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Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome

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Abstract

Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children (5–17 years) with CdLS were assessed with Children’s Yale-Brown Obsessive Compulsive Scale Modified for PDD; Aberrant Behavior Checklist (ABC); Vineland Adaptive Behaviors Scales (VABS). All children had ≥ 1 type of RB; 44% had some form of SIB. 64% spent > 1 h/day displaying RBs. Lower VABS adaptive functioning was associated with higher stereotypy and SIB scores (ABC). In children with CdLS, RBs including SIB are common, impactful, and associated with lower adaptive functioning.

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Acknowledgments

Dr. Wilkinson gratefully acknowledges support from the Agency for Healthcare Research and Quality (5K12HS023000).

Author information

Authors and Affiliations

  1. Department of Neurology, Boston Children’s Hospital, Boston, MA, USA

    Siddharth Srivastava

  2. Department of Medicine, University of Minnesota, Minneapolis, MN, USA

    Bennett Clark

  3. Myriad Women’s Health, Salt Lake City, UT, USA

    Colleen Landy-Schmitt

  4. Kennedy Krieger Institute, Baltimore, MD, USA

    Elizabeth A. Offermann

  5. Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA

    Antonie D. Kline

  6. Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA

    Samuel T. Wilkinson

  7. Department of Psychiatry, The Johns Hopkins Hospital, Bloomberg Children’s Center, Johns Hopkins University School of Medicine, 12th Floor, 1800 Orleans Street, Baltimore, MD, 21287, USA

    Marco A. Grados

Authors
  1. Siddharth Srivastava
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  2. Bennett Clark
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  6. Samuel T. Wilkinson
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Contributions

SS, MG, ADK made substantial contributions to the conception or design of the work; BC, CL-S, EO and SW contributed to the acquisition, analysis, and interpretation of data for the work. All authors contributed to drafting the work or revising it critically for important intellectual content as well as approved the final version.

Corresponding author

Correspondence to Marco A. Grados.

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Conflict of interest

Dr. Wilkinson has received contract funding administered through Yale University from Janssen and Sage Therapeutics for the conduct of clinical trials; he anticipates receiving contract funding from Oui Therapeutics and LivaNova. He has received consulting fees from Janssen, Oui Therapeutics, and Biohaven. Dr. Srivastava has received consulting fees from Guidepoint. The other authors have no other conflict of interest to disclose.

Ethical Approval

This was research with human participants, and all participants provided informed consent. Research was approved by the IRB at Johns Hopkins University School of Medicine. We appreciate the help from families and staff of the CdLS Foundation.

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Srivastava, S., Clark, B., Landy-Schmitt, C. et al. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord 51, 1748–1758 (2021). https://doi.org/10.1007/s10803-020-04617-x

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