Speech, Language and Communication in Children With KBG Syndrome

Speech, language and communication needs (SLCN) are frequently reported in KBG syndrome yet no study has investigated them using standardised assessments. This study aimed to characterise the communicative abilities of children with KBG syndrome using a combination of caregiver-reported questionnaires and adapted online speech and language assessments.

Sixteen UK and US families of children with KBG syndrome (aged 3-14 years old) took part. In phase 1 of the study, caregivers (n = 16) completed online questionnaires about the child's medical and developmental history, communication ability and adaptive behaviour. In phase 2 of the study, children (n = 10) completed adapted online assessments of speech sound skills, oro-motor function, morphosyntactic ability, receptive vocabulary and sentence comprehension. Six families did not complete phase 2 due to attrition.

All of the 16 children included were reported to communicate using sentences. Caregiver-reported data revealed that 12/12 children assessed using the Child Communication Checklist-2 had significant communication challenges and 12/13 assessed using the Vineland Adaptive Behaviour Scales experienced differences in adaptive behaviour compared with typically developing children. Among the children assessed directly, 7/10 had speech sound skills that were not age-appropriate and 7/9 exhibited oro-motor difficulties. Six out of 10 children had lower than average receptive vocabulary, 5/10 had lower than average sentence comprehension and 5/8 had lower than average morphosyntactic processing.

The findings indicate that SLCN are important phenotypic features of KBG syndrome, with speech and oro-motor difficulties appearing to be particularly pervasive. This underscores the need to prioritise the assessment and monitoring of SLCN in children with KBG syndrome to provide opportunity for early and targeted intervention.