The behavioural phenotype of Angelman syndrome

Abstract

Background. The purpose of this review is to examine the notion of a behavioural

Experimental functional analysis of aggression in children with Angelman syndrome

“…Between 5-10% of people who show the clinical features of Angelman syndrome have no demonstrable cytogenetic or molecular abnormality of chromosome 15q11-13 (Clayton-Smith & Laan, 2003;Laan, Halley, den Boer, Hennekam, Renier & Brouwer, 1998;Lossie, Whitney, Amidon, Dong, Chen, Theriaque, Hutson, Nicholls, Zori, Williams & Driscoll, 2001). The syndrome is associated with specific physical characteristics, developmental delay and distinctive cognitive and behavioral phenotypes (Williams, Beaudet, Clayton-Smith, Knoll, Kyllerman, Laan, Magenis, Moncla, Schinzel, Summers & Wagstaff, 2006;Horsler & Oliver, 2006a;Moss, Oliver, Arron, Burbidge & Berg, 2009). One of the most salient behavioral features of Angelman syndrome is the presence of pro-social behaviors, such as excessive laughing and smiling, noted in a detailed review of 64 studies documenting 842 cases in the literature (Horsler and Oliver, 2006a).…”

“…The syndrome is associated with specific physical characteristics, developmental delay and distinctive cognitive and behavioral phenotypes (Williams, Beaudet, Clayton-Smith, Knoll, Kyllerman, Laan, Magenis, Moncla, Schinzel, Summers & Wagstaff, 2006;Horsler & Oliver, 2006a;Moss, Oliver, Arron, Burbidge & Berg, 2009). One of the most salient behavioral features of Angelman syndrome is the presence of pro-social behaviors, such as excessive laughing and smiling, noted in a detailed review of 64 studies documenting 842 cases in the literature (Horsler and Oliver, 2006a). Haig and Wharton (2003) developed kinship theory (or maternal investment theory) as an explanation for the phenomenon of genomic imprinting.…”

“…Horsler & Oliver (2006a) also found that 15% of the 64 studies they reviewed made reference to aggressive behaviors, and Arron, Oliver, Hall, Sloneem, Forman & McClintock (2006) showed that aggression, but not self-injury, is significantly more common in Angelman syndrome than a contrast group. However, the causes of aggressive behavior in children with Angelman syndrome have yet to be studied empirically.…”

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

“…The behavioral phenotype is reviewed extensively by Horsler and Oliver (2006a). Of note are the presence of severe to profound intellectual disability, raised levels of laughing, smiling and happy demeanour, excessive sociability, little or no speech, hyperactivity and aggression in 6-10% (Summers, Allison, Lynch, & Sandler, 1995).…”

Behavior and neuropsychiatric manifestations in Angelman syndrome

“…In contrast, interactions between genes, and between genetic and environmental factors are expected to be major. Moreover, further methodological improvements are required to better characterize the behavioral features that accompany the syndrome (Horsler and Oliver 2006b). …”