Silver-Russell syndrome is a rare genetic imprinting disorder. Two molecular causes of Silver-Russell syndrome have been identified: loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 (matUPD7). Current understanding of the cognitive and behavioral phenotypes associated with these two molecular subtypes is limited. This study aimed to address this gap in the literature. The Social Responsiveness Scale (SRS-2) was used to assess autistic traits in individuals with 11p15 LOM (n = 47) and matUPD7 (n = 32). A subset of participants with 11p15 LOM (n = 18) and matUPD7 (n = 15) completed in-person assessments: the Autism Diagnostic Observation Schedule (ADOS-2) and the British Ability Scales (BAS3). Overall, 37.50% of the matUPD7 group and 10.64% of the 11p15 LOM group scored above the SRS-2 severe clinical cut-off. Based on the ADOS-2, 33.33% of the matUPD7 participants and 11.11% of the 11p15 LOM participants scored above cut-off for autism spectrum/autism. Intellectual ability was significantly lower in the matUPD7 group (M = 79.86) compared with the 11p15 LOM group (M = 98.56). However, there was no evidence of an uneven cognitive profile associated with either group or of an association between autistic traits and intellectual ability. Although both 11p15 LOM and matUPD7 have the same clinical diagnosis of Silver-Russell syndrome, there are some differences in the cognitive and behavioral phenotypes between these two molecular subtypes. This has implications for considering access to services, intervention, and support within these populations, particularly in relation to learning and behavior. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

中文翻译：

---

与 Silver-Russell 综合征的两个分子原因相关的自闭症特征和认知能力。

Silver-Russell 综合征是一种罕见的遗传印记疾病。Silver-Russell 综合征的两个分子原因已被确定：染色体 11p15 (11p15 LOM) 的甲基化缺失和染色体 7 (matUPD7) 的母体单亲二体性。目前对与这两种分子亚型相关的认知和行为表型的理解是有限的。本研究旨在解决文献中的这一空白。社会反应量表 (SRS-2) 用于评估 11p15 LOM (n = 47) 和 matUPD7 (n = 32) 个体的自闭症特征。具有 11p15 LOM (n = 18) 和 matUPD7 (n = 15) 的参与者子集完成了现场评估：自闭症诊断观察计划 (ADOS-2) 和英国能力量表 (BAS3)。总体而言，matUPD7 组的 37.50% 和 10. 64% 的 11p15 LOM 组得分高于 SRS-2 严重临床临界值。根据 ADOS-2，33.33% 的 matUPD7 参与者和 11.11% 的 11p15 LOM 参与者的自闭症谱系/自闭症得分高于截止值。与 11p15 LOM 组 (M = 98.56) 相比，matUPD7 组 (M = 79.86) 的智力显着降低。然而，没有证据表明与任一组或自闭症特征与智力能力之间存在关联的认知特征不均匀。尽管 11p15 LOM 和 matUPD7 都具有相同的 Silver-Russell 综合征临床诊断，但这两种分子亚型之间的认知和行为表型存在一些差异。这对考虑在这些人群中获得服务、干预和支持有影响，特别是在学习和行为方面。（PsycINFO 数据库记录 (c) 2019 APA，保留所有权利）。