Coeliac disease in Williams syndrome.

BACKGROUND: Coeliac disease (CD) has been reported in several patients affected by chromosomal disorders, including Down syndrome (DS) and Turner syndrome (TS). CD has also been found in sporadic Williams syndrome (WS) patients. In this study, CD was evaluated in a consecutive series of patients with WS, in order to estimate if the prevalence of CD in WS patients is higher than in the general population. METHODS AND RESULTS: A consecutive series of 63 Italian patients with WS was studied by analysing the dosage of antigliadin antibodies (AGA) IgA and antiendomisium antibodies (AEA). In patients with positive AGA and AEA, small bowel biopsy was performed. The prevalence of CD in our WS population was compared with that estimated in a published series of 17 201 Italian students. Seven WS patients were found to be positive for AGA IgA and AEA. Six of them underwent small bowel biopsy, which invariably disclosed villous atrophy consistent with CD. The prevalence of CD in the present series of WS patients was 9.5% (6/63), compared to 0.54% (1/184) in the Italian students (p<0.001). CONCLUSION: The present results suggest that the prevalence of CD in WS is higher than in the general population and is comparable to that reported in DS and TS. AGA and AEA screening is recommended in patients with WS.

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome.

The aim of the study was to assess workload capacity and blood pressure (BP) response to treadmill exercise and 24-hour BP monitoring in children with Williams syndrome. Seventeen children were examined (8 males and 9 females) whose mean age was 13.8 +/- 3.6 years. Six patients were on antihypertensive therapy. Each patient underwent clinical examination and measurement of BP at rest, during exercise, and during 24-hour monitoring. Two-dimensional echocardiogram and echo-Doppler of renal arteries were performed. The test was stopped for muscular fatigue or reduced cooperation. The patients, when compared to a population of healthy children, had reduced total time of exercise (7.3 +/- 1.9 vs 14.3 +/- 2.6 min, p < 0.001) and, at the same workload, increased heart rate (167 +/- 19 vs 145 +/- 16 beats/min, p < 0.001) and increased maximum systolic BP (146 +/- 27 vs 128 +/- 12 mmHg, p = 0.01). Ambulatory blood pressure measurement values showed higher systolic blood pressure both during daytime and nighttime. Our study confirms that children and adolescents with Williams syndrome are at high risk for hypertension, probably related to the alterations of large arteries. The data relating to the synthesis of elastin may have a direct relationship to the compliance of the arterial system, leading to hypertension.

[Lactitol in chronic idiopathic constipation in children]. / Il lattitolo nella stipsi cronica idiopatica del bambino.

Fifty-one children affected by chronic idiopathic constipation (23 males, 28 females), ranging in age from 8 months to 16 years were enrolled in the study; 42 completed the trial. The patients were divided into two groups: Group A: 19 children treated with lactitol (250-400 mg/kg/day); Group B:23 patients treated with lactulose (500-750 mg/kg/day). Parents filled a questionnaire concerning clinical response to therapy for a period of 30 days. In 17 Group A children and in 17 Group B children orocecal transit time using H2 Breath Test with lactulose was performed. A statistically significant increase of week stool frequency was found after treatment both with lactitol or lactulose (p < 0.001). Nevertheless Group B patients complained abdominal pain (p < 0.005) and flatus (p < 0.001) more frequently. Other adverse reactions, such as vomiting and meteorism, were more frequent in Group B patients (n.s.). In addition patients treated with lactitol found that sugar as more palatable and had a better compliance to the therapy. Orocecal transit time did not show statistically significant differences after the therapy with both these sugars, indicating that the activity of lactulose and lactitol occurs in the colon and that small bowel functions are not affected by a previous therapy with these sugars. In conclusion, our study demonstrate that lactitol, because of the less number of side effects compared to lactulose, should be considered as an useful agent in the treatment of chronic idiopathic constipation in childhood.