Early communication characteristics of a child with SATB2-associated Syndrome: a case report

Abstract

Background: There is limited literature on the early communication characteristics of children with SATB2-associated syndrome, a rare genetic disorder that has a profound impact on speech and language. Understanding these characteristics can guide early intervention and therapy selection. Purpose: This case report describes the early communication development of one child with SATB2-associated syndrome from 14 months to five years and six months. Method: The child’s communication profile was developed from retrospective and prospective data. Clinical assessments at 14, 26, and 38 months examined hearing, language, gestures, speech, and play, and a caregiver interview provided additional perspectives. Results: Convergent findings from the retrospective file review and prospective semi-structured interview revealed moderate-to-severe delays across all communication domains. Receptive language and gesture use improved, whereas expressive language gains were limited. The child mostly used single words, emerging sound combinations, basic gestures, and mainly nonverbal means (eye contact, facial expressions) for expression. South African Sign Language and a picture communication board were also frequently used to express herself. Fine motor difficulties partly limited signing, and comprehension remained moderately delayed. Discussion: Unique features included slow consonant acquisition, mis-articulations, and reduced signing intelligibility. Early, multimodal intervention using AAC, signs, and caregiver-led strategies supported functional communication, participation, and receptive language development, emphasizing the need for multi-partner, multidisciplinary support. Conclusions: This study illustrates pervasive communication delays in a child with SATB2-associated syndrome from 14 months and underscores the value of early multimodal and AAC- interventions to enhance communication, reduce frustration, and behavioural challenges. These insights may inform early intervention for similar children.