Evaluation for language and speech development in Kabuki make-up syndrome: a case report

Area of Science:

• Genetics and rare diseases
• Pediatric neurology
• Speech-language pathology

Background:

• Kabuki make-up syndrome (KMS) is a rare genetic disorder characterized by distinctive facial features, developmental delays, and multiple anomalies.
• This case involves a young boy with suspected KMS, presenting with speech delay and characteristic facial appearance.

Observation:

• A comprehensive evaluation included ENT, audiological, and developmental assessments (Denver II test).
• The patient exhibited normal hearing, general development, and receptive language skills, exceeding his chronological age.
• However, expressive language showed a 5-month delay, and specific speech sound distortions (/l/, /r/, /g/) were noted, along with observed diffidence and communication difficulties.

Findings:

• Contrary to typical KMS cases, this patient showed no intellectual disability, growth deficiency, or learning difficulties.
• Normal results were observed in five of the six assessed parameters.
• The primary finding was delayed development in expressive language and distorted articulation of certain speech sounds.

Implications:

• This case expands the phenotypic spectrum of Kabuki make-up syndrome, particularly regarding speech and language development.
• Early identification and targeted speech therapy may be beneficial for children with KMS and speech sound disorders.
• Long-term follow-up is planned to monitor for potential developmental and central auditory processing disorders.