Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.

Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Parent Use of a Safety Checklist to Prevent Their Child's Pica.

Parents of three children with neurodevelopmental disorders and pica were taught to use a safety checklist to create pica-safe areas when transitioning to new locations. During baseline, no parent displayed pica-safe behavior, and their children attempted pica at moderate to high rates. After use of the checklist, parent pica-safe behavior increased, and instances of pica diminished to near zero. Results transferred to new contexts and additional substances associated with pica. Using the safety checklist appears to have aided parents in creating pica-safe environments to minimize pica. Supplementary Information: The online version contains supplementary material available at 10.1007/s40617-023-00798-w.

A Neurobehavioral Continuum of Care for Individuals with Intellectual and Developmental Disabilities with Severe Problem Behavior.

The Neurobehavioral Programs at Kennedy Krieger Institute constitute a comprehensive continuum of care designed to serve individuals with intellectual and developmental disabilities with co-occurring problem behavior. This continuum includes inpatient, intensive outpatient, outpatient, consultation, and follow-up services. The mission of these programs is to fully integrate patient care, research, training, and advocacy to achieve the best possible outcomes with patients, and to benefit the broader community of individuals with severe behavioral dysfunction. The primary treatment approach utilized across all programs is applied behavior analysis, however the inpatient unit also provides fully integrated interdisciplinary care. Factors driving the development and expansion of these programs are described, as are the processes and systems by which the mission objectives are achieved.

An intensive telehealth assessment and treatment model for an adult with developmental disabilities.

Over the last decade, the provision of applied behavior analysis (ABA) services within a telehealth delivery format has had a flourishing literature base. Research has demonstrated that caregivers can successfully conduct functional analyses and functional communication training to treat challenging behavior with coaching from practitioners via telehealth. Previous limitations include research that has only been conducted with children, typically in 1hr, weekly meetings, so the utility of providing ABA therapy via telehealth across the lifespan is unknown. Additionally, the effects of a more intensive treatment format delivered via telehealth has not been evaluated. The purpose of the current study was to coach caregivers to conduct the assessment and treatment process for a young man with developmental disabilities using an intensive-outpatient model in a telehealth format. Functional analysis procedures led to the development of a function-based treatment to reduce challenging behavior and increase functional communication. Caregivers demonstrated high procedural integrity across all phases of the study and found the intervention highly acceptable and effective. Areas for future research and directions are discussed.

An Evaluation of Operant Behavioural Economics in Functional Communication Training for Severe Problem Behaviour.

Objective: This single-case experiment examined the use of behavioural economic concepts in a function-based treatment for problem behaviour. Methods: Behavioural economic analyses were used to evaluate the strength of functions of problem behaviour and this information was used to inform elements of function-based treatment for one child with a neurodevelopmental disorder. Results: Findings from this experiment indicated that the incorporation of behavioural economic measures resulted in positive treatment effects that were maintained throughout all phases of the evaluation, including those implemented by caregivers. Conclusions: These results suggest that behavioural economic concepts and procedures can be successful adjuncts to evidence-based assessments and treatments for problem behaviour.

Parent-informed test-control functional analysis and treatment of problem behavior related to combined establishing operations.

PURPOSE: Analog functional analysis (FA) represents the gold standard practice in the functional assessment of problem behavior. In some cases, modifications to typical FA test conditions are required to isolate the environmental variables that evoke and maintain problem behavior. The purpose of the current study was to describe the development of an individualized FA test condition that included combined establishing operations (EOs). METHODS: After an inconclusive standard FA, an individualized FA was conducted based on semi-structured descriptive assessment data collected by parents in the home setting. RESULTS: The individualized test-control combined EO FA produced clearly differentiated results that informed a function-based treatment. CONCLUSIONS: Based on the results of the current study and other similar lines of contemporary research on FA methodology, strategies are discussed for gathering data to inform individualized FA test conditions and derived treatments.

Functional analysis and treatment of problem behavior exhibited by children with fragile X syndrome.

The efficacy of function-based interventions for the treatment of severe problem behavior exhibited by individuals with intellectual and developmental disabilities (IDD) is well established. However, few studies have reported on behavioral interventions in fragile X syndrome (FXS) specifically. The present study is a consecutive case-series analysis that reports on functional analysis and treatment of problem behavior of nine children with FXS. Assessment findings were consistent with previous research indicating that among individuals with FXS, problem behavior is more commonly maintained by escape from demands and access to tangible items, relative to the broader population of individuals with IDD. Functional analysis-based behavioral interventions resulted in a mean reduction in problem behavior of 95.2% across the nine participants. Additionally, generalization of treatment effects from controlled clinical settings to home, school, and community was demonstrated. The current findings suggest that function-based behavioral interventions shown to be effective with the broader population of individuals with IDD are also effective for individuals with FXS. Our results in combination with those of previous studies describing functional analysis outcomes provide additional evidence for a unique functional behavioral phenotype for severe problem behavior in individuals with FXS. Implications of study findings for early intervention and prevention of problem behavior in children with FXS are discussed.

Functional assessment of problem behaviors in adults with mental retardation.

Functional assessment has significantly improved the success of behavioral treatment of problem behaviors in adults with mental retardation. Functional assessment methods (i.e., techniques that yield a hypothesis of functional relationships) include direct observation, interviews, and checklists. Functional analysis consists of empirical methods that demonstrate behavioral function in controlled settings. Each method has advantages and limitations that reflect differences in both available resources and individual client characteristics. These methods and issues are reviewed, and future directions for both the research field and the adult population are suggested.

Functional analysis and treatment of self-injurious behavior in young children a summary of 30 cases.

The assessment and treatment of self-injurious behavior (SIB) has received much attention in the literature; however, few studies have focused on early intervention for this behavior. In the current study, functional analyses with developmentally appropriate modifications were conducted in an outpatient clinic with 30 children (aged 10 months to 4 years 11 months) to assess SIB and problem behavior in its early stages. The reported mean age of SIB onset was 17 months, and head banging was the most prevalent topography. Functional analyses identified sources of reinforcement for SIB in 62.1% of cases; with the inclusion of all forms of problem behavior, sources of reinforcement were identified for 87.5% of cases. Function-based treatments were developed for 24 cases, with functional communication training prescribed most often (70.8% of cases). Implications of these findings for the development of early intervention programs for SIB are discussed.