Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?

OBJECTIVE: To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk of genetic abnormalities in the setting of congenital heart disease (CHD). METHODS: This was a retrospective cohort study involving pregnancies that met the following criteria: (i) prenatal diagnosis of CHD, (ii) singleton live-birth, and (iii) genetic testing was performed either pre- or postnatally. Genetic results were reviewed by a clinical geneticist for updated variant classification. Fetal growth was stratified as appropriate for gestational age (AGA) or FGR. RESULTS: Of the total of 445 fetuses that met the study criteria, 325 (73.0%) were AGA and 120 (27.0%) were FGR. Genetic abnormalities were detected in 131 (29.4%) pregnancies. There was a higher rate of genetic abnormalities (36.7% vs. 26.8%, p = 0.04), which was driven by aneuploidies (20.8% vs. 8.9%, p = 0.0006) in the FGR population. Early onset growth restriction was associated with a higher rate of genetic abnormalities (44.5% vs. 25.9%, p = 0.03). The rate of genetic abnormalities was significantly higher in the shunt category as compared to remainder of the cardiac anomalies (62.5% in shunt lesions vs. 24.7%, p < 0.00001). The rates of FGR (40.9% vs. 21.4%, p < 0.0001) and genetic abnormalities (52% vs. 20.4%, p < 0.0001) were significantly higher in the presence of extra-cardiac anomalies (ECA). CONCLUSION: The presence of FGR in fetal CHD population was associated with underlying genetic abnormalities, specifically aneuploidies. Patients should be appropriately counseled regarding the higher likelihood of a genetic condition in the presence of FGR, early onset FGR, shunt lesions and ECA.

Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

RBCK1-related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1-related disease. This study carried out a phenotypic comparison between RBCK1-related disease and GSD IV to identify features that clinically differentiate these diagnoses. Literature review and retrospective chart review identified 25 individuals with RBCK1-related disease and 36 with the neuromuscular subtype of GSD IV. Clinical features were evaluated to assess for statistically significant differences between the conditions. At a system level, any cardiac, autoinflammation, immunodeficiency, growth, or dermatologic involvement were suggestive of RBCK1, whereas any respiratory involvement suggested GSD IV. Several features warrant further exploration as predictors of RBCK1, such as generalized weakness, heart transplant, and recurrent infections, among others. Distinguishing RBCK1-related disease will facilitate correct diagnoses and pave the way for accurately identifying affected individuals, as well as for developing management recommendations, treatment, and an enhanced understanding of the natural history. This knowledge may also inform which individuals thought to have GSD IV should undergo reevaluation for RBCK1.

Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.

BACKGROUND: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray. The CSP and thymus were routinely measured during anatomical ultrasound in all patients at their initial visit at 27.1 ± 4.7 weeks. The CSP and thymus measurements were classified as abnormal if they were >95% or <5% for gestational age, respectively. The groups were compared using analysis of variance or Kruskal-Wallis for continuous variables and Fisher's exact test for categorical variables. Logistic regression was performed, and a Receiver Operating Characteristic (ROC) curve was constructed. RESULTS: We identified 47 fetuses with 22q11.2 deletion syndrome and compared them to 47 fetuses with conotruncal anomalies and normal microarray and 47 structurally normal fetuses with normal microarray. 51% (24/47) of fetuses with 22q11.2 deletion syndrome had an enlarged CSP compared to 6% (3/47) of fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). Of the fetuses with 22q11.2 deletion syndrome, 83% (39/47) had a hypoplastic or absent thymus compared to 9% (4/47) of the fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). 87% (41/47) of the fetuses with 22q11.2 deletion syndrome had conotruncal cardiac anomalies. Logistic regression revealed that both enlarged CSP and hypoplastic/absent thymus were associated with 22q11.2 deletion syndrome. The area under the ROC curve for the two markers was 0.94. CONCLUSION: An enlarged CSP and hypoplastic/absent thymus appear to be part of the fetal phenotype of 22q11.2 deletion syndrome. These markers are associated with conotruncal anomalies in the setting of 22q11.2 deletion syndrome but not in normal controls or fetuses with conotruncal defects and normal microarrays.

