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Psychiatry AND Tardive dyskinesia [keywords]
- Progressive supranuclear palsy finally has a clinically measureable τ abnormality. [EDITORIAL]
- J Neurol Neurosurg Psychiatry 2014 Jul 21.
- Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. [JOURNAL ARTICLE]
- Ann Neurol 2014 Jul 14.
Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) Exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. Methods: Twelve independent pedigrees (14 boys, ages 4 to 19) with mutations in NHE6 were administered standardized research assessments and mutations were characterized. Results: The mutational spectrum was composed of 9 single nucleotide variants (SNVs), 2 indels and 1 CNV deletion. All mutations were protein-truncating or splicing mutations. We identified two recurrent mutations (c.1498 c>t, p.R500X; and c.1710 g>a, p.W570X). Otherwise, all mutations were unique. In our study, seven of 12 mutations (58%) were de novo, in contrast to prior literature wherein mutations were largely inherited. We also report prominent neurological, medical and behavioral symptoms. All CS participants were non-verbal and had intellectual disability, epilepsy and ataxia. Many had prior diagnoses of autism and/or Angelman syndrome. Other neurologic symptoms included eye movement abnormalities (79%), postnatal microcephaly (92%) and MRI evidence of cerebellar atrophy (33%). Regression was noted in 50%, with recurrent presentations involving loss of words and/or the ability to walk. Medical symptoms, particularly gastrointestinal symptoms, were common. Height and body mass index measures were below normal ranges in most participants. Behavioral symptoms included hyperkinetic behavior (100%) and a majority exhibited high pain threshold. Interpretation: This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy and regression. ANN NEUROL 2014. © 2014 American Neurological Association.
- Impulsive and Compulsive Behaviors in Parkinson Study Group (PSG) Centers Performing Deep Brain Stimulation Surgery. [JOURNAL ARTICLE]
- J Parkinsons Dis 2014 Jul 17.
Background: Impulse control disorders (ICDs), dopamine dysregulation syndrome (DDS), and dopamine agonist withdrawal syndrome (DAWS) have been reported commonly in Parkinson's disease (PD) populations. The treatment approaches may be widely variable and there is not much information on these syndromes in the setting of deep brain stimulation (DBS). Objective: To evaluate (1) ICDs, DAWS and DDS pre- and post DBS in PD and (2) to investigate pre-DBS treatment strategies regarding these behaviors among Parkinson Study Group (PSG) centers. Methods: Forty-eight PSG centers were surveyed on ICDs, DAWS and DDS, as well as on potential relationships to DBS and treatment approaches. Results: Sixty-seven percent of PSG centers reported that they served a population of over 500 PD patients per year, and 94% of centers performed DBS surgery. Most centers (92%) reported screening for ICDs, DAWS and DDS. Of the centers screening for these symptoms, 13% reported always employing a formal battery of pre-operative tests, 46% of sites inconsistently used a formal battery, while 23% of sites reported never using a formal battery to screen for these symptoms. The estimated numbers of centers observing ICDs, DAWS and DDS pre-operatively in individuals with PD were 71%, 69%, and 69%, respectively. PSG DBS centers observing at least one case of a new de novo occurrence of an ICD, DAWS or DDS after DBS surgery were 67%, 65% and 65%, respectively. Conclusions: The results suggest that addiction-like syndromes and withdrawal syndromes are prevalent in expert PSG centers performing DBS. Most centers reported screening for these issues without the use of a formal battery, and there were a large number of centers reporting ICDs, DAWS and DDS post-DBS. A single treatment strategy did not emerge.
- "Can you look me in the Face?" Short-Term SSRI Administration Reverts Avoidant Ocular Face Exploration in Subjects at Risk for Psychopathology. [JOURNAL ARTICLE]
- Neuropsychopharmacology 2014 Jul 18.
Background:Anxiety and depression are associated with altered ocular exploration of facial stimuli, which could play a role in the misinterpretation of ambiguous emotional stimuli. However, it is unknown whether a similar pattern is seen in individuals at risk for psychopathology, and whether this can be modified by pharmacological interventions used in these disorders.Methods:In Study 1, eye gaze movement during face discrimination was compared in volunteers with high vs. low neuroticism scores on the Eysenck Personality Questionnaire. Facial stimuli either displayed a neutral, happy or fearful expression. In Study 2, volunteers with high neuroticism were randomised in a double-blind design to receive the selective serotonin reuptake inhibitor citalopram (20 mg) or placebo for 7 days. On the last day of treatment, eye gaze movement during face presentation and the recognition of different emotional expressions was assessed.Results:In Study 1, highly neurotic volunteers showed reduced eye gaze towards the eyes vs. mouth region of the face compared to low neurotic volunteers. In Study 2, citalopram increased gaze maintenance over the face stimuli compared to placebo and enhanced recognition of positive vs. negative facial expressions. Longer ocular exploration of happy faces correlated positively with recognition of positive emotions.Conclusions:Individuals at risk for psychopathology presented an avoidant pattern of ocular exploration of faces. Short-term SSRI administration reversed this bias before any mood or anxiety changes. This treatment effect may improve the capacity to scan social stimuli and contribute to the remediation of clinical symptoms related to interpersonal difficulties.Neuropsychopharmacology accepted article preview online, 18 July 2014; doi:10.1038/npp.2014.159.
