Abstract
To evaluate exertional overheating and the impact of physical exercise on individuals with hypohidrotic ectodermal dysplasia (HED) and to assess protective effects of cooling devices, 13 boys and male adolescents with X-linked HED (XLHED) and age-matched healthy male controls were studied during standardized exercise on a bicycle ergometer at ambient temperatures of 25 and 30°C, without cooling and with evaporative skin cooling devices at 30°C. Body core temperature during and after exercise, heart rate, performance, endurance, and serum lactate were investigated. XLHED subjects experienced a significantly greater rise in body temperature after cycling than healthy controls, and their body temperature remained elevated longer. Maximum heart rates and lactate values did not differ significantly between XLHED and control groups. Application of skin cooling devices led to a clinically relevant attenuation of exertional hyperthermia in XLHED patients, and a previous tendency toward lower performance disappeared. This first systematic study of the effects of physical exercise on HED patients demonstrates a rapid and lasting body temperature increase in XLHED subjects after cycling, posing them at risk of exercise-induced hyperthermia. External evaporative skin cooling attenuates exertional overheating in HED patients and may facilitate their participation in athletic activities and professional life.
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Abbreviations
- HED:
-
hypohidrotic ectodermal dysplasia
- XLHED:
-
X-linked hypohidrotic ectodermal dysplasia
References
Itin PH, Fistarol SK 2004 Ectodermal dysplasias. Am J Med Genet 131C: 45–51
Mikkola ML 2009 Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet 149A: 2031–2036
Clarke A, Phillips DI, Brown R, Harper PS 1987 Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 62: 989–996
Salisbury DM, Stothers JK 1981 Hypohidrotic ectodermal dysplasia and sudden infant death. Lancet 1: 153–154
Marino FE 2002 Methods, advantages, and limitations of body cooling for exercise performance. Br J Sports Med 36: 89–94
Duffield R, Marino FE 2007 Effects of pre-cooling procedures on intermittent-sprint exercise performance in warm conditions. Eur J Appl Physiol 100: 727–735
McDermott BP, Casa DJ, Ganio MS, Lopez RM, Yeargin SW, Armstrong LE, Maresh CM 2009 Acute whole-body cooling for exercise-induced hyperthermia: a systematic review. J Athl Train 44: 84–93
Darwin C 1885 The Variations of Animals and Plants under Domestication. Vol. 2. 2nd ed. John Murray, London, pp 319–320
Blüschke G, Nüsken KD, Schneider H 2010 Prevalence end prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum Dev 86: 397–399
Mauldin EA, Gaide O, Schneider P, Casal ML 2009 Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet 149A: 2045–2049
Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P 2007 Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81: 1050–1056
Gaide O, Schneider P 2003 Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 9: 614–618
Inbar O, Morris N, Epstein Y, Gass G 2004 Comparison of thermoregulatory responses to exercise in dry heat among prepubertal boys, young adults and older males. Exp Physiol 89: 691–700
Falk B, Dotan R 2008 Children's thermoregulation during exercise in the heat: a revisit. Appl Physiol Nutr Metab 33: 420–427
Marshall SW 2010 Heat injury in youth sport. Br J Sports Med 44: 8–12
Howe AS, Boden BP 2007 Heat-related illness in athletes. Am J Sports Med 35: 1384–1395
González-Alonso J, Teller C, Andersen SL, Jensen FB, Hyldig T, Nielsen B 1999 Influence of body temperature on the development of fatigue during prolonged exercise in the heat. J Appl Physiol 86: 1032–1039
Nybo L 2008 Hyperthermia and fatigue. J Appl Physiol 104: 871–878
Ückert S, Joch W 2007 Effects of warm-up and precooling on endurance performance in the heat. Br J Sports Med 41: 380–384
Brade C, Dawson B, Wallman K, Polglaze T 2010 Postexercise cooling rates in 2 cooling jackets. J Athl Train 45: 164–169
Duffield R, Dawson B, Bishop D, Fitzsimons M, Lawrence S 2003 Effect of wearing an ice cooling jacket on repeat sprint performance in warm/humid conditions. Br J Sports Med 37: 164–169
Barr D, Reilly T, Gregson W 2011 The impact of different cooling modalities on the physiological responses in firefighters during strenuous work performed in high environmental temperatures. Eur J Appl Physiol 111: 959–967
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Supported by the German-Swiss-Austrian ectodermal dysplasia patient support group and by a grant from Pervormance GmbH (Ulm, Germany).This study is registered in the national registry of clinical trials (No. NCT01135888) at ClinicalTrials.gov.J.E.H. and V.N. contributed equally to this study.
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Hammersen, J., Neukam, V., NüSken, KD. et al. Systematic Evaluation of Exertional Hyperthermia in Children and Adolescents With Hypohidrotic Ectodermal Dysplasia: An Observational Study. Pediatr Res 70, 297–301 (2011). https://doi.org/10.1203/PDR.0b013e318227503b
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DOI: https://doi.org/10.1203/PDR.0b013e318227503b
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