Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Vollständiger Abstract

Worum geht es in dieser Arbeit?

ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations enrolled in the North American SDS Registry to characterize neuropsychological, psychiatric, educational, functional, and neuroimaging outcomes. Medical records were reviewed, and neuropsychological scores were converted to z ‐scores and categorized as weakness (1.0–1.4 SD below the mean) or impairment (≥1.5 SD below the mean). Results Fourteen individuals completed formal neuropsychological evaluations (mean age 10.66 years). Median full‐scale IQ z ‐score was −0.47 (SD 1.28), with 41.7% demonstrating intellectual weakness or impairment. Adaptive functioning showed the highest rate of impairment (100%). Executive functioning, visual‐motor integration, spelling, and mathematics were commonly affected, whereas immediate verbal learning was preserved. Longitudinal data from five patients demonstrated stable overall intellectual and generally stable adaptive functioning over time, with variability in higher order cognitive and psychosocial domains. Educational support needs were substantial: 73.9% required specialized educational programs and 51.9% had an individualized education program. Neurodevelopmental disorders were reported in 49% of those with available data, most commonly attention‐deficit/hyperactivity disorder, and 23.5% had mental health diagnoses, most frequently anxiety. Neuroimaging was abnormal in a subset, most often reflecting structural brain differences. Conclusions These findings indicate that individuals with SDS are at elevated risk for neurocognitive weaknesses and significant educational needs. Although global intellectual functioning appears relatively stable over time, domain‐specific vulnerabilities and adaptive impairment warrant routine neuropsychological monitoring and early intervention.