Lived experiences of the diagnostic assessment process for fetal alcohol spectrum disorder: A systematic review of qualitative evidence

Theme: “Somethings not right”¹: Caregiver recognition and help-seeking for child's challenges

In three studies (Chamberlain et al., 2017; Salmon, 2008; Sanders & Buck, 2010), the assessment journey typically commenced when caregivers recognized behavioral challenges that prompted them to seek help (GRADE CERQual confidence level: Moderate). These challenges included oppositional defiance, aggressive behavior, and severe impulsivity, that for some children, was out of character. Caregivers also reflected on sleep problems, feeding difficulties and delayed developmental milestones when their child was younger. Chamberlain et al. (2017) reported that caregivers' parenting knowledge and experiences assisted them to recognize when their child's behavior was of concern to them.

Caregivers were proactive in contacting various health professionals and services, such as speech pathology, occupational therapy and educational psychology and information seeking through online researching, reading books, and other materials (Chamberlain et al., 2017; Sanders & Buck, 2010). Caregiver also reported implementing practical support strategies, such as engaging their child in dancing classes to improve coordination skills (Chamberlain et al., 2017).

Theme: “Nothing to worry about”¹: Dismissal of caregiver's concerns by health professionals

In three studies (Chamberlain et al., 2017; Salmon, 2008; Sanders & Buck, 2010), caregivers reported accessing numerous services for their child's behavioral concerns but perceived these to be unhelpful and in some cases negative, including not feeling listened to and having their concerns dismissed by health professionals (GRADE CERQual confidence level: High). In one study (Salmon, 2008), caregivers reported being viewed as a “neurotic” or “hypochondriac” by health professionals and one caregiver said their adolescent's behavior was labeled as “attention-seeking” (ps. e201-2). Salmon (2008) also reported that many biological mothers felt unsupported and “left to it, without sufficient information or explanation” for their child's behavioral challenges (p. e201). In one study (Chamberlain et al., 2017), caregivers reported feeling judged about their parenting style and said their child's difficulties were often attributed to family or environmental factors.

Theme: “Not on the radar”¹: FASD not considered or acknowledged

In seven studies (Doak et al., 2019; Duquette & Stodel, 2005; Petrenko et al., 2014; Salmon, 2008; Sanders & Buck, 2010; Thomas & Mukherjee, 2019; Watson et al., 2013), caregivers reported that FASD was not considered as a possible diagnostic outcome, even when caregivers raised the topic of PAE/FASD with health professionals (GRADE CERQual confidence level: High). In two studies (Salmon, 2008; Thomas & Mukherjee, 2019), biological mothers who disclosed alcohol consumption during pregnancy in the context of seeking a diagnosis, reported that health professionals refused to acknowledge FASD and described the label as associated with guilt and stigma for families. Caregivers also reported misconceptions among health professionals about timing of PAE and FASD, with one biological mother told that FASD “was not possible” due to drinking “too late in the game” (Watson et al., 2013, p. 108).

There was frustration among caregivers at the lack of FASD knowledge among health professionals when they attempted to seek a diagnosis, with reports that nobody “seemed to be cognizant of fetal alcohol” (Sanders & Buck, 2010, p. 312) or “had ever heard of FASD” (Salmon, 2008, p. e200). Some caregivers reported that when children did not have any discernible facial features, it was difficult to obtain a FASD diagnosis (Petrenko et al., 2014; Watson et al., 2013). This led to delays in receiving an accurate diagnosis and meant that children were initially assessed for alternative conditions. Doak et al. (2019) reported that nine of the 10 children included in their study had previously received another developmental-behavioral diagnosis, with caregivers in other studies similarly reporting prior diagnoses of autism, ADHD, learning disabilities or other mental health conditions (Duquette & Stodel, 2005; Petrenko et al., 2014; Sanders & Buck, 2010).

