title: Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome.
abstract: BACKGROUND
  One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy.
  
  
  METHODS
  Participants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status.
  
  
  RESULTS
  All children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy.
  
  
  CONCLUSIONS
  The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders.
authors.affiliation: Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience, University of California Los Angeles, Los Angeles, CA USA.
authors.forename: Charlotte
authors.initials: C
authors.lastname: DiStefano
authors.affiliation: Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience, University of California Los Angeles, Los Angeles, CA USA.
authors.forename: Amanda
authors.initials: A
authors.lastname: Gulsrud
authors.affiliation: Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience, University of California Los Angeles, Los Angeles, CA USA.
authors.forename: Scott
authors.initials: S
authors.lastname: Huberty
authors.affiliation: Department of Human Development and Psychology, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience, University of California, Los Angeles, CA USA.
authors.forename: Connie
authors.initials: C
authors.lastname: Kasari
authors.affiliation: Department of Psychiatry, University of Illinois at Chicago, Chicago, IL USA.
authors.forename: Edwin
authors.initials: E
authors.lastname: Cook
authors.affiliation: Department of Neurology, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN USA.
authors.forename: Lawrence T
authors.initials: LT
authors.lastname: Reiter
authors.affiliation: Department of Neurology, Department of Pediatrics, Massachusetts General Hospital, Boston, MA USA.
authors.forename: Ronald
authors.initials: R
authors.lastname: Thibert
authors.affiliation: Department of Neurology, Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience, University of California Los Angeles, Los Angeles, CA USA.
authors.forename: Shafali Spurling
authors.initials: SS
authors.lastname: Jeste
keywords: Adaptive functioning; Autism spectrum disorder; Duplication 15q syndrome; Intellectual disability; Social communication