An examination of the neurocognitive profile and base rate of performance impairment in primary dystonia

Niccolai, Lindsay; Aita, Stephen L.; Walker, Harrison C.; Martin, Roy C.; Clay, Olivio J.; Crowe, Michael; Triebel, Kristen

doi:10.1016/j.jocn.2019.12.050

Cited by 11 publications

(13 citation statements)

References 23 publications

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“…Although our results clearly indicate executive dysfunction is a prominent feature among PwD, consistent with the literature, 9,12,13,26 we found motor processing speed was the most impaired domain. This finding is not surprising considering primary dystonia is a movement disorder, 1 although it is clinically important as many executive measures of executive functioning have a motor component.…”

Section: Discussionsupporting

confidence: 92%

“…6,7 Nonmotor symptoms such as depression, anxiety, fatigue, and cognitive impairment are also commonly observed. 6,[8][9][10][11][12][13][14] The pathophysiology of primary dystonia, while not completely understood, implicates basal ganglia dysfunction, specifically striatal control of the globus pallidus and substantia nigra and downstream effects of thalamic dysfunction. 3,15 Numerous studies have examined cognitive deficits in persons with primary dystonia (PwD) with considerable variation in both neuropsychological test batteries and dystonia subtypes (eg, generalized, cervical).…”

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confidence: 99%

“…Many cases have an underlying genetic basis, such as the DYT1 mutation on chromosome 9q34 6,7 . Nonmotor symptoms such as depression, anxiety, fatigue, and cognitive impairment are also commonly observed 6,8‐14 . The pathophysiology of primary dystonia, while not completely understood, implicates basal ganglia dysfunction, specifically striatal control of the globus pallidus and substantia nigra and downstream effects of thalamic dysfunction 3,15 …”

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confidence: 99%

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Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta‐Analysis

et al. 2022

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A BS TRACT: Background: Primary dystonia is conventionally considered as a motor disorder, though an emerging literature reports associated cognitive dysfunction.Objectives: Here, we conducted meta-analyses on studies comparing clinical measures of cognition in persons with primary dystonia and healthy controls (HCs). Methods: We searched PubMed, Embase, Cochrane Library, Scopus, and PsycINFO (January 2000-October 2020). Analyses were modeled under random effects. We used Hedge's g as a bias-corrected estimate of effect size, where negative values indicate lower performance in dystonia versus controls. Between-study heterogeneity and bias were primarily assessed with Cochran's Q, I 2 , and Egger's regression. Results: From 866 initial results, 20 studies met criteria for analysis (dystonia n = 739, controls n = 643; 254 effect sizes extracted). Meta-analysis showed a significant combined effect size of primary dystonia across all studies (g = À0.56, P < 0.001), with low heterogeneity (Q = 25.26, P = 0.15, I 2 = 24.78). Within-domain effects of primary dystonia were motor speed = À0.84, nonmotor speed = À0.83, global cognition = À0.65, language = À0.54, executive functioning = À0.53, learning/memory = À0.46, visuospatial/construction = À0.44, and simple/complex attention = À0.37 (P-values <0.01). High heterogeneity was observed in the motor/nonmotor speed and learning/memory domains. There was no evidence of publication bias. Moderator analyses were mostly negative but possibly underpowered. Blepharospasm samples showed worse performance than other focal/cervical dystonias. Those with inherited (ie, genetic) disease etiology demonstrated worse performance than acquired. Conclusions: Dystonia patients consistently demonstrated lower performances on neuropsychological tests versus HCs. Effect sizes were generally moderate in strength, clustering around À0.50 SD units. Within the speed domain, results suggested cognitive slowing beyond effects from motor symptoms. Overall, findings indicate dystonia patients experience multidomain cognitive difficulties, as detected by neuropsychological tests.

