Down Sendromlu Çocuklarda Tıbbi Komorbiditelerin Nörogelişimsel Özellikler Üzerine Etkisi

Amaç: Down Sendromu (DS), 21. kromozomun fazlalığı (trizomi 21) sonucu ortaya çıkan, yaklaşık 700 canlı doğumdan birinde görülen en yaygın genetik anomalilerden biridir. DS'lu çocuklarda bilişsel gelişim genellikle orta ila şiddetli gerilik aralığındadır ve zihinsel yaş nadiren sekiz yaşın üzerindedir. Bu çalışmanın amacı, 1-6 yaş arası DS'lu çocukların nörogelişimsel özelliklerini ve eşlik eden tıbbi patolojiler ile ilişkisini araştırmaktır. Gereç ve Yöntem: Çocuk ve ergen ruh sağlığı polikliniğine başvuran toplam 83 DS'lu çocuk çalışmaya dahil edilerek sosyodemografik ve tıbbi öykü ile nörogelişimsel özellikler arasındaki ilişkiler incelenmiştir. Gelişimlerini değerlendirmek için Denver II Gelişimsel Tarama Testi kullanıldı. Dört alan değerlendirildi: kaba motor gelişim, ince motor gelişim, dil-bilişsel gelişim ve kişisel-sosyal gelişim. Bulgular: DS'li çocuklarda tıbbi ek hastalık oranları %75.9'du (38'inde kalp sorunu, 17'sinde tiroid disfonksiyonu ve 8'inde epilepsi vardı). Denver II Gelişimsel Tarama Testi puanları açısından cinsiyetler arasında istatistiksel olarak anlamlı fark yoktu. Hipotiroidili çocuklar, tüm alanlarda önemli ölçüde daha düşük Denver II Gelişimsel Tarama Testi puanlarına sahiptir. Diğer tıbbi komorbiditelerin Denver II Gelişimsel Tarama Testi puanları üzerinde anlamlı bir etkisi olmamıştır. Sonuç: DS'lu çocuklarda eşlik eden tıbbi hastalıklar çocuğun gelişimini etkileyebilir. Bu nedenle, bu durumların erken teşhisi ve tedavisi önemlidir. Hipotiroidinin çocukların gelişimine olumsuz etkileri nedeniyle bu çocukların tedavi ve yakın takibinde dikkatli olunmalıdır.

Anahtar Kelimeler:

Down Sendromu, nörogelişim, tıbbi komorbidite

The Effects of Medical Comorbidities on Neurodevelopmental Features in Children with Down Syndrome

Background: Down Syndrome (DS) is one of the most common genetic anomalies observed in approximately one out of 700 live births, which occurs as a result of an excess of chromosome 21 (trisomy 21). Cognitive development in DS children is generally in the range of moderate to severe retardation, and mental age is rarely above eight years. The aim of this study is to investigate the neurodevelopmental characteristics of children with DS between the ages of 1-6 and their relationship with comorbid medical pathologies. Materials and Methods: A total of 83 DS children who applied to the child and adolescent mental health outpatient unit, were included in the study, and the relationships between sociodemographic and medical histories and neurodevelopmental characteristics were analyzed. Denver II Developmental Screening Test was used to evaluate their development. Four areas were evaluated: gross motor development, fine motor development, language-cognitive development and personal-social development. Results: The rates of medical comorbidities in children with DS was 75.9% (38 had heart problems, 17 had thyroid dysfunction, and 8 had epilepsy). There was no statistically significant difference between genders in terms of Denver II Developmental Screening Test scores. Children with hypothyroidism have significantly lower Denver II Developmental Screening Test scores in all domains. Other medical comorbidities did not have a significant effect on Denver II Developmental Screening Test scores. Conclusions: Concomitant medical diseases in children with DS may affect the development of the child. Therefore, early diagnosis and treatment of these conditions is essential. Due to the negative effects of hypothyroidism on the development of children, care should be taken in the treatment and close follow-up of these children.

