“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss

The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.     

Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors

Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents’ recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.     

Provision of Genetic Services for Hearing Loss: Results from a National Survey and Comparison to Insights Obtained from Previous Focus Group Discussions

Hearing loss is a common sensory deficit and more than 50% of affected individuals have a genetic etiology. The discovery of 40 genes and more than 100 loci involved in hearing loss has made genetic testing for some of these genes widely available. Genetic services for deafness are also being sought more often due to the early identification of hearing loss through newborn screening services. The motivations for pursuing genetic testing, and how genetic services are provided to the client may differ among individuals. Additionally, information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults. This study aimed to follow up on focus group studies published earlier with a quantitative survey instrument and assess the preference of consumers for provision of genetic services. We conducted a national survey of hearing and deaf parents of children with hearing loss and of deaf adults. Data was compared and analyzed by hearing status of the participant, their community affiliation and the genetic testing status using nominal logistic regression. Consistent with our focus group results, the survey participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. Statistically significant differences were noted in the preferred choice of provider based on the genetic testing status. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss. This data should help providers in clinical genetics keep patient preferences at the helm and provide culturally competent services.     

Quantitative autism traits in first degree relatives: evidence for the broader autism phenotype in fathers, but not in mothers and siblings

Autism spectrum disorder (ASD) symptoms are present in unaffected relatives and individuals from the general population. Results are inconclusive, however, on whether unaffected relatives have higher levels of quantitative autism traits (QAT) or not. This might be due to differences in research populations, because behavioral data and molecular genetic research suggest that the genetic etiology of ASD is different in multiplex and simplex families. We compared 117 unaffected siblings and 276 parents of at least one child with ASD with 280 children and 595 adults from the general population on the presence of QAT using the Social Responsiveness Scale (SRS). Mean SRS scores for siblings, control children, parents and control adults were 25.4, 26.6, 33.7 and 32.9. Fathers of children with ASD showed significantly higher levels of QAT than controls, but siblings and mothers did not. We could not detect a statistically significant difference in SRS scores between relatives from simplex and multiplex families. These results do not support the theory of differential (genetic) etiology in multiplex and simplex families and suggest that a carried genetic risk is generally not expressed phenotypically in most relatives, except in fathers.     

Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.     

After School Care for Children on the Autism Spectrum

Few programs exist for after school care designed to support children with Autism Spectrum Disorder (ASD). Not only do parents often depend on after school care, but also children with ASD are likely to benefit from opportunities to generalize skills in an authentic setting and interact with typically developing peers. This lack of support occurs at a time during which there is increasing research and community awareness regarding the need for high quality after school programs to support typically developing children. This study investigates reported experiences with and needs for after school care by parents of children with ASD. Survey results (N = 54) revealed that the majority of parents surveyed desired after school programs within their child’s school but are often denied access to such services or received low quality care for their child in after school programs. Recommendations are provided for future research and program development.     

The Amish: Perceptions of genetic disorders and services

Previous studies of the closed Amish population have proven to be valuable in the field of genetics, however they have not explored the Amish parents' opinions and attitudes concerning genetic conditions and services. This exploration is necessary in order to provide culturally sensitive health care to a population at an increased risk for certain genetic conditions. The purpose of the present study was to examine the Amish population's general knowledge of genetic disorders, services, and the terminology used in describing inherited conditions, as well as their attitudes toward medical care and ethical and reproductive issues. Information was obtained from 17 Amish families, 12 who had an incidence of a genetic condition and five who had one or more children with other special health care needs, during personal interviews conducted in their homes in Lancaster, Pennsylvania. Results of the interviews showed that the birth of an affected child did not deter subsequent reproduction, that the majority of the parents were never offered genetic counseling or prenatal testing, and that the parents are interested in understanding the cause of their children's problems and recurrence risks.     

