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  1. Article ; Online: The disappearance of white matter in an adult-onset disease: a case report.

    Ho, Cyrus Sh / Mangelsdorf, Simone / Walterfang, Mark

    BMC psychiatry

    2020  Volume 20, Issue 1, Page(s) 137

    Abstract: Background: Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity.: Case presentation: We report a ... ...

    Abstract Background: Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity.
    Case presentation: We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive dystonia, ataxia, postural instability and recurrent falls. Magnetic resonance imaging (MRI) of the brain and genetic testing confirmed the diagnosis of VWMD.
    Conclusions: VWMD has a broad clinical presentation in adulthood, and the age at onset of symptoms is one of its most important prognostic factors. It is crucial to recognize the pathognomonic MRI patterns and consider VWMD as a differential diagnosis when assessing patients presenting with psychiatric, cognitive and non-specific neurological symptoms.
    MeSH term(s) Adult ; Brain/diagnostic imaging ; Female ; Humans ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Neuroimaging ; White Matter/diagnostic imaging ; White Matter/pathology
    Language English
    Publishing date 2020-03-27
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1471-244X
    ISSN (online) 1471-244X
    DOI 10.1186/s12888-020-02551-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Semantic language deficit developing following herpes simplex encephalitis: reorganization "cannibalising" language centers?

    Mangelsdorf, Simone / Kelso, Wendy / Velakoulis, Dennis / Walterfang, Mark

    Neurocase

    2018  Volume 24, Issue 1, Page(s) 72–75

    Abstract: Herpes simplex virus encephalitis (HSVE) commonly presents with severe amnesia due to virus-mediated destruction of key regions in the temporal lobes, although language and executive impairment has been described. Little is known however of the long-term ...

    Abstract Herpes simplex virus encephalitis (HSVE) commonly presents with severe amnesia due to virus-mediated destruction of key regions in the temporal lobes, although language and executive impairment has been described. Little is known however of the long-term cognitive changes in these patients, including changes that may happen with cortical reorganization. We describe a patient with HSVE who presented with a highly unusual late-onset language syndrome, which may reflect distal cortical changes after her original injury.
    MeSH term(s) Encephalitis, Herpes Simplex/complications ; Encephalitis, Herpes Simplex/diagnostic imaging ; Female ; Humans ; Language Disorders/diagnostic imaging ; Language Disorders/etiology ; Magnetic Resonance Imaging ; Middle Aged ; Neuropsychological Tests ; Semantics ; Tomography, Emission-Computed, Single-Photon ; Writing
    Language English
    Publishing date 2018-01-19
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1302651-3
    ISSN 1465-3656 ; 1355-4794
    ISSN (online) 1465-3656
    ISSN 1355-4794
    DOI 10.1080/13554794.2018.1428351
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    Zs.A 4412: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  3. Article ; Online: Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.

    Rego, Thomas / Farrand, Sarah / Goh, Anita M Y / Eratne, Dhamidhu / Kelso, Wendy / Mangelsdorf, Simone / Velakoulis, Dennis / Walterfang, Mark

    CNS drugs

    2019  Volume 33, Issue 2, Page(s) 125–142

    Abstract: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical ... ...

    Abstract Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical gaze palsy are a hallmark of the disease, and psychiatric symptoms such as psychosis and mood disorders are common. These latter symptoms often present early in the course of NPC and thus these patients are often diagnosed with a major psychotic or affective disorder before neurological and cognitive signs present and the diagnosis is revised. The commonalities and characteristics of psychotic symptoms in both NPC and schizophrenia may share neuronal pathways and mechanisms and provide potential targets for research in both disorders. The neurobiology of NPC and its relationship to the pattern of neuropsychiatric and cognitive symptoms is described in this review. A number of neurobiological models are proposed as mechanisms by which NPC causes psychiatric and cognitive symptoms, informed from models proposed in schizophrenia and other metabolic disorders. There are a number of symptomatic and illness-modifying treatments for NPC currently available. The current evidence is discussed; focussing on two medications which have shown promise, miglustat and hydroxypropyl-β-cyclodextrin.
    MeSH term(s) 1-Deoxynojirimycin/analogs & derivatives ; 1-Deoxynojirimycin/therapeutic use ; 2-Hydroxypropyl-beta-cyclodextrin/therapeutic use ; Animals ; Brain/physiopathology ; Cognitive Dysfunction/drug therapy ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/physiopathology ; Diagnosis, Differential ; GABAergic Neurons/physiology ; Humans ; Models, Neurological ; Neuronal Plasticity/physiology ; Niemann-Pick Disease, Type C/complications ; Niemann-Pick Disease, Type C/drug therapy ; Niemann-Pick Disease, Type C/physiopathology ; Psychotic Disorders/drug therapy ; Psychotic Disorders/etiology ; Psychotic Disorders/physiopathology
    Chemical Substances 1-Deoxynojirimycin (19130-96-2) ; 2-Hydroxypropyl-beta-cyclodextrin (1I96OHX6EK) ; miglustat (ADN3S497AZ)
    Language English
    Publishing date 2019-01-11
    Publishing country New Zealand
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1203800-3
    ISSN 1179-1934 ; 1172-7047
    ISSN (online) 1179-1934
    ISSN 1172-7047
    DOI 10.1007/s40263-018-0599-0
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    Zs.A 4083: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  4. Article ; Online: Deep brain stimulation for severe treatment-resistant obsessive-compulsive disorder: An open-label case series.

