Sleep quality relates to language impairment in children with autism spectrum disorder without intellectual disability.

OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good). We then performed a series of MANCOVAs and ANOVAs to compare the sleep quality and language skills of the two ASD clusters and the TD group. RESULTS: A main group effect (TD, "poor" cluster, and "good" cluster) was found in the total sleep quality and all its dimensions. Significant differences were revealed between the "good" and "poor" clusters in the total structural language score (F1,46 = 10.75, p < 0.001) and three of its subscales (speech: F1,46 = 9.19, p < 0.001; syntax, F1,46 = 8.61, p = 0.001; coherence: F1,46 = 11.36, p < 0.001); the total pragmatic language score (F1,46 = 7.00, p = 0.001) and three of its subscales (inappropriate initiation: F1,46 = 8.02, p = 0.001; use of context: F1,46 = 8.07, p = 0.001; nonverbal communication: F1,46 = 7.35, p = 0.001); and the social relations score (F1,46 = 9.97, p = 0.003). CONCLUSIONS: Sleep quality in children with ASD (especially a subgroup) is worse than in children with TD. There is an association between sleep quality and language skills, both at the pragmatic and structural levels.

Socio-familial environment influence on cognitive and language development in very preterm children.

BACKGROUND: Preterm children are at increased risk of cognitive and language delay compared with term-born children. While many perinatal factors associated with prematurity are well established, there is limited research concerning the influence of the socio-familial environment on the development of preterm children. This study aims to assess the relative impact of perinatal and socio-familial risk factors on cognitive and language development at 2 years corrected age (CA). METHOD: This retrospective cross-sectional study included preterm infants with a gestational age <32 weeks and/or a birth weight <1500 g, who underwent neurodevelopmental assessment at 2 years CA. Cognitive and language scores were assessed using the Bayley Scales of Infant-Toddler Development, third edition. Adjusted odds ratios (aORs) with 95% confidence intervals (CIs) were calculated using a multivariable model to examine the relationship between developmental delays and perinatal and socio-familial factors. RESULT: The prevalence of language delay was negatively associated with daycare attendance (aOR: 0.25, 95% CI: 0.07-0.85, p < 0.05) and high maternal educational levels (aOR: 0.24, 95% CI: 0.05-0.93, p < 0.05) and positively associated with bilingual environments (aOR: 5.62, 95% CI: 1.46-24.3, p < 0.05). Perinatal and postnatal risk factors did not show a significant impact on cognitive or language development. CONCLUSION: The development of language appears to be more influenced by the socio-familial environment than by early perinatal and postnatal factors associated with prematurity. These findings highlight the importance of considering socio-familial factors in the early identification and intervention of language delay among preterm children.

Language Impairment in Vascular Dementia: A Clinical Review.

Vascular cognitive impairment (VCI) encompasses a wide range of conditions, including cognitive impairment associated with stroke or vascular brain injury, mild vascular cognitive impairment, and vascular dementia (VD). Knowledge of language impairment associated with VD is far less extensive than that of Alzheimer's disease. Although not prevalent in VD, impairment in language skills has been reported. A better understanding of the neurolinguistic features associated with the different presentations of VD could facilitate medical diagnosis. In this article, we report data on language impairment in VD, with particular attention to their primary or secondary functional origin. To better appreciate this functional origin, we also outline the main characteristics of impairment in other cognitive functions. Key elements that should be considered in the speech-language assessment of individuals with possible or proven VD are also highlighted.

Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.

