Objective: Sotos syndrome is characterized by overgrowth, macrocephaly, and distinctive craniofacial features. Many studies report high rates of Intellectual Disability (ID; >70%), but objective information regarding cognitive functioning and academic achievement is rarely provided. Despite difficulty with development and emotional functioning, comprehensive neuropsychological assessment is not a standard component of patient care. Method: Two patients, ages 5 and 18, completed comprehensive evaluations assessing cognitive functioning, emotional/behavioral adjustment, and adaptive skills. Results: Both patients demonstrated general intellectual functioning in the average to low average range, although the older patient's Full Scale IQ was suppressed by low working memory and processing speeds skills. The older patient's academic skills were globally suppressed, while the younger patient's pre-academic skills were intact. Consistent with the literature, parents of both patients endorsed problems with executive function, inattention, irritability, and anxiety. Despite low average IQ, the older patient's adaptive functioning was severely impaired, and parents were encouraged to apply for guardianship. Conclusion: Relying on FSIQ as a measure of general intelligence may result in over diagnosis of ID in Sotos syndrome due to the influence of working memory and processing speed. Neurologic changes (e.g., enlarged ventricles; irregularity of midline structures) are common, and some studies recommend neuroimaging as standard of care. However, imaging data was not available for these patients. Early learning difficulty may be absent in this population, but deficits commonly occur as academic material increases in complexity. Early assessment and monitoring is imperative to intervene with learning concerns that are reported in more than 90% of patients.
Sotos Syndrome: The Need for Comprehensive Assessment Across the Lifespan
Arch Clin Neuropsychol (2015) 30 (6): 550-551.
25 August 2015
E Krapf, L Stanford, D Pulsipher; B-76
Sotos Syndrome: The Need for Comprehensive Assessment Across the Lifespan. Arch Clin Neuropsychol 2015; 30 (6): 550-551. doi: 10.1093/arclin/acv047.171
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