We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical features and genetic findings were used in cytogenetic screenings to estimate the prevalence of the fragile X (fra X) and other chromosomal aberrations in 120 patients with mental retardation, language disorders, attention deficit hyperactivity, or developmental delay, in comparison with 30 healthy children. Data on the clinical, intellectual and behavioral findings in 14 fra X positive children (11.7%) is presented. Ten of the 120 patients (8.3%) had enlargement of the heterochromatin region of chromosome 9. Other chromosomal aberrations and autosomal fragile sites (FS) were also observed. There was a statistically significant difference in the autosomal and X-linked FS between the study and control groups (p < 0.05). The tests for the fra X chromosome are likely to be of diagnostic benefit in young children with autism or developmental delay, particularly in speech, and who have large and prominent ears.
Case-Control Studies ; Child ; Child, Preschool ; *Cytogenetic Analysis ; Female ; Fragile X Syndrome/*genetics ; Human ; Infant ; Male ; Mental Retardation/*genetics ; Support, Non-U.S. Gov't ; Turkey

OBJECTIVES: The purpose is to investigate effect of septoplasty and widened nasal patency on voice quality. METHODS: Fifty patients who undergone septoplasty were included in the study. Thirty-three people who had similar age and distribution were enrolled as control group. Before and 1 and 3 months after surgery, anterior rhinomanometry, voice analysis by Multi-Dimensional Voice Program, and spectrographic analysis were performed to patients. The recordings of /a/ vowel were used to evaluate average fundamental frequency (F0), jitter percent, and shimmer percent. In spectrographic analyses, F3–F4 values for the vowels /i, e, a, o, and u/, nasal formant frequencies of the consonants /m/ and /n/ in the word /mini/, and 4 formant frequencies (F1, F2, F3, and F4) for nasalized /i/ vowel following a nasal consonant /n/ in the word /mini/ were compared. The differences in nasal resonance were evaluated. All patients were asked whether change in their voices after the surgery. Preoperative and postoperative voice parameters and anterior rhinomanometry results were compared separately with the control group as well as in the patient group itself. RESULTS: Preoperative total nasal resistance (TNR) values of patients were higher than the control group (P=0.001). TNR values of patients measured one day before surgery and after surgery in the 1st and 3rd months were different and these differences were significant statistically (P=0.001). There was no significant difference between the voice analysis parameters in preoperative, postoperative 1st, and 3rd months. As a result of their subjective reviews, 12 patients (36%) noted their voices were better than before surgery and 20 patients (61%) noted no change before and after surgery. CONCLUSION: Providing widened nasal cavity has no effect on voice quality.
Humans ; Nasal Cavity ; Nasal Septum ; Rhinomanometry ; Voice Quality* ; Voice*