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.

The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to matriculation into genetic counseling training programs, students' familiarity with these topics may vary. Following receipt of feedback from trainees at a large genetic counseling program regarding an existing course focused on molecular technologies, a three-part asynchronous module series was created as a prerequisite to this course as an opportunity to align knowledge. Designed to be completed by students on their own time and at their own pace, the modules allowed for additional instruction without increases in classroom time or credit hours. Content included a refresh on genetics concepts and an introduction to available genetics resources for developing a differential diagnosis as well as variant interpretation framework. Modules utilized a clinical scenario to anchor learning with interactive content, allowing students to progress at their own pace and explore content as they found necessary. Completion of this asynchronous module series was required by incoming first-year students prior to the start of the academic semester. Following completion, students were asked to provide feedback on the module series. Reviews were primarily positive with students indicating that while the content was not entirely new, they found the review valuable and would be likely to reference the modules later in their genetic counseling training. Areas identified for improvement included additional detail regarding genetic testing methods as well as adjusting the interactive content to ensure accessibility for all students and systems. Taken together, the development and implementation of this asynchronous series as an additional component to genetic counseling training was considered a success and this approach can be considered to address additional topics dependent on a programs' needs.

The influence of licensure on ABGC certification examination outcomes.

The genetic counseling field established ABGC certification and state licensure as professional standards for practice. All current state licensure laws require passing the ABGC certification examination, although states differ in their requirements regarding how soon after graduation the examination must be taken. Graduates in states without licensure can schedule the certification examination at their preference. This study explores the influence of licensure requirements on timing to take the examination and likelihood of passing the examination. Genetic counselors who graduated between 2017 and 2021 were invited to complete a 20-question survey that included demographic information, first-time pass rates, year of graduation and the month and year they took the certification examination. Usable responses were received from 246 genetic counselors who responded to the survey, a minimum response rate of 12.9%. Participants were largely female (92.7%), white (88.6%), and almost evenly divided between those whose first job was in a state with licensure (56.3%) and one without licensure (43.7%). Those who worked in states with licensure took the examination significantly sooner than those who worked in states without licensure (p = 0.028) and were 2.4 times more likely to fail the first attempt [95% CI = 1.08-5.49]). When asked about personal preference on timing of the examination, those who "would have waited if there were no licensure requirement" were almost 7 times more likely to fail the first attempt (RR = 6.81, 95% CI = 3.10-14.97). This study identified an association between state licensure requirements, genetic counselors' timing of taking the ABGC examination, and their examination performance. The data suggest that the element of choice is an important factor in pass rates. New graduates need to be aware of state-specific licensure laws' impact on their ability to choose when to take the examination.

Paid summer undergraduate internships are one strategy to increase diversity in genetic counseling.

The genetic counseling profession has attempted to enhance the diversity of its workforce since its inception but does not yet reflect the demographics of the United States. One barrier to entry into genetic counseling programs may be the ability to gain exposure to the profession prior to applying for entry. Many applicants participate in unpaid shadowing experiences, which could be a limitation to students from underrepresented backgrounds who may be less familiar with the field or who cannot forgo a salary. To address this concern, the University of Pennsylvania Master of Science in Genetic Counseling Program developed a six-week, paid summer internship designed for undergraduates interested in genetic counseling and from underrepresented backgrounds in the field. Students were recruited via social media and word of mouth. Three undergraduates participated in the first year and four in the second year. Participants received lectures on basic topics in genetics and medical genetics, engaged in workshops and panel discussions, attended rounds and case conferences, interacted with genetic counseling mentors, and were able to shadow genetic counselors in the clinic. Benefits to the interns included enhanced appreciation for the field, development of connections with practicing genetic counselors, and development of connections with each other. The program received positive and constructive feedback and has been continued for future summers.

A disease concept model for STXBP1-related disorders.

