SHANK Gene Family and Autism

Author(s):  
Craig M. Powell

SHANK3 deletion/mutation is an independently replicated, genetic cause of autism (Durand et al., 2007; Gauthier et al., 2009; Moessner et al., 2007) and is the major causative gene in the 22q13 deletion syndrome known as Phelan-McDermid syndrome (Bonaglia et al., 2011; Bonaglia et al., 2001; Bonaglia et al., 2006; Chen et al., 2011; Delahaye et al., 2009; Dhar et al., 2010; Jeffries et al., 2005; Misceo et al., 2011; Sarasua et al., 2011; Wilson et al., 2003). Patients with Phelan-McDermid syndrome uniformly have delayed or absent speech and many carry the diagnosis of autism spectrum disorder (Cusmano-Ozog, Manning, & Hoyme, 2007; Havens, Visootsak, Phelan, & Graham, 2004). More recently, mutations in SHANK2 have been implicated in autism and intellectual disability (Berkel et al., 2010; Pinto et al., 2010). These recent human genetic findings provide a compelling rationale for developing a comprehensive understanding of SHANK3 function in synapses, circuits, and behavior, resulting in three different novel genetic mouse models published by more than four independent laboratories (Bangash et al., 2011; Bozdagi et al., 2010; Peca et al., 2011; Wang et al., 2011). Such studies shed light on the underlying biology of autism caused by SHANK3 mutations. This chapter examines in detail the evidence supporting a role for SHANK genes in autism and intellectual disability as well as insights from the recent genetic animal models of SHANK3 mutations.

Author(s):  
Sylvie Couderc ◽  
Florence Cousson‐Gélie ◽  
Eric Pernon ◽  
Bertrand Porro ◽  
Stéphanie Miot ◽  
...  

2016 ◽  
Vol 121 (6) ◽  
pp. 501-519 ◽  
Author(s):  
Aubrey Hui Shyuan Ng ◽  
Kim Schulze ◽  
Eric Rudrud ◽  
Justin B. Leaf

Abstract This study implemented a modified teaching interaction procedure to teach social skills to 4 children diagnosed with autism spectrum disorder with an intellectual disability. A multiple baseline design across social skills and replicated across participants was utilized to evaluate the effects of the modified teaching interaction procedure. The results demonstrated that the teaching interaction procedure resulted in all participants acquiring targeted social skills, maintaining the targeted social skills, and generalizing the targeted social skills.


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