Natural history of body mass index in Williams‐Beuren syndrome

Pankau, R.; Partsch, Carl-Joachim; Neblung, A.; Gosch, Angela; Wessel, Armin; Schaub, J.

doi:10.1002/ajmg.1320520110

Cited by 13 publications

(11 citation statements)

References 5 publications

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“…The deletion in this specific patient extended beyond D7S1870 to D7S489A polymorphic markers. Weight gain was observed in most cases after the age of 10, in contrast with the OFC and the height, which followed the anticipated growth parameters (23). It has been reported that the mean final height of girls and boys with WS is 153.9 Ϯ 6.9 cm and 168.2 Ϯ 6.9 cm, respectively (25).…”

Section: Discussionmentioning

confidence: 80%

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Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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Section: Discussionmentioning

confidence: 80%

“…Recurrent vomiting as a result of gastroesophageal reflux, colic, and diarrhea is also common (23). GH deficiency has not been considered a major cause of growth retardation in WS, and in the literature, only one patient with confirmed GH deficiency responded well to therapy (24).…”

Section: Discussionmentioning

confidence: 99%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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“…Age-related reference values for height, weight, and BMI were obtained from specific WBS charts [16][17][18] for WBS patients and from a wide sample of Italian children for healthy controls. 19 Height and BMI were normalised for chronological age by converting to SDS.…”

Section: Study and Laboratory Methodsmentioning

confidence: 99%

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Stagi¹,

Manoni²,

Scalini³

et al. 2016

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ObJECTIvE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-beuren syndrome (WbS). paTIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WbS were cross-sectionally evaluated and compared with two age-, sex-, and body-sizematched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. mEaSUREmENTS: We evaluated ionised and total calcium, phosphate, parathyroid hormone (pTh), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitudedependent speed of sound (aD-SoS) and the bone transmission time (bTT) z-scores. RESUlTS: WbS patients showed a significantly reduced aD-SoS z-score (p <0.001) and bTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WbS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher pTh levels (p <0.001) compared with the controls. Furthermore, WbS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls. CONClUSIONS: WbS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WbS patients.

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“…Weight was determined to the nearest 0.1 kg on a standard physician's beam scale, with the subject dressed only in light underwear and no shoes. Height, weight and pubertal stages were assessed according to international growth standards for WBS [16,17,18]. BMI was calculated and used as an indication of body fat mass.…”

Section: Methodsmentioning

confidence: 99%

Williams-Beuren Syndrome Is a Genetic Disorder Associated with Impaired Glucose Tolerance and Diabetes in Childhood and Adolescence: New Insights from a Longitudinal Study

et al. 2014

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Background: In adults with Williams-Beuren syndrome (WBS), a common endocrine abnormality is type 2 diabetes mellitus (T2DM) or impaired glucose tolerance (IGT). However, few and sporadic data are available in children, adolescents, and young adults with WBS. Aim: To evaluate the frequency of IGT and T2DM in a cohort of children and young patients with WBS. Patients and Methods: We longitudinally evaluated 27 patients (9 males and 18 females, median age at study onset 13.6 years) with WBS. The median follow-up was 3.6 years. Variables of insulin resistance and β-cell function were evaluated in all subjects using an oral glucose tolerance test. The homeostasis model assessment (HOMA) of insulin resistance and the Matsuda index of insulin sensitivity were calculated. The study of the GCK and HNF1Α genes was performed in patients with glucose metabolism abnormalities. 45 age- and sex-matched healthy subjects and 51 age-, sex- and BMI-matched subjects were recruited as two control groups. Results: Considering nutritional status, 7 (25.9%) patients were obese, 9 (33.3%) overweight, and 11 (40.8%) normal-weight. One (3.1%) patient had acanthosis nigricans. IGT was diagnosed in 7 (25.9%) WBS patients and T2DM in 3 (11.1%). Considering all WBS patients, the median value of HOMA was 5.23 (range 2.93-14.89; insulin 24.73 ± 14.67 μU/ml; glucose 104.98 ± 16.06 mg/dl). Considering BMI values, HOMA was 11.00 (range 6.53-12.56), 5.64 (range 3.54-7.95), and 4.54 (range 3.21-5.43), and insulin was 34.53 ± 6.84, 22.76 ± 8.91, and 19.47 ± 6.01 μU/ml in obese, overweight, and normal-weight WBS patients, respectively. Comparing the results with the two control groups, WBS patients showed higher insulin values than healthy controls (p < 0.001), but similar values as the BMI-matched control group (p = n.s.). However, WBS patients showed significantly higher values of glycemia (healthy control group, p < 0.001; BMI-matched control group, p < 0.05) and HOMA (healthy control group, p < 0.001; BMI-matched control group, p < 0.05) than the two control groups. Finally, among WBS patients there was a higher number of subjects with IGT and T2DM than among healthy controls (p < 0.0001) and the BMI-matched control group (p = 0.0002). Conclusion: Our data strongly suggest that IGT and T2DM may be frequently discovered in children, adolescents, and young adults with WBS. WBS should be included among the genetic syndromes associated with T2DM. Further studies are necessary to evaluate the etiopathogenesis of this aspect.

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Natural history of body mass index in Williams‐Beuren syndrome

Cited by 13 publications

References 5 publications

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Williams-Beuren Syndrome Is a Genetic Disorder Associated with Impaired Glucose Tolerance and Diabetes in Childhood and Adolescence: New Insights from a Longitudinal Study

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