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.

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.

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.

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 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.

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.

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.

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.

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.

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)

Delayed auditory experience results in past tense production difficulties and working memory deficits in children with cochlear implants: A comparison with children with developmental language disorder.

Extent evidence has shown that morphosyntax is one of the most challenging linguistic areas for children with atypical early language experiences. Over the last couple of years, comparisons between deaf children with CIs and children with DLD have gained interest - as cases of atypical early language experiences, including, but not restricted to, delayed onset of exposure to language input and language-processing difficulties. Evidence suggests that the morphosyntactic difficulties experienced by deaf children with CIs and children with DLD are very similar in nature. However, the few studies that have directly compared both groups are inconclusive, with deaf children with CIs either performing significantly better or on par with children with DLD. These differences in findings can be attributed, in part at least, to a failure to implement essential methodological controls - even more so given that deaf children with CIs comprise a very diverse population. The goal of the present study was to directly compare the performance of deaf children with CIs to that of children with DLD on a morphosyntactic ability known to be particularly difficult for both groups. Specifically, the present study conducted a detailed examination of the past tense marking abilities of deaf children with CIs and children with DLD while controlling for factors specific to deaf children with CIs, for children's basic cognitive abilities as well as for children's age, sex assigned at birth, and SES. Past tense verbs are particularly relevant as they are used as a marker of developmental language disorder (DLD) in children learning French. Moreover, extent evidence shows that deaf children with CIs and children with DLD have important WM difficulties, but also that there is an association between auditory perception, processing abilities, and working memory (WM) abilities as well as with the acquisition of morphological features, including tense marking. Unfortunately, no study has examined the relation between the accurate production of past tense verbs and WM abilities in children with CIs and children with DLD learning French. Fifteen deaf children with CIs between 5 and 7 years of age were compared to 15 children with DLD and to 15 typically-developing monolingual controls (MON), matched on important variables, using a past tense elicitation task as well as measures of phonological and nonverbal WM abilities. The results confirm that the deaf children with CIs and the children with DLD both performed significantly lower than the MON controls on the past tense elicitation task - suggesting that difficulties with past tense verbs in French might not only be a marker of DLD but, instead, a correlate of atypical language acquisition. Of importance, the present study is the first to show that deaf children with CIs perform significantly lower than children with DLD on a past tense elicitation task - highlighting the importance of using methodological controls. As well, significant correlations were found between the performance of the deaf children with CIs and of the children with DLD on the past tense elicitation task and their phonological and nonverbal WM abilities. Taken together with previous studies conducted in the same populations, this represents another evidence suggesting that early atypical language experiences result in language and WM deficits, including morphosyntactic difficulties.

Individual variation in bilingual vocabulary in preschoolers with developmental language disorder.

BACKGROUND: It is unclear how speech production, selective attention, and phonological working memory are related to first- (L1) and second-language (L2) vocabularies in bilingual preschoolers with Developmental Language Disorder (DLD). AIMS: To study individual variation in vocabularies in DLD bilingual preschoolers by (1) comparing them to typically developing (TD) bilingual, and TD and DLD monolingual peers; (2) differentially predicting L2 vocabulary; and (3) identifying and characterizing bilinguals' L1/L2 vocabulary profiles. METHODS: We measured the selective attention, working memory, and L1 Turkish/Polish (where applicable) and L1/L2 Dutch speech and vocabulary abilities of 31 DLD bilingual, 37 TD bilingual, and 61 DLD and 54 TD Dutch monolingual three-to-five year-olds. RESULTS: DLD bilinguals scored lower than TD bilinguals and TD/DLD monolinguals on all measures, except L2 vocabulary, where all bilinguals underperformed all monolinguals. Selective attention predicted Dutch vocabulary across groups. Three bilingual vocabulary profiles emerged: DLD bilinguals were less likely to be L1 dominant, TD/DLD bilinguals with better attention more often had a Balanced high L1/L2 profile, while those with poorer selective attention and L1 speech tended to be L2 dominant. CONCLUSIONS: These findings highlight the roles of L1 speech and selective attention, rather than L2 speech and working memory, in understanding bilingual vocabulary variation among DLD preschoolers.

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.

Impaired motor skills and proprioceptive function in Mandarin-speaking children with developmental language disorder.

This study examined proprioceptive acuity and its relationship with motor function in Mandarin-speaking children with and without developmental language disorder (DLD). Fifteen children aged 9-12 years with DLD and 15 age- and sex-matched typically developing (TD) children participated in this study. Children's motor function was assessed using the second edition of the Movement Assessment Battery for Children (MABC-2). Their proprioceptive acuity was measured based on the absolute error (i.e., proprioceptive bias) and variable error (i.e., proprioceptive precision) when performing joint position matching tasks. Compared with the TD group, the DLD group exhibited impaired motor function and poorer proprioceptive acuity, as evidenced by the lower scores on the MABC-2 and the higher rates of absolute and variable errors in the joint position matching tasks. A significant association between the proprioceptive bias (absolute error) and the MABC-2 total score was also observed in the combined cohort of children with and without DLD. We conclude that DLD is associated with proprioceptive dysfunction.