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The Impact of Rosa's Law on Describing Persons With THE IMPACT OF ROSA’S LAW ON DESCRIBING PERSONS WITH INTELLECTUAL DISABILITY By ANDREA LUTTER Thesis Advisor: Anne Matthews, RN, PhD Committee Members: Suzanne D. DeBrosse, MD Duane Culler, MS, PhD, CGC, LISW Submitted in partial fulfillment of the requirements for the degree of Master of Science Department of Genetics and Genome Sciences CASE WESTERN RESERVE UNIVERSITY May 2014 CASE WESTERN RESERVE UNIVERISITY SCHOOL OF GRADUATE STUDIES We hereby approve the thesis/dissertation of Andrea Lutter Candidate for the degree of Master of Science*. Committee Chair Anne Matthew, RN, PhD Committee Member Suzanne D. DeBrosse, MD Committee Member Duane Culler, MS, PhD, CGC, LSW Date of Defense April 18, 2014 • We also certify that written approval has been obtained for any proprietary material contained therein. 2 TABLE OF CONTENTS ABSTRACT………………………………………………………………………………7 CHAPTER 1: Introduction……………………………………………….……………. 8 CHAPTER 2: Purpose, Aims, and Hypothesis………………………………..……...10 CHAPTER 3: Background Mental Retardation/Intellectual Disability…………………………………... 11 Previous Studies …………………………………………………………….… 14 Rosa’s Law …………………………………………………………………….. 17 Significance to Genetic Counseling ………………………………………….. 18 CHAPTER 4: Study Design and Methods Participants ……………………………………………………………………. 20 Questionnaire Design …………………………………………………………. 21 Data Analyses …………………………………………………………………. 24 CHAPTER 5: Results Response Rate …………………………………………………………………. 26 Demographics …………………………………………………………………. 27 Interactions Between Parents and Genetic Counselors …………………….. 30 Use of Terminology …………………………………………………………… 30 Preferred Terminology ……………………………………………………….. 34 Terminology Used Based on Given Scenario ……………………………….. 43 Intellectual Disability vs. Mental Retardation ……………………………… 48 Policies and Rosa’s Law ……………………………………………………… 50 CHAPTER 6: Discussion 3 Discussion ……………………………………………………………………. 53 Limitations ……………………………………………...…………………… 59 Future Directions ………………………………………………………...….. 60 CHAPTER 7: Conclusions ………………………………..………………………….. 61 APPENDIX 1: IRB Approvals from University Hospitals Case Medical Center…. 63 APPENDIX 2: E-blast to Genetic Counselors …………………..…………………... 65 APPENDIX 3: E-mail message to Genetic Alliance Members ……….……………. 66 APPENDIX 4: Parent Invitation to Participate …………………..………………… 67 APPENDIX 5: Genetic Counselor Survey …………………………..………………. 68 APPENDIX 6: Parent Survey ……………………………………………..…………. 74 APPENDIX 7: Genetic Counselor Open-ended Responses ……………….……….. 79 APPENDIX 8: Parent Open-ended Responses ……………………………………. 135 APPENDIX 9: Definitions of Terms Used in Surveys ……………………………. 147 REFERENCES: …………………………………………………………………….. 151 4 TABLES TABLE 1: Demographics of Genetic Counselors…...………….…………………… 27 TABLE 2: Demographic Characteristics of Parents…...………..………………...... 29 TABLE 3: Use of Terminology comparison between genetic counselors and parents…………….……………………………………………………….. 31 TABLE 4: Other terms used by Genetic Counselors and Parents……….………… 33 TABLE 5: Parent and genetic counselors comparison of preferred term and disliked term………………………………………………………………. 35 TABLE 6: Themes determined from choosing one preferred term of genetic counselors and parents…………....………...…………………………..... 36 TABLE 7: Themes determined from disliked term explanation of genetic counselors and parents…………..…….…………………………………. 38 TABLE 8: Common themes as to why genetic counselors use different terms in four given scenarios……………………………………………………….. 45 TABLE 9: Common themes as to why parents use different terms in given scenarios………………………………………………………………….... 47 TABLE 10: Themes identified in genetic counselor responses as to why intellectual disability requires further explanation when used………… 49 5 FIGURES FIGURE 1: The order of rank indicating preference for each of eight terms for both parents and genetic counselors……………………………………………………………… 40 6 The Impact of Rosa’s Law on Describing Persons with Intellectual Disability Abstract by ANDREA LUTTER Terminology used to describe individuals with Intellectual Disability (ID) is confusing as numerous terms are used to describe this diagnosis. This study explored if Rosa’s law, which states that “intellectual disability” should replace “mental retardation” in federal documentation, impacted terminology preferred by members of the National Society of Genetic Counselors (n=310) and parents of individuals with ID from the Genetic Alliance (n=88). Responding to on-line surveys, most genetic counselors (66.3%) preferred ID whereas parents (40.3%) preferred developmental delay (p<0.001). Genetic counselors chose ID as their most preferred term, but only 30% reported awareness of Rosa’s law. Interestingly, of the 31 parents who reported awareness of Rosa’s law, only 13% preferred ID. No correlation between awareness of Rosa’s law and preferred terminology was found. While there was no consensus as to which term best described individuals with ID, identifying a unifying term may be beneficial in preventing confusion and clarifying diagnoses. 