The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function

Objective To investigate the cognitive, behavioral and adaptive functioning of children with Shwachman-Diamond syndrome (SDS). Study design Thirty-two children with SDS (6-17 years) were evaluated by use of standardized neuropsychological tests. Results were compared with normative data, unaffected siblings (n = 13), and age- and sex-matched children with cystic fibrosis (CF; n = 20). Results Although intragroup variability in performance was evident, children with SDS displayed weaker overall intellectual reasoning, higher-order language skills, perceptual reasoning, visual-motor processing speed, visual motor- integration, visual executive problem-solving, attention, and aspects of academic achievement, as well as lower functional level of independence relative to the general population. Significant issues with behavior were also identified, including prior formal diagnoses and social problems. Lower abilities were found relative to sibling and CF control subjects and were not associated with secondary complications of SDS, age, or sex. Conclusion Neurocognitive deficits in subjects with SDS are largely independent of family environment and having a chronic illness and are likely the consequences of Shwachman-Bodian-Diamond syndrome gene dysfunction. There is a need for a broad-based approach to the assessment of cognitive function and appropriate remediation of individuals with SDS. (J Pediatr 2010;156:433-8).