Ellen Van Den Heuvel

Parental report on socio-communicative behaviours in children with 22q11.2 deletion syndrome

ABSTRACT Background Children with 22q11.2 deletion syndrome (22q11.2DS) are reported to have socio-communicative impairments. Although many of these children are diagnosed with intellectual disability (ID) and/or autism spectrum disorder (ASD), these populations are seldom used as control groups. Hence, information regarding syndrome-specific socio-communicative challenges is lacking. Method Parental concerns regarding everyday communication were investigated by means of the Children’s Communication Checklist-2-NL (Geurts, 2007). Twenty children with 22q11.2DS (chronological age: 6 years–13 years 3 months) were compared to 21 children with idiopathic ID and 23 children with idiopathic ID and comorbid ASD. All groups were matched for fluid intelligence (Gf), chronological age, and core language scores. Results Neglect or inadequate use of context information was more prevalent in children with 22q11.2DS than in children with idiopathic ID. Nonverbal communication seemed less impaired than in children with idiopathic ID + ASD. Conclusion Pragmatic language skills and developmental trajectories in children with 22q11.2DS merit further investigation.

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 childs individual social capacities.

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 childs 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.

Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6–12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. They seemed less impaired in terms of accounting for listener’s knowledge than children with IID+ASD. Children with WS showed greater difficulties with discourse management compared to children with IID and 22q11.2DS. They had similar levels of conversational impairments to children with IID+ASD but these were caused by different shortcomings. Over time taking account of listener’s knowledge became challenging for them. Findings suggest that children with 22q11.2DS and those with WS would benefit from conversational skills support and that regular re-evaluation is needed to anticipate conversational challenges.