Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome

Selten, Iris; Boerma, Tessel; Everaert, Emma; Vansteensel, Mariska J.; Vorstman, Jacob; Wijnen, Frank

doi:10.1016/j.ridd.2021.104109

Cited by 5 publications

(5 citation statements)

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“…School-aged children with 22q11DS (i.e., 6-to 12-yearolds) experience difficulties with semantics, syntactic accuracy and complexity, and narrative production and comprehension (Glaser et al, 2002;Moss et al, 1999;Persson et al, 2006;Rakonjac et al, 2016;Selten et al, 2021;Van Den Heuvel et al, 2018). Studies with participants in this age range typically report that children's receptive language impairment is more pronounced than the expressive language impairment, although both receptive and expressive language abilities lag behind age-adequate levels (Glaser et al, 2002;Marden, 1999; for an overview, see Van Den Heuvel et al, 2018).…”

Section: Language Abilities Of Children With 22q11dsmentioning

confidence: 99%

“…Studies with participants in this age range typically report that children's receptive language impairment is more pronounced than the expressive language impairment, although both receptive and expressive language abilities lag behind age-adequate levels (Glaser et al, 2002;Marden, 1999; for an overview, see Van Den Heuvel et al, 2018). Language skills of children with 22q11DS are also below what is expected given their level of intellectual functioning (Persson et al, 2006;Scherer et al, 1999;Selten et al, 2021;Van Den Heuvel et al, 2018).…”

Section: Language Abilities Of Children With 22q11dsmentioning

confidence: 99%

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The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility

Everaert

Selten

Boerma

et al. 2023

Am J Speech Lang Pathol

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Purpose: Young children with 22q11.2 deletion syndrome (22q11DS) often have impaired language development and poor speech intelligibility. Here, we report a comprehensive overview of standardized language assessment in a relatively large sample of preschool-aged children with 22q11DS. We furthermore explored whether speech ability explained variability in language skills. Method: Forty-four monolingual Dutch preschoolers (3–6 years) with a confirmed genetic 22q11DS diagnosis participated in this prospective cohort study. Standardized tests (Clinical Evaluation of Language Fundamentals Preschool-2-NL and Peabody Picture Vocabulary Test-III-NL) were administered. Speech intelligibility was rated by two expert speech and language therapists using a standardized procedure. Results: Most children had impaired language skills across all tested domains. The composite score for expressive language was significantly lower than that for receptive language, but the two were strongly correlated. Only small differences between the mean scores on the various subtests were observed, with the lowest scores for expressive morphosyntactic skills. Language scores showed a moderate positive relation with speech intelligibility, but language abilities varied greatly among the children with intelligible speech. Conclusions: We show that the majority of preschool children with 22q11DS have a broad range of language problems. Other than the relatively larger impairment in expressive than in receptive language skills, our results do not show a clearly delineated language profile. As many of the children with intelligible speech still had below-average language scores, we highlight that language problems require a broad assessment and care in all young children with 22q11DS. Future research using spontaneous language and detailed speech analysis is recommended, to provide more in-depth understanding of children's language profile and the relationship between speech and language in 22q11DS.

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Section: Language Abilities Of Children With 22q11dsmentioning

confidence: 99%

Section: Language Abilities Of Children With 22q11dsmentioning

confidence: 99%

The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility

Everaert

Selten

Boerma

et al. 2023

Am J Speech Lang Pathol

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“…Similar to what is reported in DLD, 22q11DS is associated with impaired language development across modalities and domains ( Everaert et al, 2023 ; Solot et al, 2019 ; van den Heuvel et al, 2018 ). Moreover, it has been shown that the language skills of children with 22q11DS are impaired beyond what can be expected given their overall cognitive level, which also corresponds to what is observed in many children with DLD ( Goorhuis-Brouwer et al, 2003 ; Norbury et al, 2016 ; Selten et al, 2021 ; Solot et al, 2001 ). One previous study investigated neurophysiological functioning during language processing and did not detect differences between children with 22q11DS and children with DLD (VanSteensel et al, 2021).…”

Section: Introductionmentioning

confidence: 63%

“…Overview of empirical studies that reported prevalence rates of ASD-diagnoses and the incidence of ASD-related behaviors in children that were diagnosed with or referred for DLD, and in whom presence of ASD or suspected ASD was excluded. 2016; Selten et al, 2021;Solot et al, 2001). One previous study investigated neurophysiological functioning during language processing and did not detect differences between children with 22q11DS and children with DLD (VanSteensel et al, 2021).…”

Section: Q112 Deletion Syndromementioning

confidence: 95%

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome

Selten

Boerma

Everaert

et al. 2023

Autism & Developmental Language Impairments

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Background and Aim. Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD). Method 44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0–6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning. Results Both the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD. Conclusion Both children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later. Implications Our findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties.

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“…Young children with 22q11.2DS typically experience delays in pre-linguistic behaviours, first words, and complex expressive language skills [13][14][15]. Communication difficulties tend to persist into later childhood and adolescence, where impairment is observed in the development of more complex language and conceptual understanding [14,15] and in the production and comprehension of narratives [16]. A lack of early fundamental expressive language has vast implications for the development of ageappropriate social communication and social cognition such as interpreting, reasoning, and predicting others' emotions and behaviours [17,18].…”

Section: Introductionmentioning

confidence: 99%

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Roche,

Flynn,

Campbell

2024

OBM Genet

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22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mothers were included if their child had a genetic diagnosis of 22q11.2DS and was aged from 3 to 12 years old. The mothers were asked a series of open-ended questions to explore the educational experiences of their child. We adopted an inductive approach to our data analysis and conducted a reflexive thematic analysis resulting in the emergence of 4 major themes (1.) The impact of 22q11.2DS on a child’s learning; (2.) The impact of adaptive behaviour skills on their child’s learning; (3.) The level of support available within the educational setting and; (4.) Mothers’ perceptions about their child’s learning. From these themes, the following 12 sub themes were identified: absences affecting learning; the development of specific learning behaviours; the impact of a 22q11.2 DS diagnosis on their child’s self-perception; toileting, motor issues; communication; sleep; school and teacher support and the presence (or absence) of therapists. Finally, the mothers’ confidence about their child’s learning; mothers’ concerns and comparisons of their child; and mothers’ apprehension about their child’s future were all identified as sub-themes. Children with 22q11.2DS require increased and specific psychosocial support to allow them greater opportunities to fully participate in their learning environments. Mothers perceived the level of support their child received was greater during pre-school compared to that received at primary school. It was clear that a greater understanding of the needs of children with 22q11.2DS, by educators, was needed. Implications for tailored support for school-based learning and educational transitions for young children with 22q11.2DS are discussed.

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Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome

Cited by 5 publications

References 38 publications

The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility

The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

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