Parental Attitudes,Beliefs, and Perceptions about Genetic Testing for FAP and Colorectal Cancer Surveillance in Minors

Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly 100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and cancer surveillance in children who are members of families affected by FAP will better equip clinicians to clarify misunderstandings and facilitate appropriate care. The aims of this study were to examine parental attitudes and beliefs regarding endoscopic surveillance and genetic testing in minors at risk for developing FAP. This cross-sectional study includes analyses of qualitative and quantitative interview data collected from parents of children with or at risk for FAP. This report includes data from 28 parents with a total of 51 biological children between 10–17 years of age. The parents had a clinical and/or genetic diagnosis of FAP. Most commonly reported facilitators included provider recommendation (surveillance) and personalized medical management (genetic testing). Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing).     

Parent‐selected interventions for infants at‐risk for autism spectrum disorders and their affected siblings

Infants with older siblings having Autism Spectrum Disorders (ASD) are at genetically increased risk for showing characteristics of ASD in the first 2 years of life. Parents, who already have at least one child with ASD, may closely monitor their later born children and implement interventions as soon as the children begin to show what the parents believe is aberrant behavior or development that may be early stages of ASD. To date, no study has examined the number and types of services and interventions these parents access for their at‐risk infants. Using a Service and Intervention Questionnaire developed for this study, we interviewed 23 parents involved in a larger prospective study of genetically at‐risk infants who reported developmental and/or behavior problems in their at‐risk infants. Parents reported utilizing a mean of 1.83 and 7.26 services and/or interventions for their at‐risk infants and older children with ASD, respectively. Two‐thirds of the interventions received by the infants were also given to their older affected siblings. The interventions included empirically validated approaches (e.g., early intensive behavioral intervention), professional services (speech–language therapy, occupational therapy), and non‐validated treatments (e.g., diet and vitamin therapies). Overall, 81 non‐validated and 18 validated interventions were used. On a Likert‐type rating scale, parents reported being involved and satisfied with what they generally thought were effective services. They felt more involved and satisfied with ABA, and felt it was more effective than non‐validated interventions. The findings suggest that parents with infants at‐risk for ASD and an older affected child will access a variety of autism services for both children, but the parents will implement primarily non‐validated interventions. Parent education is recommended to help parents make informed treatment decisions for their children. Copyright © 2009 John Wiley & Sons, Ltd.     

Addressing the Needs of Adolescents and Adults with Autism: A Crisis on the Horizon

The cohort of individuals with autism spectrum disorder (ASD) diagnosed as part of the first wave of what is often referred to as the autism epidemic is rapidly approaching adulthood. This cohort represents only the proverbial tip of the iceberg with some reports noting that 70% of the currently identified individuals with ASD are less than 14-years old. These numbers represent a looming crisis of unprecedented magnitude for adults with autism, their families, and the ill-prepared and underfunded adult service system charged with meeting their needs. A review of the current literature on outcomes for adults with ASD indicates that, independent of current ability levels, the vast majority of adults on the spectrum are either unemployed or underemployed and, further, that large numbers of adults with autism remain without any appropriate services. Many have had inadequate transition programming including little attention to service coordination, minimal direct family involvement and/or absence of treatment based on evidence-based practices. Lastly, issues related to staff and provider recruitment and retention present significant, systemic challenges to the provision of effective services. As such there is a significant and growing need for greater attention to individual needs of adults with ASD if we are provide the opportunity for a positive quality-of-life.     

Service Delivery Outcomes in ASD: Role of Parent Education,Empowerment, and Professional Partnerships

