The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementia comprises a group of devastating, predominantly neurodegenerative conditions, characterised by global and progressive neurocognitive decline, relative loss of developmental skills, as well as a shortened life expectancy in infants, children, and adolescents [1]. Whilst individually rare, surveillance studies have reported incidence rates between 10 and 60 per 100,000 births [2‐4] which is on par with other well-recognised conditions such as cystic fibrosis (1 in 3139 births) [5, 6]. Noting that there are differences in population, terminology, definition and grouping of disorders in these studies. Examples of conditions that consistently fit the definition of childhood dementia include Batten disease, Sanfilippo syndrome, Niemann–Pick disease types A and C, Tay-Sachs disease, metachromatic leukodystrophy, and some mitochondrial disorders, amongst others [7‐10]. While global neurocognitive decline is a core deficit, each individual childhood dementia-causing disorder is clinically heterogeneous, with variable patterns of disease progression that affects every aspect of adaptive function [9‐11]. Pathways to identify causes for this clinically severe group of conditions are complex [12]. Treatment options are limited for this group of rare diseases resulting in a severely shortened life expectancy ranging from infancy (e.g. Gaucher disease type 2 and nonketotic hyperglycinemia glycine encephalopathy) [13, 14], to ~ 50 years of age (e.g. Rett syndrome)[15]. It has been estimated that 75% of children with dementia die before the age of 18 [16]. While extensive progress has been made in understanding the underlying pathophysiology for individually rare childhood dementia conditions, with a growing number of genetic causes still being discovered, scientific advancements have yet to translate into accessible healthcare services and psychosocial supports for affected families [11, 17, 18].

Often, children will demonstrate typical development, then decelerate their progress, with substantial regression and global deterioration [19]. In other cases, syndromes can be so severe that the impact on neurodevelopment and associated neurocognitive decline begins from a low baseline of development, resulting in the prevention of the attainment of developmental skills [20‐22]. Although symptomatology can vary across disorder groups, children commonly develop a spectrum of co-existing and progressive symptoms related to the primary disease mechanism that impact cognitive, behavioral, and physical domains, including organ systems associated with their dementia condition [11, 23]. Childhood dementia shares several hallmark features akin to adult dementia, including: decline in cognitive ability, memory loss, wandering and restlessness, emotional difficulties (e.g. anxiety, fear, panic attacks), personality and behavioral changes (e.g. aggression, irritability, hyperactivity)[19]. Moreover, children with childhood dementias suffer severe sleep disturbances, movement disorders (e.g. muscle spasms, tremors), deterioration of communication skills, loss of vision and hearing, mood disorders, psychosis (including hallucinations and delusions) and incontinence [11]. Childhood dementia conditions are also severely life-limiting and life-threatening; causes of death include respiratory complications (e.g. pneumonia), neurological complications (e.g. intractable epilepsy), or cardiac events [16]. Throughout the course of the illness acute global brain dysfunction including delirium, encephalopathy are common and towards the end of life prolonged periods of stupor and coma [1, 7, 24].

Given the non-specific initial presenting symptoms, the rarity of the individual conditions, and associated limited natural history data, diagnosis of a childhood dementia condition is typically delayed, sometimes for years after the first symptoms appear [12, 25]. Children are commonly misdiagnosed with autism, developmental or intellectual delay [25] and families can face a ‘diagnostic odyssey’ in the search for a diagnosis for their child. Research in other rare disease groups has demonstrated that delayed and prolonged diagnoses, lack of treatment options and chronically unmet needs negatively impact parents’ physical and psychological wellbeing [26‐30]. There has been an increasing focus on interdisciplinary collaboration and cross-pollination of knowledge to enhance healthcare services, including diagnostics and therapeutic advancements for individuals living with rare diseases [18, 31]. Emerging from this climate, the Childhood Dementia Initiative was launched in Australia in 2020 with the purpose to transform research, care and quality of life for children with dementia by: bringing together the many individual ‘siloed’ conditions; focusing on the commonalities of childhood dementia; fostering diverse but complementary approaches; driving collective progress.

Psychosocial research specifically considering the collective healthcare experiences and psychosocial impacts of childhood dementia conditions on parents is currently lacking. This lack of evidence represents a significant obstacle for clinicians, patients, and their families and has delayed the development of a multidisciplinary healthcare approach and evidence-based psychosocial supports [32, 33]. Psychosocial research is important to facilitate better understanding of the unique caregiving demands placed on parents and to explore how parents respond to and cope with the challenges of their child’s rare disease. This review will contribute to the knowledge base to inform coordinated healthcare and community supports and the development of evidence-based psychosocial resources to address the unmet needs of parents.

