Article Text

  1. S H Spahiu1,
  2. M Zejnullahu1
  1. 1Department of Genetics, Pediatric Clinic, Prishtina, Kosovo


Introduction Down Syndrome is chromosomal disorder which is characterized by trisomy of 21 chromosome. Characterized with facial dismorfismus, congenital heart disease, gastrointestinale anomaly, different degree of mental retardation, problems with vision and with heard, the high tendency of infections etc. Authors have studied the anomaly in organs and systems in children with Down Syndrome hospitalized in Pediatrics Clinic or treated in genetics ambulance through the year 2006.

Aim To present the neurologic problems in children with Down Syndrome.

Methodology Study was retrospective and conducted upon data from patient’s card and from protocols books. Diagnosis was made from anamnesis, clinical examination, laboratory tests, caryotip, heart’s, abdomen’s and brain’s echosonography, EEG, X-ray examination, endoscopy. The patients were grouped according to sex, settlement, average birth weigh, type of congenital anomaly and type of neurologic problems.

Results In study involved 28 children, 17 of them were male, 57.1% of children were from cities. Only one case was translocative type and all the others were free trisomy of 21 chromosome. The average birth weight of these children was 2.9 kg. 12 (42.8%) of children had congenital heart disease, 5 children had gastrointestinal anomaly, anomaly of urogenitaly tract had 4 children. Four children or 14% have had neurologic problems, 2 of them had epilepsy, 1 was hydrocephalus and 1 child had meningocelae.

Conclusion Study has show the high frequency of neurologic problems in children with Down Syndrome so every doctor should think in this pathology.

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