OBJECTIVE: STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures. METHODS: We conducted semistructured, qualitative interviews with 19 caregivers of 16 individuals with STXBP1-related disorders and 7 healthcare professionals. We systematically coded themes using NVivo software and grouped concepts into the domains of symptoms, symptom impact, and caregiver impact. We quantified the frequency of concepts throughout the lifespan and across clinical subgroups stratified by seizure history and developmental trajectories. RESULTS: Over 25 hours of interviews, we coded a total of 3626 references to 38 distinct concepts. In addition to well-recognized clinical features such as developmental delay (n = 240 references), behavior (n = 201), and seizures (n = 147), we identified previously underrepresented symptoms including gastrointestinal (n = 68) and respiratory symptoms (n = 24) and pain (n = 30). The most frequently referenced symptom impacts were autonomy (n = 96), socialization (n = 64), and schooling (n = 61). Emotional impact (n = 354), support (n = 200), and daily life & activities (n = 108) were highly cited caregiver impacts. We found that seizures were more commonly referenced in infancy than in other age groups, while behavior and socialization were more likely to be referred to in childhood. We found that caregivers of individuals with ongoing seizures were less likely to reference developmental delay, possibly due to the relatively high impact of seizures. SIGNIFICANCE: STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.

Intimate Partner Violence and Child and Adolescent Cognitive Development: A Systematic Review.

Intimate partner violence (IPV) is a public health and human rights issue, with millions of children affected worldwide. While several reviews have explored the emotional-behavioural functioning of children exposed to IPV, this review aimed to examine the relationship between children's exposure to IPV and their cognitive development, and to identify associated factors such as aspects of parenting. The databases MEDLINE, PsycInfo, EMBASE, Family and Society Studies Worldwide, CINAHL, and ERIC were searched using key words related to IPV, such as domestic, family, partner, interparental, spousal, marital, violence, abuse, aggression, assault, combined with key words related to cognitive functioning, such as neuropsychological, executive, intelligence, learning, memory, and key words related to children and adolescents. A total of 38 studies met the criteria for review which included reporting an estimate of the relationship between IPV and cognition using direct assessments of cognitive functioning. Approximately 70% of studies found a relationship between IPV and poorer cognitive functioning, with general IQ the most frequently assessed domain of functioning, followed by verbal abilities and academic skills. Most studies assessed skills during early childhood, with fewer studies assessing children during middle childhood and adolescence. Results were consistent across cognitive domains and developmental stages. In terms of factors associated with IPV and cognition, a range of demographic, individual, and family factors were included, with several studies exploring mediating and moderating mechanisms. The findings suggest that IPV in childhood is associated with poorer cognitive skills across a range of domains. Implications for policy, practice and research are discussed.

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.

AIM: To summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental and epileptic encephalopathies (DEEs) through a tailored questionnaire. METHOD: A questionnaire containing 89 items addressing demographic characteristics, genetic diagnosis, clinical features, and QoL was distributed to primary caregivers of individuals with DEEs through patient advocacy organizations. Composite scores were generated from the mean values of QoL items, grouped into domain scores. RESULTS: Out of 176 received responses, the most common genetic diagnoses reported were SCN2A (n=42/173, 24%), SLC6A1 (n=28/173, 16%), SCN1A (n=22/173, 13%), and KCNQ2 (n=21/173, 12%). Composite QoL scores centered around a mean score of 61.67 of 100 (SD 17.10). QoL scores were strongly associated with the number of days minimally disrupted by seizures, medication side effects, genetic diagnosis, and community type. The mean QoL scores for individuals with DEEs was significantly lower than for individuals with Rett syndrome, cerebral palsy, autism spectrum disorder, and Down syndrome. INTERPRETATION: QoL in DEEs can be assessed through a standardized instrument. QoL only partially overlaps with objective measurements of disease severity and may represent an independent outcome measure in precision medicine trials.

Moral distress in genetic counseling: A study of North American genetic counselors.