Our review focused on three research questions:

We structured the review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines [34]. We searched the PROSPERO database [35] prior to commencing this review and published a protocol for this review (CRD42021291858).

We identified 19 eligible articles, including 7 qualitative [47‐53] and 12 quantitative studies [54‐65] representing the perspectives of 1856 parents of children across 21 different dementia-causing conditions. The mean quality score for the quantitative studies was 0.91 and the mean quality core of the qualitative studies was 0.94 (see Additional file 1: Table S1). We excluded one article that did not provide sufficient detail of the study methodological rigour to be included in this review. These studies stemmed from 11 countries: the USA [48, 50, 52, 55, 61, 63, 64], Canada [47, 57], Germany [58, 62], Australia [65], Ireland [49], Japan [60], Poland [54], Spain [53], Sweden [51], the Netherlands [59], and the United Kingdom [56]. Several studies ascertained data from international populations using online platforms (e.g. rare disease advocacy websites) to maximise recruitment. Of the 19 studies, 15 were cross-sectional [47, 48, 50‐52, 54‐62, 64], 3 were longitudinal [49, 63, 65], and one study comprised a multi-perspective cohort [53]. Table 1 lists the dementia causing conditions examined in each included study. Sixteen studies examined the perspectives of both mothers and fathers [47, 48, 50‐53, 56‐60, 62‐66], three studies did not specify parents’ gender [49, 54, 55] and one study included only mothers [61]. There was large variance in sample size within the included studies ranging from N = 8 [51] to N = 727 participants [63]. Twelve included more than 20 participants [48, 50, 52‐54, 56‐62], while four studies included more than 50 participants [55, 63‐65]. In line with our review questions, we extracted the results from the articles into three thematic categories focusing on [1] parents’ healthcare experiences; [2] psychosocial impacts; and [3] information and support needs (Fig. 2). A summary of the results of each study can be found in Tables 1 and 2.

Despite emerging knowledge of individually rare childhood dementia conditions, the collective psychosocial impacts of childhood dementias remain under-explored. This is the first systematic review to comprehensively integrate current international evidence documenting the healthcare experiences, psychosocial impacts and unmet information and support needs shared by parents of children with dementia. We identified 3 key overarching themes from 19 studies (Fig. 2). Firstly, parents experience a range of challenges navigating quality health and social care for their child owing to the rare, life-limiting, and progressive nature of their child’s dementia condition [49, 52, 58]. Difficulties accessing clinical teams equipped to provide early and coordinated care for their child’s complex progressive condition, compounded by a deficit of condition-specific information, impart a high physical and mental toll on parents [53, 56]. Secondly, psychosocial challenges are manifold and encompass physical, economic, social, emotional and psychological implications, which frequently precipitate prolonged grief and impaired quality of life among parents [54, 62, 63, 65]. Thirdly, our review identified priority areas that can be targeted with future interventions to protect and promote parents’ psychosocial wellbeing during key stages along the trajectory of their child’s condition (Fig. 3). These priority areas include providing additional evidence-based and integrated psychosocial support to parents during; (1) their child’s diagnostic phase; (2) periods of transition between different healthcare or community care settings; and (3) the advanced stages of the disease, when children lose key skills, such as language or mobility [56, 67].

Our first objective was to investigate parents’ healthcare experiences managing their child’s condition. The most prevalent obstacle that presented across the studies was achieving a diagnosis for their child and connecting with clinical teams who could provide honest and comprehensive information and counselling support about the uncertainty and potential severity of their child’s condition [62]. Persistent barriers accessing information and therapeutic interventions to reduce the acceleration of their child’s progressive neurocognitive decline and deteriorating function cultivated significant grief and frustration among parents, who felt powerless without a clinical team to support them [49]. Our findings extend on emerging rare disease research highlighting that early engagement with coordinated healthcare teams that are equipped to communicate appropriately with families during the “diagnostic odyssey” and to advocate for the child’s progressive healthcare needs, may have a substantial positive impact on parents’ psychosocial wellbeing, and their capacity to care for their child [49, 51, 62, 70]. Importantly, our review identified that the cumulative uncertainties and chronic traumatic stress endured by parents are exacerbated by concurrent progressive global deteriorating function [49, 51, 52] and the fear of their child’s imminent death [48, 51, 55]. Global clinical guidelines highlight the importance of adopting a trauma-informed approaches to care and support families affected by progressive and severely life-limiting disease, including providing timely referrals to paediatric palliative care services [71, 72]. Earlier access to paediatric palliative care services with can improve a child and family’s quality of life through the provision of holistic care and gently introducing conversations about end of life throughout the various phases of a child’s condition [73, 74]. Our findings support that providing early and appropriate integrated care, considering the specific needs of the families and involving both generalist and subspecialist paediatric palliative care teams may improve parents’ preparedness for end of life [51, 53, 56, 58].

