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

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.

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 analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease. METHODS: A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software. CONCLUSION Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.
Female ; Humans ; Exome Sequencing ; Mitochondrial Diseases/genetics* ; Mothers ; Mutation ; Phenotype ; Child

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a consanguineous Chinese pedigree affected with Congenital coagulation factor XII (XII) deficiency. METHODS: Members of the pedigree who had visited Ruian People's Hospital on July 12, 2021 were selected as the study subjects. Clinical data of the pedigree were reviewed. Peripheral venous blood samples were taken from the subjects. Blood coagulation index and genetic testing were carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: This pedigree has comprised 6 individuals from 3 generations, including the proband, his father, mother, wife, sister and son. The proband was a 51-year-old male with kidney stones. Blood coagulation test showed that his activated partial thromboplastin time (APTT) was significantly prolonged, whilst the FXII activity (FXII:C) and FXII antigen (FXII:Ag) were extremely reduced. The FXII:C and FXII:Ag of proband's father, mother, sister and son have all reduced to about half of the lower limit of reference range. Genetic testing revealed that the proband has harbored homozygous missense variant of c.1A>G (p.Arg2Tyr) of the start codon in exon 1 of the F12 gene. Sanger sequencing confirmed that his father, mother, sister and son were all heterozygous for the variant, whilst his wife was of the wild type. By bioinformatic analysis, the variant has not been included in the HGMD database. Prediction with SIFT online software suggested the variant is harmful. Simulation with Swiss-Pbd Viewer v4.0.1 software suggested that the variant has a great impact on the structure of FXII protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CONCLUSION The c.1A>G (p.Arg2Tyr) variant of the F12 gene probably underlay the Congenital FXII deficiency in this pedigree. Above finding has further expanded the spectrum of F12 gene variants and provided a reference for clinical diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Middle Aged ; Factor XII/genetics* ; Pedigree ; Codon, Initiator ; East Asian People ; Mothers ; Factor XII Deficiency/genetics* ; Mutation

OBJECTIVE: To explore the genetic etiology of a child with Pitt-Hopkins syndrome. METHODS: A child who had presented at the Medical Genetics Center of Gansu Provincial Maternal and Child Health Care Hospital on February 24, 2021 and his parents were selected as the study subjects. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. Karyotype analysis was also carried out for the child, and her mother was subjected to ultra-deep sequencing and prenatal diagnosis upon her subsequent pregnancy. RESULTS: The clinical manifestations of the proband included facial dysmorphism, Simian crease, and mental retardation. Genetic testing revealed that he has carried a heterozygous c.1762C>T (p.Arg588Cys) variant of the TCF4 gene, for which both parents had a wild-type. The variant was unreported previously and was rated as likely pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (ACMG). Ultra-deep sequencing indicated that the variant has a proportion of 2.63% in the mother, suggesting the presence of low percentage mosaicism. Prenatal diagnosis of amniotic fluid sample suggested that the fetus did not carry the same variant. CONCLUSION The heterozygous c.1762C>T variant of the TCF4 gene probably underlay the disease in this child and has derived from the low percentage mosaicism in his mother.
Child ; Female ; Humans ; Male ; Pregnancy ; Intellectual Disability/genetics* ; Mosaicism ; Mothers ; Mutation ; Parents ; Transcription Factor 4/genetics*

OBJECTIVE: To explore the clinical features, lysosomal enzymatic [acid α-glucosidase (GAA)] activities and genetic variants in a child with late-onset Pompe disease (LOPD). METHODS: Clinical data of a child who had presented at the Genetic Counseling Clinic of West China Second University Hospital in August 2020 was retrospectively analyzed. Blood samples were collected from the patient and her parents for the isolation of leukocytes and lymphocytes as well as DNA extraction. The activity of lysosomal enzyme GAA in leukocytes and lymphocytes was analyzed with or without addition of inhibitor of GAA isozyme. Potential variants in genes associated with neuromuscular disorders were analyzed, in addition with conservation of the variant sites and protein structure. The remaining samples from 20 individuals undergoing peripheral blood lymphocyte chromosomal karyotyping were mixed and used as the normal reference for the enzymatic activities. RESULTS: The child, a 9-year-old female, had featured delayed language and motor development from 2 years and 11 months. Physical examination revealed unstable walking, difficulty in going upstairs and obvious scoliosis. Her serum creatine kinase was significantly increased, along with abnormal electromyography, whilst no abnormality was found by cardiac ultrasound. Genetic testing revealed that she has harbored compound heterozygous variants of the GAA gene, namely c.1996dupG (p.A666Gfs*71) (maternal) and c.701C>T (p.T234M) (paternal). Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1996dupG (p.A666Gfs*71) was rated as pathogenic (PVS1+PM2_Supporting+PM3), whilst the c.701C>T (p.T234M) was rated as likely pathogenic (PM1+PM2_Supporting+PM3+PM5+PP3). The GAA in the leukocytes from the patient, her father and mother were respectively 76.1%, 91.3% and 95.6% of the normal value without the inhibitor, and 70.8%, 112.9% and 128.2% of the normal value with the inhibitor, whilst the activity of GAA in their leukocytes had decreased by 6 ~ 9 times after adding the inhibitor. GAA in lymphocytes of the patient, her father and mother were 68.3%, 59.0% and 59.5% of the normal value without the inhibitor, and 41.0%, 89.5% and 57.7% of the normal value with the inhibitor, the activity of GAA in lymphocytes has decreased by 2 ~ 5 times after adding the inhibitor. CONCLUSION The child was diagnosed with LOPD due to the c.1996dupG and c.701C>T compound heterozygous variants of the GAA gene. The residual activity of GAA among LOPD patients can range widely and the changes may be atypical. The diagnosis of LOPD should not be based solely on the results of enzymatic activity but combined clinical manifestation, genetic testing and measurement of enzymatic activity.
Humans ; Child ; Male ; Female ; Glycogen Storage Disease Type II/pathology* ; Retrospective Studies ; alpha-Glucosidases/genetics* ; Mothers ; Lysosomes/pathology* ; Mutation

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS). METHODS: A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. RESULTS: WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother. CONCLUSION The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.
Female ; Humans ; Dwarfism/genetics* ; Exome Sequencing ; Intellectual Disability/genetics* ; Microcephaly ; Mothers ; Mutation ; Male ; Child

OBJECTIVE: To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities. METHODS: A male child who had presented at the Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Short tandem repeat (STR) analysis was carried out to determine its parental origin. The splicing variant was also validated in vitro with a minigene assay. RESULTS: WES results revealed that the child had harbored a novel splicing variant of c.176-2A>G in the PAK3 gene, which was inherited from his mother. The results of minigene assay have confirmed aberrant splicing of exon 2. According to the guidelines from the American College of Medical Genetics and Genomics, it was classified as a pathogenic variant (PVS1+PM2_Supporting+PP3). CONCLUSION The novel splicing variant c.176-2A>G of the PAK3 gene probably underlay the disorder in this child. Above finding has expanded the variation spectrum of the PAK3 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child ; Female ; Humans ; Male ; Pregnancy ; Exons ; Intellectual Disability/genetics* ; Mothers ; Mutation ; p21-Activated Kinases/genetics* ; Parents ; RNA Splicing