Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.
ABSTRACT Williams-Beuren syndrome (WBS) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history and common medical problems associated with the condition. Some abnormalities are unique to WBS, such as the elastin arteriopathy that often manifests as supravalvar aortic stenosis and hypertension. Still other features, such as diverticulosis, are seen in the general population but tend to present earlier in WBS. Life long monitoring of the cardiovascular and endocrine systems is essential to the clinical management of individuals with Williams-Beuren syndrome. Constipation should be aggressively managed, and symptoms of abdominal pain should prompt an evaluation for diverticulosis/diverticulitis. While the mean IQ of WBS is in the mild mental retardation range, difficulties with attention and anxiety are more likely to negatively impact independent functioning in the adult with WBS. There is no evidence for decline in cognitive ability over time, but adaptive functioning may be improved with treatment of anxiety by both behavior and medical modalities.
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ABSTRACT: Visceral obesity is associated with facial characteristics and chronic disease, but no studies on the best predictor of visceral obesity based on facial characteristics have been reported. The aims of the present study were to investigate the association of visceral obesity with facial characteristics, to determine the best predictor of normal waist and visceral obesity among these characteristics, and to compare the predictive power of individual and combined characteristics.BMC Complementary and Alternative Medicine 07/2014; 14(1):248. · 1.88 Impact Factor
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ABSTRACT: Objective Williams–Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study. Materials and methods We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 ± 4.1 (range 3–19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan). Results Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects Conclusions Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population.Journal of pediatric urology 10/2014; · 1.38 Impact Factor
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ABSTRACT: Sleep and related maternal beliefs were assessed in a narrow age range of 18 children with Williams syndrome (WS) and 18 typically developing (TD) children. WS is a rare genetic disorder characterised by a complex physical, cognitive and behavioural phenotype. High prevalence of sleep difficulties in older children and adults with WS have been reported. Parents completed 6 questionnaires: the Brief Infant Sleep Questionnaire, Infant Sleep Vignettes Interpretation Scale, Pittsburgh Sleep Quality Index of Parents, Child Behaviour Checklist, MacArthur Communicative Development Inventory for Infants - Words and Gestures, and the Major (ICD-10) Depression Inventory. Compared to TD children, those with WS had shorter night sleep, more night wakings and wakefulness according to parental report. Regression analyses revealed that a proportion of the variance in language development scores in WS children could be explained by night sleep duration. Compared to control parents, the mothers of the WS group were more likely to describe their child's sleep as problematic and had higher rates of involvement with child sleep, yet they had a lesser tendency to interpret sleep problems as signs of distress and a greater tendency to emphasise limit setting. Approximately half of both groups of mothers experienced poor sleep quality. This was also related to maternal mood, and night wakefulness in the children with WS. This is the first study to quantify sleep difficulties in young children with WS in a narrow age range using maternal report. The possible negative effects on maternal sleep and mood, and the link between night sleep and language development in young children with WS, requires further detailed investigation.Research in developmental disabilities 09/2013; 34(11):3988-3996. · 4.41 Impact Factor