Williams syndrome: a multidisciplinary approach to care.

@article{Waxler2009WilliamsSA,
  title={Williams syndrome: a multidisciplinary approach to care.},
  author={Jessica L. Waxler and Karen S. Levine and Barbara R Pober},
  journal={Pediatric annals},
  year={2009},
  volume={38 8},
  pages={
          456-63
        }
}
Williams syndrome (WS) is a highly distinct genetic syndrome with a unique constellation of medical and developmental problems and an associated characteristic personality profi le. It is a disorder that should be well-known to most pediatricians, in generalities if not in specifi cs. Although the management of certain problems may be best provided by a single specialist, other common challenges are best approached through a multidisciplinary lens for both diagnostic evaluation and treatment… 
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Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
1622 CONGENITAL GENITOURINARY ABNORMALITIES IN CHILDREN WITH WILLIAMS-BEUREN SYNDROME
Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome.
Lacrimal drainage system anomalies in Williams-Beuren syndrome
  • M. Ali
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The present case describes multiple lacrimal drainage anomalies in a child with Williams-Beuren syndrome, a rare multi-system disorder that predominantly involves the connective tissues, cardiovascular and nervous systems.
Medical, Cognitive, and Psychiatric Characteristics in a Large Israeli Cohort of Individuals with Williams Syndrome.
TLDR
The findings regarding the type and prevalence of medical, cognitive, and psychiatric characteristics in WS correspond to results in previous publications and showed a potential link between phonophobia and ADHD that merits further research.
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Williams syndrome is a rare genetic neurodevelopmental disorder, and the present study aimed to gain insights into the life experiences of affected children and the support available to them. This…
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
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Results demonstrate specific benefits from the clinic experience, the importance of a knowledgeable clinic coordinator, and support the need for similar clinics across the country.
Longitudinal Improvement of Lower Urinary Tract Symptoms in WILLIAMS-BEUREN Syndrome.
TLDR
This long-term study showed significant improvement of LUTS in children and adolescents with WBS over time, with 35.5% patients considered symptomatic after five years and 10 years, respectively observed.
Caregiver survey of pharmacotherapy to treat attention deficit/hyperactivity disorder in individuals with Williams syndrome.
Approach to Stone Formation in the Pediatric Population
  • M. Baum
  • Medicine
    Clinical Reviews in Bone and Mineral Metabolism
  • 2011
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The etiologies of pediatric urolithiasis, the metabolic evaluation, and treatment options are discussed and early identification of inborn errors of metabolism is important to prevent morbidities associated with these disorders, such as end-stage renal disease.
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References

SHOWING 1-10 OF 37 REFERENCES
Contractures in patients with Williams syndrome.
TLDR
Joint contractures developed in early childhood and usually did not improve or worsen with time, and their occurrence did not correlate with vascular disease.
Natural history of Williams syndrome: physical characteristics.
Williams syndrome: pediatric, neurologic, and cognitive development.
Coeliac disease in Williams syndrome
TLDR
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.
Multisystem study of 20 older adults with Williams syndrome
TLDR
The preliminary findings raise concern about the occurrence of mild accelerated aging, which may additionally complicate the long‐term natural history of older adults with WS.
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
TLDR
Potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations are described, and several new directions for the development of nonsurgical preventative therapies based on insights fromElastin biology are proposed.
Severe colonic diverticulitis in an adolescent with Williams syndrome
TLDR
An adolescent boy with Williams Syndrome who developed complicated colonic diverticulitis is reported and the possible aetiology of diverticular disease is briefly reviewed.
Spectrum of cardiovascular anomalies in Williams-Beuren syndrome
TLDR
In conclusion, supravalvular aortic stenosis was the most common lesion, whereas pulmonary artery stenosis improved in most patients, whereas the role of coronary artery abnormalities has yet to be defined.
Cardiovascular manifestations in 75 patients with Williams syndrome
TLDR
The data indicate the following in WS: heart disease diagnosed in infancy frequently requires operation, PAS tends to improve and SVAS to progress, and life long cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension.
Association of Chiari I malformation and Williams syndrome.
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