Williams Beuren Syndrome
Williams-Beuren Syndrome: Controversies in the Complex Behavioral and Cognitive Profile of a Unique Genetic Disorder
Zachary Blaker
November 12, 2015
(3,982 words)
Introduction
Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder typically characterized by distinctive facial features, cognitive delays accompanied by comparatively strong language and verbal skills, deficits in visuospatial construction, and hyper-social personality traits (Martens et al. 2008). The cognitive aspects of this disorder have been largely controversial, partially due to the difficulty of choosing an appropriate comparison group. Many early studies used other disorders with mental disabilities such as Down Syndrome …show more content…
Individuals with WBS present a wide variety of symptoms. Most obvious are their outward physical characteristics, which typically include a wide, open mouth with thick lips, a delicate and pointed chin, fullness around the eyes, retroussé nose, misaligned teeth, and full cheeks below the cheekbones (Figure 1) (Winter et al. 1996). These features have been termed “elfin facies”, and are generally most distinct between the ages of one and five. They tend to be so clear that individuals with WBS may appear more closely related to one another than to direct family members. However, with age these features tend to stiffen and skin appears to age at an increased rate (Tassabehji et al. 1997). These facial features and premature aging of the skin are generally attributed to the deletion of the elastin gene, located on chromosome 7 and known to be deleted in more than 90% of individuals with WBS (Nickerson et al. …show more content…
Individuals with WBS often present with a variety of medical complications. Most prevalent among them are cardiovascular abnormalities, which are observed in upwards of 80% of cases and are the most frequent cause of death among patients. Of these, supravulvar aortic stenosis (SVAS) is most frequent, occurring at a frequency of about 45% (Collins et al. 2010). As with the distinctive facial features present in WBS, this disease has been linked to deletions in the elastin gene (Ewart et al. 1994). Sexual differences in the prevalence and severity of cardiovascular abnormalities in WBS remain controversial. A study of 127 patients with WBS found that males presented with cardiovascular abnormalities at a higher frequency and with a higher severity than females (Sadler et al. 2001). More recently, a study of 270 cases of WBS evaluated at the Children’s Hospital of Philadelphia found no significant difference in severity or distribution between genders (Collins et al. 2010). Notably, in the study by Sadler and colleagues, males presented earlier than females. This may explain the observed gender bias as cardiovascular abnormalities that present earlier tend to be more
Zachary Blaker
November 12, 2015
(3,982 words)
Introduction
Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder typically characterized by distinctive facial features, cognitive delays accompanied by comparatively strong language and verbal skills, deficits in visuospatial construction, and hyper-social personality traits (Martens et al. 2008). The cognitive aspects of this disorder have been largely controversial, partially due to the difficulty of choosing an appropriate comparison group. Many early studies used other disorders with mental disabilities such as Down Syndrome …show more content…
Individuals with WBS present a wide variety of symptoms. Most obvious are their outward physical characteristics, which typically include a wide, open mouth with thick lips, a delicate and pointed chin, fullness around the eyes, retroussé nose, misaligned teeth, and full cheeks below the cheekbones (Figure 1) (Winter et al. 1996). These features have been termed “elfin facies”, and are generally most distinct between the ages of one and five. They tend to be so clear that individuals with WBS may appear more closely related to one another than to direct family members. However, with age these features tend to stiffen and skin appears to age at an increased rate (Tassabehji et al. 1997). These facial features and premature aging of the skin are generally attributed to the deletion of the elastin gene, located on chromosome 7 and known to be deleted in more than 90% of individuals with WBS (Nickerson et al. …show more content…
Individuals with WBS often present with a variety of medical complications. Most prevalent among them are cardiovascular abnormalities, which are observed in upwards of 80% of cases and are the most frequent cause of death among patients. Of these, supravulvar aortic stenosis (SVAS) is most frequent, occurring at a frequency of about 45% (Collins et al. 2010). As with the distinctive facial features present in WBS, this disease has been linked to deletions in the elastin gene (Ewart et al. 1994). Sexual differences in the prevalence and severity of cardiovascular abnormalities in WBS remain controversial. A study of 127 patients with WBS found that males presented with cardiovascular abnormalities at a higher frequency and with a higher severity than females (Sadler et al. 2001). More recently, a study of 270 cases of WBS evaluated at the Children’s Hospital of Philadelphia found no significant difference in severity or distribution between genders (Collins et al. 2010). Notably, in the study by Sadler and colleagues, males presented earlier than females. This may explain the observed gender bias as cardiovascular abnormalities that present earlier tend to be more