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

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

Genetic, Maternal and Placental Factors in the Association between Birth Weight and Physical Fitness: A Longitudinal Twin Study

Adult cardiorespiratory fitness and muscle strength are related to all-cause and cardiovascular mortality. Both are possibly related to birth weight, but it is unclear what the importance is of genetic, maternal and placental factors in these associations.status: publishe

Regression Coefficients for Birth Weight in the Individual Analysis.

<p>Results were obtained by use of a three-level random intercept, random slope (for time) model.</p><p>Model 1: birth weight, gestational age, time point and sex.</p><p>Model 2: model 1+zygosity-chorionicity, smoking, physical activity, height and weight (the latter not included in the V02 peak models).</p><p>Model 3: model 2+parental BMI.</p

Regression Coefficients for Δ Birth Weight in MZ and DZ twins (Pair Wise, Stratified Analysis).

<p>Results were obtained by use of a two-level random intercept, random slope (for time) model.</p><p>Model 1: Δ birth weight and time point.</p><p>Model 2: model 1+chorionicity, Δ physical activity, Δ height and Δ weight (the latter not included in the V02 peak models).</p><p>MZ: Monozygotic, DZ: Dizygotic.</p

Average maximum oxygen uptake in birth weight quarters.

<p>Q1–Q4: Birth weight quarter 1–4 (Q1 = lowest quarter).</p

Regression Coefficients for Birth Weight: Mean of the Twin Pair and Difference within the Twin Pair.

<p>Results were obtained by use of a three-level random intercept, random slope (for time) model.</p><p>Model: birth weight, gestational age, time point, sex, zygosity-chorionicity, smoking, physical activity, height, weight (not included in the V02 peak models) and parental BMI.</p

Twin Characteristics at the Start of the Study.

*<p>For description purposes, smoking was analyzed for the final measuring moment instead of at the start of the study.</p><p>Results are given as mean ± SD, median [interquartile range] or as n (%).</p><p>MZ: monozygotic, DZ: dizygotic,</p>**<p>Comparison MZ and DZ twins <0.05 (t-test).</p