Prevalence Estimation of Williams Syndrome

@article{Strmme2002PrevalenceEO,
  title={Prevalence Estimation of Williams Syndrome},
  author={P. Str{\o}mme and P. G. Bj{\o}mstad and K. Ramstad},
  journal={Journal of Child Neurology},
  year={2002},
  volume={17},
  pages={269 - 271}
}
There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on January 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation… Expand
Outcome in adult life for people with Williams syndrome-- results from a survey of 239 families.
  • P. Howlin, O. Udwin
  • Psychology, Medicine
  • Journal of intellectual disability research : JIDR
  • 2006
TLDR
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Factors Associated with Age of Diagnosis in Four Neurogenetic Syndromes
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The mean age of diagnosis was lowest in Prader–Willi syndrome, and this was significantly lower than Fragile X syndrome, Williams syndrome, 22q11.2 deletion syndrome and 22qdel, and the presence of medical factors was likely to lead to earlier diagnosis. Expand
Developmental psychopathology in children with Williams syndrome
Williams syndrome (WS) is a genetic disorder that results in a wide variety of impairments, involving most of the areas of development. Although significant variability has been found among childrenExpand
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
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A remarkable diagnostic delay in patients who present to genetic evaluation because of mental retardation and/or peculiar neuropsychological profile lacking an evident cardiopathy is underlines and confirms the multi-systemic nature of WS leading to a high clinical presentation's variability and complex follow-up strategies. Expand
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome
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For a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parent without an inversion. Expand
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Cardiovascular disease in Williams syndrome.
TLDR
Hemizygosity of the ELN gene coding for elastin has been demonstrated to be responsible for the vascular pathology in WS and the remaining 25 to 27 deleted genes contribute to the phenotypic findings in patients with WS and have recently been reviewed in detail elsewhere. Expand
Inversion Common Polymorphism of the Williams Found Syndrome More Region Frequently Is a in Parents of Children With Williams Syndrome
TLDR
It is calculated that for a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parents without an inversion. Expand
Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population
TLDR
The most consistent findings were dysmorphic features (100%), followed by dental anomalies and hyperacousis (90%), and the origin of deletions was more frequently maternal (59%), and a more severe phenotype seemed to be associated with those deletions. Expand
Williams–Beuren syndrome in diverse populations
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent withExpand
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References

SHOWING 1-10 OF 20 REFERENCES
Mental retardation in Norway: prevalence and sub‐classification in a cohort of 30 037 children born between 1980 and 1985
TLDR
The low prevalence of MR, particularly mild MR, could partly be explained by high SES, old standardization of IQ‐test, and low inbreeding coefficient, and the proportion of profound MR was considerably higher than estimated by DSM‐IV. Expand
Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.
TLDR
Despite extensive investigations, 4% of SMR and 32% of MMR were not identified with any biological markers and were considered as unspecified MR, several most probably representing the lower end of the normal IQ distribution in the population. Expand
Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder
TLDR
The clinical features of Williams beuren syndrome are addressed, with emphasis on early recognition, which may improve outcome, and recent progress in defining the molecular basis of Williams Beuren syndrome is discussed. Expand
Aetiology in severe and mild mental retardation: a population‐based study of Norwegian children
TLDR
Despite extensive investigations, 4% of SMR and 32% of MMR were not identified with any biological markers and were considered as unspecified MR, several most probably representing the lower end of the normal IQ distribution in the population. Expand
Williams syndrome: A clinical study of children and adults
TLDR
The majority of individuals in Western Australia with Williams syndrome presented initially because of developmental delay and in over half the cases the diagnosis was made by general paediatricians, and a wide range of complications may develop. Expand
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey
TLDR
A screening for the fragile X syndrome has been conducted in a representative sample of 3,352 individuals in schools and institutes for the mentally retarded in the southwestern Netherlands, by use of a brief physical examination and the DNA test. Expand
Natural history of Williams syndrome: physical characteristics.
TLDR
A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found, indicating Williams syndrome is a progressive disorder with multisystem involvement. Expand
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.
TLDR
The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. Expand
PRADER‐WILLI SYNDROME IN A SWEDISH RURAL COUNTY: EPIDEMIOLOGICAL ASPECTS
The total population under 25 years of age in one rural county in Sweden was screened in an attempt to find all cases of Prader‐Willi syndrome and to establish prevalence rates for the disorder. 11Expand
Rett syndrome: Swedish approach to analysis of prevalence and cause
TLDR
A plea is made for developmental screening of deteriorating hand skill as a tool for early identification of potential cases of the Rett syndrome and the neurobiological approach used in Gothenburg today to try to reveal the origin. Expand
...
1
2
...