Targeted Behavioral Intervention for Children with Dup15q Syndrome Focuses on Language and Joint Attention

Background: Duplication of 15q11.2-q13.1, or Dup15q Syndrome, is one of the most common copy number variations (CNV’s) associated with autism spectrum disorders (ASD).  The Dup15q phenotype is characterized by social communication deficits, intellectual disability, impaired speech, hypotonia, motor delays, and epilepsy (Battaglia, Parrini & Tancredi, 2010).  Many children with Dup15q syndrome are minimally verbal.  To date, there has been no research on targeted behavioral interventions for this population.  An ideal intervention for the specific deficits found in Dup15q syndrome is JASPER (Joint Attention, Symbolic Play, Engagement and Regulation).  JASPER is a play-based intervention focused on joint engagement in play routines with the therapists as a platform for developing play and communication skills (Kasari et al., 2006).  JASPER has been used successfully to increase communication in minimally verbal children with ASD (Kasari et al., 2008; 2014). 

Objectives: To evaluate the feasibility and effectiveness of JASPER in a pilot sample of children with Dup15q syndrome.

Methods: Three children participated in this pilot study (2 female).  Two participants were non-verbal (ages 3:2 and 5) and the third used phrases (age 7:11 years). Assessments included the Autism Diagnostic Observation Schedule 2 (ADOS-2), the Early Social Communication Scales (ESCS) to measure joint attention and requesting, the Mullen Scales of Early Learning/Stanford-Binet Intelligence Scales, and the Vineland Adaptive Behavior Scales.  Participants received between 10 and 16 JASPER intervention sessions. Sessions were 30 minutes in length and occurred twice per week. The first and last sessions were coded for the time the child spent engaged in joint activities.

Results: All three participants met diagnostic criteria for ASD, based on ADOS-2 scores, and all scored in the very impaired range on cognitive assessments.  The ESCS was administered to the two non-verbal participants.  Both participants demonstrated low rates of joint attention skills.  Notably, both participants showed more responses to joint attention during the book task, compared to pictures on the wall, likely secondary to the fact that shifting gaze to the book required less motor control and visual attention. All participants showed large increases in the amount of time spent engaged from first to last session (Participant 1: 22% engagement in reciprocal activities to 45% engagement in reciprocal activities; Participant 2: 21% to 50%; Participant 3: 33% to 100%).

Conclusions: This is the first intervention study in Dup15q syndrome. JASPER is not only feasible but beneficial for children with 15q11.2-13.1 duplications, as it targets the core deficits that characterize the syndrome. Specifically, children demonstrated inflated ADOS scores, indicative of autism characteristics, intellectual disability, low rates of joint attention skills and impaired language.  Given these characteristics, an intervention that focuses on supporting joint attention and language through an engaging, developmentally appropriate play interaction is warranted.  Initial results indicate that the JASPER sessions were successful in terms of increasing the amount of time that participants were able to engage in reciprocal activities.  These data support the need for larger scale research to evaluate the effects of a targeted behavioral intervention in children with Dup15q syndrome.