Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS)
Language impairment in SLOS reflects contributions from disease severity, disrupted cholesterol metabolism, and ASD. Receptive language showed stronger biomarker associations, while expressive impairments were more pervasive. Integrating clinical, biochemical, and caregiver-report tools is critical for comprehensive assessment of individuals with SLOS.
Authors
- Elaine Tierney (ORCID: https://orcid.org/0000-0002-8546-3383)
- Stephanie M. Morris
Institutions
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
Publication Details
- Journal
- Journal of Rare Diseases
- Published
- 2025-09-19
- DOI
- https://doi.org/10.1007/s44162-025-00119-5
- Citations
- 1
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 2.01