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Section: Discussionsupporting

confidence: 92%

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confidence: 99%

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confidence: 99%

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Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta‐Analysis

et al. 2022

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“…In comparison with psychiatric symptoms, results from cognitive studies have been less consistent with suggestion that greater heterogeneity is observed between types of dystonia [17, 43•, 44]. Multiple crosssectional studies exemplify this variation with some finding no difference in questionnaire-derived measures of impulsiveness (p = 0.65), overall cognition (Montreal cognitive assessment, p = 0.14), and executive function (p = 0.42) between AOIFCD and controls [45], while others examining a broader clinical group of primary dystonias found significantly poorer performance across multiple measures including global cognitive function (p < 0.001), attention (p < 0.001), memory (p < 0.001), and conceptualisation (p = 0.001), compared to unaffected controls [46]. Others, even when examining multiple cognitive domains (e.g.…”

Section: Cognitive Symptomsmentioning

confidence: 93%

Cognitive and Neuropsychiatric Impairment in Dystonia

Bailey

Martín

Peall

2022

Curr Neurol Neurosci Rep

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Purpose of Review To review recent literature evaluating psychiatric and cognitive symptoms in dystonia, the two non-motor symptom groups most frequently evaluated in dystonia research and recognised in clinical practice. Recent Findings Recent work has embedded clinical recognition of psychiatric symptoms in dystonia, with depressive and anxiety-related symptoms routinely observed to be the most common. Less explored symptoms, such as self-harm, suicidal ideation, and substance abuse, represent newer areas of investigation, with initial work suggesting higher rates than the background population. Investigation of cognitive function has provided less consistent results, both within individual dystonia subtypes and across the spectrum of dystonias, partly reflecting the heterogeneity in approaches to assessment. However, recent work indicates impairments of higher cognitive function, e.g. social cognition, and disrupted visual and auditory sensory processing. Summary Dystonia demonstrates psychiatric and cognitive symptom heterogeneity, with further work needed to recognise endophenotypes and improve diagnostic accuracy, symptom recognition, and management.

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“…Regarding the non-motor manifestations of dystonia, patients of primary dystonia had deficits on a broad range of cognitive domains including global cognitive function, attention, memory and conceptualization ( 75 ). In more detail, dystonia patients presented cognitive impairments related to the executive dysfunctions such as set-shifting, category fluency and verbal learning, and impaired time-based prospective memory was also found in patients of cervical dystonia, reflecting the potential dysfunctions in the prefrontal cortex and basal ganglia ( 76 , 77 ).…”

Section: Potential Mechanisms Underlying Ppn Pathology On the Develop...mentioning

confidence: 99%

Dystonia and the pedunculopontine nucleus: Current evidences and potential mechanisms

et al. 2022

Front. Neurol.

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Being a major component of the midbrain locomotion region, the pedunculopontine nucleus (PPN) is known to have various connections with the basal ganglia, the cerebral cortex, thalamus, and motor regions of the brainstem and spinal cord. Functionally, the PPN is associated with muscle tone control and locomotion modulation, including motor initiation, rhythm and speed. In addition to its motor functions, the PPN also contribute to level of arousal, attention, memory and learning. Recent studies have revealed neuropathologic deficits in the PPN in both patients and animal models of dystonia, and deep brain stimulation of the PPN also showed alleviation of axial dystonia in patients of Parkinson's disease. These findings indicate that the PPN might play an important role in the development of dystonia. Moreover, with increasing preclinical evidences showed presence of dystonia-like behaviors, muscle tone changes, impaired cognitive functions and sleep following lesion or neuromodulation of the PPN, it is assumed that the pathological changes of the PPN might contribute to both motor and non-motor manifestations of dystonia. In this review, we aim to summarize the involvement of the PPN in dystonia based on the current preclinical and clinical evidences. Moreover, potential mechanisms for its contributions to the manifestation of dystonia is also discussed base on the dystonia-related basal ganglia-cerebello-thalamo-cortical circuit, providing fundamental insight into the targeting of the PPN for the treatment of dystonia in the future.

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An examination of the neurocognitive profile and base rate of performance impairment in primary dystonia

Cited by 11 publications

References 23 publications

Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta‐Analysis

Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta‐Analysis

Cognitive and Neuropsychiatric Impairment in Dystonia

Dystonia and the pedunculopontine nucleus: Current evidences and potential mechanisms

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