Search Results (231)

Background: Maternal and newborn health disparities remain a challenge in Puerto Rico, especially in underserved communities. Comienzo Saludable Puerto Rico, sponsored by the U.S. Department of Health and Human Services’ Healthy Start Initiative (HRSA), addresses these gaps through an integrated Networks of Care model known as Cuidado Compartido. Comienzo Saludable Puerto Rico is a maternal, paternal, and child health program aimed at improving the health and well-being of pregnant women, mothers, fathers, newborns, and children in Puerto Rico, particularly those from disadvantaged communities. Methods: This paper presents the Comienzo Saludable Puerto Rico program’s Cuidado Compartido model to integrate a network of healthcare providers and services across hospitals, community organizations, and families. This model aims to improve maternal and newborn/child health outcomes by focusing on the importance of integrated, hospital-community-based care networks. Results: Participants experienced significant improvements in key birth outcomes: low birth weight prevalence declined by 27.2% compared to the community baseline, premature birth rates decreased by 30.9%, and infant mortality dropped by 75%, reaching 0% by 2021 and remaining there through 2023. These results were complemented by increases in maternal mental health screening, paternal involvement, and breastfeeding practices. Conclusions: The Cuidado Compartido model demonstrates a scalable, culturally responsive strategy to improve maternal, newborn, and child health outcomes. It offers critical insights for implementation in other high-need contexts. Full article

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

Much U.S. research supports the effectiveness of parenting education delivered via the home visiting method. Home visitors are essential to reaching fathers in this context, but not all have favorable attitudes toward father engagement or feel confident working with fathers. Given that father involvement is important for a wide range of child and adolescent outcomes and that fathers benefit from parenting education, it is important to better understand the forces that shape home visitors’ attitudes toward fathers, and thus their subsequent efforts to include them in publicly funded programming. Using survey data from 95 home visitors in Tennessee, this study explores whether home visitors’ beliefs about fathers and attitudes toward father engagement vary as a function of home visitor or agency characteristics. Results suggest training in social work, reporting father-friendly organizational attitudes and behaviors at one’s agency, and reporting supervisor support specifically for father engagement relate to various favorable fathering attitudes. Home visitors’ strategies to engage fathers in home visiting are presented, including strategies for before, during, and after the home visit. Overall, family service agency administrators are in key positions to make decisions that can improve agency father-friendliness, home visitor attitudes toward fathers, and subsequent outcomes for fathers, mothers, and children. Full article

Background: Chronic pain affects one in five youth globally and is frequently accompanied by mental health challenges that extend into adulthood. Caregivers play a vital role in supporting youth with chronic pain, yet their own mental and physical health needs are often overlooked. While caregiver well-being is linked to child outcomes, few interventions directly address caregivers’ health, especially among those facing systemic barriers. This study explored the lived experiences of caregivers to better understand their unmet needs and inform the co-design of a supportive digital health solution. Methods: We conducted a qualitative exploratory study involving 32 caregivers of youth with chronic pain across Canada and Australia. Semi-structured interviews were co-facilitated by caregiver partners. Thematic analysis was applied to interview data. Results: Two overarching themes were identified: (1) bearing the weight and sacrifice of caregiving and (2) deep interrelatedness and blurred boundaries. Caregivers reported profound emotional, physical, and financial burdens; strained relationships; and social isolation. Many struggled with self-neglect, prioritizing their child’s needs over their own. Fathers’ evolving caregiving roles challenged traditional gender norms, though mothers continued to bear a disproportionate load. Despite challenges, caregivers demonstrated resilience and recognized their well-being as interconnected with their child’s health. Conclusions: Findings underscore the need for systemic investment in caregiver well-being. Digital health solutions, including virtual peer networks, mental health resources, and tailored education, offer scalable, accessible pathways for support. These insights will inform the development of Power over Pain for Primary Caregivers, a digital solution and knowledge hub aimed at improving caregiver well-being and family outcomes, aligning with global efforts to enhance family-centred pediatric pain care. Full article

Hearing impairments (HIs) are clinically and genetically very heterogeneous. Finding the causative mutations in patients is frequently a challenge. We investigated two brothers affected by a sensorineural, moderate non-syndromic HI. Exome sequencing revealed that they carried the heterozygous c.812C>T (p.Ser271Leu) variant in GATA3. This gene encodes a transcription factor involved in embryonic development, its mutations causing the autosomal dominant HDR (hypoparathyroidism, deafness, and renal disease) syndrome. The variant affects a conserved residue within the proximal zinc-finger motif of GATA3. Sanger sequencing confirmed the presence of the variant in the two brothers, but it showed that surprisingly it was not carried by any of the parents. Segregation studies on 20 fully informative microsatellite markers in the family confirmed that the variant arose de novo. A benign SNP in the mother, close to the position of the variant, allowed us to determine that this was inherited from the father. Gene reporter functional assays supported the pathogenicity of the variant. Clinical reassessment of the two brothers did not disclose any additional abnormality. We conclude that mosaicism for this de novo mutation in the father’s germ line explains the pattern of inheritance in this family and that p.Ser271Leu is causing this unexpected phenotype of non-syndromic HI. Full article

Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by impairments in social abilities and communication. Studying appropriate animal models can enhance our understanding of the neural mechanisms underlying these conditions, potentially leading to improved treatment and intervention strategies. Modeling impairments in linguistic development and vocal communication caused by autism had been a challenging goal for a long time. Prenatal valproic acid (VPA) treatment has been successfully used to induce ASD-like behavioral symptoms in several vertebrate species including birds. Applying VPA-treatment on songbirds, therefore, offers a promising research paradigm to model ASD. In this study, we investigated the effect of embryonic VPA treatment on song learning in the highly social zebra finch (Taeniopygia guttata). Fertilized eggs were injected with either 0.45 µmol VPA or a saline solution on day 9 of incubation, and hatchlings were allowed to stay with their parents until day 35 post-hatching to facilitate song learning from the father. Once male offsprings reached adulthood, their songs were recorded and compared to those of their fathers. VPA-exposed males exhibited significantly greater similarity to their fathers’ songs compared to control males (74% vs. 31%, respectively), suggesting a reduced ability to modify and develop their own vocal patterns as subadults. Additionally, they showed higher entropy in their songs compared to controls (−1.4 vs. −1.7), indicating more disorganized vocalizations. These findings suggest that prenatal VPA exposure disrupts typical song learning and vocal development in zebra finches, likely by affecting neural mechanisms involved in vocal learning and crystallization of the songs. Our study suggests VPA treatment in songbirds provides a useful tool to model and investigate linguistic developmental disorders related to ASD in humans. Full article

Background/Objectives: Family assistance by adolescents (e.g., cooking, cleaning, listening to family members) is a common phenomenon. However, the impact of such assistance on adolescent development remains a topic of debate. Increasingly, the importance of adolescents’ own perceptions and interpretations is being emphasized in understanding how family assistance influences their development. Adolescents in marriage immigrant families may face unique psychosocial challenges as they support their immigrant parents. This study explores the family assistance experiences of adolescents in marriage immigrant families. Methods: Data were collected through one-on-one in-depth interviews with 10 adolescents aged 13–18 years from currently married marriage immigrant families, all of whom were born in Korea. The interviews were conducted between October and November 2022. The data were analyzed using interpretative phenomenological analysis. Results: The family assistance experiences were categorized into three main themes, namely, “Old enough to help—naturally, and rightly so”, “Foreign mother whom I naturally come to help”, and “Unavoidable family assistance, even under pressure”, and 10 subordinate themes. The adolescents provided support naturally, grounded in familial obligation and empathy toward their immigrant mothers. When the native Korean father shared the responsibilities, the assistance was not perceived as burdensome. However, diminished paternal involvement, traditional gender role expectations, and unmet emotional or academic needs led to more negative perceptions and psychological stress. Conclusions: Support systems are needed to ensure that adolescents do not assume sole responsibility for both the native father’s and the immigrant mother’s roles within marriage immigrant families. Full article

Parents provide most of the support needed for children with cerebral palsy (CP) to increase the child’s participation and independence. Understanding the experiences of parents caring for children with CP is essential for developing effective family programs and services. The current knowledge about parents’ experiences in CP is based on studies in Western countries, with little known about this phenomenon in Arab countries like Saudi Arabia. This study aimed to understand the unique experiences and support needs of Saudi parents caring for children with CP from a social-ecological perspective. We conducted a qualitative, exploratory, descriptive study involving 12 semi-structured interviews with mothers and fathers of children with different types of CP. We analyzed the data using a reflexive thematic approach, following six distinct phases. Participants’ narratives revealed a complex caregiving journey marked by both challenges and rewards. Support from Saudi nuclear and extended family members was considered important; however, many parents expressed a need for additional physical and financial assistance from their families. Parents reported feeling stressed and experiencing challenges in accessing and navigating educational and healthcare services. Our findings highlight that Islamic values play a crucial role in the experiences of Saudi parents. These values foster a sense of collectivism, highlighting the importance of family support and community involvement, which can affect the Saudi caregiving environment. Parents remain an essential yet often invisible part of the Saudi caregiving system. Without adequate support, parents are at risk of experiencing social, financial, academic, physical, and mental health challenges, which may affect their overall family well-being. Future work may need to consider spiritual and gender roles when developing programs or services to support Saudi parents of children with CP. Full article

