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Purpose: Young people with developmental language disorder (DLD) have poorer mental health than those without DLD. However, not all young people with DLD are equally affected; some have more mental health difficulties than others. What explains these differences remains unclear. Method: Data from a community cohort study, the Avon Longitudinal Study of Parents and Children, were analyzed to investigate genetic and environmental influences on the development of mental health difficulties at five time points from childhood (7 years) to adolescence (16 years) in 6,387 young people (8.7% with DLD). Regression and latent class models were fitted to the data. Results: Polygenic scores (PGSs), indices of genetic risk, for common psychiatric disorders (major depressive disorder, anxiety disorder, and attention deficit hyperactivity disorder) predicted mental health difficulties in both groups (with and without DLD). The presence of DLD, in some instances, amplified mental health difficulties for those with high genetic risk for common psychiatric disorders. Subgroups of children with similar developmental trajectories of mental health difficulties were identified. Young people with DLD were more likely than those without DLD to follow mental health subgroups characterized by consistently high levels of difficulties during development. PGSs, socioeconomic status, and the early home environment distinguished subgroups with low mental health difficulties from those characterized by high levels of difficulties, but these effects did not differ based on DLD status. Conclusions: These findings suggest that, for the most part, both genetic and environmental risk affect the development of mental health difficulties in a cumulative way for young people with DLD (and those without). Some analysis did, however, suggest that genetic risk for common psychiatric disorders might manifest more strongly in those with DLD compared with those without DLD.

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies. Non-right-handedness (NRH) frequency was assessed in N = 2503 cases with reading and/or language impairment and N = 4316 sex-matched controls identified from 10 distinct cohorts (age range 6-19 years old; European ethnicity) using a priori set criteria. A meta-analysis (N[subscript cases] = 1994) showed elevated NRH % in individuals with language/reading impairment compared with controls (OR = 1.21, CI = 1.06-1.39, p = 0.01). The association between reading/language impairments and NRH could result from shared pathways underlying brain lateralization, handedness, and cognitive functions.

Objective: To report how improvements on a Brazilian language intervention for early childhood education settings (PROLIN) were made and evaluated. Study Design: In the first phase, the programme layout and materials were improved. This involved redesigning the guidelines for the programme, adding videos (using a learning management system) and creating an observation checklist to monitor the fidelity of implementation. The second phase was a two-week pilot study (a seven-session intervention) involving two teachers and 22 students. Checklists and video footage were analysed to investigate implementation. Results: Quality of implementation was generally good, but we identified additional areas for improvement. Teachers had some difficulties with aspects related to session dynamics, implementation of activities and use of techniques that reinforce learning. Conclusions: The pilot study was instrumental in identifying obstacles for a scaled-up, high-quality implementation. The design of these materials took into consideration ways of guiding and supporting teachers to: (1) offer students adequate participation time; (2) help include children who are shy or have behaviour problems; (3) use teaching strategies properly; (4) bring sessions to a close; and (5) reach the objectives of each session. Further modification is still needed, especially in the manual, videos and supplementary materials.

The negative health effects of cigarette smoking during pregnancy (SDP) on the foetus are well known. Despite previous reports of poor cognitive performance in offspring exposed to SDP, few studies specifically consider language outcomes according to maternal smoking. In this study, we systematically review the literature to assess the relationships between SDP and child language. Of the 14 studies reviewed, 13 (93%) reported significant associations between maternal smoking or exposure and language outcomes. Despite this consistent association, only 8 of the 13 studies reporting associations (62%) concluded direct relationships between exposure and outcome. The remaining studies suggested that the relationship between smoking and language could be explained by factors such as maternal IQ, socioeconomic status (SES) and parental age. Future studies should apply careful study designs allowing for confounding factors across child, parental, environmental and genetic influences. Our review suggests that smoking cessation is likely to positively affect child language outcomes.

Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.

