Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study

Ebrahimi‐Fakhari, Daniel; Hussong, Justine; Flotats‐Bastardas, Marina; Ebrahimi‐Fakhari, Darius; Zemlin, Michael; Gontard, Alexander von; Meyer, Sascha

doi:10.1055/s-0039-1693042

Cited by 8 publications

(6 citation statements)

References 30 publications

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“…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 ].…”

Section: Discussionmentioning

confidence: 99%

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

Waltereit

d’Augères²,

Jančić

et al. 2021

Orphanet J Rare Dis

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Background Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90% of patients will have some form of TSC-associated neuropsychiatric disorder (TAND), there is an apparent lack of involvement of mental health professionals (MHPs) in the care of patients with TSC. The aim of this study was to determine the current level of TAND awareness in the TSC community and to identify possible barriers to effective multidisciplinary collaboration between MHPs and other healthcare providers (HCPs) in TAND management. Methods An electronic survey on current TSC and TAND management was conducted, targeting TSC caregivers/families, psychiatrists, neurologists, TSC specialists, and primary care physicians. Results The invitation to participate in the survey was emailed to 659 HCPs and was disseminated through social media channels of patient advocacy groups. The survey was open for 4 months, with 359 responses collected. The majority of participants were TSC caregivers/families (73.3% of all responses). Of the 96 HCPs who participated, most were neurologists (61.5%) or TSC specialists (28.1%). Only 6 psychiatrists and 4 primary care physicians participated. Approximately half of patients have never had a neuropsychiatric assessment, and it was their caregivers/families who initiated the discussion of TAND with their providers. Almost 70% of TSC caregivers/families believed that psychiatric treatment could improve their quality of life. However, 54% of patients had difficulty obtaining psychiatric assessment. In turn, only 21% of HCPs believed that psychiatric therapy would help and 74% were concerned that their patients would be stigmatized by psychiatric referral. Conclusions This study focused on European healthcare systems suggests that current care for mental health issues in patients with TSC is inadequate, despite guideline recommendations for regular neuropsychiatric assessments. This appears to be due to a combination of gaps in diagnosis and surveillance, low frequency of psychiatric referrals, insufficient resources, and stigmatization of mental healthcare. There is a pressing need for further initiatives to study and address the mechanisms underlying the mental health treatment gap. The importance of MHP support must be recognized to optimize TSC management.

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Section: Discussionmentioning

confidence: 99%

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

Waltereit

d’Augères²,

Jančić

et al. 2021

Orphanet J Rare Dis

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“…IQ measures included assessments such as the Bayley Scales of Infant Development, second edition [123] and the Wechsler Intelligence Scale for Children, third edition [124]. Since its publication in 2015, six cohort studies have utilised the TAND Checklist as an assessment measure [11,19,57,61,125,126]. Three of these six studies reported data from the TOSCA registry [11,19,57].…”

Section: Research Question 6: Which Research Methods and Research Mea...mentioning

confidence: 99%

The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

Vanclooster

Bissell

Eeghen

et al. 2022

J Neurodevelop Disord

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Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. Methods The study was conducted in accordance with stages outlined within the Arksey and O’Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. Results Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low–middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder–like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). Conclusions Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified.

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“…4,24 Despite this high rate, only 20% of TSC patients receive a diagnosis and treatment of their neuropsychiatric disorder, which is associated with higher parental stress. 4,24,25…”

Section: Total (N = 42)mentioning

confidence: 99%

Incontinence in persons with tuberous sclerosis complex

Clasen

Hussong

Wagner

et al. 2020

Neurourology and Urodynamics

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Aims Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by a mutation in the TSC1 or TSC2 gene with a broad spectrum of physical and psychological manifestations. The aim of the study was to examine incontinence, psychological problems, and adaptive behavior skills in patients with TSC. Methods Through a worldwide TSC support group, 26 children (4‐17 years) and 15 adults (18‐50 years) with TSC were recruited (38.1% male, mean age 16.4 years). Parents or care‐givers completed the Developmental Behavior Checklist (DBC), the Parental Questionnaire: Enuresis/urinary Incontinence, and the Vineland Adaptive Behavior Scales (3rd edition). Results A total of 60.0% of the participants had nocturnal enuresis (NE), 51.3% daytime urinary incontinence (DUI) and 52.4% fecal incontinence (FI). 65.4% of children and 50.0% of adults had a clinically relevant DBC score. Psychological symptoms were associated with at least one subtype of incontinence. The mean adaptive behavior composite (ABC) score of the patients was 57.2 (SD = 26.1), with 38.1% in the average or below‐average range (IQ >70), 26.2% with a mild, 11.9% with a moderate and 23.8% with a severe/profound intellectual disability. The incontinence rate was significantly higher in the groups with a lower ABC score. Conclusion A substantial proportion of patients with TSC are affected by incontinence and psychological symptoms. Incontinence was higher in persons with lower adaptive skills and those with at least one type of incontinence showed a significantly higher DBC score. As incontinence and psychological problems affect daily functioning and well‐being, assessment, and treatment are recommended.

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Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study

Cited by 8 publications

References 30 publications

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

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

The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review

Incontinence in persons with tuberous sclerosis complex

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