Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) syndromes, are associated with higher risk for neurodevelopmental issues, few studies have examined the language skills across 22q11.2Dup nor compared them with the 22q11.2DS. The current study aims to characterize language abilities in school-aged children with 22q11.2Dup (n = 29), compared to age-matched children with 22q11.2DS (n = 29). Standardized language tests were administered, assessing receptive and expressive language skills across different language domains. Results indicate that children with 22q11.2Dup demonstrate significantly more language problems compared to the general population. Mean language skills were not significantly different among children with 22q11.2 CNVs in this cohort. While children with 22q11.2DS demonstrated language difficulties starting at the word level, the most common language problems in children with 22q11.2Dup started at the sentence level. Importantly, both expressive and receptive language as well as lexico-semantic and morphosyntactic domains were impaired in children with 22q11.2 CNVs. Early identification, therapeutic intervention, and follow-up of language impairments in children with 22q11.2Dup are recommended to support language development and to reduce longitudinal impact of language and communicative deficits.

The effect of manual movements on stuttering in individuals with down syndrome.

PURPOSE: Stuttering may disrupt the speech of individuals with Down syndrome (DS), but standard stuttering therapies may be less adapted to these clients' needs. This study examined if their strength in gesture use can lead to the development of a new stuttering therapy. METHOD: Eighteen individuals with DS who stutter participated in an experimental task. During this task, they produced sentences in three different conditions: once without the ability to use gestures, once while moving the mouth of a hand puppet synchronous with their speech, and once while making beat gestures along their speech. Stuttering frequency was measured and compared between conditions while controlling for the effect of articulation rate. RESULTS: The experimental hand puppet and beat condition did not affect the stuttering frequency, but the covariate articulation rate did. An exploratory posthoc analysis showed that the articulation rate decreased during the experimental hand puppet and beat condition. Manual movements in the present task might only induce fluency through articulation rate reduction. However, analyses at individual level show significant interindividual variability. CONCLUSION: Individual analyses show that effect on stuttering frequency cannot be attributed entirely to articulation rate reduction and that beat gestures might still play a role. However, at this point, there is not enough direct evidence to implement beat gestures in current stuttering therapy.

Aging effects and feasibility of statistical learning tasks across modalities.

Knowledge on statistical learning (SL) in healthy elderly is scarce. Theoretically, it is not clear whether aging affects modality-specific and/or domain-general learning mechanisms. Practically, there is a lack of research on simplified SL tasks, which would ease the burden of testing in clinical populations. Against this background, we conducted two experiments across three modalities (auditory, visual and visuomotor) in a total of 93 younger and older adults. In Experiment 1, SL was induced in all modalities. Aging effects appeared in the tasks relying on an explicit posttest to assess SL. We hypothesize that declines in domain-general processes that predominantly modulate explicit learning mechanisms underlie these aging effects. In Experiment 2, more feasible tasks were developed for which the level of SL was maintained in all modalities, except the auditory modality. These tasks are more likely to successfully measure SL in elderly (patient) populations in which task demands can be problematic.

Gesture-speech integration is related to vocabulary skills in children with developmental language disorder, Williams syndrome and typical development.

BACKGROUND: Individuals with developmental language disorder or Williams syndrome are reported to use more gestures than individuals with typical development. However, these two groups differ considerably in visuospatial and language skills, two skills that are hypothesized to shape gesture rate. AIMS: We first examined whether children with both developmental language disorder and children Williams syndrome do indeed use more gestures. Our second aim was to disentangle the role of vocabulary and visuospatial skills in the use of supplementary gestures (i.e., containing unique information). To account for participant heterogeneity, analyses included both group comparisons and vocabulary and visuospatial skills at an individual level. As a third aim, the role of visuospatial skills was further examined in relation to gestures containing spatial content. METHODS & PROCEDURES: In a cross-sectional group design, three participant groups watched and then retold a cartoon: children with typical development (n = 25), children with developmental language disorder (n = 25) and children/young people with Williams syndrome (n = 14). Their narrations were transcribed and hand gestures were coded based on gesture-speech integration (redundant, adds information to particular lexical items, gives information that is entirely absent from speech) and spatial content. Participants' expressive vocabulary and visuospatial skills were measured. OUTCOMES & RESULTS: Between-group comparisons showed that individuals with developmental language disorder or Williams syndrome did indeed use more gestures. Poisson loglinear modelling demonstrated that a relative higher use of supplementary gestures was determined by lower expressive vocabulary skills. Neither the group distinction nor visuospatial skills shaped the supplementary gesture rate nor spatial gesture rate. CONCLUSIONS & IMPLICATIONS: Regardless of neurodevelopmental condition or typical development, a higher use of supplementary gestures was influenced by expressive vocabulary skills. Children with lower vocabulary skills spontaneously capitalized on the multimodality of communication to express constituents that were not present in their verbal speech. This finding is a promising starting point for future gesture intervention studies examining whether implicit modelling of gesture use can encourage gestures even more in these children and if this allows them to achieve higher linguistic complexity. On a methodological note, the observed intra-group skill variability demonstrates that group comparisons need to be complemented with correlational measures accounting for skills at an individual level. WHAT THIS PAPER ADDS: What is already known on the subject Children with developmental language disorder and children with Williams syndrome are more inclined to use gestures than typically developing children. Research conducted in adults with typical development points towards the role of lexical and visuospatial skills in gesture use, but it is unclear how these skills shape gesture use in children with atypical development. What this paper adds to existing knowledge This study compares the rate of gestures that convey meaning that is not expressed in speech between the three aforementioned populations. Novel is the inclusion of the group distinction, individual lexical skills, and visuospatial skills in one encompassing statistical model. What are the potential or actual clinical implications of this work? The inclination to use gestures that replace speech is related to lexical skills. Visuospatial skills do not seem to play a role and should not be considered as a factor when thinking about gesture intervention. Understanding how gestures relate to specific skills is a first step to understanding how gesture interventions can bolster language production.

Early white matter connectivity and plasticity in post stroke aphasia recovery.

A disruption of white matter connectivity is negatively associated with language (recovery) in patients with aphasia after stroke, and behavioral gains have been shown to coincide with white matter neuroplasticity. However, most brain-behavior studies have been carried out in the chronic phase after stroke, with limited generalizability to earlier phases. Furthermore, few studies have investigated neuroplasticity patterns during spontaneous recovery (i.e., not related to a specific treatment) in the first months after stroke, hindering the investigation of potential early compensatory mechanisms. Finally, the majority of previous research has focused on damaged left hemisphere pathways, while neglecting the potential protective value of their right hemisphere counterparts for language recovery. To address these outstanding issues, we present a longitudinal study of thirty-two patients with aphasia (21 males and 11 females, M = 69.47 years, SD = 10.60 years) who were followed up for a period of 1 year with test moments in the acute (1-2 weeks), subacute (3-6 months) and chronic phase (9-12 months) after stroke. Constrained Spherical Deconvolution-based tractography was performed in the acute and subacute phase to measure Fiber Bundle Capacity (FBC), a quantitative connectivity measure that is valid in crossing fiber regions, in the bilateral dorsal arcuate fasciculus (AF) and the bilateral ventral inferior fronto-occipital fasciculus (IFOF). First, concurrent analyses revealed positive associations between the left AF and phonology, and between the bilateral IFOF and semantics in the acute - but not subacute - phase, supporting the dual-stream language model. Second, neuroplasticity analyses revealed a decrease in connection density of the bilateral AF - but not the IFOF - from the acute to the subacute phase, possibly reflecting post stroke white matter degeneration in areas adjacent to the lesion. Third, predictive analyses revealed no contribution of acute FBC measures to the prediction of later language outcomes over and above the initial language scores, suggesting no added value ofthe diffusion measures for languageprediction. Our study provides new insights on (changes in) connectivity of damaged and undamaged language pathways in patients with aphasia in the first months after stroke, as well as if/how such measures are related to language outcomes at different stages of recovery. Individual results are discussed in the light of current frameworks of language processing and aphasia recovery.

The role of the hippocampus in statistical learning and language recovery in persons with post stroke aphasia.

