Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey

Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder that is estimated to affect 1 in 10,000 live births [1, 2]. TSC is characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs, with a variable clinical presentation depending on the affected organ systems [3, 4]. Neurological manifestations frequently include epilepsy caused by focal malformations during cortical development [5].

In addition to the physical manifestations caused by dysregulated growth control, patients with TSC are also often affected by a spectrum of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties [5]. TSC-associated neuropsychiatric disorders (TAND) was the term coined by the Tuberous Sclerosis Complex Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference to encompass these difficulties experienced by patients with TSC [3, 6, 7].

Clinical guidelines for the assessment of these neuropsychiatric disorders were initially published by the TSC Brain/Behaviour Consensus Panel in 2005 [8]. Healthcare providers (HCPs) from around the world with expertise in managing TSC convened in June 2012 to update the existing guidelines for the diagnosis, surveillance, and management of TSC. The consensus that was reached as a result of the work before, during, and after that conference was published in the October 2013 edition of Pediatric Neurology [1, 6].

The TAND checklist is a clinical tool that can be used to identify neuropsychiatric areas that require further evaluation or treatment [3, 5, 9]. The checklist was developed by the Tuberous Sclerosis Complex Neuropsychiatry Panel to provide a simple framework for a conversation between the clinician and the family or individual with TSC regarding TAND [3, 10].

Current guidelines [6, 8] recommend regular assessments of cognitive development and behaviors in patients with TSC to establish a baseline for evaluating any changes in developmental trajectory. However, a survey conducted among members of the UK Tuberous Sclerosis Association in 2010 showed that only 18% of all families received any of the evaluations recommended in the 2005 guidelines [3]. Given that more than 90% of patients with TSC are likely to have some neuropsychiatric problems in their lifetime, the gap between the clinical need and services provided is in excess of 70% [3, 10]. This difference reflects the global findings of treatment gaps in mental health, where an estimated 70–80% of individuals with psychiatric disorders do not receive treatment [3, 11].

Mental health professionals (MHPs) involved in the treatment of TAND include psychiatrists, clinical psychologists, speech and language therapists, occupational therapists, and many others. Some of these professions have additional sub-specializations for child and adolescent patients versus adult patients. A consultant psychiatrist often leads the multidisciplinary team of MHPs and acts as the group’s liaison with other HCPs [12, 13]. Therefore, psychiatrists are well acquainted with issues related to healthcare resources and the stigmatization of mental disorders. For the purposes of this study, we chose to focus on psychiatrists to represent the mental health multidisciplinary team and did not distinguish between child and adolescent psychiatrists versus general psychiatrists.

In a meeting of an international panel of TSC experts in Europe in 2019, five hypotheses were proposed to account for the gap in mental health treatment in TSC (Table 1). Here, we report the outcomes of an online survey that was formulated and conducted to explore these hypotheses, to determine whether there is a lack of involvement of MHPs in the treatment of TAND, and to identify any barriers to MHP engagement in TSC screening, diagnosis, and treatment.

This online survey targeting the European TSC community was the first one to study the role and involvement of MHPs in the treatment of TAND. It demonstrates the substantial lack of awareness of TAND among both HCPs and TSC caregivers/families. The results of this study support the main hypothesis raised by the EXPERT Steering Committee, which was that the gap in mental health treatment for TSC is a result of low involvement among MHPs in the management of patients with TSC. In the following, we will discuss our main findings before analyzing them in perspective against the initial five hypotheses.

Despite the efforts to reach as many individuals involved in the care of patients with TSC as possible with this survey, there was a low response rate from HCPs in general. Most HCP respondents were either neurologists or TSC specialists; only six psychiatrists and four HCPs with limited experience of TSC participated in the survey. This observation could reflect the lack of exposure to, and experience with, TSC, given that it is a rare disease entity with highly variable physical and neuropsychiatric manifestations. Despite these numbers, we were able to solicit responses from HCPs from 25 different countries owing to the electronic format of the survey.

A relatively large number of responses were received from TSC caregivers/families. To target this group, the survey link was disseminated through social media platforms. Recent studies on patient recruitment strategies for studies of rare diseases show that online advertising through social media channels is an effective user-targeted recruitment tool [14‐16]. Our survey was able to reach a substantial number of TSC caregivers/families from 23 different countries through these platforms, in line with the results from patient engagement initiatives of other groups.

The low number of patients who have received neuropsychiatric assessment confirms the findings of a previous study from the United Kingdom [3] that there is large gap in the neuropsychiatric assessment and treatment of patients with TSC throughout Europe. Lack of awareness of TAND and the TAND checklist among HCPs were found to be important factors contributing to this treatment gap in the care of patients with TSC [17].

One possible reason for the low involvement of MHPs in the management of TSC and TAND could be a lack of resources in psychiatry, which was cited by HCPs as one of the top three barriers to effective multidisciplinary collaboration. Of the six psychiatrists who participated in our survey, only three of them believed that there were enough psychiatric resources in the centers where they practice. However, given these low numbers, these insights can only be counted as personal opinions. According to World Health Organization (WHO) data, the WHO European region has the largest mental health workforce, with 50 mental health workers available per 100,000 population. However, this number includes psychiatrists, nurses, social workers, and speech therapists [18]; the median number of psychiatrists and child psychiatrists in the European Union is much lower, at 10 per 100,000 population [19], with considerable variation among the different European countries [18]. Nevertheless, a general lack of resources in Europe does not appear to be the primary reason for low psychiatrist engagement. However, the psychiatrists’ general impression that TSC patients were more “difficult to manage” than those with idiopathic mental disorders may produce a “relative” lack of resources in the sense of having fewer psychiatrists who are willing to handle TSC patients.

