Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome

NCT05829668 | Recruiting

• 1 other identifier: IRB00223332
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The goals of this clinical trial are to identify factors associated with the development of problem behavior in Cornelia de Lange syndrome (CdLS) and to develop an effective behavioral assessment and treatment model for problem behavior in children with CdLS. The hypotheses are as follows:

1. 1.Based on pilot data, the investigators hypothesize that individuals with CdLS will exhibit preferences for auditory stimuli relative to other categories (e.g., visual, tactile) of stimuli.
2. 2.Based on pilot data, the investigators hypothesize that individuals with CdLS will exhibit problem behavior to obtain adult attention or to escape task demands relative to tangible and control conditions, as measured by functional analysis results.
3. 3.Function-based behavioral treatments will reduce problem behavior in individuals with CdLS by 80% or greater relative to baseline rates.
4. 4.Individuals with CdLS and problem behavior will exhibit more impaired communication, demonstrate increased emotion dysregulation, and exhibit more severe symptoms of Autism Spectrum Disorder (ASD) relative to those with CdLS and no problem behavior.

Conditions

Cornelia de Lange Syndrome

Keywords

behavioral assessment; behavioral treatment; problem behavior

Outcome Measures

Primary Outcomes (2)

• Change in Behavior Problems Inventory (BPI) scores

  The investigators will also quantify changes in problem behavior following the intervention relative to baseline with the normalized scores on the Behavior Problems Inventory (BPI). This scale has two sections: scores on Frequency of problem behavior (with a maximum score of 208 and a minimum score of zero) and scores on the Severity of problem behavior (with a maximum score of 156 and a minimum score of zero). Higher scores on these sections indicate worse outcomes, so decreases in the scores from pre-intervention to post-intervention would be indicative of a therapeutic outcome.

  pre-intervention (prior to admission) to post-intervention (at 2-week follow-up visit)

• Change in Aberrant Behavior Checklist (ABC) scores

  The investigators will also quantify changes in problem behavior following the intervention relative to baseline with the normalized scores on the Aberrant Behavior Checklist (ABC). The ABC has 5 subscales: Irritability, Social Withdrawal, Stereotypic Behavior, Hyperactivity/Noncompliance, and Inappropriate Speech. Scores on the Irritability subscale (maximum of 45 and a minimum of zero), in particular, would be indicative of problem behavior. Higher scores on this subscale indicate worse outcomes, so decreases in this scale scores from pre-intervention to post-intervention would be indicative of a therapeutic outcome.

  pre-intervention (prior to admission) to post-intervention (at 2-week follow-up visit)

Secondary Outcomes (1)

• direct observation of problem behavior reduction

  over the course of 2 days

Study Arms (2)

ABA-based functional analysis and treatment

EXPERIMENTAL

Assessment and Treatment for problem behavior exhibited by children with CdLS

Behavioral: ABA-based functional analysis and treatment

No Problem behavior Control Group

NO INTERVENTION

Quarterly Monitoring of children with CdLS that do not exhibit problem behavior

Interventions

ABA-based functional analysis and treatment BEHAVIORAL

Functional analysis to identify environmental variables maintaining child problem behavior and function-based treatment

ABA-based functional analysis and treatment

Eligibility Criteria

• Age: 3 Years - 15 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• Child with CdLS and problem behavior:
• clinical diagnosis of CdLS confirmed;
• age 3 to 15 years;
• is English-speaking;
• exhibits SIB, aggression, and/or disruptive behavior; and
• is able to participate in several hours of assessment/treatment.
• Parent of child with CdLS is English-speaking and is willing to:
• attend 2 full-day and one half-day clinic visits;
• complete and return study measures; and
• implement a behavior plan.
• Child with CdLS without problem behavior:
• clinical diagnosis of CdLS confirmed;
• is English-speaking
• age 3 to 15 years; and
• child's age and adaptive functioning level matches that of a child in the treatment group

You may not qualify if:

• Child with CdLS:
• does not exhibit SIB, aggression, or disruptive behavior;
• child is younger than 3 years or older than 15 years;
• is not English-speaking;
• has severe SIB that produces significant tissue damage or requires protective equipment;
• has uncontrolled seizures; or
• has medical conditions or requires time-intensive medical care that limits attendance or participation.
• Parent of child with CdLS is not English-speaking or is not willing to complete study procedures.
• Child with CdLS:
• exhibits SIB, aggression, or disruptive behavior;
• is younger than 3 years or older than 15 years;
• is not English-speaking;
• age and adaptive functioning level do not match that of a child in the treatment group.
• Parent of child with CdLS is not English-speaking or willing to complete study procedures.

Sponsors & Collaborators

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.: lead

Study Sites (1)

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

RECRUITING

Related Publications (22)

• Aman, M. G., & Singh, N. (2017). The aberrant behavior checklist. East Aurora, NY: Slosson Educational Publications.

  BACKGROUND

• Arron K, Oliver C, Hall S, Sloneem J, Forman D, McClintock K. Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome. Am J Ment Retard. 2006 May;111(3):184-92. doi: 10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2.

  PMID: 16597185 BACKGROUND

• Bay C, Mauk J, Radcliffe J, Kaplan P. Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. Am J Med Genet. 1993 Nov 15;47(7):965-8. doi: 10.1002/ajmg.1320470706.

