Intelligence, Cognition, and Psychopathology in Adults with Silver-Russell Syndrome: Overview of the Literature and Description of Three Clinical Cases.

OBJECTIVE

Research on the neuropsychological profile in individuals with Silver-Russell Syndrome (SRS), is scarce. The current study aims to enhance common clinical knowledge of SRS by exploring the syndrome related neuropsychological specificities previously described by literature and comparing those with neuropsychological findings in three adults with SRS.

METHODS

Literature search on intelligence, cognition, and psychopathology in SRS was carried out. Included articles defined SRS adults with known genetic etiology and provided objective measures available within the investigated domains. Analyzes of the latter was conducted through available data from neuropsychological assessment in three persons with SRS; one male with maternal 11p duplication and two females with H19 hypomethylation.

RESULTS

Analysis of the literature suggested specific cognitive profiles for individuals with different genetic variants. As to the presented cases, for the maternal 11p duplication, a higher variability of overall intellectual abilities and stronger verbal comprehension was found. Across all cases, overall intellectual abilities varied from mild intellectual disability to average level. No specific cognitive profile was found. Psychopathology presented itself either as externalizing or internalizing, and all cases reported negative life and/or learning experiences and self-esteem issues directly related to SRS.

CONCLUSION

Clinical cases' results were consistent with literature. Next to the prevailing focus on somatic aspects, current results support in-depth analysis of neuropsychological functioning as necessary to optimize care and reduce the risk of psychopathology during the life course in SRS. Further research and tailored selection of neuropsychological batteries is recommended to improve the understanding of the cognitive profile of SRS.