BACKGROUND: Early childhood life is critical for optimal development and is the foundation of future well-being. Genetic, sociocultural, and environmental factors are important determinants of child development. AIM: The objectives were to screen for suspected developmental delays (DDs) among Egyptian preschool children, and to explore the determinants of these delays based on sociodemographic, epidemiological, maternal, and child perinatal risk factors. METHODS: A national Egyptian cross-sectional developmental screening of a representative sample of preschool children (21,316 children) aged 12 to 71 months. The Revised Denver Prescreening Developmental Questionnaire (R-PDQ) followed by the Denver Developmental Screening Test, 2nd edition (DDST) was used. RESULTS: Each screened child manifested at least one of six developmental categories. Either typical development, gross motor delay (GM), fine motor adaptive delay (FMA), Language delay (L), Personal-social delay (PS), or multiple DDs. The prevalence of preschool children with at least one DD was 6.4%, while 4.5% had multiple DDs. Developmental language delay was the most prevalent, affecting 4.2% of children. The least affected domain was GM (1.9% of children). Boys were more likely to have DD than girls. Children in urban communities were more likely to have at least one DD than those in rural areas (OR = 1.28, 95%CI: 1.14-1.42), and children of middle social class than of low or high social class (OR = 1.49, 95%CI: 1.30-1.70 & OR = 1.40, 95%CI: 1.23-1.59 respectively). The strong perinatal predictors for at least one DD were children with a history of postnatal convulsions (OR = 2.68, 95%CI: 1.97-3.64), low birth weight (OR = 2.06, 95%CI: 1.69-2.52), or history of postnatal cyanosis (OR = 1.77, 95%CI: 1.26-2.49) and mothers had any health problem during pregnancy (OR = 1.73, 95%CI: 1.44-2.07). Higher paternal and maternal education decreased the odds of having any DD by 43% (OR = 0.57, 95% CI: 0.47-0.68) and 31% (OR = 0.69, 95%CI: 0.58-0.82) respectively. CONCLUSION: This study demonstrates a considerable attempt to assess the types and the prevalence of DD among preschool children in Egypt. Perinatal factors are among the most common determinants of DD in preschool children and the majority could be preventable risk factors.

The Stability and Validity of Automated Indices of Vocal Development in Infants With Autistic and Non-Autistic Siblings.

PURPOSE: This study evaluates the extent to which automated indices of vocal development are stable and valid for predicting language in infants at increased familial likelihood for autism and/or language impairment and relatively lower likelihood infants. METHOD: A group of infants with autistic siblings (Sibs-autism; 20 infants) and a comparison group of infants with non-autistic siblings (Sibs-NA; 20 infants) wore Language ENvironment Analysis (LENA) recording devices for 16 hr on 2 days within a 1-week period. Extant software was used to derive several putative indices of vocal development from these recordings. Stability of these variables was examined across and within groups. Expressive and receptive language aggregates were calculated for each participant. Multiple regression analyses were used to (a) evaluate zero-order correlations for variables derived from LENA recordings with concurrent and future language and (b) test whether those associations were moderated by group status. RESULTS: Both stability and validity differed by variable and group status. All variables reached acceptable stability in the Sibs-autism group within two to three observations, whereas stability of most variables was attenuated in the Sibs-NA group. No variables were associated with concurrent language in the theoretically motivated direction across groups, but two variables were strongly associated with concurrent expressive language in only the Sibs-NA group. Additionally, two variables were associated with later expressive language, though these correlations were again stronger in the Sibs-NA versus Sibs-autism group. CONCLUSIONS: Although selected automated indices of vocal development were stable in Sibs-autism and/or valid for predicting expressive language within Sibs-NA, no scores showed strong, theoretically motivated associations with language within the Sibs-autism group. Automated indices of vocal development may, thus, have limited validity or clinical utility for predicting language development in infants at elevated familial likelihood for autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24415735.

Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder.