Moral distress is the phenomenon whereby healthcare providers experience the inability to take action or act in morally appropriate ways when encountering a morally compromising situation. The correlation of moral distress to burnout and resignation in nursing and other healthcare fields has led to increasing attention and concern among healthcare professionals to identify the sources of moral distress, as well as find ways to alleviate it. An online mix-method survey was sent to NSGC members to gain information on (1) sources of moral distress, (2) emotions involved, (3) coping strategies, and (4) suggestions to alleviate it. The ProQOL 5 scale was included to measure genetic counselor compassion satisfaction, burnout, and secondary traumatic stress. Two hundred and thirteen genetic counselors from North America completed the survey. Forty-eight percent of respondents experienced moral distress and five sources were identified. The sources were situations involving other providers, family members, professional responsibility, personal beliefs, and access. Those more likely to experience moral distress worked in a prenatal setting, were over the age of 50, and worked for more than 21 years. Genetic counselors were more likely to talk to a co-worker for support, and seek social support, address the source of the problem, and sustain self through working with patients as coping strategies. Most genetic counselors recommended talking to another genetic counselor to alleviate moral distress. Moral distress did not correlate with genetic counselor burnout, but did correlate with higher levels of secondary traumatic stress (p < 0.01). Thirty-two percent of genetic counselors considered leaving their specialty, and 23% considered leaving their profession based on their experience(s) with moral distress. Our study establishes the existence of moral distress in the genetic counseling field and supports the need for coping strategies and recommendations in order to alleviate future genetic counselor moral distress.

Attitudes toward pharmacogenetics in patients undergoing CYP2C19 testing following percutaneous coronary intervention.

Aim: Patient knowledge and attitudes toward pharmacogenetic (PGx) testing may impact adoption of clinical testing. Methods: Questionnaires regarding knowledge, attitudes and ethics of PGx testing were distributed to 504 patients enrolled in the ADAPT study conducted at two urban hospitals in Philadelphia, Pennsylvania, USA. Responses were assessed using multivariable logistic regression. Results: 311 completed the survey (62% response rate). 74% were unaware of PGx testing, but 79% indicated using PGx results to predict medication efficacy was important. In a multivariable model, higher education level (p = 0.031) and greater genetics knowledge (p < 0.001) were associated with more positive attitudes toward PGx testing. Conclusion: Greater patient knowledge of genetics was associated with a more positive attitude toward PGx testing, indicating that educational strategies aimed at increasing genetics knowledge may enhance adoption of PGx testing in the clinic.

Pharmacogenetic (PGx) testing looks for genetic variations that may impact one's ability to respond to certain medications. This has the potential to improve patient care and minimize side effects from medications but is not currently used as standard of care for several reasons including a limited understanding of patient perceptions toward PGx testing. This study aimed to assess patient knowledge, attitudes and ethics of PGx testing. Questionnaires were given to patients enrolled in a clinical trial at two urban hospitals in Philadelphia, Pennsylvania, USA. In the study, patients underwent a nonsurgical procedure to open narrowed blood vessels supplying the heart muscles and were prescribed antiplatelet medications afterward. As part of study participation, some patients had undergone PGx testing to guide antiplatelet therapy following while others received standard of care (no PGx testing). We found that patients were generally not aware of PGx testing but felt it would be important information to have to guide their treatment options. Higher education levels and greater genetics knowledge were factors associated with more positive attitudes toward PGx testing. An understanding of patient perceptions, knowledge and misconceptions of PGx testing can allow healthcare professionals to better address knowledge gaps and increase the use of PGx testing in clinical settings.

A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination.

Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE®) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank-sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE® scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes.

Use of Stability Modeling to Support Accelerated Vaccine Development and Supply.

