Mobile device screen time is associated with poorer language development among toddlers: results from a large-scale survey.

BACKGROUND: Despite young children's widespread use of mobile devices, little research exists on this use and its association with children's language development. The aim of this study was to examine the associations between mobile device screen time and language comprehension and expressive language skills. An additional aim was to examine whether three factors related to the domestic learning environment modify the associations. METHODS: The study uses data from the Danish large-scale survey TRACES among two- and three-year-old children (n = 31,125). Mobile device screen time was measured as time spent on mobile devices on a normal day. Measurement of language comprehension and expressive language skills was based on subscales from the Five to Fifteen Toddlers questionnaire. Multivariable linear regression was used to examine the association between child mobile device screen time and language development and logistic regression to examine the risk of experiencing significant language difficulties. Joint exposure analyses were used to examine the association between child mobile device screen time and language development difficulties in combination with three other factors related to the domestic learning environment: parental education, reading to the child and child TV/PC screen time. RESULTS: High mobile device screen time of one hour or more per day was significantly associated with poorer language development scores and higher odds for both language comprehension difficulties (1-2 h: AOR = 1.30; ≥ 2 h: AOR = 1.42) and expressive language skills difficulties (1-2 h: AOR = 1.19; ≥ 2 h: AOR = 1.46). The results suggest that reading frequently to the child partly buffers the negative effect of high mobile device screen time on language comprehension difficulties but not on expressive language skills difficulties. No modifying effect of parental education and time spent by the child on TV/PC was found. CONCLUSIONS: Mobile device screen time of one hour or more per day is associated with poorer language development among toddlers. Reading frequently to the child may have a buffering effect on language comprehension difficulties but not on expressive language skills difficulties.

Universal and Language-Specific Connected Speech Characteristics of Bilingual Speakers With Alzheimer's Disease: Insights From Case Studies of Structurally Distinct Languages.

PURPOSE: Connected speech analysis has been effectively utilized for the diagnosis and disease monitoring of individuals with Alzheimer's disease (AD). Existing research has been conducted mostly in monolingual English speakers with a noticeable lack of evidence from bilinguals and non-English speakers, particularly in non-European languages. Using a case study approach, we characterized connected speech profiles of two Bengali-English bilingual speakers with AD to determine the universal features of language impairments in both languages, identify language-specific differences between the languages, and explore language impairment characteristics of the participants with AD in relation to their bilingual language experience. METHOD: Participants included two Bengali-English bilingual speakers with AD and a group of age-, gender-, education-, and language-matched neurologically healthy controls. Connected speech samples were collected in first language (L1; Bengali) and second language (L2; English) using a novel storytelling task (i.e., Frog, Where Are You?). These samples were analyzed using an augmented quantitative production analysis and correct information unit analyses for productivity, fluency, syntactic and morphosyntactic features, and lexical and semantic characteristics. RESULTS: Irrespective of the language, AD impacted speech productivity (speech rate and fluency) and semantic characteristics in both languages. Unique language-specific differences were noted on syntactic measures (reduced sentence length in Bengali), lexical distribution (fewer pronouns and absence of reduplication in Bengali), and inflectional properties (no difficulties with noun or verb inflections in Bengali). Among the two participants with AD, the individual who showed lower proficiency and usage in L2 (English) demonstrated reduced syntactic complexity and morphosyntactic richness in English. CONCLUSIONS: Evidence from these case studies suggests that language impairment features in AD are not universal across languages, particularly in comparison to impairments typically associated with language breakdowns in English. This study underscores the importance of establishing connected speech profiles in AD for non-English-speaking populations, especially for structurally different languages. This would in turn lead to the development of language-specific markers that can facilitate early detection of language deterioration and aid in improving diagnosis of AD in individuals belonging to underserved linguistically diverse populations. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25412458.

