Isabella Berardelli

Psychiatric disorders in adult-onset focal dystonia: A case-control study†

In a single‐center, case–control study, we investigated the frequency and types of psychiatric disturbances in 89 consecutive patients with various primary focal dystonias (34 had cervical dystonia (CD), 28 blepharospasm (BPS), 16 laryngeal dystonia (LD), and 11 arm dystonia), 62 healthy control subjects and as controls for BPS, 26 patients with hemifacial spasm (HFS). Patients and controls underwent a full psychiatric evaluation. Diagnosis was based on the structured clinical interview for DSM‐IV, obsessive‐compulsive disorder (OCD) was assessed with the Yale‐Brown Obsessive‐Compulsive scale, anxiety with the Hamilton Rating Scale for Anxiety, the severity of depression with the Beck Depression Inventory. Of the 89 patients with focal dystonias studied, 51 patients (57.3%) had a diagnosis of psychiatric disorders compared with only 15 of 62 healthy subjects (24.1%) and 9 of the patients with HFS (34.6%). Depressive disorders were more frequent in the CD and BPS groups than in healthy controls, whereas the frequency of anxiety disorders, OCDs or adjustment disorders approached that of healthy subjects. No difference was found in the frequency of any specific psychiatric disorder in patients with LD and arm dystonia and healthy controls. In 35 of 51 patients who had psychiatric disorders, these started before and in 16 patients after the onset of dystonia. No differences were found in age, dystonia severity, and duration of botulinum toxin treatment between patients with and without psychiatric disturbances. The most common psychiatric features in patients with CD and BPS are depressive disorders.

Abnormal cortical and brain stem plasticity in Gilles de la Tourette syndrome

We investigated primary motor cortex and brain stem plasticity in patients with Gilles de la Tourette syndrome. The study group comprised 12 patients with Gilles de la Tourette syndrome and 24 healthy subjects. Patients were clinically evaluated using the Yale Global Tic Severity Scale. We tested cortical plasticity by conditioning left primary motor cortex with intermittent or continuous theta‐burst stimulation in 2 separate sessions. Test stimulation consisted of 20 motor‐evoked potentials recorded from right first interosseous muscle before and after theta‐burst stimulation. We also tested brain stem plasticity by conditioning the right supraorbital nerve with facilitatory electric high‐frequency stimulation delivered at the same time as the late response of the blink reflex or inhibitory high‐frequency stimulation delivered before the late response on 2 separate sessions. Test stimulation consisted of 10 blink reflexes from the right orbicularis oculi muscle before and after high‐frequency stimulation. After intermittent theta‐burst stimulation, motor‐evoked potential amplitudes in healthy subjects increased significantly but remained unchanged in patients. Similarly, after continuous theta‐burst stimulation, motor‐evoked potential amplitudes decreased significantly in healthy subjects but did not in patients. After facilitatory high‐frequency stimulation, the blink reflex late response area in healthy subjects increased, whereas after inhibitory high‐frequency stimulation, it decreased. Conversely, in patients, both interventions left the blink reflex late response area unchanged. The lack of the expected inhibitory and facilitatory changes in motor‐evoked potential amplitudes and blink reflex late response area suggests that abnormal plasticity in the primary motor cortex and brain stem play a role in the pathophysiology of Gilles de la Tourette syndrome.

A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.

Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to “The Tourette Syndrome Classification Study Group” (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale‐Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive–compulsive disorder without motor or phonic tics. Tics mainly involved the craniocervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive–compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.

Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances *

Dystonia is characterized by the presence of involuntary muscle contractions that cause abnormal movements and posture. Adult onset focal dystonia include cervical dystonia, blepharospasm, arm dystonia and laryngeal dystonia. Besides motor manifestations, patients with focal dystonia frequently also display non-motor signs and symptoms. In this paper, we review the evidence of sensory and psychiatric disturbances in adult patients with focal dystonia. Clinical studies and neurophysiological investigations consistently show that the sensory system is involved in dystonia. Several studies have also demonstrated that neuropsychiatric disorders, particularly depression and anxiety, are more frequent in patients with focal dystonia, whereas data on obsessive compulsive disorders are more contrasting.

Cortical and brainstem plasticity in Tourette syndrome and obsessive-compulsive disorder.