Male reproductive aging proceeds gradually and involves complex alterations across germ cells, somatic cells, and the testicular niche. Multi-omics analyses highlight shifts in spermatogonial stem cell dynamics, diminished sperm quantity and quality, and reconfigured support from Sertoli and Leydig cells. These somatic cells show numerical declines and exhibit senescence-associated changes that amplify inflammatory signals and compromise blood–testis barrier integrity. Concurrently, fibrosis and heightened immune cell infiltration disrupt intercellular communication, contributing to further deterioration of spermatogenesis. Epigenetic remodeling—including DNA methylation drift, histone modification imbalances, and altered small non-coding RNA profiles—adds another dimension, reducing sperm integrity and potentially exerting transgenerational effects on offspring health. Observed hormonal changes, such as reduced testosterone and INSL3 production by aging Leydig cells, reflect the additional weakening of testicular function. These multifactorial processes collectively underlie the drop in male fertility and the increased incidence of adverse outcomes, such as miscarriages and developmental anomalies in the offspring of older fathers. Research into mitigation strategies, including interventions targeting senescent cells, oxidative stress, and inflammatory pathways, may slow or reverse key mechanisms of testicular aging. These findings underscore the importance of understanding the molecular hallmarks of male reproductive aging for preserving fertility and safeguarding offspring well-being. Full article

Given the critical role of fatherhood in child development and the significant challenges faced by fathers in underserved communities, there is a pressing need to better understand the specific barriers they encounter. This exploratory mixed-methods study examines the prevalence of adverse childhood experiences (ACEs) among fathers, including English, Spanish, and Creole speakers, and explores how social determinants of health exacerbate these barriers. Quantitative data were collected from June 2022–2023 using REDCap survey software. Additionally, three focus groups were conducted with 18 fathers residing in Palm Beach County (PBC), each group based on the primary language spoken at home. The focus groups were conducted in person via the Healthy Mothers Healthy Babies Coalition (HMHB) outreach team at community centers within the PBC. Stated barriers to fatherhood were thematically classified according into three main themes: (1) limited access to and knowledge of resources in the community; (2) challenges in navigating new roles, resources, and fatherhood responsibilities; and (3) important values in parenting. Over 40% of the fathers reported barriers to being involved in their child’s life. The most frequent barriers included work (35.4%) and lack of transportation distance (12.5%). Bivariate analysis using the fisher’s exact test showed a significant association between scoring greater than 4 on the ACE criteria checklist and experiencing barriers to being involved in the child’s life (p-value = 0.013). Findings from this study aim to inform the development of culturally tailored interventions that address disparities in fatherhood support, ultimately contributing to improved outcomes for both fathers and their children. Full article

Background/Objectives: Identifying the factors influencing compliance is essential to improve the effectiveness of interventions. However, no study has examined factors that influence the longitudinal patterns of obesity intervention compliance. We aim to identify the longitudinal trajectories of parental and child compliance using group-based trajectory modeling (GBTM) and assess the influencing factors. Methods: The Diet, ExerCIse, and CarDiovascular hEalth Children (DECIDE-Children) was a 9-month app-assisted obesity prevention intervention targeted 8–10-year-old children. Altogether, 684 child–parent pairs from the intervention group were included. Parents were required to use the mobile app to learn health knowledge, monitor children’s diet and exercise behaviors, manage children’s weight, and received the assessment results. Parental compliance was assessed as the monthly usage times and duration of the mobile app. For child compliance, we used data recorded by parents in the “behavior monitoring” module. We employed group-based trajectory modeling (GBTM) to identify distinct trajectories of parental and child compliance and examined their associations with childhood obesity outcomes. Univariate and multivariate logistic regressions were performed to identify the influencing factors associated with the identified compliance groups. Results: Distinct trajectory groups of parental and child compliance were identified. The compliance trajectories of parents and children are related to the extent of changes in the child’s obesity-related outcomes (waist circumference, waist-to-hip ratio, and body fat percentage. p < 0.05). A majority of parents were classified into the “relatively low compliance” group. Parents in this group was associated with having a daughter (OR: 1.95, 95% CI: 1.17, 3.31) and the father having a higher education level (OR: 1.65, 95% CI: 1.05, 2.60). For children, 20.2% were assigned to the “decreasing compliance” group. Children in this group were more likely to have a younger mother (OR: 1.05, 95% CI: 1.01, 1.10) and parents with poorer compliance (OR: 2.36, 95% CI: 1.16, 5.47). Conclusions: Both student and parental compliance were shown to influence the effectiveness of childhood obesity interventions, highlighting the need to prioritize the assessment and promotion of compliance in such interventions. Child sex, paternal educational level, and maternal age were identified as significant factors associated with compliance, while the level of family involvement was found to play a pivotal role in fostering healthy behaviors in children. These findings suggest that future intervention strategies should place greater emphasis on engaging families and providing targeted supervision and support for populations at risk of lower compliance in order to enhance intervention outcomes. Full article