There was also a lack of prior knowledge of FASD among some caregivers. Doak et al. (2019) reported that more than half of caregivers said they were unaware of FASD until it was raised by a health professional, and one caregiver attributed their child's challenges to depression due to trauma. Some caregivers reported becoming aware of FASD as a potential diagnosis only when hearing others' stories, usually from television programs or movies, and recognizing similar challenges for their child (Duquette & Stodel, 2005; Petrenko et al., 2014). Sanders and Buck (2010) reported that while some nonbiological caregivers knew that alcohol was consumed during pregnancy, they were uninformed of the potential effects on their child's cognitive, learning, and behavioral functioning. In contrast, Chamberlain et al. (2017) reported that most caregivers had some prior understanding of FASD and believed it underpinned their child's difficulties prior to assessment. One caregiver in the study by Sanders and Buck (2010), who was aware of PAE, suspected FASD and initiated the diagnostic process when her child presented with “extreme behaviors” (p. e312).

Theme: “It shouldn't be this hard”²: Limited availability of diagnostic assessment services

Three studies (Petrenko et al., 2014; Thomas & Mukherjee, 2019; Watson et al., 2013) described caregiver's frustrations with accessing assessment services for FASD due to the limited number of providers and long waitlists when services were available (GRADE CERQual confidence level: Moderate). Petrenko et al. (2014) noted that participants identified only one provider in their region who had expertise in FASD assessment. In another study (Watson et al., 2013), caregivers reported having to videoconference with doctors and travel long distances to see specialists, while others (Thomas & Mukherjee, 2019) reported limited access to health professionals skilled in FASD diagnoses.

Theme: “People listened to me, they listened to the kids”³: A safe and supportive environment without judgement is validating and empowering

Two studies (Chamberlain et al., 2017; Doak et al., 2019) reported positive experiences with high levels of satisfaction and feelings of empowerment when attending a specialist FASD service (GRADE CERQual confidence level: Moderate). In both studies, caregivers described welcoming, supportive interactions with clinic staff who were helpful, reassuring, and respectful without being judgmental or stigmatizing. Biological mothers reported feeling accepted and did not feel blame from staff (Doak et al., 2019). Caregivers valued an assessment process that made them feel heard, and allowed for rapport building with both the caregiver and child (Chamberlain et al., 2017). For many caregivers, the assessment process was referred to as a validation of their experiences, often after a long period of searching for answers. Chamberlain et al. (2017) also noted that a multidisciplinary assessment was important for caregivers, enabling them to understand the extent and nature of their child's difficulties.

Theme: “Share it with anyone who would listen”⁴: Strengths-based diagnostic reports are a valuable resource

In three studies (Chamberlain et al., 2017; Doak et al., 2019; Hamilton et al., 2020), the diagnostic reports were noted by caregivers as a valuable resource to help them and others working with their child to understand strengths and areas of vulnerability (GRADE CERQual confidence level: High). Caregivers reported intentions to share reports with future health professionals, social services, youth justice personnel, and school staff. The diagnostic reports affirmed the difficulties caregivers experienced and empowered them to better convey their child's needs to other professionals (Chamberlain et al., 2017). Caregivers also reported benefits of a feedback session to schools provided by FASD diagnostic clinic staff in creating an understanding of their child's needs within the education context, enabling accommodations at school to assist their learning (Doak et al., 2019). Hamilton et al. (2020) noted the important differences in understanding diagnostic reports across client populations and demographics, with Aboriginal Australian caregivers describing difficulty engaging with Western medical information and the need for assistance to translate and better understand the language used.

Recommendations for supports were viewed by caregivers as an important aspect of feedback and diagnostic reports. Practical, strength-based strategies were particularly valued, and Aboriginal Australian caregivers noted that visual strategies were highly beneficial for communicating with their child or young person (Hamilton et al., 2020). However, some caregivers did not know how to implement the strategies, perceiving some recommendations as “unattainable” and beyond the reach of the family (Doak et al., 2019). One caregiver (Hamilton et al., 2020) questioned the relevance of the recommendations in the context of a lack of local services. Some caregivers reported feeling overwhelmed by the end of the feedback session and were not aware that recommendations for ongoing support had been given (Doak et al., 2019).