Children with Autism Spectrum Disorder (ASD) utilize a greater number of healthcare services compared to children with other developmental disabilities. Despite this, children with ASD remain at high risk for unmet service needs, which are compounded by differences in socioeconomic status (SES). Both empowerment and parent-professional partnership play a role in service outcomes and may be especially important in understanding these service disparities. Our goal was to better understand the contributions of these variables to service disparities in families of children with ASD. Two-hundred forty-nine parents of children with ASD between the ages of 3 and 20 participated in this online survey. Results support previous research highlighting high levels of unmet needs that are exacerbated by differences in parent education, a common indicator of SES. Empowerment and parent-professional partnership also predicted service delivery outcomes. While high quality partnership predicted greater service adequacy, empowerment was inversely related to services. Furthermore, an interaction found that highly empowered families experiencing poor quality partnerships reported worse service delivery outcomes, while empowerment was not a factor in services for families experiencing high quality partnerships. Parent-professional partnership partially mediated the relationship between parent education and service delivery outcomes. As such, increasing parent-professional partnerships through family-centered care and professional training may help to reduce education-related service disparities and improve satisfaction with care for families and children with ASD.     

Reflexive Social Orienting in Parents of Children with Autism Spectrum Disorders: Evidence from Gaze Cueing Paradigm

Twin and family studies have shown that Autism Spectrum Disorders (ASD) have a strong genetic basis and are highly heritable. First degree relatives of individuals with ASD often show mild expressions of autistic traits attributed to Broad Autism Phenotype (BAP). While numerous studies investigated different aspects of BAP, less research has been done on gaze orienting especially in parents. In the present investigation, 43 parents of children with ASD and 29 parents of typically developed children completed a modified version of gaze cueing paradigm. Results demonstrated that the control group used the eye gaze in a way that their RT was affected by congruent versus incongruent cues, while this effect was not observed in parents of individuals with ASD. Findings of the current study provide further evidence on gaze orienting deficits in parents of children with ASD, which might relate to their mild difficulties in mind-reading abilities and a common cognitive phenotype with their affected children.     

Termination of Mental Health Services for Children

In this paper, we examine the termination of children's mental health services. Analyses were based on the 901 families in the Fort Bragg Evaluation Project who participated at Wave 1 and Wave 2 six months later. The project compared a full continuum of care provided at a demonstration site with traditional care at two comparison sites. The results showed that in most cases families and providers were partners in decisions to terminate treatment. About half of the clients self-terminated or were terminated solely at the discretion of the provider. Providers tended to play a more dominant role in terminating restrictive services; families played a more central role in terminating outpatient care. Regardless of initial psychopathology, children in single-headed households, whose parents were dissatisfied with services, did not expect their child to cooperate with treatment and did not expect treatment to help their child, were more likely to terminate care than others. While the Demonstration site had significantly fewer terminations, the sites did not differ with regard to the reasons for termination, who participated in termination decisions, or the factors that affected the likelihood to terminate care. Of most interest, mental health outcomes among children who had terminated all care did not vary by reasons for termination or by who participated in the termination decision.     

Social Validity of a Training and Coaching Program for Parents of Children With Autism Spectrum Disorder on a Waiting List for Early Behavioral Intervention

Due to limited public resources, many children with autism spectrum disorder and their families must wait several months, if not years, to access early behavioral intervention (EBI) services. Service providers must thus develop alternative support models to assist families placed on waiting lists. The present study assessed the social validity of one such initiative, a training and coaching program for parents whose children had been put on a waiting list for EBI services. This program consisted of group training sessions on strategies to cope with their child’s disorder based on applied behavioral analysis and on one-hour, weekly follow-up meetings to support parents’ interventions with their child over the course of 12 months. Social validity was assessed through parental satisfaction with this program and their perception of its effects on themselves, the family, the child, and parental stress. The 94 participants were generally satisfied with the program overall, although they wished for more frequent and intensive interventions. They reported that the program had positive effects on their psychological well-being, their family’s quality of life, and their child’s behavior. However, parenting stress levels were found to have increased over the 12-month period. These results demonstrate that training and individually supporting parents can be beneficial for families of children with ASD who cannot have access to early behavioral intervention immediately upon receiving a diagnosis. Importantly, however, these lower-cost, parent-focused programs cannot be considered a substitute for more intensive and children-driven services.     

