Diagnosis and management of medical problems in adults with Williams-Beuren syndrome

Harvard University, Cambridge, Massachusetts, United States
American Journal of Medical Genetics Part C Seminars in Medical Genetics (Impact Factor: 3.91). 08/2007; 145C(3):280-90. DOI: 10.1002/ajmg.c.30139
Source: PubMed


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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    • "Consistent with Mason and colleagues (2011), we did not find any relationship between sleep and daytime behaviour (CBCL). This is perhaps surprising as children with WS typically have problems with sustained attention, and up to 65% are diagnosed with behavioural problems and attention-deficit hyperactivity disorder (ADHD) (Dykens, 2003; Einfeld, Tonge, & Florio, 1997; Leyfer, Woodruff-Borden, Klein-Tasman, Fricke, & Mervis, 2006; Pober & Morris, 2007). Sleep problems have also been found to be strongly related to behavioural problems such as ADHD in children (Cohen-Zion & Ancoli-Israel, 2004). "
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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. DOI:10.1016/j.ridd.2013.08.018 · 4.41 Impact Factor
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    • "However, there are no specific services for adults with developmental disabilities [Stille and Antonelli, 2004; Sullivan et al., 2011], and hospitalization in adult Internal Medicine, Surgery or Rehabilitation Units may be a considerable challenge because they are reluctant to accommodate patients with developmental disabilities [Royal College of Paediatrics and Child Health, 2003; Bedeschi et al., 2011]. A greater incidence of even severe psychiatric disorders, such as specific phobias, depression, and anxiety that worsen with increasing age, forms part of the characteristic WBS neurobehavioral profile [Howlin and Udwin, 2006; McGorry, 2007; Pober and Morris, 2007; Giarelli et al., 2008; Singh, 2009; Singh et al., 2010; Bedeschi et al., 2011; Sullivan et al., 2011]. "
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    ABSTRACT: There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 07/2013; 161(7). DOI:10.1002/ajmg.a.35982 · 2.16 Impact Factor
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    • "Because decreased elastic fibers in the abdominal wall as a consequence of aging are associated with inguinal hernias in the general population, we investigated the possibility that AAT deficiency might be associated with hernia occurrence in WS. Bowel and bladder diverticuli are common in WS, but usually present in adulthood, although at an earlier age than in the general population [Pober and Morris, 2007]. Because diverticuli usually are not detected until symptoms warrant invasive investigation, the prevalence in the WS population is unknown and therefore could not be evaluated in this study. "
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    ABSTRACT: Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We examined a cohort of 205 individuals with WS for mutations in SERPINA1, the gene that encodes alpha-1-antitrypsin (AAT), the inhibitor of elastase. Individuals with classic WS deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. However, carrier status for AAT deficiency was not correlated with presence of inguinal hernia or with presence or severity of SVAS. These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 05/2010; 154C(2):299-306. DOI:10.1002/ajmg.c.30265 · 3.91 Impact Factor
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