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation. In this study, we recruited a family that had two individuals with ID. Whole exome sequencing was performed to identify a homozygous frameshift variant (c.1171_1175delACCAT(p.Thr391fs*18*)) in NSUN2 (NM_017755.5) in the proband. The varint was confirmed as segregating in his affected brother and his parents by Sanger sequencing. The individuals that we described showed a similar dysmorphology profile to that associated with MRT5. To analyze the correlations between genotypes of NSUN2 and phenotypes of individuals with ID, we examined 17 variants and the associated phenotypes from 32 ID individuals in current and previous studies. We concluded that mutations in NSUN2 cause a wide range of phenotypic defects. Although some clinical manifestations were highly variable, the core phenotypes associated with NSUN2 mutations were dysmorphic facies, microcephaly, short stature, ID, growth restriction, language impairment, hypotonia and delayed puberty. Our study expands the genetic spectrum of NSUN2 mutations and helps to further define the genotype-phenotype correlations in MRT5.

[Analysis of language and influencing factors of children with speech disorder in Beijing].

Objective: To investigate the features and influencing factors of language in children with various types of speech disorders. Methods: A case-control study was carried out, 262 children with speech disorder had been diagnosed at the language-speech clinic of the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics from January 2021 to November 2023, the children with speech sound disorder as the speech sound disorder group, the children with developmental stuttering as the stuttering group. There were 100 typically-developed children who underwent physical checkups at the Center of Healthcare during the same period as the healthy group. All children experienced a standardized evaluation of language with diagnostic receptive and expressive assessment of mandarin-comprehensive(DREAM-C) and questionnaire, One-way ANOVA and LSD test were conducted to compare the differences in overall language, receptive language, expressive language, semantics, and syntax scores among 3 groups of children. According to the results of DREAM-C, the children with speech disorder were divided into language normal group and language delay group. Chi-square test and multivariate Logistic regression were implemented to analyze the association between the linguistic development of children with speech disorder and potential influential factors. Results: There were 145 children in the speech sound disorder group, including 110 males and 35 females respectively, with an age of (5.9±1.0) years; 117 children in the stuttering group, including 91 males and 26 females, with an age of (5.8±1.0) years; 100 children in the healthy group, including 75 males and 25 females, with an age of (5.7±1.2) years. The variations in overall language, expressive language, and syntax scores among 3 groups of children were statistically significant (92±18 vs.96±11 vs. 98±11, 81±18 vs. 84±14 vs. 88±13, 87±16 vs. 89±11 vs. 91±10, F=5.46, 4.69, 3.68, all P<0.05). Pairwise comparison revealed that the speech sound disorder group had lower scores in overall language, expressive language, and syntactic compared to the healthy group, and the differences were statistically significant (all P<0.01) and the overall language score was lower than that of children with stuttering (P<0.05). In terms of overall language and expressive language, there was a statistically significant difference in the incidence of language delay among the three groups of children (15.9% (23/145) vs. 20.5% (24/117) vs. 7.0% (7/100), 46.2% (67/145) vs. 39.3% (46/117) vs. 26.0% (26/100); χ2=7.93, 10.28; both P<0.05). In terms of overall language, the stuttering group took up the highest proportion. In terms of expressive language, the speech sound disorder group accounted for the highest amount. The incidence of language delay in children with speech disorder was 44.3% (116/262). Non-parent-child reading, daily screen time ≥1 hour and screen exposure before 1.5 years of age are risk factors for the development of language in children with speech disorder (OR=1.87, 2.18, 2.01; 95%CI 1.07-3.27, 1.23-3.86, 1.17-3.45; all P<0.01). Negative family history are protective factors for the progress of language ability (OR=0.37, 95%CI 0.17-0.81, P<0.05). Conclusions: Children with speech disorder tend to have easy access to language delay, especially in expressive language and syntax. The occurrence of language delay in children with speech disorder is tightly connected with factors such as the family medical history, parent-child reading, screen time, etc. Attention should be paid to the development of language in children who suffer from speech disorder.

Testing the Continuum/Spectrum Model in Russian-Speaking Children With and Without Developmental Language Disorder.