Although several studies have aimed for accurate predictions of language recovery in post stroke aphasia, individual language outcomes remain hard to predict. Large-scale prediction models are built using data from patients mainly in the chronic phase after stroke, although it is clinically more relevant to consider data from the acute phase. Previous research has mainly focused on deficits, i.e., behavioral deficits or specific brain damage, rather than compensatory mechanisms, i.e., intact cognitive skills or undamaged brain regions. One such unexplored brain region that might support language (re)learning in aphasia is the hippocampus, a region that has commonly been associated with an individual's learning potential, including statistical learning. This refers to a set of mechanisms upon which we rely heavily in daily life to learn a range of regularities across cognitive domains. Against this background, thirty-three patients with aphasia (22 males and 11 females, M = 69.76 years, SD = 10.57 years) were followed for 1 year in the acute (1-2 weeks), subacute (3-6 months) and chronic phase (9-12 months) post stroke. We evaluated the unique predictive value of early structural hippocampal measures for short-term and long-term language outcomes (measured by the ANELT). In addition, we investigated whether statistical learning abilities were intact in patients with aphasia using three different tasks: an auditory-linguistic and visual task based on the computation of transitional probabilities and a visuomotor serial reaction time task. Finally, we examined the association of individuals' statistical learning potential with acute measures of hippocampal gray and white matter. Using Bayesian statistics, we found moderate evidence for the contribution of left hippocampal gray matter in the acute phase to the prediction of long-term language outcomes, over and above information on the lesion and the initial language deficit (measured by the ScreeLing). Non-linguistic statistical learning in patients with aphasia, measured in the subacute phase, was intact at the group level compared to 23 healthy older controls (8 males and 15 females, M = 74.09 years, SD = 6.76 years). Visuomotor statistical learning correlated with acute hippocampal gray and white matter. These findings reveal that particularly left hippocampal gray matter in the acute phase is a potential marker of language recovery after stroke, possibly through its statistical learning ability.

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.

22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) confer risk for neurodevelopmental difficulties, but the characterization of speech-language and social skills in 22q11.2Dup is still limited. Therefore, this study aims to delineate social-communicative skills in school-aged children with 22q11.2Dup (n = 19) compared to their non-carrier siblings (n = 11) and age-matched children with 22q11.2DS (n = 19). Parents completed two standardized questionnaires: the Children's Communication Checklist (CCC-2), screening speech, language, and social skills, and the Social Responsiveness Scales (SRS-2), assessing deficits in social behavior. Parents report that both children with 22q11.2Dup and 22q11.2DS show more social-communicative deficits than the general population; children with 22q11.2Dup seem to take an intermediate position between their siblings and children with 22q11.2DS. Compared to 22q11.2DS, they demonstrate less frequent and less severe problems, and more heterogeneous social-communicative profiles, with fewer restricted interests and repetitive behaviors. In siblings of 22q11Dup, milder social-communicative difficulties and equally heterogeneous profiles are reported, which might indicate that-in addition to the duplication-other factors such as the broader genetic context play a role in social-communicative outcomes.

The relation between gestures and stuttering in individuals with Down syndrome.

BACKGROUND: Evidence shows that neurotypical individuals who stutter use fewer gestures than those who do not stutter. Presently, no research exists about the interaction of stuttering and gestures in individuals with Down syndrome. METHOD: Twenty-nine individuals with Down syndrome (7-19 years) of whom 16 stuttered and 13 spoke fluently and 20 neurotypical children (3-10 years) of whom 8 stuttered and 12 spoke fluently participated in this study. In spontaneous speech transcriptions, stuttering events and gestures were coded. RESULTS: Comparisons of gesture frequency during stuttered and fluent speech inside the Down syndrome and neurotypical group show that the Down syndrome group uses significantly more gestures during stuttered than during fluent speech while no significant difference is seen in the neurotypical group. CONCLUSIONS: There is some preliminary evidence that individuals with Down syndrome try to compensate for their stuttering events, however, analyses on word level are necessary to confirm a successful compensation.

Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.

Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age = 17.11 years) are reported, and phenotypes of de novo and inherited duplications are compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), and congenital heart defects (33%). Developmental, speech-language, and motor delay are common in infancy, while attention (64%), learning (60%), and motor problems (52%) are typically reported at primary school age. Attention-deficit/hyperactivity disorders are diagnosed in 44%. Median full-scale intelligence quotient is in the borderline range (IQ 76), with one-fifth of patients having mild intellectual disability. Longitudinal data in 11 patients, with the first assessment at a median age of 5.2 years and the second assessment at a median age of 8.8 years, indicate that almost two-third of patients have a relative stable cognitive trajectory, whereas one-third show a growing into deficit profile. In patients with de novo duplications, there is a trend of more failure to thrive, while more patients with inherited duplications follow special education.

Influence of gestures on the intelligibility and comprehensibility of utterances with stuttering events in individuals with Down syndrome.

INTRODUCTION: Individuals with Down syndrome (DS) often stutter, which can affect their speech intelligibility. Previous research has shown that manual signs can enhance speech intelligibility and comprehensibility. It remains unclear to what extent spontaneous hand gestures, such as iconic and beat gestures, may enhance intelligibility and/or comprehensibility during utterances with stuttering events. METHODS: Eleven individuals with DS who stutter provided video-recorded speech samples. From these samples, 60 utterances containing a stuttering event were selected. In half of them, the stuttering events were accompanied by gestures; in the other half, the stuttering events were not accompanied by gestures. The samples were shown to 250 assessors who were blind to the study's goals. Each sample was shown in three visibility conditions: 1) video-with-audio, 2) video-with-audio but with the speaker's mouth covered and 3) audio-only. The assessors rated speech intelligibility on a 7-point Likert scale and transcribed the speech sample. The effect of gesture production, gesture type and the visibility conditions on comprehensibility and intelligibility was examined with a hierarchical multiple linear regression. RESULTS: When a speaker had used a gesture during a stuttering event, the Likert scale score increased with 0.47 and the accuracy of transcription with 9.07%. There was no difference in effect between the different gesture types. Despite the effect from gesture use, there was no effect of the visibility conditions on the Likert scale or transcription score. CONCLUSIONS: Gestures positively affect intelligibility and comprehensibility of utterances with stuttering events in individuals with DS by altering the speech production. The possibility of beat gestures as a therapy method should be examined, with caution for the development of maladaptive behaviours.

An experiment on measuring awareness of stuttering in individuals with Down syndrome.

BACKGROUND: Awareness of stuttering is likely to depend upon the development of the metalinguistic skill to discriminate between fluent speech and stuttering and the ability to identify one's own speech as fluent or stuttered. Presently, little is known about these abilities in individuals with Down syndrome (DS). PURPOSE: This study investigates whether individuals with DS and typically developing (TD) children who stutter and who do not stutter differ in their ability to discriminate between fluent speech and stuttering. The second purpose of this study is to discover if this ability is correlated with their self-identification ability. METHOD: An experiment to investigate awareness with tasks for discrimination of stuttering and self-identification was developed. It was administered to 28 individuals (7-19 years) with DS, 17 of them stutter and 11 do not, and 20 TD children (3-10 years), 8 of them stutter and 12 do not. Skills to discriminate stuttering were compared between these groups and correlated with self-identification within these groups. The influence of stuttering severity and developmental/chronological age on their ability to discriminate was also investigated. RESULTS: The ability to discriminate does not differ significantly between the DS and TD group, but is highly influenced by developmental age. This ability correlates with self-identification but only for the TD individuals who speak fluently. CONCLUSION: The ability to discriminate matures around the age of 7 and conscious awareness may rely on this ability. Differences between the present findings and earlier studies suggest that differentiation in levels and types of awareness is warranted.

The complexity of early diagnostic decision making: A follow-up study of young children with language difficulties.