Theme: “It was really hard at first, but it was a relief to understand”⁵: Mixed emotions and improved insight

Eight studies (Chamberlain et al., 2017; Doak et al., 2019; Duquette & Stodel, 2005; Hamilton et al., 2020; Sanders & Buck, 2010; Temple et al., 2021; Thomas & Mukherjee, 2019; Watson et al., 2013) reported that while mixed feelings were experienced when receiving a FASD diagnosis, including a sense of relief, hope, and confidence, as well as grief, hopelessness, guilt, and shame, the diagnosis also provided improved understanding and insight (GRADE CERQual confidence level: High). Adults diagnosed with FASD reported that the diagnosis provided a sense of relief at knowing the reason for the challenges they experienced (Temple et al., 2021). Adults described that the diagnosis allowed them to have fewer negative feelings about themselves, because in the past they had experienced guilt and sometimes blamed themselves for the problems they experienced. Some adults described difficulty in accepting the lifelong nature of the disability and were ambivalent and struggling with what the diagnosis meant for their future (Temple et al., 2021).

In all caregiver groups, caregivers reported relief in receiving a diagnosis of FASD for their child, with a renewed sense of confidence to move forward and advocate for their child's needs (Chamberlain et al., 2017; Doak et al., 2019; Duquette & Stodel, 2005; Hamilton et al., 2020; Sanders & Buck, 2010; Thomas & Mukherjee, 2019). This sense of relief was primarily driven by the long journey in seeking an accurate diagnosis and validation of concerns. The diagnostic clarification and further information about FASD and the impacts of PAE reframed caregivers' expectations and helped them to understand their child's capabilities. Caregivers reported a new understanding of why their child behaved in certain ways, including putting into perspective certain tasks the child struggled with, as well as the reason for underlying academic, emotional, and social difficulties (Doak et al., 2019; Duquette & Stodel, 2005). They stopped blaming their child for causing some of the problems, understanding that behaviors were not intentional. Coupled with this positive reflection on the diagnosis, caregivers also experienced a grieving process and felt overwhelmed. Some caregivers described the “double whammy” of multiple diagnoses that indicated a complex profile for their child (Sanders & Buck, 2010, p. e312). Caregivers expressed feelings of guilt and regret related to mishandling previous behaviors they had considered as defiant and naughty (Chamberlain et al., 2017; Doak et al., 2019). There was an additional expression of grief and guilt by biological mothers, knowing that their alcohol consumption during pregnancy was related to their child's difficulties (Hamilton et al., 2020; Sanders & Buck, 2010; Thomas & Mukherjee, 2019). Some biological caregivers shared concerns regarding their future relationship with their child and how they may come to blame them for their difficulties.

Hamilton et al. (2020) explored responses to the diagnosis among Aboriginal and non-Aboriginal Australian caregivers. The way in which Aboriginal Australian caregivers discussed alcohol consumption during pregnancy largely reflected the intergenerational trauma and shame experienced by many Aboriginal peoples as a result of colonization and its ongoing impacts. Such experiences of shame underpinned fears of stigma and additional negative labels that could accompany a diagnosis of FASD for Aboriginal Australians. Concerns about the impact of the diagnosis were described in the context of how such a diagnosis would impact on connections to culture and community, for example, their child's participation in cultural ceremonies and involvement in community sports.