The quality of a child's early language and communication environment (ELCE) is an important predictor of later educational outcomes. However, less is known about the routes via which these early experiences influence the skills that support academic achievement. Using data from the Avon Longitudinal Study of Parents and Children (n = 7,120) we investigated relations between ELCE (<2 years), literacy and social adjustment at school entry (5 years), structural language development and social development in mid-primary school (7-9 years), and literacy outcomes (reading and writing) at the end of primary school (11 years) using structural equation modelling. ELCE was a significant, direct predictor of social adjustment and literacy skills at school entry and of linguistic and social competence at 7-9 years. ELCE did not directly explain variance in literacy outcomes at the end of primary school, instead the influence was exerted via indirect paths through literacy and social adjustment aged 5, and, language development and social development at 7-9 years. Linguistic and social skills were both predictors of literacy skills at the end of primary school. Findings are discussed with reference to their potential implications for the timing and targets of interventions designed to improve literacy outcomes.

Background: Children with developmental language disorder (DLD) are at higher risk of poorer mental health compared with children without DLD. There are, however, considerable individual differences that need to be interpreted, including the identification of protective factors. Aims: Pathways from the early language and communication environment (ELCE, 1-2 years) to internalizing (peer and emotional problems) and externalizing (conduct problems and hyperactivity) problems in middle childhood (11 years) were mapped using structural equation modelling. Specifically, the role of indirect pathways via social skills (friendships, play and prosociality) in childhood (7-9 years) was investigated. Methods & Procedures: Secondary analysis of existing data from the Avon Longitudinal Study of Parents and Children (ALSPAC) was undertaken. The study sample consisted of 6531 children (394 with DLD). Outcomes & Results: The pathways from the ELCE to internalizing and externalizing problems were similar for children with and without DLD. For both groups, a positive ELCE was associated with more competent social play and higher levels of prosociality in childhood, which in turn were associated with fewer externalizing problems in middle childhood. Furthermore, better friendships and higher levels of prosociality in childhood were both associated with fewer internalizing problems in middle childhood. Conclusions & Implications: A child's ELCE is potentially important not only for the development of language but also for social development. Furthermore, in the absence of adequate language ability, play and prosocial behaviours may allow children with DLD to deploy, practise and learn key social skills, thus protecting against externalizing problems. We suggest that consideration be given to play- and prosociality-based educational and therapeutic services for children with DLD.

Purpose: Children with poor language tend to have worse psychosocial outcomes compared to their typically developing peers. The most common explanations for such adversities focus on developmental psychological processes whereby poor language triggers psychosocial difficulties. Here, we investigate the possibility of shared biological effects by considering whether the same genetic variants, which are thought to influence language development, are also predictors of elevated psychosocial difficulties during childhood. Method: Using data from the U.K.-based Avon Longitudinal Study of Parents and Children, we created a number of multi-single-nucleotide polymorphism polygenic profile scores, based on language and reading candidate genes ("ATP2C2," "CMIP," "CNTNAP2," "DCDC2," "FOXP2," and "KIAA0319," 1,229 single-nucleotide polymorphisms) in a sample of 5,435 children. Results: A polygenic profile score for expressive language (8 years) that was created in a discovery sample (n = 2,718) predicted not only expressive language (8 years) but also peer problems (11 years) in a replication sample (n = 2,717). Conclusions: These findings provide a proof of concept for the use of such a polygenic approach in child language research when larger data sets become available. Our indicative findings suggest consideration should be given to concurrent intervention targeting both linguistic and psychosocial development as early language interventions may not stave off later psychosocial difficulties in children.

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 × 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.

Background: It has been reported that the inhabitants of the Chilean Robinson Crusoe Island have an increased frequency of specific language impairment (SLI) or developmental language disorder (DLD). Aims: To explore the familial aggregation of DLD in this community. Methods & Procedures: We assessed the frequency of DLD amongst colonial children between the ages of 3 and 8;11 years (50 individuals from 45 nuclear families). Familial aggregation rates of language disorder were calculated by assessing all available first-degree relatives (n = 107, 77 parents, 25 siblings, five half-siblings) of the probands. Outcomes & Results: We found that 71% of the child population performed significantly below expected in measures of phonological production or expressive and receptive morphology. The majority of these children presented with severe expressive and/or receptive language difficulties. One-quarter of language-disordered probands primarily had phonological difficulties. Family members of affected probands experienced a higher risk of language disorder than those of typically developing probands. This increased risk was apparent regardless of non-verbal IQ. Conclusions & Implications: The study substantiates the existence of a familial form of speech and language disorder on Robinson Crusoe Island. Furthermore, we find that the familiarity is stable regardless of non-verbal IQ, supporting the recent movement to reduce the importance of non-verbal IQ criterion in DLD diagnoses.