Background & aims: Due to the complexity of early diagnostic decision making, we examined the predictive value of an early diagnostic classification and early abilities on later best estimate diagnosis for 22 clinically referred children with language difficulties. Methods and procedures: Four years after initial evaluation (Time 1), the clinical files of these children were reviewed. A best-estimate (BE) diagnosis of language disorder (LD), intellectual disability (ID), or autism spectrum disorder (ASD) was established, with ASD being most common. Outcomes and results: Early clinical classifications were relatively unstable or difficult to establish at a young age. The magnitude of children's cognitive and receptive language delay was a significant predictor of a later BE diagnosis of ID and LD respectively. A BE diagnosis of ASD, by contrast, could not be predicted from children's early social communication problems nor the presence of restricted and repetitive behaviors and interests. Conclusions: Taken together, the results of this study suggest that language difficulties can be an early marker of a neurodevelopmental disorder which is often not identified at the age of first referral. Implications: Eligibility for treatment should, therefore, be based on biopsychosocial case formulation rather than DSM or ICD diagnostic classification. What this paper adds?: In this study a dimensional approach was used to characterize the abilities of young children referred with mild to profound receptive and/or expressive language difficulties. Later on, a categorical approach was adopted to establish best estimate diagnoses. Our clinical, broadly defined sample reflects the heterogeneous intake of young children referred for diagnostic assessment. Other studies on diagnostic stability often only focus on one diagnostic category (and are explicitly excluding children with specific other diagnoses), not taking into account the difficulties of early differential diagnostic decision making and stability across different categories over time. Investigations of differential diagnosis within a clinical group, instead of only differentiating children with a specific diagnosis from typically developing children, may be more informative for clinicians.

An investigation into the relationship between Quality of pantomime gestures and visuospatial skills.

While children with developmental language disorder or Williams syndrome appear to use hand gestures to compensate for specific cognitive and communicative difficulties, they have different cognitive strength-weakness profiles. Their semantic and visuospatial skills potentially affect gesture quality such as iconicity. The present study focuses on untangling the unique contribution of these skills in the quality of gestures. An explicit gesture elicitation task was presented to 25 participants with developmental language disorder between 7 and 10 years of age, 25 age-matched peers with typical development, and 14 participants with Williams Syndrome (8-23 years). They gestured pictures of objects without using speech (pantomime). The iconicity, semantic richness, and representation technique of the pantomimes were coded. Participants' semantic association and visuospatial skills were formally assessed. Iconicity was slightly lower in individuals with Williams syndrome, which seems related to their visuospatial deficit. While semantic saliency was similar across participant groups, small differences in representation technique were found. Partial correlations showed that visuospatial skills and semantic skills were instrumental in producing clear pantomimes. These findings indicate that clinicians aiming to enhance individuals' natural iconic gestures should consider achieved iconicity, particularly in individuals with low visuospatial skills.

Key Word Signing Has Higher Iconicity Than Sign Language.

Purpose Key word signing (KWS) entails using manual signs to support the natural speech of individuals with normal hearing and who have communication difficulties. While manual signs from the local sign language may be used for this purpose, some KWS systems have opted for a distinct KWS lexicon. Distinct KWS lexicon typically aims for higher sign iconicity or recognizability to make the lexicon more accessible for individuals with intellectual disabilities. We sought to determine if, in the Belgian Dutch context, signs from such a distinct KWS lexicon (Spreken Met Ondersteuning van Gebaren [Speaking With Support of Signs; SMOG]) were indeed more iconic than their Flemish Sign Language (FSL) counterparts. Method Participants were 224 adults with typical development who had no signing experience. They rated the resemblance between a FSL sign and its meaning. Raw data on the iconicity of SMOG from a previous study were used. Translucency was statistically and qualitatively compared between the SMOG lexicon and their FSL counterparts. Results SMOG had an overall higher translucency than FSL and contained a higher number of iconic signs. Conclusion This finding may support the value of a separate sign lexicon over using sign language signs. Nevertheless, other aspects, such as wide availability and inclusion, need to be considered.

Problem behavior in young children referred with language difficulties: Relations to language and intentional communication.

