Pola sidik jari (Dermatoglifi) sebagai metode skrining diagnostik Sindrom Down pada anak

I Made Adi Narendranatha Komara; I Putu Oka Kresna Jayadi; I Gusti Ayu Gayatri Sidemen; Putu Triyasa; I Ketut Tangking Widiarsa; Sagung Putri Permana Lestari Murdhana Putere

doi:10.15562/ism.v11i2.610

Pola sidik jari (Dermatoglifi) sebagai metode skrining diagnostik Sindrom Down pada anak

I Made Adi Narendranatha Komara ,

I Putu Oka Kresna Jayadi ,

I Gusti Ayu Gayatri Sidemen ,

Putu Triyasa ,

I Ketut Tangking Widiarsa ,

Sagung Putri Permana Lestari Murdhana Putere ,

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DOI: https://doi.org/10.15562/ism.v11i2.610 |
Published: 2020-08-01

Abstract

Background: Fluorescence in Situ Hybridization (FISH) or complete chromosomal examination (karyotyping) is an examination of the gold standard in the diagnosis of Down syndrome, but it is quite expensive, so not all people in the society can use it. The purpose of this study was to determine the differences between the mean frequency of dermatoglyphics occurrence patterns and to determine the level of sensitivity and specificity of dermatoglyphics diagnostic tests on people with Down Syndrome.

Methods: The method used in this study was observational analytic with a cross sectional study on 28 children who have Down syndrome derived from SLB C Negeri Tuna Grahita and 28 normal children of primary school 14 Dauh Puri. Data analysis using Independent T-test, a diagnostic test with sensitivity and specificity parameters was conducted by Receiver Operating Characteristic (ROC) curve. Data were analyzed using SPSS version 17 for Windows.

Results: The results showed that on average, the highest percentage fingerprint patterns in people with Down syndrome are ulnar loops with a mean 6.39, whereas in normal children is a whorl with a mean 2.25. The diagnostic test, ulnar loop pattern, has the highest degree of accuracy with a cut-off=4 followed by sensitivity value 1 (0.87 to 1) and a specificity 1 (0.87 to 1).

Conclusion: There are differences in the frequency of occurrence of fingerprint patterns in children with Down syndrome and normal children, as well as the patterns of the ulnar loop has the highest accuracy rate of sensitivity and specificity of the diagnostic test.

Latar Belakang: Fluorescence in Situ Hybridization (FISH) atau pemeriksaan kromosom lengkap (kariotyping) merupakan pemeriksaan baku emas dalam penegakan diagnosis sindrom Down, namun tergolong mahal sehingga tidak semua lapisan masyarakat mampu menggunakannya. Tujuan penelitian ini adalah untuk mengetahui perbedaan rerata frekuensi kemunculan pola dermatoglifi serta untuk mengetahui tingkat sensitivitas dan spesifisitas uji diagnostik dermatoglifi terhadap penderita sindrom Down.

Metode: Metode yang digunakan pada penelitian ini adalah observasi analitik dengan studi potong lintang terhadap 28 anak yang mengalami sindrom Down didapat dari SLB C Negeri Tuna Grahita dan 28 anak normal dari SD Negeri 14 Dauh Puri. Analisis data menggunakan uji analisis T tidak berpasangan dan uji diagnostik dengan parameter sensitivitas dan spesifisitas menggunakan Reciever Operating Characteristic (ROC). Data dianalisis dengan SPSS versi 17 untuk Windows.

Hasil: Hasil penelitian menunjukkan bahwa rata-rata persentase tertinggi pola sidik jari pada penderita sindrom Down adalah loop ulnar dengan nilai mean 6,39, sedangkan pada anak normal adalah whorl dengan nilai mean 2,25. Dalam uji diagnostik, pola loop ulnar memiliki tingkat akurasi tertinggi dengan cut off=4 diikuti nilai sensitivitas 1 (0,87-1) dan spesifisitas 1 (0,87-1).

Kesimpulan: Terdapat perbedaan frekuensi kemunculan pola sidik jari pada anak dengan sindrom Down dan anak normal, serta pola loop ulnar memiliki tingkat akurasi sensitivitas dan spesifisitas tertinggi dalam uji diagnostik.

