Clin Genet 2014 Printed in Singapore. All rights reserved
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd CLINICAL GENETICS doi: 10.1111/cge.12514
Social and Behavioural Research in Clinical Genetics Section Editor: Aad Tibben, email: [email protected]
Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children Chen L.S., Li C, Wang C.H., Amuta A, Li M, Huang T.Y., Dhar S.U., Talwar D, Jung E. Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children. Clin Genet 2014. © John Wiley & Sons A/S. Published by John Wiley & Sons Ltd, 2014 In Taiwan, autism spectrum disorders (ASDs) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of ASD makes it increasingly important to examine how parents of children with ASD perceive the causes and recurrence risk of having another child with ASD. These perceptions may influence their family planning, attitudes toward genetic services, and willingness to take their children for ASD genetic testing. However, previous studies addressing this issue were conducted primarily in Western countries. As culture might shape an individual’s views of genetic/genomic disorders, this first-of-its-kind study examined the perceptions of the genetic etiology for ASD and the recurrence risk among Taiwanese parents of children affected with ASD. In-depth, semi-structured interviews were conducted among 39 parents having at least one child with ASD. Although the majority of participants believed that ASD has a genetic link, less than half perceived genetic factors as the cause of their own child’s ASD. Moreover, most participants articulated their recurrence risk incorrectly. Some parents were concerned about their doctors’ limited genomic competencies. To provide parents with better education, counseling, and support for making reproductive decisions, ASD-related genomic education among Taiwanese physicians is needed. Conflict of interest
The authors have no conflicts of interest relevant to this article to disclose.
In Taiwan, autism spectrum disorders (ASDs), the fastest growing disabilities with a 16.5% yearly growth rate, are an emerging public health concern (1). Higher than the global prevalence of 7.6 per 1000 persons (2), the ASD prevalence rate in Taiwan is 12.3 per 1000 persons (3). The ratio of males to females is 3.2:1 (19.2 per 1000 males: 6 per 1000 females) (3). Research suggests a genetic association toward the development of ASD (4–7), and its heritability lies between 37% and 90% (8). For parents with one child diagnosed with ASD,
L.S. Chena , C. Lib , C.H. Wangc , A. Amutaa , M. Lia , T.Y. Huangc , S.U. Dhard , D. Talwara and E. Junga a Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA, b Department of Foreign Languages, WeiFang Medical University, Shandong, China, c Department of Special Education, National HsinChu University of Education, HsinChu, Taiwan, and d Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
Key words: autism – etiology – genetics – risk perceptions – Taiwan Corresponding author: Lei-Shih Chen, Department of Health and Kinesiology, Texas A&M University, 4243 TAMU, College Station, TX, USA. Tel.: +1 979 862 2912; e-mail: [email protected] Received 21 July 2014, revised and accepted for publication 11 September 2014
the risk of having another child with ASD is generally between 5% and 19% (9–11).With two or more children diagnosed with ASD, the recurrence risk rises to about 35% (10, 12). The scientific progress in understanding the genetic etiology of ASD makes it important to recognize how parents of children with ASD perceive the causes of ASD and their recurrence risk of having another affected child. These issues are important because parents’ perceptions may influence their decisions regarding family
1
Chen et al. planning, attitudes toward genetic services, and willingness to take children for genetic testing (13, 14). Several studies have examined the perceived causes and recurrence risk among parents of children with ASD (14–20). These studies found genetics as one of the most commonly identified causal factors (14, 16–20), and most parents reported incorrect recurrence risk perceptions (14–16). While previous studies helped understand the perceived genetic causes and recurrence risk of ASD among parents of affected children, these studies were conducted primarily in Western countries. As culture might shape people’s views of genomic/genetic disorders (21), it is critical to examine this topic in non-Western countries. Specifically, because having children with a genetic/genomic disorder is considered a stigma in Asian culture (22), past research findings from Western countries may not be generalizable to the Asian population. This first study (to the best of our knowledge) attempts to explore the perceptions of Taiwanese parents of children with ASD regarding (i) the genetic component of ASD in general, (ii) the genetic causes of ASD, specifically for their own child, and (iii) their perceived recurrence risk of having another child with ASD. Materials and methods Participants