Theme: “Without the name, there is no place to begin”⁶: Diagnosis is a means to receive appropriate and tailored support

Six studies (Chamberlain et al., 2017; Doak et al., 2019; Duquette & Stodel, 2005; Hamilton et al., 2020; Temple et al., 2021; Watson et al., 2013) reported that adults with FASD and caregivers perceived the benefits of the diagnosis as a means to access appropriate support and services tailored to their own/their child's needs (GRADE CERQual confidence level: High). Adults with FASD reported that the diagnosis enabled application for financial and other therapeutic supports, such as disability plans and social services support (Temple et al., 2021). They also spoke of receiving support from family members, employers and other agencies, noting that interactions were now “different in a way that was better for their needs” (Temple et al., 2021, p. 6). For children and young people, caregivers described hopes that their children would now be able to receive more appropriate and individualized support from health professionals and other social services. For school-aged children, the diagnosis was important in promoting advocacy for and access to additional support within the education system, with some caregivers reporting that educators were more willing to listen to them and make accommodations after their child received a diagnosis (Doak et al., 2019; Duquette & Stodel, 2005). One caregiver of a child currently in youth detention had shared the diagnostic report with a service provider to plan for appropriate health and disability support upon their child's release (Hamilton et al., 2020).

Observable cultural differences in how caregivers envisioned their child's needs being met following the diagnosis were described by Hamilton et al. (2020), with non-Aboriginal Australian caregivers speaking of hope for more institutional assistance from schools and the healthcare system, and Aboriginal Australian caregivers anticipated their child's support needs would be met within the context of family and community.

Theme: “That's all I want for them, just to have a nice life”⁷: Aspirations and apprehensions about the future

In two studies (Chamberlain et al., 2017; Doak et al., 2019), caregivers described both aspirations and apprehensions for their child's future following the assessment (GRADE CERQual confidence level: Moderate). The diagnosis helped caregivers to acknowledge their child's capabilities, be more empathic and accepting of their child's behavior, and make accommodations to assist their child's success with everyday tasks and routines. With appropriate support from family, friends and services, caregivers expressed aspirations for a fulfilling life for their child. At the same time, caregivers expressed apprehension about their child's future, acknowledging uncertainties related to ongoing difficulties and complexities of secondary conditions. Some caregivers raised concerns about their child's physical safety, ability to learn at school, and future mental health (Doak et al., 2019). Others reported concerns about their child's future independent living skills and their own ability to care for their child in the long term (Chamberlain et al., 2017).

Theme: “Our struggle is finding a counsellor who knows enough about FASD to be able to help”⁸: Accessing supports and services

Across five studies (Chamberlain et al., 2017; Doak et al., 2019; Hamilton et al., 2020; Petrenko et al., 2014; Watson et al., 2013), caregivers described service- and family-level barriers to accessing support (GRADE CERQual confidence level: High). At the service level, there was a reported lack of local FASD-specific services and providers knowledgeable about FASD, and long waitlists for allied health services. In the context of the lack of local community services, some caregivers questioned the benefits of diagnosis (Chamberlain et al., 2017; Hamilton et al., 2020). In studies by Petrenko et al. (2014) in the United States and Watson et al. (2013) in Canada, caregivers reported difficulty qualifying for services postdiagnosis, because FASD was not classified as a developmental disability in local education systems and their child did not have a recognized intellectual disability (IQ < 70) or developmental disability (e.g., autism spectrum disorder). At the family level, barriers to accessing services included family and work commitments, financial strain, and family stress (Doak et al., 2019). Some caregivers described feeling stigmatized and isolated from their community, due to a lack of understanding by others about their child's behavior (Doak et al., 2019; Petrenko et al., 2014). This affected families' participation in social activities (e.g., play dates). Across all five studies, caregivers expressed hope and desire for FASD to be more widely recognized so that appropriate programs could be implemented to support individuals across the lifespan.

Despite numerous barriers, some caregivers did report accessing several helpful supports following diagnosis (Doak et al., 2019). These included an instructional book on prosocial behavior, a specialized unit at school, support from the school's guidance officer, medications to manage ADHD and sleep problems, occupational therapy, physical exercise regimens, in-home counseling, and interventions from a private psychologist. Importantly, caregivers identified benefits of accessing supports to assist them personally, particularly peer support groups and extended family support.