ESPE Abstracts

ESPE Abstracts

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hrp0092rfc12.5 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Cognitive and Neuroradiological Assessments in Silver Russell Patients

Patti Giuseppa , De Mori Letizia , Tortora Domenico , Savina Severino Maria , Calevo Mariagrazia , Morana Giovanni , Rossi Andrea , Casalini Emilio , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...
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hrp0097p1-519 | Growth and Syndromes | ESPE2023

Evaluation of Cognitive Profiles in a cohort of patients with Turner Syndrome.

Casalini Emilio , De Mori Letizia , Angelelli Alessia , Fava Daniela , Patti Giuseppa , Napoli Flavia , Elsa Maria Allegri Anna , Gastaldi Roberto , Tedesco Caterina , Passarella Tommaso , Pistorio Angela , Di Iorgi Natascia , Maghnie Mohamad

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...
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