PURPOSE: Previously, Lancaster and Camarata (2019) showed that the continuum/spectrum model of the developmental language disorder (DLD) best explained the high heterogeneity of symptoms in children with DLD. We hypothesize that the continuum/spectrum approach can include not only children with DLD but also typically developing (TD) children with different timelines and patterns of language acquisition. This model can explain individual language profiles and deficits in children. METHOD: We assessed language abilities in a group of Russian-speaking children with DLD aged 4-7 years (n = 53) and their age- and gender-matched peers without speech and language diagnoses (n = 53, TD). We evaluated the children's performance at four language levels in production and comprehension domains, using 11 subtests of the standardized language assessment for Russian: Russian Child Language Assessment Battery (RuCLAB). Using the k-means cluster method and RuCLAB scores, we obtained two clusters of children and analyzed their language performance in individual subtests. RESULTS: The analysis revealed that the two clusters of children both included DLD and TD participants: Group 1, with higher test scores (TD = 45, DLD = 24 children), and Group 2, with lower scores (TD = 8, DLD = 29). Children from Group 1 mostly had lower scores at one of the language levels, whereas those from Group 2 struggled at several language levels. Furthermore, children with DLD from both groups tended to be more sensitive to linguistic features such as word length, noun case, and sentence reversibility compared to TD children. CONCLUSIONS: The presence of two mixed groups shows that children with diagnosed DLD could perform on par with TD children, whereas some younger TD children could perform similarly to children with DLD. Our findings support the continuum/spectrum model: Linguistic skills in preschool children are a continuum, varying from high to poor skills at all language levels in comprehension and production. To describe a child's language profile, the tasks assessing all language levels should be used. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25521400.

A systematic review of factors that impact reading comprehension in children with developmental language disorders.

Children with developmental language disorder (DLD) have a high rate of co-occurring reading difficulties. The current study aims to (i) examine which factors within the Active View of Reading (AVR; Duke & Cartwright, 2021) apply to individuals with DLD and (ii) investigate other possible factors that relate to reading comprehension ability in individuals with DLD, outside the components in the AVR. Electronic database search and journal hand-search yielded 5058 studies published before March 2022 related to reading comprehension in children with DLD. 4802 articles were excluded during abstract screening, yielding 256 studies eligible for full-text review. Following full-text review, 44 studies were included and further coded for demographics, language of assessment, description of reported disabilities, behavioral assessment, and reading comprehension assessment. While the results aligned with the AVR model, three additional factors were identified as significantly relating to reading comprehension abilities in children with DLD: expressive language (oral and written), question types of reading assessment, and language disorder history. Specifically, expressive language was positively associated with reading comprehension ability, while resolved DLD showed higher reading comprehension abilities than persistent DLD. Furthermore, children with DLD may face additional difficulties in comprehending inference-based questions. This study provides factors for researchers, educators, and clinical professionals to consider when evaluating the reading comprehension of individuals with DLD. Future research should further explore the relative importance of factors of the AVR to reading comprehension outcomes throughout development.

Impaired Cortical Tracking of Speech in Children with Developmental Language Disorder.

In developmental language disorder (DLD), learning to comprehend and express oneself with spoken language is impaired, but the reason for this remains unknown. Using millisecond-scale magnetoencephalography recordings combined with machine learning models, we investigated whether the possible neural basis of this disruption lies in poor cortical tracking of speech. The stimuli were common spoken Finnish words (e.g., dog, car, hammer) and sounds with corresponding meanings (e.g., dog bark, car engine, hammering). In both children with DLD (10 boys and 7 girls) and typically developing (TD) control children (14 boys and 3 girls), aged 10-15 years, the cortical activation to spoken words was best modeled as time-locked to the unfolding speech input at ∼100 ms latency between sound and cortical activation. Amplitude envelope (amplitude changes) and spectrogram (detailed time-varying spectral content) of the spoken words, but not other sounds, were very successfully decoded based on time-locked brain responses in bilateral temporal areas; based on the cortical responses, the models could tell at ∼75-85% accuracy which of the two sounds had been presented to the participant. However, the cortical representation of the amplitude envelope information was poorer in children with DLD compared with TD children at longer latencies (at ∼200-300 ms lag). We interpret this effect as reflecting poorer retention of acoustic-phonetic information in short-term memory. This impaired tracking could potentially affect the processing and learning of words as well as continuous speech. The present results offer an explanation for the problems in language comprehension and acquisition in DLD.