Stability assessment of pharmaceuticals in specific storage and shipment conditions is a key requirement to ensure that safe and efficacious products are administered to patients. This is particularly relevant for vaccines, with numerous vaccines strictly requiring cold storage to remain stable. When stability evaluation is exclusively based on real-time data, it may represent a bottleneck for rapid and effective vaccine access. Stability modeling for vaccines represents a key resource to predict stability based on accelerated stability studies; nevertheless, this approach is not fully exploited for these kinds of products. This is likely because of the complexity and diversity of vaccines, as well as the limited availability of dedicated guidelines or illustrative case studies. This article reports a cross-company perspective on stability modeling for vaccines. Several examples, based on the direct experience of the contributors, demonstrate that modeling approaches can be highly valuable to predict vaccines' shelf life and behavior during shipment or manipulation. It is demonstrated that modeling methodologies need to be tailored to the nature of the vaccine, the available prior knowledge, and the monitored attributes. Considering that the well-established strategies reported in ICH or WHO guidelines are not always broadly applicable to vaccines, this article represents an important source of information for vaccine researchers and manufacturers, setting the grounds for further discussion within the vaccine industry and with regulators.

The maternal health study: Study design update for a prospective cohort of first-time mothers and their firstborn children from birth to age ten.

BACKGROUND: Maternal health is critical to the health and well-being of children and families, but is rarely the primary focus of pregnancy and birth cohort studies. Globally, poor maternal health and the exposure of women and children to family violence contribute to the perpetuation and persistence of intergenerational health inequalities. OBJECTIVES: The Maternal Health Study was designed to investigate the contribution of social and obstetric risk factors to common maternal physical and psychological morbidities. Over time, our focus has expanded to include mother-child pairs and investigation of intergenerational trauma and family violence. POPULATION: A total of 1507 first-time mothers were recruited in early pregnancy from six public hospitals in Melbourne, Australia, in 2003-2005. METHODS: Women completed questionnaires or telephone interviews in early pregnancy (≤24 weeks); at 32 weeks' gestation; at three, six, nine, 12 and 18 months postpartum; and at four and ten years. At ten years, women and children were invited to participate in face-to-face interviews, which included direct assessment of children's cognitive and language development. A wide range of obstetric, social and contextual factors have been measured, including exposure to intimate partner violence (IPV) (1-year, 4-year and 10-year follow-up). RESULTS: 1507 eligible women were recruited at a mean gestation of 15 weeks. At one year, four years and ten years postpartum, 90.0%, 73.1% and 63.2% of the original cohort took part in follow-up. One in three women in the study (34.5%) reported exposure to IPV in the first ten years of motherhood: 19% in the first 12 months postpartum, 20% in the year prior to four-year follow-up and 18.3% in the year prior to ten-year follow-up. CONCLUSION: The study affords a unique opportunity to examine patterns of maternal and child health and health service use associated with exposure to IPV.

Intimate partner violence and child outcomes at age 10: a pregnancy cohort.

OBJECTIVE: Assess the mental health, physical health, cognitive and language development of 10-year old children in families where mothers have reported intimate partner violence (IPV) compared with children with no reported IPV exposure. DESIGN: Prospective pregnancy cohort. Maternal report of IPV (Composite Abuse Scale) at 1, 4 and 10 years. Maternal and direct assessment of child mental health (probable psychiatric diagnosis, anxiety and emotional/behavioural difficulties), cognition (IQ and executive function), language (general, pragmatic and receptive) and physical health at 10 years. SETTING: A subsample of 615 mother-child dyads drawn from a pregnancy cohort of 1507 nulliparous women recruited from six public hospitals in Melbourne, Australia. RESULTS: Any IPV exposure from infancy to age 10 was associated with poorer child outcomes at age 10. Specifically, twice the odds of a probable psychiatric diagnosis, emotional/behavioural difficulties, impaired language skills (general and pragmatic), and having consulted a health professional about asthma or sleep problems. IPV exposure at age 10 associated with two to three times higher odds of all mental health outcomes, elevated blood pressure and sleep problems. Early life exposure alone (at 1 and/or 4 years) associated with three times higher odds of a general language problem and asthma at age 10. CONCLUSION: The high prevalence of IPV and increased risk of poorer health and development among children exposed highlights the burden of ill health carried by children in families experiencing IPV. Fewer difficulties where exposure was limited to the early years builds the case for better identification, understanding and resourcing of effective early intervention.