The eligibility criteria for participating in this research were Taiwanese parents with at least one child diagnosed with ASD. One of the authors (C.H.W.) was the leader of the Hsinchu Association of Autism. She and one graduate student recruited potential participants through her network and several major Autism Associations in Taiwan (e.g., Autism Society of Taiwan R.O.C., Hsinchu Association of Autism, Changhua County Autism Association, and Taichung County Autism Association). The background and potential impact of our study were explained to the parents at the time of recruitment. Nearly all parents we contacted agreed to participate in this study. Once the participants signed the informed consent, they were interviewed. The sample comprised 39 Taiwanese parents with 40 ASD-affected children (one parent had two children with ASD). Study design
A qualitative research approach was used to obtain rich, in-depth data on Taiwanese parents’ perceptions of ASD (23). The Institutional Review Board at Texas A&M University approved our study protocol. On the basis of previous literature (14, 16), a semi-structured interview guide was developed. The interview guide was later reviewed by a panel of experts in special education, genetics/genomics, health promotion, and qualitative research. Participants also provided demographic information for themselves, their partners, and their ASD-affected children. All interviews were conducted face-to-face with an average duration of 131 min (SD = 75.6 min). We
2
audio-recorded and took field notes during the interviews. Participants received a compensation of New Taiwan Dollar (NT$) 500 (∼US$ 16.7). Data analysis
Each interview was transcribed verbatim. Using the content analysis approach (23), three authors (L.S.C., C.L., and M.L.) discussed and extracted data to code subthemes. The emerging subthemes were then combined into relevant themes with the assistance of QSR Nvivo 8. Results Sample characteristics
Among the 39 participants, 79.5% (n = 31) were mothers and 20.5% (n = 8) were fathers, with a mean age of 42 years. Moreover, 61.5% (n = 24) had a college or higher education degree. Participants’ annual household income was grouped into three categories: less than NT$ 600K (US$ 33K) (n = 13; 33.3%). Six interviewees (15.4%) did not believe in any religion, but others’ religious affiliations included 30.8% (n = 12) were Buddhists, 17.9% (n = 7) practiced Folk religion, 12.8% (n = 5) were Taoists, 12.8% (n = 5) were Christians, and 10.3% (n = 4) belonged to other religions (Table 1). Parents’ perceptions of the genetic component of ASD in general
Participants were asked whether ASD had a genetic/genomic etiology, and 74.4% (n = 29) believed that ASD have a genetic link, 7.7% (n = 3) believed otherwise, and 17.9% (n = 7) were undecided (Table 2). The following sections explain their reasoning. Participants who believed that ASD had a genetic component (n = 29)
Twenty-nine participants (74.4%) acknowledged the genetic basis of ASD, and the majority’s perceptions (n = 17) were based on their family health history (FHH). For example, nine mothers believed that their child’s ASD condition was inherited from the paternal families. Moreover, six participants reported that they did not have an FHH of ASD, but, in their observation, many affected children had a FHH of ASD and/or these children’s parents had some ASD-related characteristics. This propelled them to believe that while genes did not cause their own child’s ASD, it exhibited a genetic linkage among other families. Three parents recognized a genetic basis for ASD because they obtained this information from the mass media. Another three respondents’ beliefs were based on their ‘intuition’. As one interviewee explained, there might be ‘an underlying genetic cause’ to explain why increasing numbers of children were being diagnosed with ASD in recent years.
