Cognitive profiles and brain volume are affected in patients with Silver–Russell syndrome

Abstract

Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational age (SGA). Children with SRS show typical features, including relative macrocephaly, prominent forehead, body asymmetry, feeding difficulties and cognitive delay (1)(2). SRS patients with 11p15 LOM show high IGF1 levels suggestive of IGF1 insensitivity. IGF1 is implicated in brain development, in particular with neural proliferation and cognitive function (2)(3).