Keywords:

Down Syndrome, neurodevelopment, medical comorbidity,

PDF

___

1. Greber-Platzer S, Schatzmann-Turhani D, Wollenek G, Lubec G: Evidence against the current hypothesis of gene dosage effects of Trisomy 21: ets-2, encoded on chromosome 21 is not overexpressed in hearts of patients with Down syndrome. Biochem. Biophys. Res. Commun 254, 395–399, 1999.
2. Antonarakis SE, Lyle R, Chrast R, Scott HS: Differential gene expression studies to explore the molecular pathophysiology of Down syndrome. Brain Res. Rev. 36, 265–274, 2001.
3. Roizen NJ, Patterson D. Down’s syndrome. Lancet. 2003;361(9365):1281–1289.
4. Ferreira-Vasques AT, Lamônica DA. Motor, linguistic, personal and social aspects of children with Down syndrome. J Appl Oral Sci. 2015;23(4):424-430.
5. Vicari S. Motor development and neuropsychological patterns in persons with Down syndrome. Behav Genet. 2006;36(3):355‐364.
6. Vicari S, Bates E, Caselli MC, Pasqualetti P, Gagliardi C, Tonucci F, et al. Neuropsychological profile of Italians with Williams syndrome: an example of a dissociation between language and cognition?. J Int Neuropsychol Soc. 2004;10(6):862-876.
7. Vicari S, Marotta L, Carlesimo GA. Verbal short-term memory in Down's syndrome: an articulatory loop deficit?. J Intellect Disabil Res. 2004;48(Pt 2):80-92.
8. Pennington BF, Moon J, Edgin J, Stedron J, Nadel L. The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Dev. 2003;74(1):75-93.
9. Palisano RJ, Walter SD, Russell DJ, Rosenbaum PL, Gémus M, Galuppi BE, et al. Gross motor function of children with down syndrome: creation of motor growth curves. Arch Phys Med Rehabil. 2001;82(4):494-500.
10. Iverson JM, Longobardi E, Caselli MC. Relationship between gestures and words in children with Down's syndrome and typically developing children in the early stages of communicative development. Int J Lang Commun Disord. 2003;38(2):179-197.
11. Papagno C, Vallar G. Understanding metaphors and idioms: a single-case neuropsychological study in a person with Down syndrome. J Int Neuropsychol Soc. 2001;7(4):516-527.
12. Roizen NJ, Wolters C, Nicol T, Blondis TA. Hearing loss in children with Down syndrome. J Pediatr. 1993;123(1):S9-S12.
13. Jarrold C, Baddeley AD, Phillips C. Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test. Cortex. 2007;43(2):233-247.
14. Chapman RS, Seung HK, Schwartz SE, Bird EK. Predicting language production in children and adolescents with Down syndrome: the role of comprehension. J Speech Lang Hear Res. 2000;43(2):340-350.
15. Vicari S, Caselli MC, Tonucci F. Early language development in Italian children with Down syndrome: asynchrony of lexical and morphosyntactic abilities. Neuropsychology. 2000a; 38:634–644.
16. Kava PM, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arc Med Res 2004; 35:31-5.
17. Reller MD, Morris CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart disease? J Pediatr 1998; 132: 738-41.
18. Shaw CK, Thapalial A, Nanda S, Shaw P. Thyroid dysfunction in Down syndrome. Kathmandu Univ Med J (KUMJ) 2006;4:182-6.
19. Eratay E, Bayoglu B, Anlar B. Preschool Developmental Screening with Denver II Test in Semi-Urban Areas. Online Submission, 2015 1(2).
20. Kim MA, Lee YS, Yee NH, Choi JS, Choi JY, Seo K. Prevalence of congenital heart defects associated with Down syndrome in Korea. J Korean Med Sci. 2014;29(11):1544-1549.
21. Kim HI, Kim SW, Kim J, Jeon HR, Jung DW. Motor and Cognitive Developmental Profiles in Children With Down Syndrome. Ann Rehabil Med. 2017;41(1):97-103.
22. Pierce MJ, LaFranchi SH, Pinter JD. Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome . Horm Res Paediatr. 2017;87(3):170-178.
23. Robertson J, Hatton C, Emerson E, Baines S. Prevalence of epilepsy among people with intellectual disabilities: A systematic review. Seizure. 2015;29:46-62.
24. Kovaleva NV. Sex ratio in Down syndrome. TSitologiia i genetika. 2002; 36.6 2002: 54-69.
25. Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. J Med Screen. 2002;9(1):2–6.
26. O'Nualláin S, Flanagan O, Raffat I, Avalos G, Dineen B. The prevalence of Down syndrome in County Galway. Ir Med J. 2007;100(1):329-331.