Autism spectrum disorders in Taiwan Table 1. Sample characteristics of Taiwanese parents of children with ASD (n = 39)
Table 2. Parents’ perceptions of the genetic component of ASD in general (n = 39)a
Characteristics
Parents’ perception
Gender Female Male Age of parents, mean ± SD (range) Education High school diploma or less Some college College graduate or above Marital status Married Divorced Employment status Employed Part-time Unemployed Annual household income
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd CLINICAL GENETICS doi: 10.1111/cge.12514
Social and Behavioural Research in Clinical Genetics Section Editor: Aad Tibben, email: [email protected]
Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children Chen L.S., Li C, Wang C.H., Amuta A, Li M, Huang T.Y., Dhar S.U., Talwar D, Jung E. Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children. Clin Genet 2014. © John Wiley & Sons A/S. Published by John Wiley & Sons Ltd, 2014 In Taiwan, autism spectrum disorders (ASDs) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of ASD makes it increasingly important to examine how parents of children with ASD perceive the causes and recurrence risk of having another child with ASD. These perceptions may influence their family planning, attitudes toward genetic services, and willingness to take their children for ASD genetic testing. However, previous studies addressing this issue were conducted primarily in Western countries. As culture might shape an individual’s views of genetic/genomic disorders, this first-of-its-kind study examined the perceptions of the genetic etiology for ASD and the recurrence risk among Taiwanese parents of children affected with ASD. In-depth, semi-structured interviews were conducted among 39 parents having at least one child with ASD. Although the majority of participants believed that ASD has a genetic link, less than half perceived genetic factors as the cause of their own child’s ASD. Moreover, most participants articulated their recurrence risk incorrectly. Some parents were concerned about their doctors’ limited genomic competencies. To provide parents with better education, counseling, and support for making reproductive decisions, ASD-related genomic education among Taiwanese physicians is needed. Conflict of interest
The authors have no conflicts of interest relevant to this article to disclose.
In Taiwan, autism spectrum disorders (ASDs), the fastest growing disabilities with a 16.5% yearly growth rate, are an emerging public health concern (1). Higher than the global prevalence of 7.6 per 1000 persons (2), the ASD prevalence rate in Taiwan is 12.3 per 1000 persons (3). The ratio of males to females is 3.2:1 (19.2 per 1000 males: 6 per 1000 females) (3). Research suggests a genetic association toward the development of ASD (4–7), and its heritability lies between 37% and 90% (8). For parents with one child diagnosed with ASD,
L.S. Chena , C. Lib , C.H. Wangc , A. Amutaa , M. Lia , T.Y. Huangc , S.U. Dhard , D. Talwara and E. Junga a Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA, b Department of Foreign Languages, WeiFang Medical University, Shandong, China, c Department of Special Education, National HsinChu University of Education, HsinChu, Taiwan, and d Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
Key words: autism – etiology – genetics – risk perceptions – Taiwan Corresponding author: Lei-Shih Chen, Department of Health and Kinesiology, Texas A&M University, 4243 TAMU, College Station, TX, USA. Tel.: +1 979 862 2912; e-mail: [email protected] Received 21 July 2014, revised and accepted for publication 11 September 2014
the risk of having another child with ASD is generally between 5% and 19% (9–11).With two or more children diagnosed with ASD, the recurrence risk rises to about 35% (10, 12). The scientific progress in understanding the genetic etiology of ASD makes it important to recognize how parents of children with ASD perceive the causes of ASD and their recurrence risk of having another affected child. These issues are important because parents’ perceptions may influence their decisions regarding family
1
Chen et al. planning, attitudes toward genetic services, and willingness to take children for genetic testing (13, 14). Several studies have examined the perceived causes and recurrence risk among parents of children with ASD (14–20). These studies found genetics as one of the most commonly identified causal factors (14, 16–20), and most parents reported incorrect recurrence risk perceptions (14–16). While previous studies helped understand the perceived genetic causes and recurrence risk of ASD among parents of affected children, these studies were conducted primarily in Western countries. As culture might shape people’s views of genomic/genetic disorders (21), it is critical to examine this topic in non-Western countries. Specifically, because having children with a genetic/genomic disorder is considered a stigma in Asian culture (22), past research findings from Western countries may not be generalizable to the Asian population. This first study (to the best of our knowledge) attempts to explore the perceptions of Taiwanese parents of children with ASD regarding (i) the genetic component of ASD in general, (ii) the genetic causes of ASD, specifically for their own child, and (iii) their perceived recurrence risk of having another child with ASD. Materials and methods Participants
The eligibility criteria for participating in this research were Taiwanese parents with at least one child diagnosed with ASD. One of the authors (C.H.W.) was the leader of the Hsinchu Association of Autism. She and one graduate student recruited potential participants through her network and several major Autism Associations in Taiwan (e.g., Autism Society of Taiwan R.O.C., Hsinchu Association of Autism, Changhua County Autism Association, and Taichung County Autism Association). The background and potential impact of our study were explained to the parents at the time of recruitment. Nearly all parents we contacted agreed to participate in this study. Once the participants signed the informed consent, they were interviewed. The sample comprised 39 Taiwanese parents with 40 ASD-affected children (one parent had two children with ASD). Study design
A qualitative research approach was used to obtain rich, in-depth data on Taiwanese parents’ perceptions of ASD (23). The Institutional Review Board at Texas A&M University approved our study protocol. On the basis of previous literature (14, 16), a semi-structured interview guide was developed. The interview guide was later reviewed by a panel of experts in special education, genetics/genomics, health promotion, and qualitative research. Participants also provided demographic information for themselves, their partners, and their ASD-affected children. All interviews were conducted face-to-face with an average duration of 131 min (SD = 75.6 min). We
2
audio-recorded and took field notes during the interviews. Participants received a compensation of New Taiwan Dollar (NT$) 500 (∼US$ 16.7). Data analysis
Each interview was transcribed verbatim. Using the content analysis approach (23), three authors (L.S.C., C.L., and M.L.) discussed and extracted data to code subthemes. The emerging subthemes were then combined into relevant themes with the assistance of QSR Nvivo 8. Results Sample characteristics
Among the 39 participants, 79.5% (n = 31) were mothers and 20.5% (n = 8) were fathers, with a mean age of 42 years. Moreover, 61.5% (n = 24) had a college or higher education degree. Participants’ annual household income was grouped into three categories: less than NT$ 600K (US$ 33K) (n = 13; 33.3%). Six interviewees (15.4%) did not believe in any religion, but others’ religious affiliations included 30.8% (n = 12) were Buddhists, 17.9% (n = 7) practiced Folk religion, 12.8% (n = 5) were Taoists, 12.8% (n = 5) were Christians, and 10.3% (n = 4) belonged to other religions (Table 1). Parents’ perceptions of the genetic component of ASD in general
Participants were asked whether ASD had a genetic/genomic etiology, and 74.4% (n = 29) believed that ASD have a genetic link, 7.7% (n = 3) believed otherwise, and 17.9% (n = 7) were undecided (Table 2). The following sections explain their reasoning. Participants who believed that ASD had a genetic component (n = 29)
Twenty-nine participants (74.4%) acknowledged the genetic basis of ASD, and the majority’s perceptions (n = 17) were based on their family health history (FHH). For example, nine mothers believed that their child’s ASD condition was inherited from the paternal families. Moreover, six participants reported that they did not have an FHH of ASD, but, in their observation, many affected children had a FHH of ASD and/or these children’s parents had some ASD-related characteristics. This propelled them to believe that while genes did not cause their own child’s ASD, it exhibited a genetic linkage among other families. Three parents recognized a genetic basis for ASD because they obtained this information from the mass media. Another three respondents’ beliefs were based on their ‘intuition’. As one interviewee explained, there might be ‘an underlying genetic cause’ to explain why increasing numbers of children were being diagnosed with ASD in recent years.
Autism spectrum disorders in Taiwan Table 1. Sample characteristics of Taiwanese parents of children with ASD (n = 39)
Table 2. Parents’ perceptions of the genetic component of ASD in general (n = 39)a
Characteristics
Parents’ perception
Gender Female Male Age of parents, mean ± SD (range) Education High school diploma or less Some college College graduate or above Marital status Married Divorced Employment status Employed Part-time Unemployed Annual household income
