Waltereit, Robert

[["dc.bibliographiccitation.artnumber","216"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Orphanet Journal of Rare Diseases"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Waltereit, Robert"],["dc.contributor.author","Beaure d’Augères, Guillaume"],["dc.contributor.author","Jancic, Jasna"],["dc.contributor.author","Kingswood, John C."],["dc.contributor.author","Koleva, Maya"],["dc.contributor.author","Marques, Ruben"],["dc.contributor.author","Villanueva, Vicente"],["dc.contributor.author","Auvin, Stéphane"],["dc.date.accessioned","2021-11-25T11:07:06Z"],["dc.date.accessioned","2022-08-18T12:37:40Z"],["dc.date.available","2021-11-25T11:07:06Z"],["dc.date.available","2022-08-18T12:37:40Z"],["dc.date.issued","2021-05-12"],["dc.date.updated","2022-07-29T12:17:43Z"],["dc.description.abstract","Abstract\r\n \r\n Background\r\n 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.\r\n\r\n \r\n \r\n Methods\r\n An electronic survey on current TSC and TAND management was conducted, targeting TSC caregivers/families, psychiatrists, neurologists, TSC specialists, and primary care physicians.\r\n\r\n \r\n \r\n Results\r\n 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.\r\n \r\n \r\n Conclusions\r\n 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."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2021"],["dc.identifier.citation","Orphanet Journal of Rare Diseases. 2021 May 12;16(1):216"],["dc.identifier.doi","10.1186/s13023-021-01800-w"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/93529"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112962"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.publisher","BioMed Central"],["dc.relation.eissn","1750-1172"],["dc.rights","CC BY 4.0"],["dc.rights.holder","The Author(s)"],["dc.subject","TAND"],["dc.subject","TAND checklist"],["dc.subject","TSC-associated neuropsychiatric disorders"],["dc.subject","Tuberous sclerosis complex"],["dc.title","Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","14"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Journal of Neurodevelopmental Disorders"],["dc.bibliographiccitation.volume","13"],["dc.contributor.author","Petrasek, Tomas"],["dc.contributor.author","Vojtechova, Iveta"],["dc.contributor.author","Klovrza, Ondrej"],["dc.contributor.author","Tuckova, Klara"],["dc.contributor.author","Vejmola, Cestmir"],["dc.contributor.author","Rak, Jakub"],["dc.contributor.author","Sulakova, Anna"],["dc.contributor.author","Kaping, Daniel"],["dc.contributor.author","Bernhardt, Nadine"],["dc.contributor.author","de Vries, Petrus J."],["dc.contributor.author","Otahal, Jakub"],["dc.contributor.author","Waltereit, Robert"],["dc.date.accessioned","2021-06-01T09:42:14Z"],["dc.date.accessioned","2022-08-18T12:30:09Z"],["dc.date.available","2021-06-01T09:42:14Z"],["dc.date.available","2022-08-18T12:30:09Z"],["dc.date.issued","2021-04-17"],["dc.date.updated","2022-07-29T11:24:34Z"],["dc.description.abstract","Abstract\r\n \r\n Background\r\n Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were reversed by mTOR inhibitors. However, phase II studies have not shown amelioration of ASD and cognitive deficits in individuals with TSC during mTOR inhibitor therapy. We asked here if developmental epilepsy, common in the majority of individuals with TSC but absent in most animal models, could explain the discrepancy.\r\n \r\n \r\n Methods\r\n At postnatal day P12, developmental status epilepticus (DSE) was induced in male Tsc2+/- (Eker) and wild-type rats, establishing four experimental groups including controls. In adult animals (n = 36), the behavior was assessed in the paradigms of social interaction test, elevated plus-maze, light-dark test, Y-maze, and novel object recognition. The testing was carried out before medication (T1), during a 2-week treatment with the mTOR inhibitor everolimus (T2) and after an 8-week washing-out (T3). Electroencephalographic (EEG) activity was recorded in a separate set of animals (n = 18).\r\n \r\n \r\n Results\r\n Both Tsc2+/- mutation and DSE caused social behavior deficits and epileptiform EEG abnormalities (T1). Everolimus led to a persistent improvement of the social deficit induced by Tsc2+/-, while deficits related to DSE did not respond to everolimus (T2, T3).\r\n \r\n \r\n Conclusions\r\n These findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors in clinical studies."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2021"],["dc.identifier.citation","Journal of Neurodevelopmental Disorders. 2021 Apr 17;13(1):14"],["dc.identifier.doi","10.1186/s11689-021-09357-2"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17759"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/85185"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112887"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.notes.intern","Merged from goescholar"],["dc.publisher","BioMed Central"],["dc.relation.eissn","1866-1955"],["dc.relation.issn","1866-1947"],["dc.rights","CC BY 4.0"],["dc.rights.holder","The Author(s)"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject","Tuberous sclerosis complex"],["dc.subject","TSC"],["dc.subject","Autism spectrum disorders"],["dc.subject","Developmental status epilepticus"],["dc.subject","mTOR"],["dc.subject","Everolimus"],["dc.title","mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]