BACKGROUND: It is well-documented that children with Developmental Language Disorder (DLD) have a higher likelihood of experiencing anxiety, as well as other socio-emotional and behavioural (SEB) difficulties. Despite this, there is little consensus as to how these difficulties manifest. This study aims to understand the prevalence of broader SEB difficulties and anxiety, informing intervention development by understanding the relationships between them. METHODS: A mixed-methods, case-control study was conducted. First, an online survey was completed by 107 parents of either children with DLD ("DLD sample"; n = 57) or typically developing children ("typical sample"; n = 50), aged 6-12 years old. Binary SEB statements informed by previous qualitative work (e.g. "my child requires routine/sameness"; "my child has frequent tantrums") provided an insight into the prevalence of SEB difficulties in both DLD and typical samples. Validated measures of anxiety, emotion regulation, intolerance of uncertainty, insistence on sameness, family stress and coping mechanisms were also collected. Correlation and mediation analyses were run using these validated measures to understand the manifestation of anxiety in children with DLD in more detail. Qualitative interviews were then carried out with a select panel of survey respondents (n = 4). RESULTS: The DLD sample scored significantly higher on all binary SEB statements than the typical sample: experiencing anxiety (80.7%, p < .05), requiring routine and sameness (75.4%, p < .001) and emotional dysregulation (75.4%; p < .001) were the most common difficulties reported for children with DLD. Using the validated scales, family stress and coping mechanisms were found to only correlate with the manifestation of anxiety in the typical group, not the DLD group. "Intolerance of uncertainty" and "insistence on sameness" were found to fully mediate the relationship between DLD diagnosis and symptoms of anxiety. Parent's interviews provided contextual support for the analysis, as well as highlighting sensory sensitivities as a focus for future research. CONCLUSIONS: Parents of children with DLD appear to cope well with their children's complex SEB needs. Intervention focussing on intolerance of uncertainty may help the management of difficulties with anxiety. Behaviours such as insistence on sameness should be investigated further, as potential indicators for anxiety amongst children with DLD.

Speech-in-noise perception in autistic adolescents with and without early language delay.

Speech-in-noise perception seems aberrant in individuals with autism spectrum disorder (ASD). Potential aggravating factors are the level of linguistic skills and impairments in auditory temporal processing. Here, we investigated autistic adolescents with and without language delay as compared to non-autistic peers, and we assessed speech perception in steady-state noise, temporally modulated noise, and concurrent speech. We found that autistic adolescents with intact language capabilities and not those with language delay performed worse than NT peers on words-in-stationary-noise perception. For the perception of sentences in stationary noise, we did not observe significant group differences, although autistic adolescents with language delay tend to perform worse in comparison to their TD peers. We also found evidence for a robust deficit in speech-in-concurrent-speech processing in ASD independent of language ability, as well as an association between early language delay in ASD and inadequate temporal speech processing. We propose that reduced voice stream segregation and inadequate social attentional orienting in ASD result in disproportional informational masking of the speech signal. These findings indicate a speech-in-speech processing deficit in autistic adolescents with broad implications for the quality of social communication.

The contribution of theta and delta to feedback processing in children with developmental language disorder.

PURPOSE: The study aimed at evaluating feedback processing at the electrophysiological level and its relation to learning in children with developmental language disorder (DLD) to further advance our understanding of the underlying neural mechanisms of feedback-based learning in children with this disorder. METHOD: A feedback-based probabilistic learning task required children to classify novel cartoon animals into two categories that differ on five binary features, the probabilistic combination of which determined classification. The learning outcomes' variance in relation to time- and time-frequency measures of feedback processing were examined and compared between 20 children with developmental language disorder and 25 age-matched children with typical language development. RESULTS: Children with developmental language disorder (DLD) performed poorer on the task when compared with their age-matched peers with typical language development (TD). The electrophysiological data in the time domain indicated no differences in the processing of positive and negative feedback among children with DLD. However, the time-frequency analysis revealed a strong theta activity in response to negative feedback in this group, suggesting an initial distinction between positive and negative feedback that was not captured by the ERP data. In the TD group, delta activity played a major role in shaping the FRN and P3a and was found to predict test performance. Delta did not contribute to the FRN and P3a in the DLD group. Additionally, theta and delta activities were not associated with the learning outcomes of children with DLD. CONCLUSION: Theta activity, which is associated with the initial processing of feedback at the level of the anterior cingulate cortex, was detected in children with developmental language disorder (DLD) but was not associated with their learning outcomes. Delta activity, which is assumed to be generated by the striatum and to be linked to elaborate processing of outcomes and adjustment of future actions, contributed to processing and learning outcomes of children with typical language development but not of children with DLD. The results provide evidence for atypical striatum-based feedback processing in children with DLD.