Verb Vocabulary Supports Event Probability Use in Developmental Language Disorder.

PURPOSE: Children with developmental language disorder (DLD) tend to interpret noncanonical sentences like passives using event probability (EP) information regardless of structure (e.g., by interpreting "The dog was chased by the squirrel" as "The dog chased the squirrel"). Verbs are a major source of EP information in adults and children with typical development (TD), who know that "chase" implies an unequal relationship among participants. Individuals with DLD have poor verb knowledge and verb-based sentence processing. Yet, they also appear to rely more on EP information than their peers. This paradox raises two questions: (a) How do children with DLD use verb-based EP information alongside other information in online passive sentence interpretation? (b) How does verb vocabulary knowledge support EP information use? METHOD: We created novel EP biases by showing animations of agents with consistent action tendencies (e.g., clumsy vs. helpful actions). We then used eye tracking to examine how this EP information was used during online passive sentence processing. Participants were 4- to 5-year-old children with DLD (n = 20) and same-age peers with TD (n = 20). RESULTS: In Experiment 1, children with DLD quickly integrated verb-based EP information with morphosyntax close to the verb but failed to do so with distant morphosyntax. In Experiment 2, the quality of children's sentence-specific verb vocabulary knowledge was positively associated with the use of EP information in both groups. CONCLUSION: Depending on the morphosyntactic context, children with DLD and TD used EP information differently, but verb vocabulary knowledge aided its use. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25491805.

Retrieval Practice and Word Learning by Children With Developmental Language Disorder: Does Expanding Retrieval Provide Additional Benefit?

PURPOSE: The word learning of preschool-age children with developmental language disorder (DLD) is improved when spaced retrieval practice is incorporated into the learning sessions. In this preregistered study, we compared two types of spacing-an expanding retrieval practice schedule and an equally spaced schedule-to determine if one of these approaches yields better word learning outcomes for the children. METHOD: Fourteen children with DLD aged 4-5 years and 14 same-age children with typical language development (TD) learned eight novel nouns over two sessions. Spacing for half of the novel words was expanded gradually during learning; for the remaining novel words, greater spacing remained at the same level throughout learning. Immediately after the second session and 1 week later, the children's recall of the words was tested. RESULTS: The children with TD recalled more novel words than the children with DLD, although this difference could be accounted for by differences in the children's standardized receptive vocabulary test scores. The two groups were similar in their ability to retain the words over 1 week. Initially, the shorter spacing in the expanding schedule resulted in greater retrieval success than the corresponding (longer spaced) retrieval trials in the equally spaced schedule. These early shorter spaced trials also seemed to benefit retrieval of the trials with greater spacing that immediately followed. However, as the learning period progressed, the accuracy levels for the two conditions converged and were likewise similar during final testing. CONCLUSION: We need a greater understanding of how and when short spacing can be helpful to children's word learning, with the recognition that early gains might give a misleading picture of the benefits that short spacing can provide to longer term retention. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25537696.

The informant matters: Differences in bullying victim categorization rates assessed with self- and peer-reports in children with developmental language disorder and reading difficulties.

