Abstract
Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)—a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.
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Funding
This study was funded by the Foundation for Prader-Willi Research.
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CPS conceived of the study and participated in its design and coordination. LNB and RPGK performed neurobehavioral assessments. LRD assisted with neurobehavioral assessments, scoring, and data collection. JM helped with patient recruitment and data collection. MMT drafted the manuscript, performed statistical analyses, and created figures presented in the manuscript.
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R.P.G.-K. would like to disclose that she recently entered into an agreement with Yamo Pharmaceuticals, LLC, to provide consulting services in clinical trial development. This relationship is unrelated to the current project and was initiated following completion of data collection. The remaining authors declare that they have no conflict of interest.
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All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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Informed consent was obtained from all individual participants included in the study.
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Thomason, M.M., McCarthy, J., Goin-Kochel, R.P. et al. Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. J Autism Dev Disord 50, 2491–2500 (2020). https://doi.org/10.1007/s10803-018-3775-7
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DOI: https://doi.org/10.1007/s10803-018-3775-7