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

PURPOSE: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed. METHODS: We extracted phenotypic information from primary descriptions of SCN2A-related disorders in the literature between 2001 and 2019, which we coded in Human Phenotype Ontology (HPO) terms. With higher-level phenotype terms inferred by the HPO structure, we assessed the frequencies of clinical features and investigated the association of these features with variant classes and locations within the NaV1.2 protein. RESULTS: We identified 413 unrelated individuals and derived a total of 10,860 HPO terms with 562 unique terms. Protein-truncating variants were associated with autism and behavioral abnormalities. Missense variants were associated with neonatal onset, epileptic spasms, and seizures, regardless of type. Phenotypic similarity was identified in 8/62 recurrent SCN2A variants. Three independent principal components accounted for 33% of the phenotypic variance, allowing for separation of gain-of-function versus loss-of-function variants with good performance. CONCLUSION: Our work shows that translating clinical features into a computable format using a standardized language allows for quantitative phenotype analysis, mapping the phenotypic landscape of SCN2A-related disorders in unprecedented detail and revealing genotype-phenotype correlations along a multidimensional spectrum.

Infant Regulation: Associations with Child Language Development in a Longitudinal Cohort.

OBJECTIVE: To determine whether infants who have regulatory problems (eg, sleeping, crying, and feeding problems) at 1 year of age are at increased risk of experiencing language difficulties at ages 5 and 11 years, compared with settled infants. STUDY DESIGN: Parent survey and child assessment data (n = 1131) were drawn from a longitudinal community cohort study. Latent Class Analysis identified 5 profiles of infant regulation including those who were settled (37%), had tantrums (21%), had sleep problems (25%), were moderately unsettled (13%), and severely unsettled (3%) at 12 months of age. Adjusted regression analyses examined associations between infant regulatory profiles and language ability (Clinical Evaluation of Language Fundamentals-fourth edition) at ages 5 and 11 years. RESULTS: Infants who were moderately unsettled had lower language scores at age 5 (adjusted mean difference, -3.89; 95% CI, -6.92 to -0.86) and were more likely to have language difficulties (aOR, 2.71; 95% CI, 1.28-5.75), than infants who were settled. Infants who were severely unsettled at 12 months of age, had lower language scores at ages 5 (adjusted mean difference, -7.71; 95% CI, -13.07 to -2.36) and 11 (adjusted mean difference, -6.50; 95% CI, -11.60 to -1.39), than infants who were settled. Severely unsettled infants were 5 times more likely to have language difficulties at age 5 than their settled counterparts (aOR, 5.01; 95% CI, 1.72-14.63). CONCLUSIONS: Children at 1 year of age with multiple regulatory problems are at an increased risk for poorer language skills at ages 5 and 11 years.

Children's language abilities at age 10 and exposure to intimate partner violence in early childhood: Results of an Australian prospective pregnancy cohort study.

BACKGROUND: Approximately one in four children in Australia have mothers who experience intimate partner violence (IPV). These children are at risk of poor mental health. Less is known about their language outcomes, despite evidence that childhood adversity threatens neurodevelopment, and the home environment effects language development. OBJECTIVE: This study aimed to examine the relationship between early childhood IPV exposure and language outcomes (receptive vocabulary, general language, pragmatic language) at age 10, including the influence of maternal depressive symptoms. PARTICIPANTS AND SETTING: Participants were 615 mothers and their first-born child participating in a prospective, community-based pregnancy cohort study in Melbourne. METHODS: Mothers reported their experience of IPV and depressive symptoms in the first and fourth year postpartum. At 10 years postpartum, children's receptive vocabulary was directly assessed and mothers reported on their child's general and pragmatic language skills. RESULTS: Exposure to IPV was related to scores indicating poorer abilities in receptive vocabulary (d=-0.26, p = .009), general language (d = 0.23, p = .047) and pragmatic language skills (d = 0.41, p < .001) at age 10. After adjusting for maternal depressive symptoms, evidence remained for the relationship with pragmatic language (d=-0.32, p = .006), and a trend for receptive vocabulary (d=-0.20, p = .052). CONCLUSIONS: At a community-level, children whose mothers experienced IPV during the child's first four years had poorer language skills in middle childhood than children whose mothers did not experience IPV. This is important because poor child language skills are associated with adverse outcomes across the lifespan including academic under-achievement and mental health problems. Clinical implications are discussed.