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• Didden R, Korzilius H, van Oorsouw W, Sturmey P. Behavioral treatment of challenging behaviors in individuals with mild mental retardation: meta-analysis of single-subject research. Am J Ment Retard. 2006 Jul;111(4):290-8. doi: 10.1352/0895-8017(2006)111[290:BTOCBI]2.0.CO;2.

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• Gilliam, J. ( 2006). Gilliam Autism Rating Scale (2nd ed.). Austin, TX: Pro-Ed.

  BACKGROUND

• Heyvaert M, Maes B, Van den Noortgate W, Kuppens S, Onghena P. A multilevel meta-analysis of single-case and small-n research on interventions for reducing challenging behavior in persons with intellectual disabilities. Res Dev Disabil. 2012 Mar-Apr;33(2):766-80. doi: 10.1016/j.ridd.2011.10.010. Epub 2011 Nov 21.

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• Iwata BA, Dorsey MF, Slifer KJ, Bauman KE, Richman GS. Toward a functional analysis of self-injury. J Appl Behav Anal. 1994 Summer;27(2):197-209. doi: 10.1901/jaba.1994.27-197.

  PMID: 8063622 BACKGROUND

• Iwata BA, Pace GM, Kissel RC, Nau PA, Farber JM. The Self-Injury Trauma (SIT) Scale: a method for quantifying surface tissue damage caused by self-injurious behavior. J Appl Behav Anal. 1990 Spring;23(1):99-110. doi: 10.1901/jaba.1990.23-99.

  PMID: 2335488 BACKGROUND

• Kelley ME, Lerman DC, Van Camp CM. The effects of competing reinforcement schedules on the acquisition of functional communication. J Appl Behav Anal. 2002 Spring;35(1):59-63. doi: 10.1901/jaba.2002.35-59.

  PMID: 11936546 BACKGROUND

• Kurtz PF, Chin MD, Huete JM, Tarbox RS, O'Connor JT, Paclawskyj TR, Rush KS. Functional analysis and treatment of self-injurious behavior in young children a summary of 30 cases. J Appl Behav Anal. 2003 Summer;36(2):205-19. doi: 10.1901/jaba.2003.36-205.

  PMID: 12858985 BACKGROUND

• Lerman DC, Iwata BA, Shore BA, DeLeon IG. Effects of intermittent punishment on self-injurious behavior: an evaluation of schedule thinning. J Appl Behav Anal. 1997 Summer;30(2):187-201. doi: 10.1901/jaba.1997.30-187.

  PMID: 9210302 BACKGROUND

• Martens, B. K., Witt, J. C., Elliott, S. N., & Darveaux, D. X. (1985). Teacher judgments concerning the acceptability of school-based interventions. Professional psychology: Research and practice, 16(2), 191.

  BACKGROUND

• Mazefsky CA, Day TN, Siegel M, White SW, Yu L, Pilkonis PA; Autism and Developmental Disabilities Inpatient Research Collaborative (ADDIRC). Development of the Emotion Dysregulation Inventory: A PROMIS(R)ing Method for Creating Sensitive and Unbiased Questionnaires for Autism Spectrum Disorder. J Autism Dev Disord. 2018 Nov;48(11):3736-3746. doi: 10.1007/s10803-016-2907-1.

  PMID: 27699685 BACKGROUND

• Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty J. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. J Intellect Disabil Res. 2005 Apr;49(Pt 4):269-77. doi: 10.1111/j.1365-2788.2005.00649.x.

  PMID: 15816814 BACKGROUND

• O'Neill, R. E., Horner, R. H., Albin, R. W., Storey, K., & Sprague, J. R. (1990). Functional analysis of problem behavior: A practical assessment guide: Sycamore Publishing Company.

  BACKGROUND

• Phillips CL, Iannaccone JA, Rooker GW, Hagopian LP. Noncontingent reinforcement for the treatment of severe problem behavior: An analysis of 27 consecutive applications. J Appl Behav Anal. 2017 Apr;50(2):357-376. doi: 10.1002/jaba.376. Epub 2017 Feb 8.

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• Piazza CC, Fisher WW, Hanley GP, LeBlanc LA, Worsdell AS, Lindauer SE, Keeney KM. Treatment of pica through multiple analyses of its reinforcing functions. J Appl Behav Anal. 1998 Summer;31(2):165-89. doi: 10.1901/jaba.1998.31-165.

  PMID: 9652098 BACKGROUND

• Rojahn J, Matson JL, Lott D, Esbensen AJ, Smalls Y. The Behavior Problems Inventory: an instrument for the assessment of self-injury, stereotyped behavior, and aggression/destruction in individuals with developmental disabilities. J Autism Dev Disord. 2001 Dec;31(6):577-88. doi: 10.1023/a:1013299028321.

  PMID: 11814269 BACKGROUND

• Sparrow, SS, Cicchetti, DV, & Saulnier, C. A. (2016). Vineland adaptive behavior scales:Third edition (Vineland-3). Bloomington: NCS Pearson.

  BACKGROUND

MeSH Terms

Conditions

De Lange Syndrome; Problem Behavior

Interventions

Therapeutics

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Behavioral Symptoms; Behavior; Child Behavior

Study Officials

• Patricia F Kurtz, PhD

  Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Patricia F Kurtz, PhD

CONTACT

443-923-2894; kurtz@kennedykrieger.org

Michelle D Chin, MS, MPH

CONTACT

443-923-9467; chin@kennedykrieger.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: February 14, 2023
• First Posted: April 26, 2023
• Study Start: August 2, 2023
• Primary Completion (Estimated): August 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: October 29, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)