A second key finding was that complex childhood dementia phenotypes had wide-ranging psychosocial impacts on parents’ physical, emotional, social, psychological and economic wellbeing [51‐54, 60]. Analysis revealed multiple domains of unmet need that impact child and parent quality of life, including neurocognitive regression, loss of communication skills, downstream cognitive-behavioral challenges, sleep disturbances, uncooperative behaviors, as well as progressive physical impairments including pain and mobility [52]. Our findings extend on global research demonstrating that rare diseases and childhood dementias impose significant economic costs far surpassing some of the costliest chronic diseases, to individual households and the broader health systems [75, 76]. Regarding psychological impacts, often, the early age of onset, and the rate of insidious decline in their child’s neurocognitive capacity hastens the demand on parent emotional and psychological adaption, resulting in intensifying psychological isolation and sequalae [77, 78]. Interestingly, although disease severity was shown to predict parents’ psychological wellbeing [55], expressions of parent resilience associated with adaptive coping strategies were highlighted across several studies, [49, 51, 58], regardless of the severity of their child’s condition [52, 64]. Our findings draw parallels with burgeoning research emphasizing the importance of accessible psychosocial resources to promote coping as more reliable predictors for parent quality of life than disease-specific factors [79, 80]. Additionally, our results lend support to national guidelines recommending the application of individually tailored applied behavioural analysis therapy as an intervention to support managing the neurobehavioral aspects of certain childhood dementia conditions [72]. Our finding that parents' psychosocial needs progress during distinct stages of their child’s condition trajectory align with broader conceptual frameworks, which attest that early and integrated healthcare and psychosocial supports are required to support parents’ evolving needs throughout the child’s lifetime [81]. Given the extensive and wide-ranging demands associated with parenting a child with dementia elicited through this research synthesis, integrated family-centred and trauma-informed psychosocial resources tailored to leverage parents’ adaptive coping skills are likely to be important empowerment tools for parents to alleviate psychological and social isolation [78, 82].

Importantly, while unprecedented progress has been achieved in understanding the cellular pathogenesis of many individually rare childhood dementia causing conditions, efficacious treatments are unavailable for the majority [83]. Currently, there are over 70 genetic disorders known to cause childhood dementia [16] and many of these conditions are detected late, adding to the high level of suffering endured by patients and their families [62]. For parents of children with rare diseases, clinical trials are often their only hope to benefit from the pipeline of therapeutic developments [84] and our review emphasized parents’ pressing desire for as broad as possible access to clinical trials and to subsequently approved therapies [52]. Further, our results highlight paediatric clinical trials targeting reduction in the rate of decline of clinical features (e.g. deteriorating motor function and mobility) offers a source of intervention that can complement pharmaceutical approaches and improve parent quality of life outcomes [52]. Collaboration and knowledge sharing achieved through rare disease initiatives has been shown to improve the quality of patient care and is of benefit to researchers, clinicians, and families alike, in considering appropriate referral pathways for available clinical trials and therapeutic interventions [85, 86]. Establishing an integrated and interdisciplinary center of expertise with a wide periphery of clinician involvement may be a strategic approach to assist parents and clinicians in several ways. First, it would facilitate information flow to circumvent the obstacles parents and clinicians face in accessing information, and clinical trials [87]. Secondly, the center could prove advantageous for connecting families to appropriate community-based services, to alleviate social and psychological isolation and to empower families to cope with the uncertainty of their child’s rare and progressive condition [48]. Thirdly, a centralized and interdisciplinary center of expertise engaging informed decision-makers, parents, and clinician researchers would provide a sustainable platform that is conductive to social influence to drive awareness and advocacy to address the shared unmet needs of children and families [88, 89].

Parents’ health and social care experiences are characterised their child’s rare, life-limiting and progressively impairing childhood dementia specific complexities. Our review demonstrated that parents share a tranche of overlapping challenges, especially related to the psychiatric and behavioral impacts of their child’s cognitive regression and the perpetuating psychosocial challenges that result. Nonetheless, many parents employed adaptive coping strategies and demonstrated significant resilience. Findings highlight the need for early access to coordinated healthcare services and trauma-informed integrated psychosocial supports to alleviate parent psychological distress. The unifying focus on the collective lived experiences of parents underscores the urgent need to increase awareness of the impact of childhood dementias among all stakeholders, to drive investment, integrated services, and interventional research.