Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.
Objective and hypotheses: The primary end point was to evaluate neurological and cognitive state in SRS children. The secondary end point was the comparison of the two groups UDP7 and 11p15.
Method: Neuropsychological assessments, including evaluation of intellectual efficiency, cognitive functions, and learning abilities, were performed in 30 patients (17 males, 13 females), aged 6 to 11 years (mean age 7, 5 years) followed at Trousseau Pediatric Hospital (France) from 2008 to 2016.
Results: Mean overall IQ score in the total SRS sample was 93.36 with a range between 52118 (the mean IQ in 11p15 group was 97; the mean IQ in UDP7 group was 90.6). 57% of all children needed speech therapy especially in UDP7 group (90% of UDP7 children). A correlation between low birth weight and low IQ has been found, as well as a correlation between birth head circumference and Processing Speed Index (PSI). We have found a link between severe hypoglycemia and low Perceptual Reasoning Index (PRI) and a correlation between enteral nutrition and IQ and lower PRI. Verbal comprehension Index (VCI) is lower in UDP7 children than in 11p15. 2 children with UDP7 had myoclonus.
Conclusion: We conclude that a cognitive assessment is necessary in SRS patients and UDP7 children should be monitored for the development of movement disorders. We underline the importance to educate parents to prevent hypoglycemia and to recognize the early signs of hypoglycemia.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology