title: Parental-reported pain insensitivity in Dup15q.
abstract: Parents of children with chromosome 15q duplication syndrome (Dup15q) have anecdotally reported high pain threshold as a feature of the disorder. The purpose of this study was to document parental-reported estimates of the frequency of high pain tolerance and the stimuli that fail to evoke a normal pain response. We sent an online survey to 840 families with children with Dup15q to explore the frequency and clinical manifestations of high pain threshold. There were 216 respondents (25.7%). A high pain threshold was reported in 87% of children at some time. There was a trend (p=0.06) for high pain threshold to be more commonly observed among children with the isodicentric (85.6%) and other genetic variants (95%) than interstitial (69.6%) duplications. There was no association between reports of high pain threshold and reports of an intellectual disability (91% of cases), autism spectrum disorder (83% of cases), or self-injurious behavior (40% of cases). Reports included many dramatic cases such as severe burns, broken bones, and electrical traumas, which were associated with little or no evidence of a painful stimulus. A high pain threshold is reported in other disorders associated with intellectual disability and autism; the underlying mechanism in Dup15q and other disorders remains undefined.
authors.affiliation: Dup15q Alliance, P.O. Box 674, Fayetteville, NY 13066, USA.
authors.forename: Kadi
authors.initials: K
authors.lastname: Luchsinger
authors.affiliation: New York University (NYU) School of Medicine, Department of Neurology, 550 First Avenue, New York, NY 10016, USA.
authors.forename: Heather
authors.initials: H
authors.lastname: Lau
authors.affiliation: New York University (NYU) School of Medicine, Department of Neurology, 550 First Avenue, New York, NY 10016, USA.
authors.forename: Julie L
authors.initials: JL
authors.lastname: Hedlund
authors.affiliation: New York University (NYU) School of Medicine, Department of Neurology, 550 First Avenue, New York, NY 10016, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Friedman
authors.affiliation: New York University (NYU) School of Medicine, Department of Neurology, 550 First Avenue, New York, NY 10016, USA.
authors.forename: Kara
authors.initials: K
authors.lastname: Krushel
authors.affiliation: New York University (NYU) School of Medicine, Department of Neurology, 550 First Avenue, New York, NY 10016, USA. Electronic address: od4@nyu.edu.
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
mesh_terms: D000293:Adolescent; D000328:Adult; D000067877:Autism Spectrum Disorder / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000503:physiopathology; D008297:Male; D010146:Pain / Q000503:physiopathology*; D017288:Pain Threshold / Q000502:physiology*; D010290:Parents; D016728:Self-Injurious Behavior / Q000150:complications / Q000503:physiopathology; D014314:Trisomy / Q000503:physiopathology*; D055815:Young Adult
keywords: Autism spectrum disorders; Dup15q; Pain tolerance