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

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 differ-ences 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 impair-ment 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 prob-lems require a broad assessment and care in all young children with 22q11DS. Future research using spontaneous language and detailed speech analysis is rec-ommended, to provide more in-depth understanding of children's language profile and the relationship between speech and language in 22q11DS.

Automated summary

This study provides a comprehensive overview of language assessment in preschool-aged children with 22q11DS, revealing that the majority of children have language problems across different domains. Language ability is moderately related to speech intelligibility, but there is significant variability among children. Therefore, it is crucial to conduct a comprehensive assessment and provide care for language problems in all young children with 22q11DS.