The strikingly low proportion of psychiatrists who participated in our survey could partly be due to a limitation of psychiatric resources, as mentioned previously. Limited availability could result in the reluctance of psychiatrists to actively enroll patients with TSC into their treatment facilities, given that patients with TSC are usually more complex and difficult to treat than most psychiatric patients without a multisystem genetic syndrome. The comorbidity of neurologic and physical diseases could discourage psychiatrists in accepting referrals of TSC patients, further contributing to the knowledge gap with regard to TAND. This interpretation is in line with the historical treatment gap in psychiatry for patients with intellectual disability, which is also common in TSC patients [20]. The combination of these factors may account for the low involvement of psychiatrists in the care of TSC patients. However, these findings warrant further exploration because our study elicited very few responses from psychiatrists, despite our extensive efforts to include a large sample of psychiatrists in the survey.

The stigma surrounding mental health disorders is another possible barrier to the engagement of psychiatric services in the care of TSC patients [21]. Sixty-three percent of physicians thought that patients or their family members often or sometimes felt stigmatized when referred to psychiatry. However, the majority (70.7%) of TSC caregivers/families did not feel more negative after being referred to a psychiatrist than when they were referred for other healthcare assessments. As with other mental health disorders, there appears to be a need for anti-stigma campaigns involving both HCPs and patients’ families to establish accessible and effective mental health services for patients with TSC [18, 21].

Most of the specialists who work in TSC clinics only sometimes, or even rarely, refer their patients to psychiatry for co-management, whereas two of the four HCPs with limited TSC experience regularly refer their patients to psychiatry. These findings could highlight a need for the adequate training of HCPs in the identification of patients who require psychiatric referral, especially for HCPs in the primary care system, which is often the first point of access for most people with mental health problems [21].

Recently, the TANDem research consortium (https://​tandconsortium.​org), a working group of international TAND experts, has started such an approach with a specific working program. The focus is not on the direct improvement of structures in healthcare systems, but rather on empowering families of TSC patients by: (1) developing a self-completion, quantified TAND checklist, which is built into a smartphone application; (2) generating consensus guidelines for the treatment of TAND, which are built into the TAND smartphone application; and (3) engaging in a range of networking activities to help empower broader communities with the knowledge and tools to better understand TAND [22].

Another approach could be development of an improved strategy for multidisciplinary teams in the treatment of TSC, with well-defined roles for each member of the team, which would likely improve the care of patients with TAND [6]. Ideally, one main provider would lead the team and be responsible for areas or issues that fall outside the specific obligations and responsibilities of other team members. A guidelines-based approach in the overall management would ensure that care is optimized throughout the key developmental stages in the patient’s life, and that regular and timely neuropsychiatric assessments are performed with the help of the TAND checklist [6]. Once a patient is referred to psychiatry or MHPs in general, it would be essential to build a relationship of trust between the patient and the psychiatrist or MHP to maximize the potential for positive results.

The main limitation of our study is the small sample size of 359 respondents—over 70% of whom were TSC caregivers/families. There were only six psychiatrists and four HCPs with limited experience with TSC who participated in the survey, so particular care must be taken when interpreting answers to questions that were specifically designed to gain insight into the views of these two particular groups. Although the results of this survey serve to highlight the general lack of awareness around TAND and the role and involvement of MHPs in the care of TSC patients, they also highlight that we currently know very little about the complex reasons and mechanisms underlying the TAND treatment gap. Another limitation is the heterogeneous definition of HCP specialty groups across different European countries, particularly the distinction between neurology and neuropsychiatry. Clinical neuropsychiatry is presently only regulated in three European countries [23], while training models in other European countries overlap with neurology and neuropsychology [24]. We sent the survey invitation to a list of prior attendees of a TSC convention for neurologists and neuropsychiatrists, and we were unable to report the numbers separately for each group based on the limited information that we received. Because the survey questionnaires were developed with four main HCP groups in mind (neurologists, psychiatrists, TSC specialists, HCPs with limited experience with TSC), we could only assume that neuropsychiatrists who responded to the survey used the questionnaire for neurologists. Finally, the survey could only investigate some aspects of our five hypotheses. Further research is necessary to study these mechanisms in more detail, with a focus on resources, multidisciplinary interaction, knowledge gaps, and stigmatization of mental disorders. In particular, our study highlights that it appears indispensable to investigate not only the views of patients, families, and caregivers, but also the views of psychiatrists and other MHPs about the treatment of TAND.

This online survey confirms that there is a gap in awareness of TAND among TSC caregivers/families and HCPs alike. Consequently, the need for psychiatric and other MHP support appears to be often overlooked, as demonstrated by the minimal involvement of MHPs in the screening and long-term care of patients with TSC. Given that TSC is commonly diagnosed during childhood, TAND can have a significant impact on the patient’s developmental milestones and overall family dynamic. There is a need to raise awareness regarding TAND; to foster improvement of resources, professional knowledge, multidisciplinary interaction, and anti-stigmatization among HCPs regarding mental healthcare support to optimize the care of patients with TSC. In particular, more research, including that which considers the views of psychiatrists and other MHPs, is required to better understand the mechanisms underlying the TAND treatment gap.