Autism,Attachment and Parenting: A Comparison of Children with Autism Spectrum Disorder,Mental Retardation,Language Disorder,and Non-clinical Children

Children with Autism Spectrum Disorder (ASD) have severe and pervasive impairments in the development of social interaction, which may affect the attachment relationship with their parents and may have an impact on parenting. In the current investigation 89 families with young children (mean age 26.5 months) were involved, who were diagnosed as ASD, mentally retarded (MR), or language delayed (LD), or part of a non-clinical comparison group. Attachment security was observed with the Brief Attachment Screening Questionnaire, and several parental self-report questionnaires assessed the parenting style, parental efficacy, parental experiences of daily hassles, social support, and psychological problems. Children with ASD were rated as less secure compared to the other clinical and normal comparison groups. Parents of non-clinical children reported higher levels of authoritative parenting than parents in the ASD group and in the total clinical group, and they also received less social support. Parents of children with ASD coped remarkably well with the challenges of raising a child with ASD.     

A Preliminary Study of Activation,Stress, and Self-Management of Parents of Children with Autism Spectrum Disorder

Children with autism spectrum disorder (ASD) and developmental disabilities are high users of services, yet very little is known about how parents of these children interact with the health care system. Further, compared to parents of children with other developmental disabilities, parents of children with ASD experience more stress and dissatisfaction with services. Current efforts for improving services point to a need for understanding caregivers’ perceptions of their own health-care related beliefs and actions. Activation is a construct that measures the belief, knowledge, action, and persistence of managing one’s health care needs. The objective of this preliminary study was to evaluate the activation of parents of children with ASD using an adapted parent activation measure (PAM) for children with developmental disabilities called the PAM-DD. Data were collected from parents who received treatment as usual from a community-based outpatient treatment planning service for children with ASD. PAM-DD scores were compared with parent ratings of stress, self-management, and service satisfaction. Results indicated that increased activation correlated positively with parent report of satisfaction and ability to self-manage child issues such as eating, sleeping, and behavior and correlated negatively with parenting stress. The study of activation shows promise as a feature of quality of care for parents of children with developmental disabilities.     

Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss

Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.     

Differential Effects of Child Difficulties on Family Burdens across Diagnostic Groups

Children with neurodevelopmental disorders, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID), have a variety of difficulties that can place considerable strain on their families. This study investigated the nature of family burdens (i.e., financial burden, need for respite, need for counseling, work changes, and care hours) by examining the effects of child characteristics (i.e., age, gender, and severity of condition), family characteristics (i.e., parent role, education, income, and number of children), and child difficulties (i.e., behavioral, adaptive, emotional, social, learning, and communicative). With representative survey data from parents of children with ADHD (n?=?8252), ASD (n?=?1448), or ID (n?=?949), ranging in age from 2 to 17 years old, we used Χ ², binary logistic regression, linear regression, and univariate analyses to answer our research questions. We found that parents of children with ADHD, ASD, and ID experienced different types and amounts of burdens, families of younger children experienced more burden than those of older children, and families with more income or more children experienced fewer burdens. Adaptive and behavioral difficulties had the greatest relative impact on families. Diagnosis moderated almost all of the relationships between child difficulties and family burden. Overall, these results suggest that providing services and supports that are tailored to the specific needs of each child and family will be necessary for enhancing quality of life.     

Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

Little is known about factors determining which families utilize genetic counseling services. We conducted semistructured interviews with parents of four children born with cystic fibrosis (CF) and ten with Down's syndrome (DS) to ascertain reasons for using, or not using, genetic counseling services in the state of Victoria, Australia. We also explored the usefulness of genetic counseling for the families who had experienced it, and the perceived role of genetic counseling. All mothers of children with CF see a genetic counselor as part of a structured education program following diagnosis through newborn screening. Information overload was identified by them as an important problem. There is no specific program for families of children with DS. Six of them had received genetic counseling and four had not, either because it was not specifically offered to them or because they did not pursue it in the context of misconceptions about its purpose. The timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis. Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt. Better awareness of genetic counseling by referring physicians, and providing counseling at more than one visit, may contribute to a more effective service.