Psychiatry AND Tardive dyskinesia [keywords]
- De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. [JOURNAL ARTICLE]
- Mol Psychiatry 2016 Aug 23.
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.Molecular Psychiatry advance online publication, 23 August 2016; doi:10.1038/mp.2016.135.
- Altered perceptual binding in Gilles de la Tourette syndrome. [JOURNAL ARTICLE]
- Cortex 2016 Jul 30.:160-166.
Gilles de la Tourette syndrome (GTS) is a common multifaceted neuropsychiatric disorder. Research in GTS has traditionally focussed on mechanisms underlying changes in motor processes in these patients. There is, however, growing interest in GTS related sensory phenomena. According to the Theory of Event-coding (TEC), sensory stimuli do not only serve representational functions but also action-related functions. In the current study, we use the TEC framework to examine whether the way perceptual features are processed is altered in GTS. The results show that basic perceptual processes differ between GTS patients and healthy controls which might be central for the understanding of this disorder. Details or features of perceptual objects were less bound in GTS suggesting that perceptual features integration is attenuated in them. Behavioural findings were unrelated to patient characteristics implying that they might represent trait abnormalities. It is possible that altered perceptual processing in GTS is due to a long-range under-connectivity of parietal areas with other brain regions repeatedly been described in these patients.
- Repeated self-evaluations may involve familiarization: An exploratory study related to Ecological Momentary Assessment designs in patients with major depressive disorder. [JOURNAL ARTICLE]
- Psychiatry Res 2016 Aug 9.:99-104.
A growing body of research in clinical psychology is now relying on Ecological Momentary Assessment (EMA). EMA is fitted to investigate fluctuating processes and as such, it is of particular interest in a clinical context in which patients are often characterized by fluctuating behaviors and affective states or symptoms. EMA typically involves frequent self-evaluations over long periods, which may influence patient response. The present study aimed to determine whether EMA follow-ups could influence the participants' self-evaluations over time. The sample comprised 24 outpatients suffering from a Major Depressive Disorder (15 women, age = 51.4 ± 9.6). This study relied on an EMA protocol involving self-evaluations of seven depressive symptoms twice a day over 5 months. Patients did not show any clinical improvement following the clinical screening and the level of depressive symptoms during the follow-up. As a novel finding, significant moderate to large effects were observed for decreased variability and instability of psychological states over time. The main difference in temporal properties of psychological states was found after the first two weeks of the follow-up. This study characterized early changes in patients' self-evaluations, suggesting the idea of a valuable familiarization period during the first two weeks of an EMA follow-up.
- Age-related changes in post-movement beta synchronization during a selective inhibition task. [JOURNAL ARTICLE]
- Exp Brain Res 2016 Aug 16.
Post-movement beta synchronization (PMBS) modulations have been related to sensory reafferences after movement initiation and inhibitory processes after movement interruption. Although these processes have been separately studied in young and old adults, little is known about the age-related changes in PMBS during selective inhibitory control (i.e. stop a part of an action). The present study examines the age-related modulations of PMBS associated with sensory reafferences and inhibitory processes in selective inhibitory control. Young (n = 17) and old (n = 13) participants performed a switching task first engaging bimanual finger tapping then requiring to stop the left while maintaining the right unimanual tapping (i.e. selective inhibition) at an imperative stimulus. Age groups were compared on behavioral (mean, variability and percentage of errors of inter-tap interval during and after the switching) and electrophysiological (time-frequency and source estimations in the 14-30 Hz beta frequency range) data time-locked on the imperative stimulus. Behaviorally, old adults showed larger variability and percentage of errors during the switching but performed as well as young adults after the switching. Electrophysiologically, PMBS significantly increased after the switching in the old compared to the young group within bilateral frontal and parietal areas. Our results show that the effort to maintain selective inhibition involves increased brain activation in old compared to young adults. The larger PMBS within frontal and parietal regions in old adults may reflect an age-related brain compensation enabling to efficiently maintain post-switching inhibition.
- Adaptive deep brain stimulation for Parkinson's disease demonstrates reduced speech side effects compared to conventional stimulation in the acute setting. [LETTER]
- J Neurol Neurosurg Psychiatry 2016 Aug 16.
