Williams Syndrome

Morris, Colleen A.; Mervis, Carolyn Β.

doi:10.1002/9781119432692.ch63

Cited by 3 publications

(7 citation statements)

References 122 publications

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“…WS is characterized by distinctive facial features (elfin‐face), cardiovascular anomalies, mainly supravalvular aortic stenosis (SVAS), growth delay, mental retardation with typical neurobehavioral profile and occasional infantile hypercalcemia 6,7 …”

Section: Introductionmentioning

confidence: 99%

“…Global developmental delay is evident in infants with WS and common neurologic signs are hypotonia, strabismus and tongue thrust 15 . Cognitive ability ranges widely among the individuals 7,16 . The most predominant characteristics include weakness in visual‐spatial integration, delay in language acquisition, attention deficit hyperactivity disorder (ADHD) and anxiety 16 …”

Section: Introductionmentioning

confidence: 99%

“…Nevertheless, due to the variability of the syndrome, its clinical diagnosis is often difficult, especially during the first months of life. Fluorescence in situ hybridization (FISH) remains the most widely used method to confirm the clinical diagnosis 7 . However, for genotype‐phenotype correlation and the prediction of disease progression based on the number of missing genes, qPCR and MLPA assay are considered more appropriate 18,19 …”

Section: Introductionmentioning

confidence: 99%

“…5 WS is characterized by distinctive facial features (elfinface), cardiovascular anomalies, mainly supravalvular aortic stenosis (SVAS), growth delay, mental retardation with typical neurobehavioral profile and occasional infantile hypercalcemia. 6,7 Alterations to both the soft tissues of the face and the underlying skull are responsible for the WS facial gestalt. 6 Cardiovascular disease in WS individuals ranges from the absence of signs and symptoms to sudden death in childhood.…”

Section: Introductionmentioning

confidence: 99%

“…15 Cognitive ability ranges widely among the individuals. 7,16 The most predominant characteristics include weakness in visual-spatial integration, delay in language acquisition, attention deficit hyperactivity disorder (ADHD) and anxiety. 16 The diagnosis of the syndrome is mainly based on the recognition of the typical facial features, as well as on the frequent presence of SVAS.…”

Section: Introductionmentioning

confidence: 99%

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Oral manifestations of nine individuals with Williams syndrome. A case series

Vavetsi

Panagopoulou²,

Koromantzos

et al. 2023

Special Care in Dentistry

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AimsWilliams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been sufficiently described and, therefore, the aim of the current study was to present the clinical, radiographic and microbiological findings of individuals with WS.Methods and resultsA series of nine WS individuals (seven females) with mean age 21 years‐old were evaluated. A complete intraoral clinical examination, a radiographic analysis using panoramic and cephalometric x‐ray and a supra‐ and sub‐gingival microbiological profiling were performed. We observed abnormal tooth morphology, excessive interdental spacing, congenitally missing permanent teeth and malocclusion. High levels of DMFT were observed and gingivitis was present in all subjects. Bacteria related to periodontal disease were detected in dental plaque. Three patients were classified with a gingival phenotype type I according to the Maynard and Wilson classification. The sella turcica bridging was a novel finding for this group of patients.ConclusionDue to the elevated prevalence of gingivitis, caries and malocclusion, a multidisciplinary approach including dental follow‐ups should be the standard of care in WS patients.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Oral manifestations of nine individuals with Williams syndrome. A case series

Vavetsi

Panagopoulou²,

Koromantzos

et al. 2023

Special Care in Dentistry

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Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills

BAYSAL,

ARSLAN,

BÜYÜKAVCI

et al. 2023

Turkish Journal of Medical Sciences

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Background/aim Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients. Materials and methods The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II). Results A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 ± 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 ± 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems. Conclusion This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.

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Ebeveynlerin Bakış Açısıyla Williams Sendromlu Çocuklar

Cansu,

Sarıçam

2024

Turkish Special Education Journal: International

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Williams Sendromu (WS) 7500 ile 20.000 canlı doğumda bir görülen nörogelişimsel bozukluklar arasındadır. Nadir rastlanıldığı için ebeveynleri doğumdan hemen sonra fark edememektedir. Ancak ilerleyen zamanlarda belirli sağlık sorunları ile doktora başvurmaktadırlar. Sağlık taramaları sonucunda WS teşhisi almaktadırlar. Bu çalışmanın temel amacı Williams Sendromlu çocukların özelliklerini ebeveynlerinin bakış açısıyla incelemektir. Bu araştırmada nitel araştırma yöntemi benimsenmiş olup, betimleyici durum deseni ile yürütülmüştür. Bu çalışma için yarı yapılandırılmış görüşme formu oluşturularak, WS’li çocuğa sahip 10 tane ebeveyn ile görüşmeler yapılmıştır. Görüşmeler deşifre edilmiş, temalar ve alt temalar oluşturulmuş ve içerik analizi gerçekleştirilmiştir. İçerik analizi sonucunda sağlık sorunları, hobi-fobiler, kültürel faaliyetler, öğrenme özellikleri, beslenme ve fiziki özellikler adlı altı tema oluşturulmuştur. Sağlık sorunlarında, en çok kalp rahatsızlığı görülmüştür. Hobi olarak müzikten hoşlandıkları ancak fobi olarak yüksek sesten korktukları tespit edilmiştir. Kültürel faaliyetlerde ise müzik etkinliklerine (mini konserler gibi) katıldıklarından bahsedilmiştir. Öğrenme özellikleri arasında sık sık hatırlatmanın gerekli olduğu vurgulanmıştır. Beslenme de hamur ürünlerini sevdikleri görülmüştür. Fiziki özelliklerinde ise zayıf olmaları göze çarpmıştır. Sonuç olarak WS’li çocuklar ile eğitim öğretim faaliyetleri sürdürürken hem öğretmenler hem de aileler WS’li çocukların geliştirilebilirliği, öğretilebilirliği, eğitilebilirliği konusunda umudu yüksek düzeyde olması gerektiği söylenebilir. Ayrıca bu çalışmayla WS’li çocuğa sahip ebeveynler, öğretmenleri ve arkadaşlarına WS’li çocukları daha yakından tanıma olanağı sunulmuştur. Öneriler kısmında ise çalışma bulgularına dayalı olarak gelecek araştırmacılara yeni çalışmalar için öneriler sunulmuştur.

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Williams Syndrome

Cited by 3 publications

References 122 publications

Oral manifestations of nine individuals with Williams syndrome. A case series

Oral manifestations of nine individuals with Williams syndrome. A case series

Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills

Ebeveynlerin Bakış Açısıyla Williams Sendromlu Çocuklar

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