Assessing parental attitudes toward genetic testing for childhood hearing loss: before and after genetic consultation

We report on the development of a Genetic Attitude Assessment Tool (GAAT) to measure parental attitudes in contemplating genetic testing for childhood hearing loss, and to examine the differences in assessments made before and after genetic counseling. The GAAT tool was administered to a convenient sample of 119 parents of children with bilateral sensorineural hearing loss. The respondents completed the survey either before (n = 77) or after (n = 42) genetic counseling. Exploratory Factor Analysis was applied to identify and quantify the underlying psychosocial structure. Our results showed the validated 54-item GAAT instrument contains six subscales: (1) "test intention," (2) "beliefs in non-genetic causes of hearing loss," (3) "deferral of decision to undergo genetic testing," (4) "appropriate use of genetic testing results," (5) "beliefs in the benefits," and (6) "concerns about stigma." The respondents who answered the survey after genetic counseling had higher "test intention" (P = 0.017) and endorsed to a greater extent "beliefs in the benefits" (P < 0.001). They believed to a lesser extent that childhood hearing loss was due to "non-genetic causes" (P < 0.001) and were less inclined to prefer "decision deferral" (P = 0.031). Respondents who themselves had a hearing loss expressed a significantly weaker belief in "non-genetic causes" of hearing loss (P < 0.0001). In conclusion the validated GAAT instrument is responsive to changes in parental attitudes after genetic counseling. The GAAT may be used to monitor parental attitudes serially, to further understand how parental attitudes change from pre genetic counseling, post genetic counseling, to post test result disclosure.     

Parents'' responses to predictive genetic testing in their children: report of a single case study.

There is a widely held view among health professionals that predictive genetic testing of children for late onset diseases is not desirable clinical practice. Yet, little is known about the views of parents, or their responses, to predictive genetic testing in their children. Since such testing is being carried out in some genetic centres, the opportunity was taken to conduct a single case study of the parents of 2 and 4 year old sisters who were tested for the gene for familial adenomatous polyposis. Interviews before testing, after, and 15 months later showed a stable attitude, that parental responsibility included making decisions about such testing, and that the role of health professionals should be one of information giving rather than decision making. These parents had no regrets about having their children tested and reported no changes in their behaviour towards either the child who tested positively or the child who tested negatively. Using standardised scales, mood was found to be within the normal range both before and after testing in the mother and father. This case study is a first step towards systematic empirical studies determining the consequences of acquiescing to parents' requests for genetic testing in their children.     

Parental attitudes regarding newborn screening of PKU and DMD

The ability to perform predictive genetic testing of children raises ethical concerns. Current guidelines support the screening of newborns for conditions in which early treatment reduces morbidity and mortality, and oppose most other predictive genetic screening and testing in childhood. Little is known, however, about parental attitudes. We conducted focus groups to gain information on the attitudes, beliefs, and concerns of parents about newborn screening and testing for both treatable and untreatable conditions that present in childhood. Respondents across racial groups support mandatory newborn screening for treatable conditions like phenylketonuria (PKU), citing lack of parental knowledge, and concerns about immature parental decision-makers. Parents do, however, want more information. Citing a variety of psychosocial concerns, respondents believe that parents should have access to predictive genetic testing for childhood onset conditions, even when there are no proven treatments. Respondents want this information to make reproductive and non-reproductive plans and decisions. Although respondents varied in their personal interest in testing, overwhelmingly they believed that the decisions belong to the parents. Professional guidelines that proscribe predictive testing for untreatable childhood onset conditions should be re-examined in light of consumer attitudes.     