Spoken language outcomes in limited language preschoolers with autism and global developmental delay: RCT of early intervention approaches.

Preschool autistic children with significant global developmental delays and very limited language skills are at high risk for remaining minimally verbal at entry into primary school. This study compared two early intervention models for improving social communication and spoken language outcomes in 164 children who received intervention in their community preschool program for 6 months, with a six-month follow-up. The primary outcome measure was a standardized language assessment, and secondary measures focused on social communication. Results indicated children on average made 6 months gain in language development in the active 6 months of intervention with no difference between intervention models. Children who initiated joint attention more frequently, or who had higher receptive language at baseline made more progress if assigned to receive JASPER, a naturalistic developmental behavioral intervention. Children who received Discrete Trial Training made greater spoken language progress from exit to follow-up. These findings suggest that progress can be made in autistic children who have very little spoken language and who receive targeted early interventions. Individual trajectories vary and depend in part on initial abilities in social communication and receptive language. Future research might consider methods to systematically personalize approaches to fit child characteristics and family preference. LAY SUMMARY: This study compared two different early intervention approaches for teaching spoken language to minimally verbal, globally delayed autistic preschoolers. Children were given an hour of therapy daily for 6 months and then reassessed 6 months later. The majority of the 164 participants were from historically excluded populations (low income and minority), and therapy was delivered in school community settings by expert clinicians. Results indicated that the participants made significant progress regardless of intervention approach: 6 months gain in standardized language scores over 6 months, but slower progress during the period after therapy ended. Children who initiated joint attention more frequently, or who had higher language understanding at baseline made more progress if assigned to receive JASPER, a naturalistic developmental behavioral intervention. Children who received Discrete Trial Training made greater language progress during 6-month period after therapy ended. These findings suggest that progress can be made in children with ASD who have very little spoken language and who receive targeted early interventions.

Language in autism: domains, profiles and co-occurring conditions.

This article reviews the current knowledge state on pragmatic and structural language abilities in autism and their potential relation to extralinguistic abilities and autistic traits. The focus is on questions regarding autism language profiles with varying degrees of (selective) impairment and with respect to potential comorbidity of autism and language impairment: Is language impairment in autism the co-occurrence of two distinct conditions (comorbidity), a consequence of autism itself (no comorbidity), or one possible combination from a series of neurodevelopmental properties (dimensional approach)? As for language profiles in autism, three main groups are identified, namely, (i) verbal autistic individuals without structural language impairment, (ii) verbal autistic individuals with structural language impairment, and (iii) minimally verbal autistic individuals. However, this tripartite distinction hides enormous linguistic heterogeneity. Regarding the nature of language impairment in autism, there is currently no model of how language difficulties may interact with autism characteristics and with various extralinguistic cognitive abilities. Building such a model requires carefully designed explorations that address specific aspects of language and extralinguistic cognition. This should lead to a fundamental increase in our understanding of language impairment in autism, thereby paving the way for a substantial contribution to the question of how to best characterize neurodevelopmental disorders.

Structural brain abnormalities and their association with language impairment in school-aged children with Autism Spectrum Disorder.

Language impairment is comorbid in most children with Autism Spectrum Disorder (ASD) but its neural basis is poorly understood. Using structural magnetic resonance imaging (MRI), the present study provides the whole-brain comparison of both volume- and surface-based characteristics between groups of children with and without ASD and investigates the relationships between these characteristics in language-related areas and the language abilities of children with ASD measured with standardized tools. A total of 36 school-aged children participated in the study: 18 children with ASD and 18 age- and sex-matched typically developing controls. The results revealed that multiple regions differed between groups of children in gray matter volume, gray matter thickness, gyrification, and cortical complexity (fractal dimension). White matter volume and sulcus depth did not differ between groups of children in any region. Importantly, gray matter thickness and gyrification of language-related areas were related to language functioning in children with ASD. Thus, the results of the present study shed some light on the structural brain abnormalities associated with language impairment in ASD.

