md-medicaldata

Authors

 

Milan Obrenović¹, Boris Privrodski², Ivana Kavečan ^3,4, Radojica Savić^3,4, Jadranka Jovanović ^3,4, Milenko Kolarski <sup>5

1</sup>Kabinet za molekularnu genetiku, Institut za zdravstvenu zaštitu dece i omladine Vojvodine, Novi Sad
²Klinika za dečiju hirurgiju, Institut za zdravstvenu zaštitu dece i omladine Vojvodine, Novi Sad
³Medicinski fakultet, Univerzitet u Novom Sadu
⁴Odeljenje za medicinsku genetiku, Institut za zdravstvenu zaštitu dece i omladine Vojvodine, Novi Sad
⁵Kabinet za planiranje porodice, Institut za zdravstvenu zaštitu dece i omladine Vojvodine, Novi Sad

 

Rad je primljen 13.08.2017. / Prihvaćen 28.08.2017

 

Correspondence to

Doc. dr Ivana Kavečan,
Univerzitet u Novom Sadu, Medicinski fakultet,
University of Novi Sad, Faculty of Medicine
Institut za zdravstvenu zaštitu dece i omladine Vojvodine
Hajduk Veljkova 3
21000 Novi Sad, Srbija
tel. 021 4880444
mob. tel. +381 63 580 552;
fax: +381 21 4722960
e-mail: ivana.kavecan@mf.uns.ac.rs

 

 

Sažetak

 

Uvod: Osobe sa Daunovim sindromom (DS) pokazuju specifičan bihejvioralni fenotip. Cilj rada: Utvrđivanje individualnih razlika bihejvioralnog fenotipa osoba zahvaćenih DS. Materijal i metode: Retrospektivnom studijom obuhvaćeni su podaci Službe medicinske genetike u sedmogodišnjem periodu (2009-2016. godina). Analizirana je medicinska dokumentacija osoba sa DS koje su dijagnostikovane i kontrolišu se u Službi za medicinsku genetiku i kod kojih je sprovođen habilitacioni tretman i redovna testiranja kognitivnih sposobnosti. Rezultati: Rezultati su prikazani metodama deskriptivne statistike. Analiziran je psihomotorni razvoj 42 dece sa DS u uzrastu odojčeta, malog deteta i predškolskog deteta u više navrata. U uzrastu 3-6 meseci života prosečan kvocijent inteligencije (QI) bio je: 67. U uzrastu 6-12 meseci prosečan QI: 65. U uzrastu od 1-3 godine prosečan QI iznosio je: 58. U uzrastu 3-6 godina: 41. U ispitivanoj grupi utvrđeno je postojanje individualnih razlika osoba sa Daunovim sindromom u uzrastu 3 meseca, najniži kvocijent inteligencije iznosio je 32, a najviši 81. U uzrastu 6-12 meseci, najniži QI je iznosio 30, najviši 84, u uzrastu 1-3 godine najniži QI iznosio je 30, najviši 81, u uzrastu 3-6 godina, najniži QI manje od 20, najviši 58. Zaključak: Osobe sa Daunovim sindromom pokazuju individualne razlike u kvocijentu inteligencije i postignućima na planu koordinacije, motoričkih sposobnosti, razvoja govora i ispoljavanju društvenosti.

 

 

 

Ključne reči:

Daunov sindrom, bihejvioralni fenotip, mentalna nedovoljna razvijenost, razvojni obrazac, rane intervencije

 

 

Abstract

 

Introduction: People with Down syndrome show a specific behavioral phenotype. Objective: Determination of individual differences in behavioral phenotype among persons affected by Down's syndrome. Material and Methods: The retrospective study includes the data of the Medical Genetics Service in a seven-years period (2009-2016). The medical documentation of persons with Down syndrome who were diagnosed and controlled in the Department of Medical Genetics in which habilitation treatment and regular cognitive tests were performed were analyzed. Results: Results are presented by descriptive statistics. The psychomotor development of 42 children with DS in the age of infants, small children and preschool children were analyzed on several occasions. At the age of 3-6 months of life, the average QI was: 67. At the age of 6-12 months, the average QI was 65. At the age of 1-3, the average QI was 58. At the age of 3-6 years: 41. In the investigated group, the existence of individual differences in people with Down syndrome at the age of 3 months was determined; the lowest quotient of intelligence was 32, and the highest 81. At the age of 6-12 months, the lowest QI was 30, the highest 84, At the age of 1-3, the lowest QI was 30, the highest 81, at the age of 3-6 years, the lowest QI less than 20, the highest 58. Conclusion: People with Down syndrome show individual differences in the intelligence quotient and achievements on the plan of coordination, motor skills, speech development, and appearance of sociability.

 

 

Key words:

Down syndrome, behavioral phenotype, intellectual disability, developmental framework, early intervention

 

 

References

 

1. Daunhauer LA, Fidler DJ. The down syndrome behavioral phenotype: implications for practice and research in occupational therapy.Occup Ther Health Care 2011;25(1):7-25.
2. McDaniel J, Yoder PJ. Pursuing Precision Speech-Language Therapy Services for Children with Down Syndrome. Semin Speech Lang 2016;37(4):239-251.
3. Neil N, Jones EA. Communication intervention for individuals with Down syndrome: Systematic review and meta-analysis. Dev Neurorehabil 2016;18:1-12.
4. Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Massand E, Mok K, Startin C, Fisher E, Hardy J, Nizetic D, Tybulewicz V, Strydom A. The importance of understanding individual differences in Down syndrome. Faculty Rev Res 2016;23:5.
5. Agarwal Gupta N, Kabra M. Diagnosis and management of Down syndrome. Indian J Pediatr 2014;81(6):560-7.
6. Grieco J, Pulsifer M, Seligsohn K, Skotko B, Schwartz A. Down syndrome: Cognitive and behavioral functioning across the lifespan. Am J Med Genet C Semin Med Genet 2015;169(2):135-49.
7. Fernandez F, Reeves RH. Assessing cognitive improvement in people with Down syndrome: important considerations for drug-efficacy trials. Handb Exp Pharmacol 2015;228:335-80.
8. Frank K, Esbensen AJ. Fine motor and self-care milestones for individuals with Down syndrome using a Retrospective Chart Review. J Intellect Disabil Res 2015;59(8):719-29.
9. Nisbet LC, Phillips NN, Hoban TF, O'Brien LM. Characterization of a sleep architectural phenotype in children with Down syndrome. Sleep Breath 2015;19(3):1065-71.
10. Roberts LV, Richmond JL. Preschoolers with Down syndrome do not yet show the learning and memory impairments seen in adults with Down syndrome. Dev Sci 2015;18(3):404-19.
11. Will E, Fidler D, Daunhauer L. Impact of maladaptive behavior on school function in Down syndrome. Research in Developmental Disabilities 2016;(59):328–337.

UDK: 616.899.6
COBISS.SR-ID 245421836

PDF Obrenović M. et al • MD-Medical Data 2017;9(3): 161-165