Individual center: Mental health in rare syndromic diseases
Mental illnesses can affect anyone. If they occur in people with a rare syndromic disease or an intellectual disability, a wide variety of problems have to be considered and solved at once. The psychological changes often also represent a challenge for the families and caregivers of those affected.
Diagnostic and clinical focus:
Our particular focus is on the treatment of patients suffering from a genetic syndrome:
- Prader-Willi syndrome (people with this condition form one of our largest patient groups),
- Down syndrome,
- Cornelia de Lange syndrome,
- Lesch-Nyhan syndrome,
- Smith-Magenis syndrome,
- Klinefelter syndrome
- and others.
Those affected often suffer from psychotic symptoms with hallucinations and delusions, and can be plagued by severe anxiety, sometimes resulting in aggressive behavior. However, depressive moods also represent a psychiatric problem area for these patients, whereby adequate treatment can improve their quality of life. In addition to the psychological problems mentioned, many patients also have physical problems, such as cardiac disease in patients with Down syndrome. Comprehensive healthcare of the same range, quality and standard as for people without intellectual disabilities is an important care goal, in accordance with the United Nations Convention on the Legal Rights of Persons with Disabilities.
Furthermore, it can be assumed that mental health problems are at least as common in rare syndromic diseases as in healthy people - experience shows that chronically ill people tend to have even higher incidence rates of mental illness. In addition, living with a rare syndromic disease usually requires adaptations that make normal life more difficult.
Research focus:
In addition to the epidemiological and phenomenological recording of psychiatric abnormalities in the context of rare syndromal diseases with mental retardation, the focus is on their characterization on a molecular biological (genomic, epigenomic, transcriptomic, proteomic and metabolomic), endocrinological, neurophysiological and brain structural level. On the one hand, there are already close links with the Institute of Pharmacology (focus: Lesch-Nyhan syndrome) and, on the other hand, the investigations into psychotic symptoms in PWS in particular fit in with the existing focus on disorders of brain development in the Laboratory of Molecular Neuroscience. There are very close collaborations within the MHH (Clinical Department of Neurosurgery, Experimental Neurosurgery), with the TiHo (Institute of Pharmacology) but also internationally with the INSERM Center for Psychiatry and Neurosciene, Paris Ste.-Anne, which enable translational research into the molecular basis of these disorders. The recording of psychiatric abnormalities in other rare diseases (with/without mental retardation) could easily be included here. There are also plans to investigate affected families and, if necessary, reverse phenotyping of variant carriers. Further intensive cooperation exists with the Clinical Department of Cardiology and Angiology, with which clinical studies on adults with congenital heart defects (including patients with Down syndrome) are already being carried out.
Competencies of the individual center:
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Diagnostics
Standardized psychiatric and behavioural diagnostics
Neuropsychological examination
The diagnostics also serve to precisely phenotype the patients.
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Pharmacotherapy and pharmacovigilance
Monitoring of effects and side effects in patients who require psychopharmacological intervention. The background to this is the lack of data on the treatment of typical psychiatric disorders in patients with rare syndromic diseases and patients with intellectual disabilities
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Behavioral medicine intervention
Many problems can be treated with behavioral therapy techniques, especially in patients with intellectual disabilities. Close links with the Training Institute for Behavioral Therapy and Behavioral Medicine (AVVM) at the MHH make it possible to provide behavioral medical care in line with indications.
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Care for relatives
Our services are aimed at adult patients; unfortunately, the treatment of children and adolescents is not possible at this center. In many cases, the counseling and care of relatives and employees from residential and workshop facilities will be of major importance. For this purpose, suitable psychoeducational offers (groups, self-help material, etc.) are to be developed and evaluated.
