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.

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.

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.

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.

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.

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.

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.

Hinduism and reproductive decision-making: Karma, Samsara, and the in-between.

Investigations of the role of religious philosophy in reproductive decision-making has exclusively focused on Abrahamic traditions. However, those who practice Eastern religions, such as Hinduism, represent an increasing proportion of the population in the United States and may present for prenatal care. Here, we consider tenets of Hindu philosophy as they may pertain to decision-making surrounding women's pregnancy termination. Such tenets include the cycle of rebirth (samsara), karma, dharma, Hindu writing, and the multivalent nature of Hindu philosophy. Through this brief communication we hope to present a starting point for further exploration which will increase cultural competency of genetic counselors while enhancing awareness of variations of religious beliefs patients may hold.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

PURPOSE: We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain. METHODS: Participation was via an anonymous REDCap survey, which consisted of sociodemographic questions followed by the brief pain inventory-short form (BPI-SF), patient health questionnaire-8 (PHQ-8), and generalized anxiety disorder-7 (GAD-7) questionnaires. These assessed pain, depression, and anxiety respectively. RESULTS: Of the 336 usable responses, 16.1% scored 10 or greater on the PHQ-8 consistent with current depression while 17.3% scored 10 or greater on the GAD-7 consistent with current anxiety. The majority of participants (76.2%) experienced pain, which was significantly associated with prior mental health diagnoses (p < 0.05). A total of 34% reported either a prior diagnosis of depression or scored 10 or greater on the PHQ-8, and 31% reported either a prior diagnosis of anxiety or scored 10 or greater on the GAD-7. CONCLUSIONS: This study identified a substantial percentage of individuals with mental health concerns as well as pain in the adult skeletal dysplasia population. Further research is warranted to investigate barriers to service or treatment of mental health disorders as well as pain management.

Associations between early maternal behaviours and child language at 36 months in a cohort experiencing adversity.

BACKGROUND: Variations in parenting, more specifically less responsive and more directive parenting, contribute to language difficulties for children experiencing adversity. Further investigation of associations between specific responsive and directive behaviours and child language is required to understand how behaviours shape language over time within different populations. As language is dyadic, further exploration of how mother-child interactions moderate associations is also important. AIMS: To investigate associations between specific responsive and directive maternal behaviours, the quality of mother-child interaction (fluency and connectedness) and child language in a cohort experiencing adversity. METHODS & PROCEDURES: Pregnant women experiencing adversity were recruited from maternity hospitals in Australia. At 12 months, videos of mother-infant free play were collected. Videos were coded for maternal behaviours and fluency and connectedness (n = 249). At 36 months, child language was measured using a standardized language test. Linear regression models were used to examine associations and the moderating role of fluency and connectedness was explored. OUTCOMES & RESULTS: Responsive yes/no questions were positively associated with language scores. Unsuccessful redirectives were negatively associated with language scores. The moderation effect of fluency and connectedness was equivocal in the current data. CONCLUSIONS & IMPLICATIONS: Findings reproduce and extend previous research highlighting key features of mother-child interactions associated with child language trajectories. Findings also augment knowledge of risk and protective factors related to language for children experiencing adversity and highlight where targeted interventions might be successful.

A First Implementation of Underwater Communications in Raw Water Using the 433 MHz Frequency Combined with a Bowtie Antenna.

In 2016, there were 317 serious water pollution incidents in the UK, with 78,000 locations where businesses discharge controlled quantities of pollutants into rivers; therefore, continuous monitoring is vital. Since 1998, the environment agency has taken over 50 million water samples for water quality monitoring. The Internet of Things has grown phenomenally in recent years, reaching all aspects of our lives, many of these connected devices use wireless sensor networks to relay data to internet-connected nodes, where data can be processed, analyzed and consumed. However, Underwater wireless communications rely mainly on alternative communication methods such as optical and acoustic, with radio frequencies being an under-exploited method. This research presents real world results conducted in the Leeds and Liverpool Canal for the novel use of the 433 MHz radio frequency combined with a bowtie antenna in underwater communications in raw water, achieving distances of 7 m at 1.2 kbps and 5 m at 25 kbps.

Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.

Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n = 344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n = 110/397) have visited a patient's social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n = 43/56). Thirty-three percent (n = 130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n = 114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.

Language and social-emotional and behavioural wellbeing from 4 to 7 years: a community-based study.

Language disorder (LD) and social-emotional and behavioural (SEB) difficulties are common childhood problems that often co-occur. While there is clear evidence of these associations from clinical samples, less is known about community samples. This paper examines these associations in children aged 4-7 years from a community-based longitudinal study. 771 families provided questionnaire and assessment data at 4, 5 and 7 years. Parent-reported SEB difficulties were measured at each point (SDQ). Child language was directly assessed at 4 (CELF-P2), 5 and 7 years (CELF-4). Linear regression analysis was used to compare cross-sectional differences in mean SDQ scores between children with and without LD at each time point. Linear regression was then used to examine how patterns of language development (language disordered at three time points; never disordered; disordered at one or two time points, i.e. 'unstable' group) related to SEB difficulties at each age, adjusted for potential confounders, as in the previous analyses. Higher hyperactivity/inattention scores were associated with LD at each age. In fully adjusted models, there was little difference in mean emotional symptoms scores between children with and without LD. The 'never' LD group had lower mean SDQ scores at each time point than the 'unstable' group. Findings highlight that children with persistent LD from preschool to early primary school may be more likely to have concomitant SEB difficulties, particularly behavioural difficulties. Those with unstable LD may also have co-occurring SEB difficulties, showing a need for education and health professionals to monitor early language and SEB development.