Background: Split-hand/foot malformation (SHFM) is a rare congenital limb anomaly defined by the absence or hypoplasia of the central rays of the autopod. SHFM occurs as an isolated entity or part of genetic syndromes with several causative copy-number variations or monogenic alterations known to be involved in the disease pathomechanism. On the other hand, cleft lip/palate (CL/P) usually results from polygenic and environmental factors, with the complex interplay of both leading to this malformation. Pathogenic variants in FGFR1 have been linked to phenotypically distinct disorders, including Hartsfield syndrome, Kallmann syndrome, Jackson–Weiss syndrome, osteoglophonic dysplasia, and Pfeiffer syndrome. Although pathogenic variants in FGFR1 can contribute to syndromic SHFM or CL/P, their role in isolated SHFM or CL remains poorly described in the literature. Methods: We conducted targeted next-generation sequencing (NGS) in the proband with SHFM, followed by segregation analysis in the family members. Results: In this study, we report an index patient presenting with isolated SHFM and his brother with CL and facial dysmorphism, as well as their father with isolated hyposmia. Targeted next-generation sequencing revealed a previously reported heterozygous missense pathogenic variant in FGFR1 (c.830G>A; p.Cys277Tyr) in both affected siblings and their hyposmic father. Conclusions: This study expands the phenotypic spectrum associated with FGFR1 pathogenic variants, emphasizing their involvement in non-syndromic SHFM and CL or isolated hyposmia. Our findings highlight the importance of considering FGFR1 in the molecular diagnosis of isolated SHFM or orofacial clefting, point to the high intrafamilial variability of FGFR1 pathogenic variants, and demonstrate the diagnostic value of targeted NGS in rare congenital malformations. Full article

Previous research has shown that antibiotic use during the first year is associated with infants’ difficult behavior, maternal low sensitivity, and infant insecure-ambivalent attachment. However, these results may depend on the extent and type of parental involvement, paternal stress related to infant care, or the infant’s exposure to infections. To explore this question, we analyzed the relationship between these factors and examined potential predictors of antibiotic use among demographic, health, and psychological variables. This study included 62 Portuguese infants and their fathers as participants. Demographic and health information was collected at birth, 3, 9, and 12 months. Father–infant interactive behavior was observed in free play at 3 months and infant attachment in Strange Situation at 12 months. Parental Stress and Parents’ Responsibility Scales were used at 9 and 12 months, respectively. Infants who received antibiotics in the first year were less cooperative, more difficult, and less passive in free-play interactions and were more likely to attend a center-based daycare than others. In this study, the predictors of antibiotic use are infant difficultness and daycare type. Full article

Background: Overparenting describes a developmentally inappropriate and excessive parental involvement in a child’s life. It is predominantly measured in contemporary research by using emerging adults’ reports. Objective: The current study briefly reports on the adaptation and validation process of the overparenting short-form scale (OP-SF) with parents of early adolescents. The scale is among the sole instruments for evaluating overparenting within a general setting from the parental perspective. However, to date, its structure and psychometric properties remain untested among parents of pre-adults. Method: A cohort of 316 parents, including 159 mothers and 157 fathers (Mage = 44.07, SD = 5.08), provided online assessments regarding their overparenting behaviours, alongside a battery of related parental instruments used for validation. Results: The results showed that the OP-SF with three dimensions (i.e., Anticipatory Problem Solving, Affect Management, and Risk Aversion) fitted the data well, demonstrated measurement invariance across parental gender, had an acceptable internal consistency, and exhibited good convergent validity with several related constructs. Conclusions: Taken together, the 9-item OP-SF is a sound instrument for assessing a unidimensional construct of overparenting when used with parents of early adolescents. The implications for psychiatric and family practices involving parents and adolescents are discussed in depth. Full article

Hispanic adults have an increased incidence of type 2 diabetes (T2D) at a younger age and diagnosis of certain cancers, including liver, stomach, and colorectal, which may be attributed to metabolic health. Several key metabolic health indicators, such as hemoglobin A1c (HbA1c), body mass index (BMI), and waist-to-hip ratio (WHR), have been linked to obesity. The purpose of this pilot study was to explore the complex relationships between socio-behavioral factors that lead to the increased incidence of metabolic syndrome (e.g., HbA1c) and chronic inflammation (interleukins) in Hispanics. Two hundred and twelve Hispanic participants (M_age = 43.45, SD = 15.36) who identified predominantly as female (72.17%) were included in the study. Correlational analyses revealed that HbA1c was positively associated with age and negatively associated with several socio-behavioral factors, including overall health, quality of life, physical health, physical performance, social support, mother’s education, and father’s education. These findings highlight the importance of social support and parental involvement in diabetes management. The focused integration of socio-behavioral and biological data provides a powerful foundation for future research and the development of targeted interventions. Full article