Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
Abstract
:1. Introduction
2. Patients and Methods
2.1. Design and Study Population
2.2. Anthropometric Measurements and Body Composition
2.3. Cognition
2.4. Statistical Analysis
2.5. Ethical Consideration
3. Results
3.1. Genetic Diagnosis
3.2. Pregnancy and Delivery
3.3. Growth and Maturation
3.4. Development and Behavior
3.5. Body Composition
3.6. Other Findings
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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UPD(14)mat | Methylation Defect | Total | |
---|---|---|---|
Number | 8 | 7 | 15 |
Sex (male:female) | 5:3 | 3:4 | 8:7 |
Age at examination (y) | 10.76 (5.32; 15.64) | 7.00 (2.76; 9.99) | 9.02 (4.71; 12.47) |
Age of diagnosis (y) | 2.55 (1.45; 4.63) | 6.94 (2.46; 9.75) | 3.50 (2.04; 7.00) |
Perinatal | |||
Gestational age | 39.8 (37.48; 40.00) | 37.60 (37.00; 40.10) | 39.6 (37.10; 40.00) |
Premature delivery | 1/8 (13%) | 0/7 (0%) | 1/15 (7%) |
Prenatal growth failure | 8/8 (100%) | 7/7 (100%) | 15/15 (100%) |
Birth weight-SDS | −2.84 (−3.38 to −2.36) | −1.53 (−2.64 to −0.91) | −2.51 (−3.10 to −1.40) |
SGA | 7/8 (88%) | 3/7 (43%) | 10/15 (67%) |
Growth | |||
Short stature (before GH treatment) | 4/8 (50%) | 3/7 (43%) | 7/15 (47%) |
(history of) GH treatment | 5/8 (63%) | 1/7 (14%) | 6/15 (40%) |
Height-SDS before GH treatment | −2.06 (−3.24; −1.22) | −0.26 (−2.64; 0.19) | −1.80 (−2.95; −0.22) |
Height-SDS at examination | −1.05 (−1.79 to 0.18) | −0.26 (−2.54; 0.19) | −0.63 (−1.88 to 0.19) |
Bone age at examination | 10.65 (5.35; 15.41) | 8.80 (2.80; 12.00) | 9.00 (5.17; 14.25) |
Height-SDS corrected for bone age | −1.03 (−1.38; −0.29) | −2.07 (−2.72; −1.42) | −1.42 (−2.54; −0.79) |
BMI | |||
BMI-SDS before GH treatment | 1.24 (−1.06; 2.11) | 1.50 (−2.28; 2.25) | 1.45 (−1.17; 2.18) |
BMI SDS at examination | 1.34 (−0.28; 2.17) | 1.45 (−2.28 to 1.54) | 1.45 (−0.73 to 1.68) |
Puberty | |||
Precocious puberty * | 4/5 (80%) | 4/4 (100%) | 8/9 (89%) |
(History of) GnRH treatment | 4/8 | 2/7 | 6/15 |
Duration of GnRH-treatment (months) | 48.00 (44.25; 63.00) | 43.50 † | 46.00 (43.00; 53.00) |
Developmental status | |||
Total IQ | 87.00 (79.00; 95.00) | 98.00 (87.00; 109.00) | 91.50 (84.25; 100.00) |
Verbal IQ | 98.00 (85.00; 100.00) | 106.00 (94.00; 115.00) | 98.50 (94.00; 108.75) |
Performance IQ/visual-spatial | 87.00 (80.00; 94.00) | 95.00 (83.00; 98.00) | 89.00 (82.25; 97.25) |
Intellectual disability (IQ < 70) | 0/8 (0%) | 0/7 (0%) | 0/15 (0%) |
Special education | 4/8 (50%) | 3/5 (60%) | 7/13 (54%) |
Psycho-behavioral problems | 5/8 (63%) | 3/7 (43%) | 8/15 (53%) |
Body composition | |||
FM% | 44.10 (35.55; 50.38) | 39.70 (33.80; 44.40) | 41.10 (34.30; 48.50) |
FM% SDS | 2.56 (2.32; 2.88) | 2.54 (0.96; 2.95) | 2.53 (2.26; 2.90) |
LBM SDS | −2.12 (−3.08; −1.32) | −1.75 (−3.63 to −1.28) | −2.03 (−3.22 to −1.28) |
Other findings | |||
Hypotonia | 8/8 (100%) | 7/7 (100%) | 15/15 (100%) |
Small hands and/or feet | 8/8 (100%) | 7/7 (100%) | 15/15 (100%) |
Simian crease | 4/8 (50%) | 3/7 (43%) | 7/15 (47%) |
Joint hypermobility | 6/8 (75%) | 4/7 (57%) | 10/15 (67%) |
Scoliosis | 3/8 (38%) | 2/7 (29%) | 5/15 (33%) |
Tube feeding after birth | 6/8 (75%) | 2/7 (29%) | 8/15 (53%) |
Overweight/obesity | 2/8 (25%) | 3/7 (43%) | 5/15 (33%) |
Hyperphagia | 4/8 (50%) | 3/7 (43%) | 7/15 (47%) |
Recurrent otitis media | 4/8 (50%) | 2/7 (29%) | 6/15 (40%) |
Anosmia | 0/8 (0%) | 2/7 (29%) | 2/15 (13%) |
Bifid uvula/cleft palate | 1/8 (13%) | 2/7 (29%) | 3/15 (20%) |
SRS according to NH-CSS | 1/8 (13%) | 1/7 (14%) | 2/15 |
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Juriaans, A.F.; Kerkhof, G.F.; Mahabier, E.F.; Sas, T.C.J.; Zwaveling-Soonawala, N.; Touwslager, R.N.H.; Rotteveel, J.; Hokken-Koelega, A.C.S. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients. J. Clin. Med. 2022, 11, 6289. https://doi.org/10.3390/jcm11216289
Juriaans AF, Kerkhof GF, Mahabier EF, Sas TCJ, Zwaveling-Soonawala N, Touwslager RNH, Rotteveel J, Hokken-Koelega ACS. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients. Journal of Clinical Medicine. 2022; 11(21):6289. https://doi.org/10.3390/jcm11216289
Chicago/Turabian StyleJuriaans, Alicia F., Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel, and Anita C. S. Hokken-Koelega. 2022. "Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients" Journal of Clinical Medicine 11, no. 21: 6289. https://doi.org/10.3390/jcm11216289