Clinical features of Angelman syndrome patients with UPD of the patient in this study and patients from previous reports.Frontiers in Genetics | www.frontiersin.org

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Context 1

... the age of 5 years, he was assessed using the Autism Diagnosis Observation Schedule (ADOS)-Module 1 by a developmental pediatrician. His scores for communication were 4 (cutoff 4), 8 for reciprocal social interaction (cutoff 7), and 1 for repetitive behaviors (Supplementary Table S1). The scores were consistent with a diagnosis of autistic disorder. ...

Context 2

... case adds to the pool of milder phenotypes in AS patients with UPD compared to a typical AS patients with deletions. A summary of the clinical features of our case and other AS cases with UPD is shown in Table 1. Of note, ataxic gait and frequent laughter/happy demeanor as consistent (100%) clinical features of patients with AS as claimed in a previous report (Williams et al., 2006) were not present in all AS patients with UPD in our literature review (Fridman et al., 2002;Poyatos et al., 2002;Thompson and Bolton, 2003;Varela et al., 2004;Saitoh et al., 2005;Bonati et al., 2007;Depienne et al., 2009;Horváth et al., 2013;Luk and Lo, 2016), supporting our hypothesis that AS resulting from UPD can manifest as a milder AS phenotype. ...