BACKGROUND: Children with Developmental Language Disorder (DLD) and Reading Difficulties (RD) can show more peer relation problems depending on the informant. AIMS: (1) To explore bullying victims' categorization, evaluated by self- and peer-reports, in children with DLD and RD; and (2) to assess agreement rates between informants. METHOD AND PROCEDURES: Victimization was assessed using a self-report (EBIP-Q) and a peer-report sociogram (CESC) in a sample of 83 participants (9-12 years; 10.5 ± 1.1 years), comprising of DLD (n = 19), RD (n = 32), and Control (n = 32) groups. OUTCOMES AND RESULTS: We found a higher frequency of the rejected sociometric profile in the DLD and RD groups, a higher peer-reported victimization in the DLD group, and more severe self-reported victimization in the DLD and RD groups. Odds of being classified as victimized were higher for self-report except in the DLD group. Informants' agreement was high using the most restrictive EBIP-Q criterion (7 points) for both the Control and the RD groups, being non-significant for the DLD group regardless of the criteria used. CONCLUSIONS AND IMPLICATIONS: We found a higher victimization risk in children with language difficulties, although self-assessment seems to under-detect children with DLD according to the agreement rates, pointing out the need to combine assessments and informants. WHAT DOES THIS PAPER ADD?: Several studies have shown that children with DLD or RD obtain higher scores of victimization and score lower on several scales of social skills with continuous data. Although continuous analyses are usual in research, professional decisions are usually based on cut-off criteria more than how high or low a score is in contrast to another group. This is one of the first works that analyses victimization following the cut-off criteria of self and peer assessments that professionals used in the school settings in children with DLD and RD. Our results will raise awareness among school professionals based on the evidence about the high risk of victimization, especially in children with DLD, and the implications of selecting between several measures of victimization, in this group of children. We think that our results would help to better detect and prevent bullying in schools for children with DLD.

Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente / Childhood-onset Huntignton´s disease. A rare presentation

Introducción La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación. (AU)

INTRODUCTIO NHuntington’s disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms’ onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington’s disease. CASE REPORT A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION. Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon. (AU)

Lexical skills and gesture use: A comparison between expressive and receptive/expressive late talkers.

BACKGROUND: Studies on late talkers (LTs) highlighted their heterogeneity and the relevance of describing different communicative profiles. AIMS: To examine lexical skills and gesture use in expressive (E-LTs) vs. receptive-expressive (R/E-LTs) LTs through a structured task. METHODS AND PROCEDURES: Forty-six 30-month-old screened LTs were distinguished into E-LTs (n= 35) and R/E-LTs (n= 11) according to their receptive skills. Lexical skills and gesture use were assessed with a Picture Naming Game by coding answer accuracy (correct, incorrect, no response), modality of expression (spoken, spoken-gestural, gestural), type of gestures (deictic, representational), and spoken-gestural answers' semantic relationship (complementary, equivalent, supplementary). OUTCOMES AND RESULTS: R/E-LTs showed lower scores than E-LTs for noun and predicate comprehension with fewer correct answers, and production with fewer correct and incorrect answers, and more no responses. R/E-LTs also exhibited lower scores in spoken answers, representational gestures, and equivalent spoken-gestural answers for noun production and in all spoken and gestural answers for predicate production. CONCLUSIONS AND IMPLICATIONS: Findings highlighted more impaired receptive and expressive lexical skills and lower gesture use in R/E-LTs compared to E-LTs, underlying the relevance of assessing both lexical and gestural skills through a structured task, besides parental questionnaires and developmental scales, to describe LTs' communicative profiles.

Validating the Use of Percent Grammatical Utterances for Assessing Mandarin-Speaking Children's Grammatical Skill: Evidence From 3-Year-Olds.