References

Kazemi M, Salehi M, Kheirollahi M. Down Syndrome: Current Status, Challenges and Future Perspectives. Int J Mol Cell Med. 2016;5(3):125-133.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-227.
Riset Kesehatan Dasar (RISKESDAS). Kesehatan Anak. Badan Penelitian dan Pengembangan Kesehatan Kementerian Kesehatan RI. Jakarta; 2013.
Montoya J, Soto J, Satizabal M, Sanches A, Garcia F. Genomic Study of The Critical Region of Chromosome 21 Associated to Down Syndrome. Colombia Medica. 2011;42(1):26-38.
Schnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I. Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22. Mol Cytogenet. 2018;11:62.
Seres-Santamaria A, Catala V, Cuatrecasas E, Villanueva R. Fluorescent in-situ hybridisation and Down's syndrome. Lancet. 1993;341(8859):1544.
Gekas J, van den Berg DG, Durand A, Valle M, Wildschut HIJ, Bujold E, Forest JC, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet. 2011;19(1):3-9.
Asen D. Secrets in fingerprints: clinical ambitions and uncertainty in dermatoglyphics. CMAJ. 2018;190(19):E597-E599.
Rajangam S, Janakiram S, Thomas IM. Dermatoglyphics in Down's syndrome. J Indian Med Assoc. 1995;93(1):10-13.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13(11):913-920.
Masni R, Megahati R, Wati M. Dermatoglifi Ujung Jari dan Telapak Tangan Penderita Hemofilia di Sumatra Barat. Jurnal Ilmiah STKIP. 2014;(3):6-11.
Irawan R, Rujito L, Ferine M, Hidayat Z. Perbedaan Pola Sidik Jari Anak-Anak Sindrom Down dan Anak-Anak Normal di Purwokerto. Sains Medika. 2010;2(2):106-115.
Sintaningtyas LJ. Pola Dermatoglifi Tangan pada Pasien Skizofrenia di Rumah Sakit Jiwa Daerah Surakarta. Fakultas Kedokteran Universitas Sebelas Maret [Skripsi]. Surakarta; 2010:1-54
Priest JH. Dermatoglyphic in Medical Disorders. Am J Hum Genet. 1977;29(4):410-411
Jamison CS, Jamison PL, Meier RJ. Effect of prenatal testosterone administration on palmar dermatoglyphic intercore ridge counts of rhesus monkeys (Macaca mulatta). Am J Phys Anthropol. 1994;94(3):409-419.
Leeflang MMG, Allerberger F. How to: evaluate a diagnostic test. Clin Microbiol Infect. 2019;25(1):54-59.
Weizman Z, Vardi O, Binsztok M. Dermatoglyphic (fingerprint) patterns in celiac disease. J Pediatr Gastroenterol Nutr. 1990;10(4):451-453.
Makhov A, Medvedev I. Physiological and morphological peculiarities of children with Downâ€™s syndrome: A brief review. Bali Medical Journal. 2020;9(1):51-54.

[1] Kazemi M, Salehi M, Kheirollahi M. Down Syndrome: Current Status, Challenges and Future Perspectives. Int J Mol Cell Med. 2016;5(3):125-133.

[2] Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-227.

[3] Riset Kesehatan Dasar (RISKESDAS). Kesehatan Anak. Badan Penelitian dan Pengembangan Kesehatan Kementerian Kesehatan RI. Jakarta; 2013.

[4] Montoya J, Soto J, Satizabal M, Sanches A, Garcia F. Genomic Study of The Critical Region of Chromosome 21 Associated to Down Syndrome. Colombia Medica. 2011;42(1):26-38.

[5] Schnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I. Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22. Mol Cytogenet. 2018;11:62.

[6] Seres-Santamaria A, Catala V, Cuatrecasas E, Villanueva R. Fluorescent in-situ hybridisation and Down's syndrome. Lancet. 1993;341(8859):1544.

[7] Gekas J, van den Berg DG, Durand A, Valle M, Wildschut HIJ, Bujold E, Forest JC, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet. 2011;19(1):3-9.

[8] Asen D. Secrets in fingerprints: clinical ambitions and uncertainty in dermatoglyphics. CMAJ. 2018;190(19):E597-E599.

[9] Rajangam S, Janakiram S, Thomas IM. Dermatoglyphics in Down's syndrome. J Indian Med Assoc. 1995;93(1):10-13.

[10] Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13(11):913-920.

[11] Masni R, Megahati R, Wati M. Dermatoglifi Ujung Jari dan Telapak Tangan Penderita Hemofilia di Sumatra Barat. Jurnal Ilmiah STKIP. 2014;(3):6-11.

[12] Irawan R, Rujito L, Ferine M, Hidayat Z. Perbedaan Pola Sidik Jari Anak-Anak Sindrom Down dan Anak-Anak Normal di Purwokerto. Sains Medika. 2010;2(2):106-115.

[13] Sintaningtyas LJ. Pola Dermatoglifi Tangan pada Pasien Skizofrenia di Rumah Sakit Jiwa Daerah Surakarta. Fakultas Kedokteran Universitas Sebelas Maret [Skripsi]. Surakarta; 2010:1-54

[14] Priest JH. Dermatoglyphic in Medical Disorders. Am J Hum Genet. 1977;29(4):410-411

[15] Jamison CS, Jamison PL, Meier RJ. Effect of prenatal testosterone administration on palmar dermatoglyphic intercore ridge counts of rhesus monkeys (Macaca mulatta). Am J Phys Anthropol. 1994;94(3):409-419.

[16] Leeflang MMG, Allerberger F. How to: evaluate a diagnostic test. Clin Microbiol Infect. 2019;25(1):54-59.

[17] Weizman Z, Vardi O, Binsztok M. Dermatoglyphic (fingerprint) patterns in celiac disease. J Pediatr Gastroenterol Nutr. 1990;10(4):451-453.

[18] Makhov A, Medvedev I. Physiological and morphological peculiarities of children with Downâ€™s syndrome: A brief review. Bali Medical Journal. 2020;9(1):51-54.

Pola sidik jari (Dermatoglifi) sebagai metode skrining diagnostik Sindrom Down pada anak

Abstract

References

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