Background and aims: This exploratory study aims to examine the relative contribution of language and intentional communication to internalizing and externalizing problem behavior. Methods: Twenty-nine Dutch-speaking children (age range 24-46 months) referred with language difficulties participated in this study. For the majority of children, these early language difficulties appeared to be part of a broader neurodevelopmental disorder, mainly autism spectrum disorder. Parent ratings on the Achenbach Child Behavior Checklist 1½-5 were predicted from children's language level and intentional communicative abilities, the latter being assessed by both parent report and direct observation. In all series of hierarchical regression analyses, chronological age and nonverbal mental age were included as covariates. Results: Parents commonly reported withdrawal, emotionally reactive behavior, attention problems, and aggressive behavior. Parent-rated intentional communication was the most important predictor of internalizing problem behavior and played an important role in the prediction of aggressive behavior as well. However, chronological age and/or nonverbal mental age also predicted parent-rated levels of externalizing problem behavior, especially attention problems. Conclusions: The relation between language difficulties and problem behavior may be influenced by maturation and children's ability to communicate intentionally.Implications: Language proficiency should, therefore, be independently assessed from children's intentional communicative abilities which, in turn, may differ across contexts.

A Review on Treatment-Related Brain Changes in Aphasia.

Numerous studies have investigated brain changes associated with interventions targeting a range of language problems in patients with aphasia. We strive to integrate the results of these studies to examine (1) whether the focus of the intervention (i.e., phonology, semantics, orthography, syntax, or rhythmic-melodic) determines in which brain regions changes occur; and (2a) whether the most consistent changes occur within the language network or outside, and (2b) whether these are related to individual differences in language outcomes. The results of 32 studies with 204 unique patients were considered. Concerning (1), the location of treatment-related changes does not clearly depend on the type of language processing targeted. However, there is some support that rhythmic-melodic training has more impact on the right hemisphere than linguistic training. Concerning (2), we observed that language recovery is not only associated with changes in traditional language-related structures in the left hemisphere and homolog regions in the right hemisphere, but also with more medial and subcortical changes (e.g., precuneus and basal ganglia). Although it is difficult to draw strong conclusions, because there is a lack of systematic large-scale studies on this topic, this review highlights the need for an integrated approach to investigate how language interventions impact on the brain. Future studies need to focus on larger samples preserving subject-specific information (e.g., lesion effects) to cope with the inherent heterogeneity of stroke-induced aphasia. In addition, recovery-related changes in whole-brain connectivity patterns need more investigation to provide a comprehensive neural account of treatment-related brain plasticity and language recovery.

The mis-wired language network in children with developmental language disorder: insights from DTI tractography.

This study aims to detect the neural substrate underlying the language impairment in children with developmental language disorder (DLD) using diffusion tensor imaging (DTI) tractography. Deterministic DTI tractography was performed in a group of right-handed children with DLD (N = 17; mean age 10;07 ± 2;01 years) and a typically developing control group matched for age, gender and handedness (N = 22; mean age 11;00 ± 1;11 years) to bilaterally identify the superior longitudinal fascicle, arcuate fascicle, anterior lateral segment and posterior lateral segment (also called dorsal language network) and the middle and inferior longitudinal fascicle, extreme capsule fiber system and uncinate fascicle (also called ventral language network). Language skills were assessed using an extensive, standardized test battery. Differences in language performance, white matter organization and structural lateralization of the language network were statistically analyzed. Children with DLD showed a higher overall volume and higher ADC values for the left-hemispheric language related WM tracts. In addition, in children with DLD, the majority (88%; 7/8) of the studied language related WM tracts did not show a significant left or right lateralization pattern. These structural alterations might underlie the language impairment in children with DLD.