- Drug-Induced Extrapyramidal Syndromes: Implications for Contemporary Practice. [Journal Article, Review]
- Psychiatr Clin North Am 2016 Sep; 39(3):391-411.
The development of drugs to treat psychosis is a fascinating nexus for understanding mechanisms underlying disorders of mind and movement. Although the risk of drug-induced extrapyramidal syndromes has been mitigated by the acceptance of less potent dopamine antagonists, expansive marketing and off-label use has increased the number of susceptible people who may be at risk for these neurologic effects. Clinicians need to be familiar with advances in diagnosis and management, which are reviewed herein. A better understanding of drug-induced effects on the motor circuit may improve patient safety, enhance antipsychotic effectiveness, and provide insights into mechanisms underlying antipsychotic activity in parallel brain circuits.
- Effects of state and trait anxiety on sleep structure: A polysomnographic study in 1083 subjects. [JOURNAL ARTICLE]
- Psychiatry Res 2016 Jul 19.:279-283.
Anxiety affects millions of people and has been shown to co-occur in combination with sleep disturbances, generating heavy medical costs and a huge socio-medico-economic burden. Sleep-studies in anxiety disorders are inconsistent and the effects of state and trait anxiety are unexplored. We selected 1083 patients from the database of a hospital sleep laboratory. The patients had polysomnography for different sleep disorders; their sleep initiation (sleep onset latency), sleep maintenance (total sleep time), non-rapid eye movement sleep-, and rapid eye movement sleep parameters; as well as their State-Trait Anxiety Inventory and Beck depression scale were measured. In order to be included in our study, individuals needed to score in the low or high range on the State and/or Trait Subscales of the State-Trait Anxiety Inventory. We found that both state and trait anxiety affected non-rapid eye movement sleep parameters. Sleep onset latency changes predominantly associated to state anxiety while rapid eye movement parameters related to trait anxiety.
- Priority of Treatment Outcomes for Caregivers and Patients with Mild Cognitive Impairment: Preliminary Analyses. [JOURNAL ARTICLE]
- Neurol Ther 2016 Aug 9.
The patient-centered movement advocates for greater attention to the outcomes that matter most to patients and their families. In neurodegenerative disease, determination of patient and caregiver priorities has received scant attention in part because dementia patients are deemed unreliable reporters. However, people with mild cognitive impairment (MCI) likely retain capacity to report their preferences.In two separate MCI cohorts, we conducted preliminary analyses of patient and caregiver priorities among seven patient and five caregiver outcomes of the HABIT(®) Healthy Action to Benefit Independence & Thinking program (Mayo Clinic, Rochester, MN, USA).Via interview and paper-and-pencil reporting both patient and caregiver respondents' ranked patient and caregiver quality of life and patient self-efficacy as highest priorities, ranking them ahead of patient and caregiver mood, patient functional status, patient distressing behaviors and caregiver burden. Patients and caregivers tended to value the outcomes for their loved ones higher than their own outcomes.Caregivers appeared to be reasonable, but not perfect, proxies for patient reports. Additional research with larger cohorts and a more comprehensive range of outcomes is needed.
- Effectiveness of trauma-focused treatment for patients with psychosis with and without the dissociative subtype of post-traumatic stress disorder. [JOURNAL ARTICLE]
- Br J Psychiatry 2016 Aug 4.
This study presents secondary analyses of a recently published trial in which post-traumatic stress disorder (PTSD) patients with psychosis (n = 108) underwent 8 sessions of trauma-focused treatment, either prolonged exposure (PE) or eye movement desensitisation and reprocessing (EMDR) therapy. 24.1% fulfilled the criteria for the dissociative subtype, a newly introduced PTSD subtype in DSM-5. Treatment outcome was compared for patients with and without the dissociative subtype of PTSD. Patients with the dissociative subtype of PTSD showed large reductions in clinician-administered PTSD scale (CAPS) score, comparable with patients without the dissociative subtype of PTSD. It is concluded that even in a population with severe mental illness, patients with the dissociative subtype of PTSD do benefit from trauma-focused treatments without a pre-phase of emotion regulation skill training and should not be excluded from these treatments.