The significance of nonverbal performance in children with developmental language disorder.

Nonverbal deficits are frequently reported in children with developmental language disorder (DLD). In the new diagnostic criteria of DLD, the previous requirement of normal nonverbal performance has been removed and children with below average and even weak nonverbal skills now fit under the DLD definition. However, the significance of the nonverbal cognitive level, and the connection between nonverbal and verbal skills in these children diagnosed according to the new DLD classification is unclear. In the present study, the significance of nonverbal cognitive level on verbal performance was investigated among preschool-aged children with remarkable deficits in language development. Verbal skills were compared between average, below average, and weak nonverbal cognitive level groups. The connection between nonverbal and verbal skills was evaluated with Pearson correlations, and the covariance structure of the subtests used was modeled with Structural Modelling. The connection between nonverbal cognitive level and verbal skills was clear; weaker nonverbal cognitive levels were associated with lower verbal skills. While receptive language skills and verbal short-term-memory (STM) were the most profound weaknesses, relative strengths emerged for each nonverbal cognitive level group in fluid intelligence, especially in nonverbal reasoning tasks without time limits. In addition, fluid intelligence was strongly linked to verbal understanding and reasoning. These results suggest that the relative strength in nonverbal fluid intelligence with specific weaknesses in receptive language, verbal understanding, and verbal STM could be used as basic factors differentiating children with DLD from those with intellectual disability.

Structural and Pragmatic Language Impairments in Children Evaluated for Autism Spectrum Disorder (ASD).

Pragmatic language impairments are common in neurodevelopmental disorders, especially in autism spectrum disorder (ASD). The relationship between structural language skills and pragmatic competence in children with autistic symptoms, however, is largely unknown. We investigated this relationship based on the Children's Communication Checklist-2 and early language delay among children (N = 177, 19% females) clinically evaluated for ASD, differentiated into ASD (n = 148) and non-ASD (n = 29). Structural language deficits were common and associated with reduced pragmatic competence in both groups. Pragmatic language impairments were most profound in children with ASD. Early language delay and structural language deficits were less common in females. Our findings suggest that assessment of structural language skills should be included in the evaluation of children with suspected ASD.

Multidimensional motor performance in children with autism mostly remains stable with age and predicts social communication delay, language delay, functional delay, and repetitive behavior severity after accounting for intellectual disability or cognitive delay: A SPARK dataset analysis.

When motor difficulties continue into adolescence/adulthood, they could negatively impact an individual with autism spectrum disorder (ASD)'s daily living skills, physical fitness, as well as physical and mental health/well-being. Few studies have examined motor difficulties in children with ASD as a function of sex or age; however, greater cognitive challenges are associated with worse general motor performance. Based on the Developmental Coordination Disorder-Questionnaire (DCD-Q) data from the SPARK study sample, 87%-88% children with ASD were at-risk for a general motor impairment that persisted until 15 years and was related to their core and co-occurring difficulties. Bhat et al. confirmed motor difficulties in children with ASD on multiple motor dimensions that predicted core and co-occurring conditions after accounting for age and sex. However, presence of intellectual disability (ID) or cognitive delay was not controlled in the previous analysis. Additionally, the effects of age, sex, and cognitive ability on multidimensional motor difficulties of the SPARK sample have not been discussed before. Therefore, this analysis examines the effects of age, sex, and cognitive ability (presence of ID or level of cognitive delay) on the motor performance of children from the SPARK sample using the DCD-Q. Except fine motor skills, multiple motor domains did not change with age in children with ASD. Females without ID improved their fine motor scores with age, and performed better compared to males without ID. Children with ASD and ID had greater motor difficulties across multiple motor domains than those without ID. Even after controlling for age, sex, and presence of ID/cognitive delay; motor performance was predictive of social communication skills, repetitive behavior severity, as well as language and functional delays. Gross motor skills contributed more than fine motor and general motor competence skills in predicting social communication delay. However, fine motor and general motor competence skills contributed more than gross motor skills in predicting repetitive behavior severity and language delay. Both, fine and gross motor skills predicted functional delay. In light of consistent findings on motor difficulties in children with ASD, adding motor issues as a specifier within the ASD definition could provide a clear clinical route for movement clinicians to address motor difficulties of individuals with ASD.

