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The importance of anthropological methods in the diagnosis of rare diseases

  • Agnieszka Różdżyńska-Świątkowska EMAIL logo und Anna Tylki-Szymańska
Veröffentlicht/Copyright: 27. März 2019
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 32 Heft 4

Abstract

Most of inborn errors of metabolism (IEMs) and rare endocrine-metabolic diseases (REMD) are rare diseases. According to the European Commission on Public Health, a rare disease is defined, based on its prevalence, as one affecting one in 2000 people. Many IEMs affect body stature, cause craniofacial abnormalities, and disturb the developmental process. Therefore, body proportion, dysmorphic characteristics, and morphological parameters must be assessed and closely monitored. This can be achieved only with the help of an anthropologist who has adequate tools. This is why the role of an anthropologist in collaboration with the physician in the diagnostic process is not to be underestimated. Clinical anthropologists contribute to assessing physical development and improve our understanding of the natural history of rare metabolic diseases. This paper presents anthropometric techniques and methods, such as analysis of demographic data, anthropometric parameters at birth, percentile charts, growth patterns, bioimpedance, somatometric profiles, craniofacial profiles, body proportion indices, and mathematical models of growth curves used in certain rare diseases. Contemporary anthropological methods play an important role in the diagnostic process of rare genetic diseases.

Keywords: body proportions; clinical anthropology; dysmorphic features; physical development; rare diseases
Corresponding author: Agnieszka Różdżyńska-Świątkowska, PhD, Anthropology Laboratory, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland

Acknowledgments

The authors wish thank the Polish MPS and Rare Diseases Society (Stowarzyszenie Chorych na Mukopolisacharydozę i Choroby Rzadkie), and in particular its President, Teresa Matulka.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. ARŚ: Interpretation of data, conception and design, conduct of the work, drafting and revising the article; ATS: Conduct of the work, drafting and revising the article.

  2. Research funding: No financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2018-10-15
Accepted: 2019-01-29
Published Online: 2019-03-27
Published in Print: 2019-04-24

©2019 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Review
  3. The importance of anthropological methods in the diagnosis of rare diseases
  4. Original Articles
  5. PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
  6. Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
  7. Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
  8. Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
  9. Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
  10. Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
  11. Adrenal function of extremely premature infants in the first 5 days after birth
  12. Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
  13. The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
  14. Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
  15. Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
  16. Short Communication
  17. Classical galactosemia patients can achieve high IQ scores
  18. Case Reports
  19. Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
  20. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
  21. A case report and literature review of monoallelic mutation of GHR
  22. Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
https://doi.org/10.1515/jpem-2018-0433
Schlagwörter für diesen Artikel
body proportions; clinical anthropology; dysmorphic features; physical development; rare diseases

Artikel in diesem Heft

  1. Frontmatter
  2. Review
  3. The importance of anthropological methods in the diagnosis of rare diseases
  4. Original Articles
  5. PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
  6. Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
  7. Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
  8. Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
  9. Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
  10. Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
  11. Adrenal function of extremely premature infants in the first 5 days after birth
  12. Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
  13. The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
  14. Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
  15. Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
  16. Short Communication
  17. Classical galactosemia patients can achieve high IQ scores
  18. Case Reports
  19. Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
  20. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
  21. A case report and literature review of monoallelic mutation of GHR
  22. Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
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