PURPOSE: The study examined the use of percent grammatical utterances (PGUs) for assessing grammatical skills in Mandarin-speaking 3-year-old children. METHOD: Participants were 30 Mandarin-speaking 3-year-olds with typical development. Language samples were collected in two visits for each child using a picture description task. Children were asked to talk about 16 pictures in response to questions and prompts at each visit. Pictures for the language sample collection were identical across the visits. PGUs were computed, and the grammatical errors that children produced in the task were coded and tallied for error types at each visit. Test-retest reliability, split-half reliability, and concurrent criterion validity of PGUs were evaluated. RESULTS: The mean PGU level was approximately 78% at Visit 1 and 81% at Visit 2, both of which were significantly below the mastery level (i.e., 90%). The correlation coefficient for test-retest reliability of PGU was large (r = .70, p < .01); the correlation coefficient for split-half reliability was medium at Visit 1 (r = .47, p < .01) and large (r = .65, p < .01) at Visit 2. In addition, the correlation coefficient for concurrent criterion validity of PGU was medium for both visits (rs ≥ .35, ps ≤ .03). The ranking and proportion of each error type were similar between the visits. CONCLUSION: The initial evidence from psychometric properties suggests that PGU computed from the picture description task is a reliable and valid measure for evaluating grammatical skills in Mandarin-speaking 3-year-old children. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25395499.

A comparison of learning and retention of a syntactic construction between Cantonese-speaking children with and without DLD in a priming task.

Procedural circuit Deficit Hypothesis (PDH) of Developmental Language Disorder (DLD) predicts problems with learning and retention of grammar. Twenty 7- to 9-year-old Cantonese-speaking children with DLD and their typically developing (TD) age peers participated in a syntactic priming task that was given in two sessions one week apart. Production of Indirect Object Relative Clause (IORC) was tested using a probe test before and after the priming task, and one week later. The study involved two cycles of learning and retention, and two levels of prior knowledge. Bayesian linear mixed effects modelling was used for data analysis. Children with DLD learned, and possibly retained, IORC less well than TD children after age, working memory and general grammatical knowledge were controlled for. No interaction effects were significant, meaning that cycle and prior knowledge affected both groups similarly in learning and retention. Results were discussed in relation to PDH and the Complementary Learning Systems Theory.

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.

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded by GATM, which are involved in the synthesis of creatine. After synthesis, creatine is taken up by a sodium-dependent membrane bound creatine transporter (CRTR), encoded by SLC6A8, into all organs. Creatine uptake is very important especially in high energy demanding organs such as the brain, and muscle. To classify the pathogenicity of variants in GAMT, GATM, and SLC6A8, we developed the CCDS Variant Curation Expert Panel (VCEP) in 2018, supported by The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource. We developed disease-specific variant classification guidelines for GAMT-, GATM-, and SLC6A8-related CCDS, adapted from the American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant interpretation guidelines. We applied specific variant classification guidelines to 30 pilot variants in each of the three genes that have variants associated with CCDS. Our CCDS VCEP was approved by the ClinGen Sequence Variant Interpretation Working Group (SVI WG) and Clinical Domain Oversight Committee in July 2022. We curated 181 variants including 72 variants in GAMT, 45 variants in GATM, and 64 variants in SLC6A8 and submitted these classifications to ClinVar, a public variant database supported by the National Center for Biotechnology Information. Missense variants were the most common variant type in all three genes. We submitted 32 new variants and reclassified 34 variants with conflicting interpretations. We report specific phenotype (PP4) using a points system based on the urine and plasma guanidinoacetate and creatine levels, brain magnetic resonance spectroscopy (MRS) creatine level, and enzyme activity or creatine uptake in fibroblasts ranging from PP4, PP4_Moderate and PP4_Strong. Our CCDS VCEP is one of the first panels applying disease specific variant classification algorithms for an X-linked disease. The availability of these guidelines and classifications can guide molecular genetics and genomic laboratories and health care providers to assess the molecular diagnosis of individuals with a CCDS phenotype.

Exploring the Views, Perspectives, and Current Practices of Educational Speech-Language Pathologists and Psychologists in Canada: How Childhood Developmental Language Disorders Are Identified and Diagnosed.