Atypical language characteristics and trajectories in children with 22q11.2 deletion syndrome.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a genetic condition associated with a highly variable phenotypic expression. During childhood speech and language deficits are commonly observed. Findings of cross-sectional studies suggest syndrome-specific and changing language profiles, but a longitudinal approach to identify developmental changes is still lacking to date. AIMS: The present study aimed to delineate language characteristics and trajectories by comparing the performance of Dutch-speaking school-aged children with 22q11.2DS (n = 18) to those of peers with idiopathic intellectual disability (IID, n  = 19) and to those of children with IID and comorbid autism spectrum disorder (IID + ASD, n = 23). The literature shows contradictory findings regarding language comprehension difficulties in children with 22q11.2DS, we focused on the receptive-expressive language discrepancy. Given their relative strength for verbal short-term memory (VSTM) tasks, a fine-grained error categorization was included to elucidate a possible influence of VSTM on the expressive language outcomes. Finally, we suggested that the inability of children with 22q11.2DS to use contextual information could interfere with morphosyntactic measures. METHODS: All groups (22q11.2DS, IID, and IID + ASD) were matched for nonverbal fluid reasoning (Gf) using the Analogies and Categories subtests of the Snijders-Oomen Nonverbal Intelligence Test or the Matrix Reasoning and Picture Concepts subtests of the Wechsler Preschool and Primary Scale of Intelligence. Several structural language skills were measured using the Clinical Evaluation of Language Fundamentals and Peabody Picture Vocabulary Test. The same instruments were re-administered after 18 to 24 months. A fine-grained error analysis of the Formulating and Recalling Sentences subtests, both measuring expressive syntax, explored factors contributing to expressive language deficits. RESULTS: In children with 22q11.2DS the relative advantage of receptive over expressive language had decreased compared to children with IID. For children with 22q11.2DS, complex sentence comprehension remained very challenging over time. Expressive language skills seemed less limited compared to children with IID, and were accompanied by less VSTM difficulties. In children with 22q11.2DS and children with IID + ASD, variable patterns of strengths and weaknesses were demonstrated, resulting in subtle differences between these groups. Error analyses indicated disregard of content-contextual cues and use of vague and elliptic language as being typical for children with 22q11.2DS. CONCLUSIONS: We recommend that in children with 22q11.2DS the impact of the receptive language impairment should be comprehensively examined and followed-up since it can have a negative effect on their social communication skills, adaptive functioning and academic achievement. Error analysis underscores that multiple measures should be used to evaluate the child's expressive language ability. Further research should focus on developmental trajectories of social communication skills and on the use of intervention strategies to improve language comprehension and pragmatics in school-aged children with 22q11.2DS.

Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID).

BACKGROUND: Development of cognitive skills and social responsiveness are areas of concern in children with 22q11.2 deletion syndrome (22q11DS). It remains unclear if the cognitive and social profiles and trajectories are syndrome-specific or similar to those of children with idiopathic intellectual disabilities (IID) with or without comorbid autism spectrum disorder (ASD). AIMS AND METHODS: In this exploratory study, we examined and compared five broad cognitive abilities (BCAs) and the social responsiveness in primary school-aged children with 22q11DS (age 6-13, n = 21) and IQ-matched peers with IID (n = 21). The relative strengths and weaknesses of both groups were re-evaluated after 19 to 30 months. OUTCOMES AND RESULTS: Four different cognitive trajectories (i.e. absolute progress, stability, growing into deficit, and absolute decline) were demonstrated in both groups. Most children showed combined types of trajectories across BCAs resulting in a complex changing cognitive profile. In the 22q11DS group, social responsiveness problems increased, whereas no significant change was observed in the IID group. CONCLUSIONS AND IMPLICATIONS: Results reflect similar cognitive and social responsiveness profiles and trajectories across groups with children with 22q11DS being more at risk for growing into a social deficit. We recommend repeated monitoring of social skills development to adapt the environmental demands to the child's individual social capacities.

Key Word Signing Usage of Adults With Intellectual Disabilities: Influence of Communication Partners' Sign Usage and Responsivity.

PURPOSE: In services for adults with intellectual disabilities, various staff members may have different key word signing (KWS) skills and conversational style. Little is known about how these clients use KWS with different staff members. Therefore, we observed staff-client conversations and examined how clients' KWS usage was shaped by staff members' KWS usage and conversational style. METHOD: Three 10-min dyadic conversations between an adult with moderate or severe intellectual disabilities (N = 15) and three familiar staff members were filmed and transcribed. The KWS usage and conversational responsivity in the transcriptions was analyzed at group (using generalized estimating equations), subgroup, and individual levels. RESULTS: Clients appeared to produce significantly more KWS as partners imitated more signs and as partners were more responsive. There was a negative interaction between these two factors. Subgroup analyses showed that spontaneity of clients' KWS usage was a continuum. CONCLUSION: Findings suggest that staff can encourage clients' KWS usage by imitating manual signs but that clients' response efficiency should also be taken into account.