METHODS: We analyzed all rectal and colonic biopsies (n=268) for suspected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004.
RESULTS: One hundred and two patients (87 males and 15 females) had histologically confirmed HD. Fifty-eight (57%) were neonates (<1 month of age), while 21% were more than 4 months old. The diagnosis was based on open biopsy in 11 cases and rectal biopsies in 91 cases. Nine patients with open biopsies presented as intestinal obstruction, necrotizing enterocolitis, or perforation. The extent of the disease was unknown in 13 patients. There were 67 males and 3 females with short segment HD. Nine had long segment, two ultra-short segment and eight total colonic aganglionosis (TCA). Five TCA cases involved the small intestine. A skip area was observed in two cases. Six patients had other anomalies. A positive family history for HD was established in three patients. Two of these were male siblings from a consanguineous marriage and had Waardenburg syndrome.
CONCLUSION: This study has highlighted an exceptionally strong male predominance of short segment and a relatively high frequency (5.6%) of small intestinal involvement in HD in Kuwait. These data call for a more detailed epidemiological study with special emphasis on genetics.
MATERIALS AND METHODS: Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded.
RESULTS: Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four.
CONCLUSION: SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.
METHODS: Seventeen healthy children (6 boys, 11 girls) aged from 5 to 9 years (mean = 6.8 ± 3.3 years) were tested in two sessions separated by a 3-month period. The stimulus used was a 40-ms syllable /da/ presented at 30 dB sensation level.
RESULTS: As revealed by pair t-test and intra-class correlation (ICC) analyses, peak latencies, peak amplitudes and composite onset measures of speech-ABR were found to be highly replicable. Compared to other parameters, higher ICC values were noted for peak latencies of speech-ABR.
CONCLUSION: The present study was the first to report the test-retest reliability of speech-ABR recorded at low stimulation levels in healthy children. Due to its good stability, it can be used as an objective indicator for assessing the effectiveness of auditory rehabilitation in hearing-impaired children in future studies.