Gilles de la Tourette syndrome is characterized by motor/vocal tics commonly associated with psychiatric disorders, including obsessive‐compulsive disorder. We investigated primary motor cortex and brainstem plasticity in Tourette patients, exposed and unexposed to chronic drug treatment, with and without psychiatric disturbances. We also investigated primary motor cortex and brainstem plasticity in obsessive‐compulsive disorder. We studied 20 Tourette patients with and without psychiatric disturbances, 15 with obsessive‐compulsive disorder, and 20 healthy subjects. All groups included drug‐naïve patients. We conditioned the left primary motor cortex with intermittent/continuous theta‐burst stimulation and recorded motor evoked potentials. We conditioned the supraorbital nerve with facilitatory/inhibitory high‐frequency stimulation and recorded the blink reflex late response area. In healthy subjects, intermittent theta‐burst increased and continuous theta‐burst stimulation decreased motor evoked potentials. Differently, intermittent theta‐burst failed to increase and continuous theta‐burst stimulation failed to decrease motor evoked potentials in Tourette patients, with and without psychiatric disturbances. In obsessive‐compulsive disorder, intermittent/continuous theta‐burst stimulation elicited normal responses. In healthy subjects and in subjects with obsessive‐compulsive disorder, the blink reflex late response area increased after facilitatory high‐frequency and decreased after inhibitory high‐frequency stimulation. Conversely, in Tourette patients, with and without psychiatric disturbances, facilitatory/inhibitory high‐frequency stimulation left the blink reflex late response area unchanged. Theta‐burst and high‐frequency stimulation elicited similar responses in drug‐naïve and chronically treated patients. Tourette patients have reduced plasticity regardless of psychiatric disturbances. These findings suggest that abnormal plasticity contributes to the pathophysiology of Gilles de la Tourette syndrome. However, obsessive‐compulsive disorder patients have normal cortical and brainstem plasticity.

Acute psychiatric treatment and the use of physical restraint in first-generation immigrants in Italy: A prospective concurrent study

Background and Aims: Immigrants in Europe appear at higher risk of psychiatric coercive interventions. No studies have investigated this issue in Italy. The aim of this study is to investigate whether the use of physical restraint, compulsory admission and other treatment characteristics differ in immigrated and Italian-born patients admitted to a psychiatric intensive care unit. Methods: One hundred first-generation immigrant patients were compared to 100 age-, gender- and diagnosis-matched Italian-born patients. Subjects were diagnosed according to DSM-IV-TR and rated on the Clinical Global Impression – Severity Scale and the Global Assessment of Functioning. Clinical data and treatment characteristics were collected. Results: Immigrant patients were more likely to be physically restrained as compared to Italian-born patients (11% vs 3%; χ 2 = 4.92; p = 0.027; RR = 3.67; 95% CI = 1.05–12.7). No differences in the proportion of involuntary treatment were found. Immigrant patients did not receive higher doses of antipsychotics or benzodiazepines, but they had a longer stay in the hospital. Conclusions: The higher rate of physical restraint among migrants may reflect cultural, ethnic and language differences leading to communication problems between immigrant patients and mental health professionals. Since coercive interventions can be harmful, specific strategies to prevent this phenomenon in immigrants are needed.

Psychopathological features of obsessive–compulsive disorder in an Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 gene

We report the psychopathological features in a large Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 gene. Of the 23 living family members, 14 were evaluated using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression and the Global Assessment of Functioning scale. Ten patients were found to have obsessive-compulsive disorder in which tic-like compulsions predominated. The distinctive feature of this family is the high frequency of obsessive-compulsive disorder with various clinical phenotypes.

Ethiopathogenesis of Depressive Disorders

Etiology of depressive disorders is still unknown. Several factors are involved in its pathophysiology such as neurotransmitters and neuroendocrine alterations, genetics, life events and their appraisal. Some of these components are strictly linked. Subjects with a family member affected by mood disorders are more prone to suffer from depressive disorders. It is also true that receiving feedbacks of indifference or neglect during childhood from one parent who suffer from depression may represent a factor of vulnerability. Indeed, reaction to a specific negative event may determine an increased allostasis which lead to a depressive episode. Thus, a psychological cause does not exclude a neurobiological cascade. Whereas in other cases recurrent depressive episodes appear in absence of any negative life event. This review provides a set of data regarding the current etiopathogenesis models of depression, with a particular attention to the neurobiological correlates and vulnerability factors.

Clinical course of psychiatric disorders in patients with cervical dystonia

We assessed the course of psychiatric disorders in 23 cervical dystonia patients by using the structured clinical interview for DSM-IV and different rating scales. Patients were studied on two occasions 5 years apart. There were no differences in psychiatric disorders and severity of psychiatric symptoms between the two evaluations, whereas the severity of dystonia was milder at the second evaluation. Psychiatric symptoms likely represent a primary disorder in cervical dystonia patients.

Psychiatric disturbances in patients with progressive supranuclear palsy: A case-control study

OBJECTIVES To investigate the frequency and the different types of psychiatric disturbances in PSP patients using validated psychiatric instruments. METHODS We conducted a case-control study using the Structured Clinical Interview (SCID-I) for DSM-IV to investigate psychiatric disorders in 28 PSP patients and 28 age and gender matched healthy controls. PSP severity was scored using the PSP rating scale; cognitive functions were assessed using the Montreal Cognitive Assessment scale and the Frontal Assessment Battery scale. RESULTS SCID-I disclosed that psychiatric disturbances were more frequent in PSP patients (53%) than in healthy controls (17.8%) (p = 0.005). Psychiatric disorders in PSP patients were characterized by mood disorders. Depression due to PSP was the most frequent diagnosis and was found in 8 of the 15 patients with depressive disorders. None of the PSP patients had a diagnosis of other SCID-I disorders. No clinical or demographic differences were found when comparing PSP patients with and without psychiatric disturbances. CONCLUSIONS Psychiatric disturbances, namely depressive disorders, were more frequent in PSP patients than in controls. A thorough evaluation of psychiatric disorders is important to insure appropriate treatment of PSP patients..