Parental expectations of raising a child with disability in decision-making for prenatal testing and termination of pregnancy: A mixed methods study

ObjectiveTo examine attitudes toward prenatal testing and termination of pregnancy (TOP) among parents and obstetric providers in relation to their views on raising a child with disability.MethodsAn explanatory sequential mixed methods study. A survey among 274 parents and 141 providers was followed by interviews with 26 parents and 10 providers. Using multivariate analysis, the relationships between attitudes were examined. Thematic analysis was used to identify the reasons behind the attitudes.ResultsIn comparison with providers, parents reported more positive attitudes toward raising a child with disability and more moral views about TOP. Providers reported more variations in attitudes toward offering prenatal testing and TOP. Significant associations were found between attitudes toward prenatal testing, raising a child with disability, reproductive autonomy, and TOP. Three major themes were identified: (1) meanings of parenthood from genetic tests; (2) views toward TOP and parental responsibility; and (3) implications of advanced extended prenatal genetic testing.ConclusionsPerceived social–cultural norms of disabilities and parental expectations of raising a child with disability influence decision-making regarding TOP.Practice ImplicationsAs more conditions of the fetus are able to be detected, the social–cultural implications of the technology and disabilities need to be addressed in antenatal care.     

A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

PURPOSE: Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to assess consumer attitudes toward these advances have lagged behind. METHODS: Consumer focus groups were held to explore attitudes toward genetic advances and technologies for hearing loss, views about newborn hearing screening, and reactions to the idea of adding molecular screening for hearing loss at birth. Focus group discussions were recorded, transcribed and analyzed. RESULTS: Five focus groups with 44 participants including hearing parents of deaf children, deaf parents and young deaf adults were held. Focus group participants supported the use of genetic tests to identify the etiology of hearing loss but were concerned that genetic information might influence reproductive decisions. Molecular newborn screening was advocated by some; however, others expressed concern about its effectiveness. CONCLUSION: Documenting the attitudes of parents and other consumers toward genetic technologies establishes the framework for discussions on the appropriateness of molecular newborn screening for hearing loss and informs specialists about potential areas of public education necessary prior to the implementation of such screening.     

Legislated right for donor-insemination children to know their genetic origin: a study of parental thinking

BACKGROUND: In Sweden, a child born as a result of donor insemination (DI) has the right to receive information both about the DI and the identity of the donor. The present study aimed to elucidate parents' thoughts regarding these possibilities, and whether, how and when they had told their offspring about the DI. An additional aim was to examine the parents' experiences of the attitudes of healthcare providers. METHODS: A follow-up study using semi-structured telephone interviews with 19 couples, including 19 women and 17 men. RESULTS: More than half of the parents (61%) had told all their child/ren about the DI, but almost everyone had told another person. Mean age for disclosure was 5 years for the first child. Reasons given for disclosure were to avoid accidental discovery, a desire for openness and a persons' fundamental right to know his/her genetic origin. Parents who did not intend to tell their child/ren considered DI a private matter and were afraid of other people's attitudes. Sixty-one percent of the parents had not yet told their children about the possibility of identifying the donor. Healthcare staff had impacted on the parents' thinking, and a majority of those who had been encouraged to tell their child/ren about the DI had done so. CONCLUSIONS: There was a discrepancy between the intentions of the legislation and how parents act in relation to them. To improve compliance, it is crucial to organize education, support and ethical discussion among professionals, and to offer parents, and parents-to-be, counselling, support and group sessions with other DI families.     

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty‐eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi‐structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty‐six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis. © 2012 Wiley Periodicals, Inc.     

Factors associated with retaliatory attitudes among African American adolescents who have been assaulted

OBJECTIVES: (a) To describe attitudes regarding retaliation among adolescents who have been assaulted. (b) To examine assault/event characteristics, personal, parental, and environmental factors associated with the retaliatory attitudes of adolescents who have been assaulted. METHODS: African American youth aged 10-15 years presenting to two large urban hospitals with peer assault injury and a parent/caregiver completed interviews in their home after their emergency department visit. RESULTS: Multivariate analyses revealed that lower SES, older age, and adolescents' perceptions that their parents support fighting were related to endorsing retaliatory attitudes. Girls who were aggressive were more likely to endorse retaliatory attitudes. However, level of aggression did not impact boys' retaliatory attitudes. Affiliating with aggressive peers influenced the retaliatory attitudes of boys, but did not influence girls' retaliatory attitudes. Overall, youths' perceptions of their parents' attitudes toward fighting had the greatest impact on retaliatory attitudes. CONCLUSIONS: Adolescents' perceptions of their parents' attitudes toward fighting may be a factor in subsequent re-injury among youth. Violence prevention and intervention efforts need to involve components that assess parental attitudes and incorporate strategies to engage parents in violence prevention efforts. In addition, interventions for youth who have been assaulted may need to incorporate some gender-specific components in order to address the unique needs of girls and boys.     

