Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review
Lucas N. Raniolo, Ruth O. Braden, Jana von Hehn, John Christodoulou, David N. Lieberman, David J. Amor, Adam P. VogelAbstract
Aim
To provide a systematic overview of speech, language, and social abilities of people with Rett syndrome (RTT), and identify the most frequently used communication assessments in the literature.
Method
A systematic search of PubMed, CINAHL, ScienceDirect, ERIC, and speechBITE databases was conducted using terms synonymous with RTT, speech, language, social, and clinical assessment. Two independent reviewers screened abstracts; one reviewer conducted full‐text screening, communication‐related data extraction, and quality appraisal, with verification by a senior author of a subset of full‐text articles.
Results
A total of 3091 papers were identified after removal of duplicates, of which 59 met inclusion criteria. Severe communication impairment emerged as a core feature of RTT, across classic and atypical variants, to differing degrees. Expressive language and speech production were most severely affected. Atypicality in all communication domains was reported both pre‐ and post‐regression. Genetic (e.g. MECP2 variant) and developmental (e.g. age) factors modulated ability; poorer outcomes often linked to early truncations and large deletions. Most assessments relied on caregiver report.
Interpretation
Speech–language difficulties are ubiquitous in RTT, ranging from mild to profound. Objective assessment is limited by severe motor‐speech impairment and a reliance on caregiver report; flexible and/or more granular tools are necessary. The use of both objective (e.g. acoustic analysis) and subjective (e.g. caregiver recall) measures is warranted for characterizing speech–language ability.