- Evidence-based guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS). [REVIEW]
- Clin Neurophysiol 2014 Jun 5.
A group of European experts was commissioned to establish guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS) from evidence published up until March 2014, regarding pain, movement disorders, stroke, amyotrophic lateral sclerosis, multiple sclerosis, epilepsy, consciousness disorders, tinnitus, depression, anxiety disorders, obsessive-compulsive disorder, schizophrenia, craving/addiction, and conversion. Despite unavoidable inhomogeneities, there is a sufficient body of evidence to accept with level A (definite efficacy) the analgesic effect of high-frequency (HF) rTMS of the primary motor cortex (M1) contralateral to the pain and the antidepressant effect of HF-rTMS of the left dorsolateral prefrontal cortex (DLPFC). A Level B recommendation (probable efficacy) is proposed for the antidepressant effect of low-frequency (LF) rTMS of the right DLPFC, HF-rTMS of the left DLPFC for the negative symptoms of schizophrenia, and LF-rTMS of contralesional M1 in chronic motor stroke. The effects of rTMS in a number of indications reach level C (possible efficacy), including LF-rTMS of the left temporoparietal cortex in tinnitus and auditory hallucinations. It remains to determine how to optimize rTMS protocols and techniques to give them relevance in routine clinical practice. In addition, professionals carrying out rTMS protocols should undergo rigorous training to ensure the quality of the technical realization, guarantee the proper care of patients, and maximize the chances of success. Under these conditions, the therapeutic use of rTMS should be able to develop in the coming years.
- Social disorder and diagnostic order: the US Mental Hygiene Movement, the Midtown Manhattan study and the development of psychiatric epidemiology in the 20th century. [JOURNAL ARTICLE]
- Int J Epidemiol 2014 Jul 15.
Recent scholarship regarding psychiatric epidemiology has focused on shifting notions of mental disorders. In psychiatric epidemiology in the last decades of the 20th century and the first decade of the 21st century, mental disorders have been perceived and treated largely as discrete categories denoting an individual's mental functioning as either pathological or normal. In the USA, this grew partly out of evolving modern epidemiological work responding to the State's commitment to measure the national social and economic burdens of psychiatric disorders and subsequently to determine the need for mental health services and to survey these needs over time. Notably absent in these decades have been environmentally oriented approaches to cultivating normal, healthy mental states, approaches initially present after World War II. We focus here on a set of community studies conducted in the 1950s, particularly the Midtown Manhattan study, which grew out of a holistic conception of mental health that depended on social context and had a strong historical affiliation with: the Mental Hygiene Movement and the philosophy of its founder, Adolf Meyer; the epidemiological formation of field studies and population surveys beginning early in the 20th century, often with a health policy agenda; the recognition of increasing chronic disease in the USA; and the radical change in orientation within psychiatry around World War II. We place the Midtown Manhattan study in historical context-a complex narrative of social institutions, professional formation and scientific norms in psychiatry and epidemiology, and social welfare theory that begins during the Progressive era (1890-1920) in the USA.
- Restless legs syndrome/Willis-Ekbom disease diagnostic criteria: updated International Restless Legs Syndrome Study Group (IRLSSG) consensus criteria - history, rationale, description, and significance. [JOURNAL ARTICLE]
- Sleep Med 2014 May 17.
In 2003, following a workshop at the National Institutes of Health, the International Restless Legs Syndrome Study Group (IRLSSG) developed updated diagnostic criteria for restless legs syndrome/Willis-Ekbom disease (RLS/WED). These criteria were integral to major advances in research, notably in epidemiology, biology, and treatment of RLS/WED. However, extensive review of accumulating literature based on the 2003 NIH/IRLSSG criteria led to efforts to improve the diagnostic criteria further.The clinical standards workshop, sponsored by the WED Foundation and IRLSSG in 2008, started a four-year process for updating the diagnostic criteria. That process included a rigorous review of research advances and input from clinical experts across multiple disciplines. After broad consensus was attained, the criteria were formally approved by the IRLSSG executive committee and membership.Major changes are: (i) addition of a fifth essential criterion, differential diagnosis, to improve specificity by requiring that RLS/WED symptoms not be confused with similar symptoms from other conditions; (ii) addition of a specifier to delineate clinically significant RLS/WED; (iii) addition of course specifiers to classify RLS/WED as chronic-persistent or intermittent; and (iv) merging of the pediatric with the adult diagnostic criteria. Also discussed are supportive features and clinical aspects that are important in the diagnostic evaluation.The IRLSSG consensus criteria for RLS/WED represent an international, interdisciplinary, and collaborative effort intended to improve clinical practice and promote further research.