7 CHAPTER 1: Introduction Finding the appropriate terminology to use to describe persons with mental retardation or intellectual disability has been a challenge not only for medical professionals, but society in general. The difficulty for most healthcare providers is utilizing a term that accurately describes a person’s intellectual capacities without being offensive to the person or family members. In an attempt to address this issue, Rosa’s Law, which states: “An act to change references in Federal law to mental retardation to references to an intellectual disability, and change references to a mentally retarded individual to references to an individual with an intellectual disability.” (U.S. Government Printing Office, 2010). was signed by President Obama on October 5, 2010 (U.S. Government Printing Office, 2010). It was enacted in response to the efforts of a parent of a child with Down syndrome who felt the term “mental retardation” was demeaning and lobbied to have the term replaced with “intellectual disability” to describe an individual’s thinking ability (Special Olympics, 2010). However, there are few studies that explore whether the law has impacted genetics providers or families. The purpose of this study was to examine how Rosa’s Law has impacted parents’ and genetic counselors’ use of terminology when describing persons with intellectual disability. The study aimed to: 1) explore parents’ and genetic counselors’ current use of terminology to describe persons with intellectual disability; 2) gauge parents’ and genetic counselors’ opinions about the most appropriate term to describe persons with intellectual disability; 3) determine whether specific settings impact the choice of terminology when 8 referring to a person with intellectual disability 4) compare levels of awareness of Rosa’s law between parents and genetic counselors and assess if awareness of Rosa’s law impacts the preference of terminology used by genetic counselors and parents to describe individuals with intellectual disability. Using an online survey adapted from a published instrument (Nash, Hawkins, Kawchuk, & Shea, 2012), parents of children with intellectual disabilities and genetic counselors were recruited to determine their awareness of Rosa’s Law and what terminology they currently use to describe persons with intellectual disability. Participants were also asked about preferences as to what terminology should be used in specific settings. This study aimed to provide genetic counselors with insight into the terminology families of individuals with intellectual disability prefer be used to describe their family member’s thinking ability. It is anticipated that this will create a more accepting clinical environment for families to feel welcome to express their medical concerns without being offended by terminology used by their healthcare team. 9 CHAPTER 2: Purpose, Aims, and Hypothesis The purpose of this study was to examine how Rosa’s Law has impacted parents’ and genetic counselors’ use of terminology when describing persons with intellectual disability/mental retardation. The aims of this study were to: 1. Explore parent and genetic counselor current use of terminology to describe persons with intellectual disability. 2. Gauge parents’ and genetic counselors’ opinions about what is the most appropriate term to describe persons with intellectual disability. 3. Determine whether specific settings impact the choice of terminology when referring to a person with intellectual disability. 4. Compare responses in the awareness of Rosa’s law between parents and genetic counselors and assess if awareness of Rosa’s law impacts the preference of terminology used by genetic counselors and parents to describe individuals with intellectual disability. It was hypothesized that genetic counselors were less likely to be aware of Rosa’s Law, and still use the term mental retardation in a clinical setting. It was also hypothesized that parents were more aware of Rosa’s Law than genetic counselors and prefer a term other than mental retardation to describe their children’s thinking ability. 10 CHAPTER 3: Background Mental Retardation/Intellectual Disability Mental retardation, or more recently termed intellectual disability, occurs in approximately 2-3% of the population and is characterized by a cognitive ability that is below average (IQ<70) and a decreased ability to adapt to the environment (Daily, Ardinger, Holmes, 2000). Genetics professionals play a major role in counseling families regarding the potential risk
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