PURPOSE: Across Canada, speech-language pathologists (SLPs) and educational psychologists (EPs) work in schools to identify and diagnose childhood learning difficulties, including language disorders; however, both professional groups use different terms to identify and diagnose them. Using the term developmental language disorder (DLD), developed by the CATALISE consortium, would provide consistency across fields. To effectively implement the use of DLD, it is crucial to understand how EPs and SLPs currently identify childhood language disorders and to investigate the potential impact of a practice change in this area. METHOD: The study conducted 13 moderated focus groups and one one-on-one semistructured interview across six Canadian provinces in English and French. RESULTS: We found some social and structural barriers that impact SLPs' and EPs' current practice of identifying and diagnosing language disorders generally (e.g., the belief that children should not be labeled "too early," institutions that prioritize certain professional diagnoses over others, board policies that do not allocate funds for language disorders, professionals' reticence to convey difficult information such as a diagnosis to collaborators) and DLD specifically (e.g., different professional taxonomies, lack of familiarity with or uncertainty about the label, not recognized as a condition in schools that may or may not even identify language disorder as a category of exceptionality). Nevertheless, the focus groups also revealed the extent to which DLD could be useful in their current practice. CONCLUSION: Both EPs and SLPs acknowledged the importance of working together; therefore, DLD could inspire more collaborative practice between SLPs and EPs around language disorders.

Morphological Complexity in Writing: Implications for Writing Quality and Patterns of Change.

PURPOSE: The current study examined (a) the relation between morphologically complex word (MCW) use (words containing at least one derivational morpheme such as prefixes and suffixes) and teachers' ratings of writing quality, (b) average change in MCW use in writing across the school year, and (c) differential change in MCW among students with varying language abilities and linguistic backgrounds including students with developmental language disorders (DLDs) and multilingual learners (MLs). METHOD: Expository writing samples (writing for the purpose of explaining or educating) were collected in October and May from 824 fifth-grade students, including 109 with DLD and 170 who were MLs receiving English as a second language service. Students' written responses were coded for the use of MCW. Pearson product-moment correlations and two-level hierarchical linear models were employed to investigate the association between MCW usage and writing quality, as well as increases in MCW usage over the course of the academic year, taking into account the nested structure of students within classrooms. RESULTS: The relation between students' MCW use and teachers' writing quality ratings was moderately strong (r = .47). Student use of MCW in expository writing showed significant change from fall to spring across all students. However, the amount of change in MCW use across the school year was significantly lower for MLs (effect size [ES] = .09) and students identified with DLD (ES = .10). CONCLUSIONS: The relation between MCW use and teachers' writing quality ratings highlights the utility of MCW as a written language measure for progress monitoring or assessment. The presence of differential change and potential Matthew effects for MLs and students with DLD substantiates the need for further exploration of instructional components that support the increased use of complex vocabulary.

The neuroanatomy of developmental language disorder: a systematic review and meta-analysis.

Developmental language disorder (DLD) is a common neurodevelopmental disorder with adverse impacts that continue into adulthood. However, its neural bases remain unclear. Here we address this gap by systematically identifying and quantitatively synthesizing neuroanatomical studies of DLD using co-localization likelihood estimation, a recently developed neuroanatomical meta-analytic technique. Analyses of structural brain data (22 peer-reviewed papers, 577 participants) revealed highly consistent anomalies only in the basal ganglia (100% of participant groups in which this structure was examined, weighted by group sample sizes; 99.8% permutation-based likelihood the anomaly clustering was not due to chance). These anomalies were localized specifically to the anterior neostriatum (again 100% weighted proportion and 99.8% likelihood). As expected given the task dependence of activation, functional neuroimaging data (11 peer-reviewed papers, 414 participants) yielded less consistency, though anomalies again occurred primarily in the basal ganglia (79.0% and 95.1%). Multiple sensitivity analyses indicated that the patterns were robust. The meta-analyses elucidate the neuroanatomical signature of DLD, and implicate the basal ganglia in particular. The findings support the procedural circuit deficit hypothesis of DLD, have basic research and translational implications for the disorder, and advance our understanding of the neuroanatomy of language.