Task-based profiles of language impairment and their relationship to cognitive dysfunction in Parkinson's disease.

OBJECTIVE: Parkinson's Disease (PD) is associated with both motor and non-motor problems, such as cognitive impairment. Particular focus in this area has been on the relationship between language impairment and decline in other cognitive functions, with the literature currently inconclusive on how the nature and degree of language impairment relate to cognition or other measures of disease severity. In addition, little information is available on how language problems identified in experimental task set-ups relate to competency in self-generated language paradigms such as picture description, monologues or conversations. This study aimed to inform clinical management of language impairment in PD by exploring (1) language performance across a range of experimental as well as self-generated language tasks, (2) how the relationship between these two aspects might be affected by the nature of the cognitive and language assessment; and (3) to what degree performance can be predicted across the language tasks. METHODS: 22 non-demented people with PD (PwPD) and 22 healthy control participants performed a range of cognitive and language tasks. Cognitive tasks included a screening assessment in addition to tests for set shifting, short term memory, attention, as well as letter and category fluency. Language was investigated in highly controlled grammar tasks as well as a Sentence Generation and a Narrative. RESULTS: The study highlighted impaired ability in set-shifting and letter fluency in the executive function tasks, and a higher rate of grammatical and lexical errors across all language tasks in the PD group. The performance in the grammar task was linked to set shifting ability, but error rates in Sentence Generation and Narrative were independent of this. There was no relevant relationship between performances across the three language tasks. CONCLUSIONS: Our results suggest that there is a link between executive function and language performance, but that this is task dependent in non-demented PwPD. This has implications for the management of language impairment in PD, both for assessment and for designing effective interventions.

Treating Concomitant Language and/or Phonology Impairment in Children Who Stutter.

Stuttering can co-occur with phonological and/or language impairment in a nontrivial number of children. This article provides a framework for addressing concomitant phonology/language impairment and stuttering through the application of the World Health Organization's International Classification of Functioning, Disability and Health (ICF) framework. Described is a multifactorial approach to understanding stuttering, the application of the ICF to treating children who stutter with concomitant disorders, and models for structuring-related therapy. A case study is explored to illustrate this process and includes a sample treatment plan with goals, short-term objectives, and sample activities.

The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.

BACKGROUND: Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is not often carefully phenotyped in neurodevelopmental disorders. In this paper, we argue that such deep phenotyping, defined as phenotyping that is specific to speech production and not conflated with language or cognitive ability, is vital if we are to understand how genetic variations affect the brain regions that are associated with spoken language. Speech is distinct from language, though the two are related behaviorally and share neural substrates. We present a brief taxonomy of developmental speech production disorders, with particular emphasis on the motor speech disorders childhood apraxia of speech (a disorder of motor planning) and childhood dysarthria (a set of disorders of motor execution). We review the history of discoveries concerning the KE family, in whom a hereditary form of communication impairment was identified as childhood apraxia of speech and linked to dysfunction in the FOXP2 gene. The story demonstrates how instrumental deep phenotyping of speech production was in this seminal discovery in the genetics of speech and language. There is considerable overlap between the neural substrates associated with speech production and with FOXP2 expression, suggesting that further genes associated with speech dysfunction will also be expressed in similar brain regions. We then show how a biologically accurate computational model of speech production, in combination with detailed information about speech production in children with developmental disorders, can generate testable hypotheses about the nature, genetics, and neurology of speech disorders. CONCLUSIONS: Though speech and language are distinct, specific types of developmental speech disorder are associated with far-reaching effects on verbal communication in children with neurodevelopmental disorders. Therefore, detailed speech phenotyping, in collaboration with experts on pediatric speech development and disorders, can lead us to a new generation of discoveries about how speech development is affected in genetic disorders.

