ESPE2023 Poster Category 1 Growth and Syndromes (75 abstracts)
Evaluation of Cognitive Profiles in a cohort of patients with Turner Syndrome.
Emilio Casalini 1,2 , Letizia De Mori 2 , Alessia Angelelli 1,2 , Daniela Fava 1,2 , Giuseppa Patti 1,2 , Flavia Napoli 1 , Anna Elsa Maria Allegri 1 , Roberto Gastaldi 1 , Caterina Tedesco 1 , Tommaso Passarella 1,2 , Angela Pistorio 3 , Natascia Di Iorgi 1,2 & Mohamad Maghnie 1,2
1Pediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. 2Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI. University of Genova, Genova, Italy. 3Biostatistics Unit, Scientific Directorate, IRCCS Istituto Giannina Gaslini, Genova, Italy, Genova, Italy
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: mosaicism (n=14); Group C, X-ring chromosome (n=5); Group D, miscellaneous karyotypes (n=17)] were assessed using Wechsler Scales: WISC IV (6-16.11 years), WAIS-IV (≥ 16 years) and WPPSI-IV (2.6-3.11 years). The parameters measured for each scale were the intellectual quotient (IQ), the Verbal comprehension index (VCI), the Perceptual Reasoning Index (PRI), the Working Memory Index (WMI), and Processing Speed Index (PSI). Information’s about pubertal development and growth hormone (rhGH) therapy were collected.
Results: Mean age at cognitive evaluation was 15,02 ± 7,69 (range 3,03-34,08, median 15,04). Regarding puberty, 13 patients (26%) were prepubertal, 28 patients (57%) were under hormone replacement therapy (HRT) at the time of evaluation; 8 patients (16%, 7 Group B and 1 Group A) have spontaneous puberty. Regarding GH treatment, 9 patients (18%) were GH naïve (awaiting treatment), 22 patients (48%) were under treatment and 18 patients (36%) have reached adult height discontinuing rhGH. The median overall IQ score was (73,12 ± 17,59 SDS; range 34-103) significantly lower in group C (52,4 ±12,13; 34-65) compared to other patient’s groups (P=0,03 to Group A, P=0,057 to Group B, and P=0,007 to Group D). Twenty-one patients (42%) had overall IQ score lower than normative data (42% of Group A, 28% of Group B, 100% of Group C and 35% of Group D). No differences were found in IQ scores in patient with spontaneous puberty vs patients under HRT. VCI, PRI, and PSI were significantly lower in patients of Group C compared to the patients of Groups B and D: although the VCI, PRI and PSI values were lower, no statistical differences were found between Groups C and A.
Conclusions: Distinct cognitive functioning is affected in TS and should be assessed during follow-up to avoid undiagnosed school/academic difficulties. Patients with X-ring chromosome have worse cognitive profiles than patients with different karyotypes. Cognitive assessments and interventions are warranted from an early age and should be part of healthcare assessment in order to enable these girls to develop their full potential.
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