of education, living environment, experience in child-rearing, and age of their child. The CRIB has a high practical significance in improving the knowledge and practices among adolescent mothers but not in their attitude.
Adolescent Mothers ; Knowledge ; Attitude

BACKGROUND

Child-rearing is challenging for adolescent mothers at risk of providing limited care to their children because of the challenges and demands of simultaneously being an adolescent and a mother. Children aged 0-2 years depend on caregivers like their young mothers to promote their physical, emotional, social, and cognitive growth and development.

The study aimed to determine the effectiveness of the Child-rearing Information Booklet (CRIB) among adolescent mothers with children aged 0-2 years on the three dimensions of knowledge, attitude, and practices.

The study utilized the quasi-experimental non-equivalent pre-test-post-test control group design to investigate 30 intervention and 30 comparison adolescent mothers with children aged 0-2 years who met the study criteria in Baguio City from January 2019 to January 2021. The fishbowl sampling technique was used in selecting the population and the specific barangays. A validated self-made questionnaire (I-CVI of 0.95 with Cronbach's α of 0.96) determined both groups' knowledge, attitude, and practices (KAP). The study used the weighted mean for adolescent mothers' KAP while an independent sample t-test analyzed the significant change in the scores of both groups and to answer the significant difference in the pre- and post-test scores between the two groups.

The results revealed that both groups are knowledgeable about child-rearing skills. Both groups have a favorable attitude when caring for their children and have a very satisfactory practice in childcare. The study also yielded a significant difference in the change of scores in the pre-and post-test scores of the two groups, specifically in knowledge and practice, while no significant difference in their attitude. It also presented a significant difference in the post-test scores between the two groups along with their knowledge (large effect size), attitude (medium effect size), and practices (large effect size).

Adolescent mothers have pre-existing KAP in child-rearing. The CRIB effectively enhances adolescent mothers' child-rearing knowledge and practice. Also, the increase of scores in KAP in child-rearing during the posttest may not be solely caused by the CRIB but also influenced by their age, level of education, living environment, experience in child-rearing, and age of their child. The CRIB has a high practical significance in improving the knowledge and practices among adolescent mothers but not in their attitude.

OBJECTIVE: To explore the clinical and genetic characteristics of three children with KBG syndrome. METHODS: Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out. RESULTS: All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype. CONCLUSION The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Female ; Child ; Humans ; Abnormalities, Multiple/genetics* ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/genetics* ; Tooth Abnormalities/genetics* ; Facies ; Repressor Proteins/genetics* ; Mothers ; Mutation

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with pseudohypoparathyroidism. METHODS: Peripheral blood samples of the proband and his parents were collected and subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified among the pedigree and 50 randomly selected healthy individuals through analysis of restriction fragment length polymorphism. Short tandem repeat (STR) linkage analysis was used to verify the parental origin of the pathogenic variants. RESULTS: Trio-WES and Sanger sequencing showed that the proband and his mother had both harbored a c.121C>G (p.His41Asp) variant of the GNAS gene, which was not found in other family members and the 50 healthy controls. The variant was not found in international databases. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic. CONCLUSION The novel c.121C>G variant of the GNAS gene probably underlay the disease in this pedigree. Above finding has enriched the spectrum of GNAS gene variants.
Female ; Humans ; Pedigree ; East Asian People ; Mothers ; Exome Sequencing ; Pseudohypoparathyroidism/genetics* ; Mutation ; China ; Chromogranins/genetics* ; GTP-Binding Protein alpha Subunits, Gs/genetics*

OBJECTIVE: To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID). METHODS: Clinical data of the proband and her family members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were carried out. For the suspected genetic variants, Sanger sequencing was used to verify, and pathogenicity assessment was conducted. RESULTS: The proband and her mother both had intellectual and language impairment, and their fetal hemoglobin (HbF) was significantly elevated. A heterozygous c.1327_c.1328delTC (p.Ser443Hisfs*128) variant was found in exon 4 of the BCL11A gene by WES, which has resulted in truncated expression of the encoded protein, and Sanger sequencing has verified that the variant was inherited from the mother. The variant was not found in related databases. The variant was predicted as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PM2+PP1). No karyotypic abnormality was found in the proband, her parents and brother, and no pathogenic CNVs was found in the proband and her parents. CONCLUSION The c.1327_c.1328delTC (p.Ser443Hisfs*128) variant may underlay the BCL11A-ID in the proband and her mother. This de novo variant has expanded the mutational spectrum of the BCL11A gene.
Humans ; Male ; Female ; Intellectual Disability/genetics* ; DNA Copy Number Variations ; Pedigree ; Mutation ; Transcription Factors/genetics* ; Mothers ; Repressor Proteins/genetics*

OBJECTIVE: To explore the genetic basis for a patient with Familial hemophagocytic lymphohistiocytosis (FHL). METHODS: A 35-day-old male infant who was admitted to the Oriental Hospital Affiliated to Xiamen University on August 3, 2021 due to fever for over 7 hours was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband and his parents, and candidate variants were selected based on the clinical phenotypes of the proband and confirmed by Sanger sequencing. RESULTS: WES and Sanger sequencing results revealed that the proband had harbored compound heterozygous c.67_71delinsGCCC and c.65delC variants of the PRF1 gene, which were respectively inherited from his mother and father. The c.67_71delinsGCCC variant was unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics and clinical manifestations, it was classified as pathogenic (PVS1+PM2_Supporting+PM3+PP4). c.65delC was a known pathogenic variant (PVS1+PM2_Supporting+PM3_Strong+PP4). CONCLUSION The compound heterozygous variants of c.67_71delinsGCCC and c.65delC of the PRF1 gene probably underlay the disease in the proband. The identification of the novel variant has expanded the mutational spectrum of the PRF1 gene.
Male ; Female ; Humans ; Lymphohistiocytosis, Hemophagocytic/genetics* ; Genomics ; Mothers ; Mutation ; Phenotype

OBJECTIVE: To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene. METHODS: Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed. RESULTS: All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up. CONCLUSION Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.
Child ; Male ; Infant, Newborn ; Female ; Humans ; Retrospective Studies ; Hypothyroidism/genetics* ; Genetic Testing ; Mothers ; Immunoglobulins/genetics* ; Membrane Proteins/genetics*

About 3% of pregnant women suffer from chronic kidney disease (CKD). This article reviews the literature on the outcomes of neonates born to mothers with CKD (including those undergoing dialysis and kidney transplantation), and the results show that CKD during pregnancy may increase the risk of preterm birth, low birth weight, and small for gestational age infant, but it does not increase the risk of congenital anomalies. As for long-term outcomes, CKD during pregnancy has no significant impact on offspring's physical development and immune function. Neurodevelopmental outcome of offspring is associated with preterm birth and low birth weight, rather than intrauterine drug exposure. However, further research and follow-up are needed to investigate the outcome of neonates born to mothers with CKD.
Infant ; Infant, Newborn ; Pregnancy ; Female ; Humans ; Birth Weight ; Premature Birth ; Mothers ; Renal Insufficiency, Chronic/therapy* ; Infant, Small for Gestational Age