Intimate partner violence, maternal depression, and pathways to children's language ability at 10 years.

Intimate partner violence (IPV) between parents is associated with poorer child language development. This study aimed to examine pathways from IPV and maternal depressive symptoms in children's 1st year to language skills at 10 years. Pathways were examined via IPV, maternal depressive symptoms, and maternal involvement in home learning activities (e.g., reading, storytelling) at age 4. A secondary aim was to examine whether these pathways differed by child gender. Data were drawn from 1,507 mothers and their firstborn children participating in a community-based prospective longitudinal study. At child age 1 and 4 years, mothers reported IPV using the Composite Abuse Scale (CAS) and completed a depression scale. At child age 10 years, mothers completed the Children's Communication Checklist (2nd edition) Short Form and 4 pragmatic subscales, and children completed a receptive vocabulary test. Results provided some evidence that maternal depressive symptoms at 4 years postpartum may be an important mechanism by which exposure to IPV and maternal depressive symptoms in the child's 1st year is associated with poorer language at age 10. These pathways remained evident after accounting for social disadvantage, number of siblings, and concurrent IPV exposure at 10 years. There was little evidence that the pathways were mediated by maternal involvement or differed by gender. Implications for speech pathology, health, and education professionals concern identifying and supporting the language needs of children in family contexts where IPV is present. Intervention strategies for families affected by IPV such as supporting maternal mental health and the mother-child relationship could be extended to support child language development. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

Physical and mental health of women exposed to intimate partner violence in the 10 years after having their first child: an Australian prospective cohort study of first-time mothers.

OBJECTIVE: To investigate mental and physical health of mothers exposed to recent and early postpartum intimate partner violence (IPV) in the 10 years after having their first child. DESIGN: Prospective pregnancy cohort study. SETTING: Women were recruited at six metropolitan public maternity hospitals in Melbourne, Australia and followed up at 1, 4 and 10 years post partum. STUDY MEASURES: Exposure to physical and/or emotional IPV was measured using the Composite Abuse Scale at 1, 4 and 10 years. At 10-year follow-up, mothers reported on physical and mental health, and functional health status. PARTICIPANTS: 1507 first-time mothers enrolled at mean of 15 weeks' gestation. RESULTS: One in three women experienced IPV during the 10 years after having their first child. Women experiencing recent IPV (19.1%) reported worse physical and mental health than women not reporting IPV. Compared with women not reporting IPV, women experiencing recent IPV had higher odds of poor functional health status (Adj OR=4.5, 95% CI 3.2 to 6.3), back pain (Adj OR=2.0, 95% CI 1.4 to 2.9), incontinence (Adj OR=1.8, 95% CI 1.2 to 2.6), depressive symptoms (Adj OR=4.9, 95% CI 3.2 to 7.5), anxiety (Adj OR=5.1, 95% CI 3.0 to 8.6) and post-traumatic stress symptoms (Adj OR=7.2, 95% CI 4.6 to 11.1) at 10 years. Women with past IPV at 1 and/or 4 years (15.7% of the cohort) also had higher odds of physical and mental health problems. There was evidence of a gradient in health outcomes by recency of exposure to IPV. CONCLUSIONS: Both recent and past exposure to IPV are associated with poor maternal physical and mental health 10 years after a first birth. Health services and advocacy organisations providing support to women need to be aware of the consistent relationship between IPV and a range of physical and mental health conditions, which may persist even after IPV appears to have ceased.