The ability to finely control our movement is key to achieving many of the educational milestones and life-skills we develop throughout our lives. Despite the centrality of coordination to early development, there is a vast gap in our understanding of the underlying biology. Like most complex traits, both genetics and environment influence motor coordination, however, the specific genes, early environmental risk factors and molecular pathways are unknown. Previous studies have shown that about 5% of school-age children experience unexplained difficulties with motor coordination. These children are said to have Developmental Coordination Disorder (DCD). For children with DCD, these motor coordination difficulties significantly impact their everyday life and learning. DCD is associated with poorer academic achievement, reduced quality of life, it can constrain career opportunities and increase the risk of mental health issues in adulthood. Despite the high prevalence of coordination difficulties, many children remain undiagnosed by healthcare professionals. Compounding under-diagnosis in the clinic, research into the etiology of DCD is severely underrepresented in the literature. Here we present the first genome-wide association study to examine the genetic basis of early motor coordination in the context of motor difficulties. Using data from the Avon Longitudinal Study of Parents and Children we generate a derived measure of motor coordination from four components of the Movement Assessment Battery for Children, providing an overall measure of coordination across the full range of ability. We perform the first genome-wide association analysis focused on motor coordination (N = 4542). No single nucleotide polymorphisms (SNPs) met the threshold for genomewide significance, however, 59 SNPs showed suggestive associations. Three regions contained multiple suggestively associated SNPs, within five preliminary candidate genes: IQSEC1, LRCC1, SYNJ2B2, ADAM20, and ADAM21. Association to the gene IQSEC1 suggests a potential link to axon guidance and dendritic projection processes as a potential underlying mechanism of motor coordination difficulties. This represents an interesting potential mechanism, and whilst further validation is essential, it generates a direct window into the biology of motor coordination difficulties. This research has identified potential biological drivers of DCD, a first step towards understanding this common, yet neglected neurodevelopmental disorder. [ABSTRACT FROM AUTHOR]

Recent studies have highlighted a role for trace elements and toxic metals across neurodevelopmental disorders, including developmental stuttering, Autistic Spectrum Disorders (ASD), and Attention Deficit/Hyperactivity Disorder (ADHD). However, these environmental influences have yet to be explored in relation to Developmental Language Disorder (DLD). Elemental hair composition of seven elements; zinc (64Zn), magnesium (26Mg), iron (57Fe), potassium (39K), aluminum (27Al), lead (208Pb), and barium (138Ba) were analyzed in hair samples from 35 children affected by DLD and 35 controls with typical language development (TLD) using both inductive coupled plasma optical emission spectroscopy (ICP–OES) and inductive coupled plasma mass spectroscopy (ICP–MS). The concentration of 64Zn was significantly lower in the hair of DLD group compared to the TLD control group. All other elements showed similar levels between cases and controls. This pilot study demonstrates the utility of trace elements and toxic metals screening in relation to language disorders and the use of hair samples in such investigations. The finding that zinc levels differed between cases and controls could represent a clinically relevant result and should be replicated in larger sample size across time. A wider battery of related elements will help to better understand the role of trace elements and toxic metals in DLD. [ABSTRACT FROM AUTHOR]

A high-density screen of SLI1region of chromosome 16q associated with phonological short-term memory in the specific language impairment (SLI) developmental disorder is conducted to identify its causative genes. Results suggest that variants in CMIP, a gene encoding c-maf-inducing protein and ATP2C2, a gene encoding calcium-transporting ATPase, type 2C, member2 protein, located in the SLI1 region modulate phonological short-term memory in SLI.

A study was conducted to establish the relationship between the FOXP2 gene and the development of speech and language disorders. Results indicate that the FOXP2-CNTNAP2 does provide a link to speech and language defects.