Maternal communicative behaviours and interaction quality as predictors of language development: findings from a community-based study of slow-to-talk toddlers.

BACKGROUND: Identifying risk and protective factors for language development informs interventions for children with developmental language disorder (DLD). Maternal responsive and intrusive communicative behaviours are associated with language development. Mother-child interaction quality may influence how children use these behaviours in language learning. AIMS: To identify (1) communicative behaviours and interaction quality associated with language outcomes; (2) whether the association between a maternal intrusive behaviour (directive) and child language scores changed alongside a maternal responsive behaviour (expansion); and (3) whether interaction quality modified these associations. METHODS & PROCEDURES: Language skills were assessed at 24, 36 and 48 months in 197 community-recruited children who were slow to talk at 18 months. Mothers and 24-month-olds were video-recorded playing at home. Maternal praise, missed opportunities, and successful and unsuccessful directives (i.e., whether followed by the child) were coded during a 10-min segment. Interaction quality was rated using a seven-point fluency and connectedness (FC) scale, during a 5-min segment. Linear regressions examined associations between these behaviours/rating and language scores. Interaction analysis and simple slopes explored effect modification by FC. OUTCOMES & RESULTS: There was no evidence that missed opportunities or praise were associated with language scores. Higher rates of successful directives in the unadjusted model and unsuccessful directives in the adjusted model were associated with lower 24-month-old receptive language scores (e.g., unsuccessful directives effect size (ES) = -0.41). The association between unsuccessful directives and receptive language was weaker when adjusting for co-occurring expansions (ES = -0.34). Both types of directives were associated with poorer receptive and expressive language scores in adjusted models at 36 and 48 months (e.g., unsuccessful directive and 48-month receptive language, ES = -0.66). FC was positively associated with 24-, 36- and 48-month language scores in adjusted models (e.g., receptive language at 24 months, ES = 0.21, at 48 months, ES = 0.18). Interaction analysis showed the negative association between successful directives and 24-month receptive language existed primarily in poorly connected dyads with low FC levels. CONCLUSIONS & IMPLICATIONS: These findings illustrate the effects of the combined interaction between different maternal communicative behaviours and features of the interaction itself on child language development, and the need to consider both in research and practice. Whilst more intrusive directives were associated with poorer language scores, this association attenuated when adjusting for co-occurring responsive expansions, and the association was strongest for children in lower quality interactions. This work may inform clinical practice by helping clinicians target the most appropriate communicative behaviours for specific mother-child dyads.

Quality of life in children with developmental language disorder.

BACKGROUND: Developmental language disorder (DLD) is common in children, but little is known about its association with quality of life (QoL) in middle childhood. QoL is a complex construct, aligning with an individual's sense of well-being and is related to functional limitations associated with DLD. Biopsychosocial models of disability account for both the extent and functional limitations of the impairment; however, the DLD literature rarely reports on both aspects. Studies are required that detail QoL in children with and without DLD. AIMS: To investigate the association between DLD, identified at 4 years and persisting at 7 years, and QoL over 4, 7 and 9 years; to compare QoL for children whose DLD was mild to moderate and severe at 7 years; and to investigate how variables known to impact on language development (e.g., maternal vocabulary), as well as social-emotional behaviours at 4 and 7 years contribute to QoL at 9 years. METHODS & PROCEDURES: The analyses included 872 children who participated in the 4-, 7- and 9-year data collection of the Early Language in Victoria Study (ELVS). We compared the parent-reported QoL profiles at 4, 7 and 9 years for children with and without DLD, and those with mild to moderate and severe DLD using the Pediatric Quality of Life Inventory (PedsQL). We conducted regression analyses to estimate how child, family and environmental factors predicted QoL at 9 years, including social-emotional behaviours measured using the Strengths & Difficulties Questionnaire (SDQ) at 4 and 7 years. OUTCOME & RESULTS: Children with DLD (n = 70) had lower parent-reported QoL at 9 years than typically developing children (n = 802), with mean scores of 74.9 and 83.9 respectively. There was no evidence of differences in QoL between those with severe (n = 14) or mild to moderate (n = 56) DLD. In contrast to their peers, children with DLD had a profile of declining QoL between 4 and 9 years. For all children, language skills at 7 years predicted QoL at 9 years. For children with DLD, emotional symptoms and peer problems at 4 years plus SDQ Total Difficulties at 7 years were predictive of lower QoL at 9 years. CONCLUSIONS & IMPLICATIONS: Children with DLD had a lower QoL than their typical peers at 9 years and, contrary to previous studies, differences in QoL were not observed with DLD severity. Co-occurring social-emotional problems appear to play an important role in contributing to the lower QoL experienced by children with DLD. Consideration of associated functional limitations is required to support the communication and social development of all young children with DLD.