Evaluating of atlanto-axial instability and comparing with other clinical findings peculiar to syndrome at down syndrome individuals

SUMMARYEvaluating of atlanto-axial instability and comparing with other clinical findingspeculiar to syndrome at down syndrome individualsNilüfer Öğün MD, Dokuz Eylul University Faculty of Medicine, Department of Pediatrics,İzmirSubject: Evaluation of atlanto-axial instability and investigation of togetherness with othermore frequent clinical features at down syndrome individualsMethods: Study was designed retrospectivly in 50 patients choosed randomly from Downsyndrome patients attending Dokuz Eylul University, Department of Pediatrics ClinicalGenetics section. Patients? files were reviewed and demographic characteristics, physicalexamination findings, reports of department of eye and pediatrics cardiology consultationsand laboratory findings were recorded. Togetherness of presence of atlanto-axial jointinstability with cardiac defects, hypothyroidism and eye findings included in syndromecharacteristics was evaluated.Results: 50 Down syndrome patients, ages ranged between 6 months and 30 years, had beenincluded in the study. Median of age was 7,55±4,56 and %74 were 5 and older. %60 ofpatients had been taken diagnosis with phenotypic characteristics at neonatal period andothers had been taken at admission a doctor for infection, un-gaining weight and loose outhead kontrol. Diagnostic age was also determined about 4,82 months (SH:0.97). All patientswhom had been taken diagnosis of Down syndrome with phenotypic characteristics, had beendone analysis of chromosome and %90 complete trisomy 21 (n=45), %10 translocation typeDown syndrome had been detected. Advanced mother age was appionted at % 24 of patients(n=12). Most frequent physical examination finding in patients was craniofacial findings. Eyefindings in % 22 (n=11), cardiac defects in %44 (n=22), atlanto-axial instability in %8 (n=4)and hypothyriodism in % 20 (n=10) of patients were determined. At none of the patients withAAI, developmental cranio-vertabral bone anomaly had not been determined. Four patientswith AAI had more motor mental retardation according to other patients in study. None of the8patients with AAI had been required surgery. It was learnt that a patient with AAI who couldnot got the medikal intervention, had been exitus at home because of cardiak defects and lunginfection.Only one of the four patients who had AAI, had hypothyroidism and there was not astatistically significant relationship between hypothyroidism and AAI (p= 1,0).Most frequent cardiak defect was ASD at patients and VSD, ASD and insufficient of tricuspitvalve were determined at three of four patients with AAI, in cardiac evaluation. While % 75of AAI patients had cardiac findings, ratio of patients with cardiac semptoms who had notAAI was %41. However, difference between this two ratio was not statistically significant(p=0,30). At % 22 of patients; eye findings like conjunctivitis (n=3), refraction fault (n=3),glokom (n=1) and nystagmus (n=1) were been reported. While %75 of patients wtih AAI hadeye findings, %17,4 of patients had eye semptoms but not had AAI. The difference betweentwo state was statistically significant (p=0,029).Conclusion: While togetherness of atlanto-axial instability with eye findings were determinedsignificantly more frequent, there were no statisticly signifigant frequency withhypothyroidism and cardiac defects.Key Words: Down syndrome, atlanto-axial instability, cardiac defects, hypothyroidism,ocular findings9