- REM Sleep Behavior and Motor Findings in Parkinson's Disease: A Cross-sectional Analysis. [Journal Article]
- Tremor Other Hyperkinet Mov (N Y) 2014.:245.
Parkinson's disease (PD) represents a major public health challenge that will only grow in our aging population. Understanding the connection between PD and associated prodromal conditions, such as rapid eye movement sleep behavioral disorder (RBD), is critical to identifying prevention strategies. However, the relationship between RBD and severity of motor findings in early PD is unknown. This study aims to examine this relationship.The study population consisted of 418 PD patients who completed the Movement Disorders Society-United Parkinson's Disease Rating Scale (MDS-UPDRS) and rapid eye movement sleep (REM) disorder questionnaires at the baseline visit of the Michael J. Fox's Parkinson's Progression Markers Initiative (PPMI). Cross-sectional analysis was carried out to assess the association between REM Sleep Behavior Screening Questionnaire score and MDS UPDRS-3 (motor) score categories. Correlation with a higher score category was described as "worse motor findings". A score of 5 on the REM disorder questionnaire was defined as predictive of RBD.Out of the 418 PD patients, 113 (27.0%) had RBD. With univariate logistic regression analysis, individuals with scores predictive of RBD were 1.66 times more likely to have worse motor findings (p = 0.028). Even with age, gender, and Geriatric Depression Scale scores taken into account, individuals with scores predictive of RBD were 1.69 times more likely to have worse motor findings (p = 0.025).PD patients with RBD symptoms had worse motor findings than those unlikely to have RBD. This association provides further evidence for the relationship between RBD and PD.
- Interoceptive sensitivity and sense of body ownership in patients with functional neurological symptoms. [Journal Article]
- J Neurol Neurosurg Psychiatry 2014 Aug; 85(8):e3.
Background and aims. Patients with functional (psychogenic) neurological symptoms are commonly seen in neurological practice. Though emotional/psychological causes are often proposed to underlie their symptoms, patients characteristically deny such problems, even when objective evidence for (for example) anxiety or panic is present. Interception is the perception of sensations from inside the body and includes the perception of physical sensations related to internal organ function. Heartbeat perception is considered a standard method for the assessment of interceptive sensitivity and it could be considered as a measure of self-awareness of internal stimuli which may have relevance for determining emotional state. The aim of our study was to evaluate interceptive awareness in patients with functional (psychogenic) movement symptoms (FMS). In addition we assessed the sense of body ownership using the rubber hand illusion (RHI).We included in the study 17 patients with FMS according to Fahn and Williams criteria. Eighteen healthy controls (HC), matched for age and gender served as a control group. Patients and HC were asked to complete the Toronto Alexithymia Scale (TAS-20) and the self-consciousness scale (self-objectification questionnaire), also we administered the Montgomery depression scale. Heart beat perception task: heart rate was recorded by means of a commercial heart rate monitor and subjects were asked to count their heart beats (only by concentration on their body and not by taking their pulse) during a signalled time interval. The reported number of beats was then compared to the actual number of beats. All subjects were tested before and after a stress-induction task. RHI: illusionary experience was measured by self-report and by proprioceptive alteration.FMS patients showed a poorer interceptive sensitivity than HC in the pre stress condition (p=0.048), but no difference was seen between groups in the post stress condition. No significant differences were revealed between patients with FMS and HC in the RHI on both perceptual (i.e. proprioceptive drift) and subjective (i.e. self-report questionnaire) measures.Patients with FMS have poor interoceptive sensitivity. This could relate to impairments of assessment of emotional state in these patients.
- The role of alexithymia in the development of functional motor symptoms (conversion disorder). [Journal Article]
- J Neurol Neurosurg Psychiatry 2014 Aug; 85(8):e3.
The mechanisms leading to the development of functional motor symptoms (FMS) are of pathophysiological and clinical relevance, yet are poorly understood. The aim of the present study was to evaluate whether impaired emotional processing at the cognitive level (alexithymia) is present in patients affected by FMS. We conducted a cross-sectional study in a population of patients with FMS and in two control groups [patients with organic movement disorders (OMD) and healthy volunteers].Fifty-five patients with FMS, 33 patients affected by OMD and 34 healthy volunteers were recruited. The assessment included: the 20-item Toronto Alexithymia Scale (TAS-20), the Montgomery-Asberg Depression Rating Scale (MADRS), the Reading the Mind in the Eyes' Test and the Structured Clinical Interview for Personality Disorders (SCID II).Alexithymia was present in 34.5% of patients with FMS, 9.1% with OMD and 5.9% of the healthy volunteers, which was significantly higher in the FMS group (Ï‡ square (2)=14.129.Alexithymia, a personality construct denoting the inability to identify emotions at a cognitive level, may explain why some patients misattribute autonomic symptoms of anxiety, e.g. tremor, paraesthesiae, paralysis, to that of a physical illness.