    Farrand, Sarah / Evans, Andrew H / Mangelsdorf, Simone / Loi, Samantha M / Mocellin, Ramon / Borham, Adam / Bevilacqua, JoAnne / Blair-West, Scott / Walterfang, Mark A / Bittar, Richard G / Velakoulis, Dennis

    The Australian and New Zealand journal of psychiatry

    2017  Volume 52, Issue 7, Page(s) 699–708

    Abstract: Objective: Deep brain stimulation can be of benefit in carefully selected patients with severe intractable obsessive-compulsive disorder. The aim of this paper is to describe the outcomes of the first seven deep brain stimulation procedures for ... ...

    Abstract Objective: Deep brain stimulation can be of benefit in carefully selected patients with severe intractable obsessive-compulsive disorder. The aim of this paper is to describe the outcomes of the first seven deep brain stimulation procedures for obsessive-compulsive disorder undertaken at the Neuropsychiatry Unit, Royal Melbourne Hospital. The primary objective was to assess the response to deep brain stimulation treatment utilising the Yale-Brown Obsessive Compulsive Scale as a measure of symptom severity. Secondary objectives include assessment of depression and anxiety, as well as socio-occupational functioning.
    Methods: Patients with severe obsessive-compulsive disorder were referred by their treating psychiatrist for assessment of their suitability for deep brain stimulation. Following successful application to the Psychosurgery Review Board, patients proceeded to have deep brain stimulation electrodes implanted in either bilateral nucleus accumbens or bed nucleus of stria terminalis. Clinical assessment and symptom rating scales were undertaken pre- and post-operatively at 6- to 8-week intervals. Rating scales used included the Yale-Brown Obsessive Compulsive Scale, Obsessive Compulsive Inventory, Depression Anxiety Stress Scale and Social and Occupational Functioning Assessment Scale.
    Results: Seven patients referred from four states across Australia underwent deep brain stimulation surgery and were followed for a mean of 31 months (range, 8-54 months). The sample included four females and three males, with a mean age of 46 years (range, 37-59 years) and mean duration of obsessive-compulsive disorder of 25 years (range, 15-38 years) at the time of surgery. The time from first assessment to surgery was on average 18 months. All patients showed improvement on symptom severity rating scales. Three patients showed a full response, defined as greater than 35% improvement in Yale-Brown Obsessive Compulsive Scale score, with the remaining showing responses between 7% and 20%.
    Conclusion: Deep brain stimulation was an effective treatment for obsessive-compulsive disorder in these highly selected patients. The extent of the response to deep brain stimulation varied between patients, as well as during the course of treatment for each patient. The results of this series are comparable with the literature, as well as having similar efficacy to ablative psychosurgery techniques such as capsulotomy and cingulotomy. Deep brain stimulation provides advantages over lesional psychosurgery but is more expensive and requires significant multidisciplinary input at all stages, pre- and post-operatively, ideally within a specialised tertiary clinical and/or academic centre. Ongoing research is required to better understand the neurobiological basis for obsessive-compulsive disorder and how this can be manipulated with deep brain stimulation to further improve the efficacy of this emerging treatment.
    MeSH term(s) Adult ; Deep Brain Stimulation/methods ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Nucleus Accumbens/surgery ; Obsessive-Compulsive Disorder/therapy ; Outcome Assessment, Health Care ; Septal Nuclei/surgery ; Severity of Illness Index
    Language English
    Publishing date 2017-09-30
    Publishing country England
    Document type Journal Article
    ZDB-ID 221140-3
    ISSN 1440-1614 ; 0004-8674
    ISSN (online) 1440-1614
    ISSN 0004-8674
    DOI 10.1177/0004867417731819
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 856: Show issues Location:
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  5. Article: Interdisziplinärer Therapieansatz für frühkindliche Essstörungen

    Kunde-Trommer, Jutta / Mangelsdorf, Simone / Rösch, Birgit

    Forum Logopädie

    2001  Volume 15, Issue 4, Page(s) 7

    Language German
    Document type Article
    ZDB-ID 1178748-x
    ISSN 0932-0547
    Database Current Contents Medicine

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    Zs.A 5008: Show issues Location:
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  6. Article: Interdisziplinärer Therapieansatz für frühkindliche Essstörungen

    Kunde-Trommer, Jutta / Mangelsdorf, Simone / Rösch, Birgit

    Forum Logopädie

    2001  Volume 15, Issue 4, Page(s) 7–11

    Abstract: Aufgrund der Erfahrungen bei der Arbeit in einem Kinderzentrum wird über Diagnose und Therapie bei frühkindlichen Fütter- bzw. Essstörungen berichtet. Zunächst werden die einzelnen diagnostischen Bausteine vorgestellt. Besonders eingegangen wird auf den ... ...

    Title translation Interdisciplinary treatment approach to early childhood eating disorders
    Abstract Aufgrund der Erfahrungen bei der Arbeit in einem Kinderzentrum wird über Diagnose und Therapie bei frühkindlichen Fütter- bzw. Essstörungen berichtet. Zunächst werden die einzelnen diagnostischen Bausteine vorgestellt. Besonders eingegangen wird auf den interdisziplinären Therapieansatz, der sich aus der engen Zusammenarbeit von Klinischer Psychologie, Logopädie und Pädiatrie ergibt: Ein Interaktionszentriertes Vorgehen kombiniert mit orofacialer Therapie. Ein Fallbeispiel soll die beschriebenen Elemente veranschaulichen.
    Keywords Child Psychotherapy ; Childrearing Practices ; Diagnosis ; Diagnostik ; Eating Behavior ; Eating Disorders ; Eltern-Kind-Beziehungen ; Erziehungspraktiken ; Essstörungen ; Essverhalten ; Interdisciplinary Treatment Approach ; Interdisziplinärer Behandlungsansatz ; Kinderpsychotherapie ; Parent Child Relations
    Language German
    Document type Article
    ZDB-ID 1178748-x
    ISSN 0932-0547
    ISSN 0932-0547
    Database PSYNDEX

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