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutations in GJB2 has been found to be associated with hearing loss, including another deletion mutation, 167delT, which has a carrier rate of about 4% in the Ashkenazi Jewish population. Mutations in GJB2 have also been found to be associated with dominant nonsyndromic hearing loss, DFNA3. Clinical studies have shown that the recessive hearing loss can vary from mild to profound, even within the same sibship. This type of hearing loss is nonsyndromic and is accompanied by normal vision, vestibular responses, and no malformations of the inner ear detectable by computed tomography scanning. Progressive and asymmetrical hearing loss has been noted in some cases, but it accounts for fewer than one-third of the cases of this type of hearing loss. The discovery of mutations in GJB2 that cause hearing loss has profound implications in the early diagnosis of hearing loss in general. The relative ease of diagnosis by genetic testing of Cx26 permits early identification of children with GJB2/DFNB1 hearing loss. This testing, coupled with hearing loss diagnosed by infant auditory brainstem response audiometry, will ensure that hearing-impaired children and their parents receive proper medical, audiologic, genetic, and educational counseling. Am. J. Med. Genet. (Semin. Med. Genet.) 89:130-136, 1999.     

Autism genetic testing: a qualitative study of awareness,attitudes, and experiences among parents of children with autism spectrum disorders

PurposeThe goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.MethodsWe conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.ResultsApproximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.ConclusionAs health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med 2013:15(4):274–281     

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling

Little is known about the impact of genetic counseling on parental uncertainty or perceived control regarding the prognosis of a child with a chromosomal disorder. By exploring the parents' concerns and needs surrounding the child's diagnosis, a genetic provider can help to facilitate effective coping. This study tested the association of measures of parental uncertainty and perceived control with the perceived helpfulness of the genetic counselor. A survey was distributed to 875 members of the Chromosome Deletion Outreach (CDO) support group. We hypothesized that parents' perceptions about the helpfulness of the genetic counselor would modify the relationship between perceived uncertainty, perceived control, and coping. Among the 363 respondents, there was a significant negative correlation of the perceived helpfulness of seeing a genetic counselor with the levels of uncertainty (rs = -0.20, P-value < 0.001). Lower perceived helpfulness of the genetic counselor, along with less perceived personal control, less benefit of a diagnosis, and lower parental age were significant predictors of the highest perceptions of uncertainty. The Transactional Model of Stress and Coping was used as a framework for interpreting the relationships between parental uncertainty, perceived control, and outcome variables. There was a significant positive correlation between parents' perceived personal control and their reports of helpfulness of the genetic counselor (rs = 0.20, P-value <0.0006). Genetic counseling can be enhanced for parents faced with rare disorders by using interventions focused on reducing feelings of uncertainty and enhancing feelings of control.     

Attitudes toward the genetic testing of children among adults in a Utah-based kindred tested for a BRCA1 mutation

Advances in molecular biology and genetics have led to the identification of the breast/ovarian cancer susceptibility genes BRCA1 and BRCA2, along with tests to detect mutations in these genes. Although the appropriateness of BRCA1/2 genetic testing for children has been debated in the literature, little is known about the attitudes of individuals who have undergone cancer susceptibility testing. The present study focused on attitudes toward BRCA1 testing for children among 218 adults from a Utah-based kindred who had received BRCA1 test results. Results indicated that approximately one-fourth of the participants would permit BRCA1 testing for children under the age of 18. General attitudes about genetic testing were predictive of attitudes toward the testing of children. In addition, men and individuals without a BRCA1 mutation were more likely to agree that minors should be allowed BRCA1 testing. Individuals whose mother had been affected with breast cancer were less likely to permit testing for minors. Among parents of minor children, less than one-fifth indicated that they would want BRCA1 testing for their own children; carrier status was not predictive of attitudes toward testing their own children. As breast/ovarian cancer susceptibility testing continues to be disseminated into clinical settings, there may be an increase in the number of test requests for minors. The findings of the present study represent an important step in exploring attitudes about genetic testing of children among individuals who have received cancer susceptibility test results.     

Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases

Familial hypercholesterolemia, hypertrophic cardiomyopathy, and long QT Syndrome are genetic cardiovascular conditions which may lead to sudden cardiac death at a young age. Preventive measures include lifestyle modifications, medications, and/or cardiac devices. Hence, identification of carrier children can protect them for the potentially life threatening consequences at a young age. Yet, informing children about their genetic risk status and subjecting them to treatment may have negative consequences. This preliminary study aimed to explore (1) how the health-related quality of life of carrier children compares to the quality of life of Dutch children in general; and (2) to what extent the carrier children's quality of life and their parents' perception thereof concur. Our method involved carrier children (n = 35), aged between 8 and 18 years, and their parents (n = 37) who completed a self-report questionnaire. Children's health-related quality of life was assessed with a children and parent version of the KIDSCREEN. Dutch reference data were available from a representative national sample. Our results show no statistically significant differences in scores between carrier children and the reference group. Also, no differences were found between carrier children and their parents' ratings, with the exception of the scale "psychological well being". Parents rated their child's psychological well being significantly lower. We identified no problems with the well-being of carrier children as compared to a representative sample of peers. This may offer some initial reassurance to those who have concerns about the implications of genetically testing children for one of these cardiovascular conditions. Yet, attention to possible problems in these children remains warranted.     

Attitudes toward the genetic testing of children among adults in a Utah‐based kindred tested for a BRCA1 mutation

Advances in molecular biology and genetics have led to the identification of the breast/ovarian cancer susceptibility genes BRCA1 and BRCA2, along with tests to detect mutations in these genes. Although the appropriateness of BRCA1/2 genetic testing for children has been debated in the literature, little is known about the attitudes of individuals who have undergone cancer susceptibility testing. The present study focused on attitudes toward BRCA1 testing for children among 218 adults from a Utah‐based kindred who had received BRCA1 test results. Results indicated that approximately one‐fourth of the participants would permit BRCA1 testing for children under the age of 18. General attitudes about genetic testing were predictive of attitudes toward the testing of children. In addition, men and individuals without a BRCA1 mutation were more likely to agree that minors should be allowed BRCA1 testing. Individuals whose mother had been affected with breast cancer were less likely to permit testing for minors. Among parents of minor children, less than one‐fifth indicated that they would want BRCA1 testing for their own children; carrier status was not predictive of attitudes toward testing their own children. As breast/ovarian cancer susceptibility testing continues to be disseminated into clinical settings, there may be an increase in the number of test requests for minors. The findings of the present study represent an important step in exploring attitudes about genetic testing of children among individuals who have received cancer susceptibility test results. Am. J. Med. Genet. 92:25–32, 2000. © 2000 Wiley‐Liss, Inc.     

小学生家长对儿童性虐待的认识

目的：了解小学生家长有关预防儿童性虐待的知识、态度和与子女交流的情况。方法：用自填式问卷，对某学校以班级为单位整群抽取1—5年级5个班的271名小学生家长就其对儿童性虐待问题的认识及与孩子交流的情况进行不记名调查。结果：在被调查的家长中，93．6％的家长赞成学校进行预防儿童性虐待的教育，但同时有41．5％的家长担心这种教育可能会导致儿童对“性”知道得太多。有半数左右的家长在儿童性虐待问题认识上尚存在明显差距，与孩子交流不够，只有1．8％的家长给孩子看过有关预防儿童性虐待内容的书刊或音像制品。未成年时父母与其谈论过如何预防性虐待话题的家长其知识、态度及与自己子女交流的得分均明显好于父母没有与其谈论过如何预防性虐待话题的家长的得分。结论：应重视对小学生进行预防儿童性虐待教育的研究，尽快出版相关书籍和音像制品，提高家长对儿童性虐待问题的意识。     

Parent and child perceptions of the management of juvenile diabetes

Interviews were conducted with 34 children, ages 8 to 17, withinsulin-dependent diabetes mellitus and their parents. Theirresponses to questions about responsibility for disease managementwere compared with each other and with independent medical staffevaluations of parent and child coping, staff evaluations ofregimen compliance, biochemical indices of metabolic control,and parental estimates of metabolic control. Results suggestedthat (a) parents and children attached particular significanceto giving insulin injections as an indication of children'sindependence in diabetes management; (b) diet management wasa frequent source of parent-child conflict and was highly relatedto coping; (c) age at diabetes onset was a factor in adaptingto regimen; and (d) parents' views of metabolic control differedfrom those of professionals.     

