The Cleveland Family Speech and Reading Study: A Review of Long-Term Outcomes Linking Phenotypes and Genotypes for Speech Sound Disorders.
Barbara A Lewis, Gabrielle J Miller, Penelope Benchek and 2 others
PMID 41118674WHAT IT FOUND
Adolescents with persistent speech sound disorders or childhood apraxia of speech showed significant reading and language deficits compared to peers.
Even those whose speech errors resolved continued to struggle with literacy, indicating that speech outcomes do not guarantee reading success.
Key findings
01Adolescents with persistent speech sound disorders or those with low multisyllabic word repetition scores performed significantly worse on reading and language measures than those whose disorders had resolved.
02Both persistent and non-persistent groups of adolescents with a history of childhood apraxia of speech scored below average on reading identification and decoding tests.
03Genetic analysis revealed that childhood apraxia of speech is associated with diverse structural variants and de novo mutations, suggesting it is a heterogeneous group of neurologic conditions rather than a single genetic disorder.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The sample size for genetic analysis was relatively small, limiting the power to detect common variants. The adult sample size was too small for robust statistical analysis of long-term adult outcomes. Key endophenotype measures like nonword repetition and multisyllabic word repetition were not standardized on control groups without a family history of SSD, limiting their normative utility. Family history questionnaires were found to be inaccurate for 10-18% of cases when compared to direct testing, suggesting reliance on parent report alone is insufficient for precise phenotyping.
Declared interests
The research was supported by the National Institute on Deafness and Other Communication Disorders (NIDCD) through several awards. The authors declared no other conflicts of interest.
The easy way to misread this
Do not interpret the genetic findings as a recommendation for routine clinical genetic testing for all patients with SSD. The authors recommend screening for CAS specifically due to the high rate of structural variants, but note that clinical implementation requires careful interpretation and that most genetic variants identified are not yet actionable for therapy selection.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →