Cognitive Domain of Executive Functioning

A Study of the Cognitive Domain of

Executive Functioning in Individuals with Cystinosis

 

Amy M. Spilkin, Ph.D., Principal Investigator

Angela O. Ballantyne, Ph.D. Co-Investigator

Doris A. Trauner, M.D. Co- Investigator

 

Twelve-Month Progress Report – Cystinosis Research Foundation

1/1/06 – 7/31/06

 

  1. SPECIFIC AIMS

The specific aims for this project are:

 

1)     This study will provide the first set of comprehensive neuropsychological data on executive functioning in individuals with cystinosis, from childhood through adulthood, using a cutting edge assessment system (Delis-Kaplan Executive Function System).  The importance of executive functioning cannot be underestimated because it is vital to the adaptive behavior and “real world success” of the individual, whether it be at home, school, or in the workplace.

2)     This study will also provide meaningful questionnaire data from individuals, teachers, parents and/or caretakers on the daily functioning of individuals with cystinosis.  It is essential for parents and teachers to have the opportunity to describe the child’s real world problems in executive functioning.  This real world data will complement the neuropsychological testing data to provide meaningful clinical correlates to the test data, which in turn, will lead to a greater understanding of the implications of the executive functioning deficits.

3)     This study has tremendous implications for everyday functioning and quality of life for individuals with cystinosis and their families.  It is only by understanding an individual’s abilities to initiate, plan, organize, and solve problems that we can begin to implement intervention strategies that will optimize the functioning of the individual.

  

  1. PROGRESS TO DATE (1/1/06 – 7/31/06)

Over the past 6 months of the study we successfully recruited, inducted, and tested 4 individuals with cystinosis and 14 control participants.  Currently, we have complete data on a total of 18 individuals with cystinosis and 16 matched control participants.  Hence, we have made substantial progress toward the goals of this study.

 

  1. RESULTS

On all 34 participants to date, we have collected D-KEFS, Wechsler IQs, and the age-appropriate executive functioning questionnaires (BRIEF or FrSBe).  We have also scored, reliability checked, and data entered all of the test and questionnaire data collected so far.  Since we are in the first year of this research study, we have not yet analyzed any of the data.

 

  1. FUTURE PLANS

In the next 6-month period, we plan to continue to recruit, induct, and test individuals with cystinosis and matched control participants, as we work towards the total projected participants (i.e., 30 with cystinosis, 30 controls).  By the end of the next 6 months, we hope to have enough data to begin preliminary analyses, with the possibility of preparing a presentation for a scientific conference.