情绪障碍儿童行为与父母教育子女方式的关系

目的探讨情绪障碍儿童的行为问题与情绪障碍儿童的父母教育子女方式特点的关系。方法选用子女教育心理控制源量表（PLOC）、Conners父母症状问卷（PSQ）、父母养育方式问卷（EMBU）,分别对82例情绪障碍儿童和82例正常儿童进行评定。结果情绪障碍儿童的父母在PLOC量表中教育成效、父母的责任、父母对命运/机遇的信念,父母对子女行为控制的评分高于对照组（P〈0.05）。PLOC的某些因素与情绪障碍儿童行为问题存在相关性。情绪障碍儿童父母双方都存在管教过严、惩罚严厉、过度干涉和保护过多,而关心理解和支持不够等消极的养育方式。结论情绪障碍儿童行为问题与父母教育方式有关。     

Transmission of Attitudes Toward Abortion and Gay Rights: Effects of Genes,Social Learning and Mate Selection

The biological and social transmission of attitudes toward abortion and gay rights are analyzed in a large sample of adult twins, siblings, and their parents. We present a linear model for family resemblance allowing for both genetic and cultural transmission of attitudes from parents to offspring, as well as phenotypic assortative mating (the tendency to marry like) and other environmental sources of twin and sibling resemblance that do not depend on the attitudes of their parents. The model gives a close fit to the patterns of similarity between relatives for the two items. Results are consistent with a substantial role of genetic liability in the transmission of both attitudes. Contrary to the dominant paradigm of the social and political sciences, the kinship data are consistent with a relatively minor non-genetic impact of parental attitudes on the development of adult attitudes in their children. By contrast, the choice of mate is a social action that has a marked impact on the polarization of social attitudes and on the long-term influence that parents exert upon the next generation. Edited by John K Hewitt.     

Social class and parenting children with mild and moderate mental retardation.

Based on Kohn's (1977) and Gecas' (1979) theories of social class and parenting values, the role of socioeconomic status (SES) as a determinant of parenting attitudes and behaviors and as a moderator of problems associated with raising children with handicaps was evaluated among 171 families raising a child with mild or moderate mental retardation. Self-report measures assessed mothers' and fathers' attitudes regarding control, independence, and closeness within the family, and parental and family problems. Supportive, aversive, and controlling parent-child interactions were observed in the home. As expected, higher SES was associated with parental attitudes and behaviors related to fostering independent initiative in the family, and lower SES parents exhibited relatively more controlling and negative behaviors. However, regardless of SES, controlling parental behaviors also were responsive to the level of functioning of the child with mental retardation. Consistent with an hypothesis about violations of SES-related values, negative and controlling interactions with the child were more highly correlated with the parents' reports of parental and family problems for upper SES as opposed to lower SES parents. Several models of SES and family adaptation are discussed.     

Mom or Dad Says I Shouldn't: Supervised and Unsupervised Children's Knowledge of Their Parents' Rules for Home Safety

Parents and their 8- to 10-year-old children completed matchedquestionnaires that inquired about what at-home problems wereimportant and worrisome, asked about what rules parents hadgenerated concerning potential problem situations, and suggestedseveral rules that parents and children might or might not adhereto, asking for acceptance or rejection of these rules. The parents'responses to a written questionnaire showed that the parentsrated emergency situations, encounters with strangers, playlocation, etc., as presenting important and worrisome problems,that they had formulated multiple rules concerning their children'sbehavior in these situations, and that they believed their childrenwere aware of these rules. However, the children's oral responsesto the questionnaire indicated clearly that children who wereleft unsupervised once, two to three times, or more than fourtimes a week, as well as children who were never left alone,were largely unaware of their parents' rules. These findingsare discussed in terms of their implications for child accidentprevention, child health, and child home security.