Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.

Autor: Juriaans AF; Dutch Reference Center for Prader-Willi Syndrome/Prader-Willi-like, 3015 CN Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus MC/Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, Westzeedijk 106, 3016 AH Rotterdam, The Netherlands., Kerkhof GF; Dutch Reference Center for Prader-Willi Syndrome/Prader-Willi-like, 3015 CN Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus MC/Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Mahabier EF; Dutch Reference Center for Prader-Willi Syndrome/Prader-Willi-like, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, Westzeedijk 106, 3016 AH Rotterdam, The Netherlands., Sas TCJ; Department of Pediatrics, Subdivision of Endocrinology, Erasmus MC/Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Diabeter-Center for Pediatric and Adult Diabetes Care and Research, 3011 TA Rotterdam, The Netherlands., Zwaveling-Soonawala N; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Touwslager RNH; Department of Pediatrics, Subdivision of Endocrinology, Wilhelmina Children's Hospital, Utrecht University Medical Center, 3584 EA Utrecht, The Netherlands., Rotteveel J; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Hokken-Koelega ACS; Dutch Reference Center for Prader-Willi Syndrome/Prader-Willi-like, 3015 CN Rotterdam, The Netherlands.; Department of Pediatrics, Subdivision of Endocrinology, Erasmus MC/Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Dutch Growth Research Foundation, Westzeedijk 106, 3016 AH Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2022 Oct 25; Vol. 11 (21). Date of Electronic Publication: 2022 Oct 25.
DOI: 10.3390/jcm11216289
Abstrakt: Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader-Willi-like, Silver-Russell-like or as a Silver-Russell spectrum disorder.
Methods: This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader-Willi-like from December 2018 to January 2022.
Results: Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR) (100%), hypotonia (100%), precocious puberty (89%), small for gestational age (SGA) birth (67%), tube feeding after birth (53%) and psycho-behavioral problems (53%). Median (interquartile range (IQR)) IQ was 91.5 (84.25; 100.0), whilst many patients were enrolled in special education (54%). The median (IQR) fat mass % (FM%) SDS was 2.53 (2.26; 2.90) and lean body mass (LBM) SDS -2.03 (-3.22; -1.28). There were no significant differences in clinical characteristics between patients with a UPD(14)mat and a methylation defect.
Conclusions: Our patients share a distinct phenotype consisting of IUGR, SGA birth, precocious puberty, hypotonia, tube feeding after birth, psycho-behavioral problems and abnormal body composition with a high FM% and low LBM. Whilst similarities with Prader-Willi syndrome (PWS) and Silver-Russell syndrome (SRS) exist, TS14 is a discernible syndrome, deserving a tailored clinical approach. Testing for TS14 should be considered in patients with a PWS or SRS phenotype in infancy if PWS/SRS testing is negative.
Databáze: MEDLINE
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