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay.

AIM: The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism-related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin-associated protein-like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear. METHODS: We included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse-grained exact matching. RESULTS: We present the first evidence of an association between CNTNAP2 rs2710102 (A-allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A-allele carriers had lower receptive language ability, but the difference was non-significant. CONCLUSIONS: It is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism-related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD.

Relation between acquisition of lexical concept and joint attention in children with autism spectrum disorder without severe intellectual disability.

In children with autism spectrum disorder (ASD), impairment of joint attention and language function are observed frequently from early childhood. Earlier reports have described these two phenomena as mutually related. For this study, developing past research, the relation between joint attention and the ability of conceptual inference is examined in 113 Japanese children (67.9 months mean age, 75% male) with ASD. We calculated Pearson's correlation coefficients between their Joint attention abnormality evaluated by ADOS-2 and "Riddle" subscale in K-ABC, then they are negatively correlated: r (104) = -.285. A larger abnormality of joint attention is associated with a lower ability of conceptual inference. New findings were obtained indicating that, in children of this age group with ASD, the degree of joint attention impairment is correlated negatively with conceptual inference ability, but not with expressive and receptive language abilities. Consideration of the mechanism of this relation is presented in this report.

A further study of relations between motor impairment and social communication, cognitive, language, functional impairments, and repetitive behavior severity in children with ASD using the SPARK study dataset.

Motor impairments are pervasive and persistent in children with autism spectrum disorder (ASD) throughout childhood and adolescence. Based on recent studies examining motor impairments in children with ASD between 5 and 15 years (i.e., SPARK study sample), 87-88% of this population is at-risk for a motor impairment, these problems persisted until 15 years, and related to their core (social communication skills and repetitive behaviors [RBs]) and comorbid (language, cognitive, and functional) impairments. Persistent motor impairments extending into adolescence/adulthood could negatively impact their independent daily living skills, physical fitness/activity levels, and physical/mental health. While multiple studies have examined relations between motor dimensions and core/comorbid impairments in young children with ASD, few studies have examined such relations in school-age children/adolescents with ASD. This paper conducts a further multidimensional study of which motor domains (i.e., gross-motor including visuo-motor or multilimb coordination/planning, fine motor [FM] or general coordination [GC] skills) best distinguish subgroups of school-age children/adolescents with ASD and help predict core and comorbid impairments after accounting for age and sex. Visuomotor, FM and certain GC skills were better at explaining variations in/predicting social communication impairments whereas FM skills were slightly better at explaining variations in/predicting RB severity. Multilimb coordination/planning and FM skills explained variations in/predicted cognitive delays whereas visuomotor and FM skills explained variations in and better predicted language delays. All three motor dimensions explained variations in/predicted functional delays. This study provides further evidence for inclusion of motor impairments within the ASD definition (criteria or specifiers). LAY SUMMARY: Gross-motor skills were related to social communication and functional delays of children with ASD (visuomotor skills related to language delays and multilimb coordination/planning skills related to cognitive delays). Fine-motor skills were related to repetitive behavior severity, language, cognitive, and functional delays in ASD. Diagnosticians should recommend systematic motor screening, further evaluations, and treatments for children at-risk for and diagnosed with ASD. Motor advocacy and enhanced public/clinical community awareness is needed to fulfill the unmet motor needs of children with ASD.