Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome.

The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.

The persistent and broadly distributed EEG synchronization might inhibit the normal processing capability of the human brain.

Synchrony in the brain functioning describes the mode that the components are interacted and reflect the collective behaviour of neuronal assemblies. Nevertheless, the excessive and prolonged coupling among brain sites is relevant with disturbed information routing. In the present study we investigated the possibility that the sustained oscillatory states and the common mode in which several brain sites vary their functional connectivity inhibit the ability of the brain in perceiving and processing information. The hypothesis, that in many interacting systems, greater regularity-rhythmicity corresponds to grater component self-organization and isolation, is investigated in the case of thought blocks (under persistent auditory verbal hallucinations) and epileptic absences (under spike wave discharges). Our findings indicate that the observed common mode of coupling significantly restrains the normal flow of mental processes. This erroneous "connectivity mode" in the presence of symptoms such as thought blocks and absences respectively, was found to eliminate the spontaneous synchrony variability, essentially needed for the information processing, by fixating the functional specificity of the respected brain sites.

Depressive Symptoms in Patients with Congenital Heart Disease: Incidence and Prognostic Value of Self-Rating Depression Scales.

OBJECTIVE: To determine the presence of depressive symptoms in adolescent and adult patients with CHD and their impact on prognosis, using self-rating depression scales. DESIGN: Prospective study. SETTING: Outpatient clinic of a tertiary center. PATIENTS: Sixty ambulatory adolescent and adult patients admitted at the outpatient clinic for regular evaluation. METHODS: Self-rating depression questionnaires (Beck Depression Inventory [BDI] and Zung Self-Rating Depression Scale [Zung SDS]) were administered on admission. Patients were characterized as having depressive symptoms when scores on both questionnaires were above cutoff levels and were subsequently followed for 5.1 ± 1.1 years for major adverse cardiovascular events (MACEs; death or hospitalization for cardiac reasons). RESULTS: Seventeen patients (mean age 28.9 ± 11.4 years) were characterized as having depressive symptoms. According to univariate Cox regression analysis, the presence of depressive symptoms was independently associated with adverse clinical outcome. During the follow-up period, patients with depressive symptoms had a shorter event-free survival (1559 ± 92 days vs. 1077 ± 188 days, P = .00215) and a twofold higher risk of getting a MACE, compared with patients without (95% CI 1.630 to 3.616, P < .05). Based on receiver operator characteristics, the BDI had a better prognostic value for future MACEs (area under curve = 0.662, 95% CI 0.5442 to 0.7792; P < .05) compared with the Zung SDS. Mean event-free survival for patients with BDI ≥ 10 was 986 ± 179 days vs. 1624 ± 83 days for patients with BDI < 10. CONCLUSIONS: The incidence of depressive symptomatology in patients with CHD is rather high and is associated with poorer prognosis. The BDI seems to independently predict adverse clinical outcome. Standardized screening tools and psychosocial interventions to improve the well being of these patients should be a priority in the overall care of this population.

Suicidal behavior in a patient with burning mouth syndrome.

Introduction. Chronic pain of the oral cavity is a long-term condition and like all other types of chronic pain is associated with numerous comorbidities such as depression or anxiety. Case Presentation. This is a case of a 93-year-old patient suffering from chronic oral cavity pain who repeatedly stabbed his palate due to ongoing local pain, over the last few months, which he could not further tolerate. The patient was suffering from depression and also a diagnosis of "burning mouth syndrome" (BMS) was made. Discussion. Burning mouth syndrome (BMS) is characterized by a burning sensation in the tongue or other oral sites. BMS has high psychiatric comorbidity but can occur in the absence of psychiatric diagnosis. Patients with multiple forms of pain must be considered as potential candidates for underdiagnosed depression (major) and suicidal thoughts.

Brain functional connectivity during the experience of thought blocks in schizophrenic patients with persistent auditory verbal hallucinations: an EEG study.

Thought blocks (TBs) are characterized by regular interruptions in the stream of thought. Outward signs are abrupt and repeated interruptions in the flow of conversation or actions while subjective experience is that of a total and uncontrollable emptying of the mind. In the very limited bibliography regarding TB, the phenomenon is thought to be conceptualized as a disturbance of consciousness that can be attributed to stoppages of continuous information processing due to an increase in the volume of information to be processed. In an attempt to investigate potential expression of the phenomenon on the functional properties of electroencephalographic (EEG) activity, an EEG study was contacted in schizophrenic patients with persisting auditory verbal hallucinations (AVHs) who additionally exhibited TBs. In this case, we hypothesized that the persistent and dense AVHs could serve the role of an increased information flow that the brain is unable to process, a condition that is perceived by the person as TB. Phase synchronization analyses performed on EEG segments during the experience of TBs showed that synchrony values exhibited a long-range common mode of coupling (grouped behavior) among the left temporal area and the remaining central and frontal brain areas. These common synchrony-fluctuation schemes were observed for 0.5 to 2s and were detected in a 4-s window following the estimated initiation of the phenomenon. The observation was frequency specific and detected in the broad alpha band region (6-12Hz). The introduction of synchrony entropy (SE) analysis applied on the cumulative synchrony distribution showed that TB states were characterized by an explicit preference of the system to be functioned at low values of synchrony, while the synchrony values are broadly distributed during the recovery state. Our results indicate that during TB states, the phase locking of several brain areas were converged uniformly in a narrow band of low synchrony values and in a distinct time window, impeding thus the ability of the system to recruit and to process information during this time window.

Indication of increased phase coupling between theta and gamma EEG rhythms associated with the experience of auditory verbal hallucinations.

Electroencephalographic oscillations, with different spectral contents, recorded in various brain sites are assumed to play an important role in the information processes underlying cognition as well as the abnormal brain functioning observed in nosological entities that affect neuronal connectivity such as schizophrenia. In the present study we investigated the interaction of EEG rhythms during the experience of auditory verbal hallucinations (AVHs). For this purpose we analyzed data obtained from patients suffering from persistent AVHs, focusing on the mode that the phase of theta oscillations modulate the amplitude of the broad gamma EEG oscillations. Our results indicate increased phase coupling between theta and gamma rhythms observed in the left frontotemporal cortices during AVHs, under eyes closed condition. The average differences of theta-gamma coupling between hallucinatory and resting stages in the left temporal area were found to be statistically significant. These results suggest that a theta-gamma interaction may be involved in the production and experience of AVHs in patients suffering from schizophrenia.

Cortical interactions during the experience of auditory verbal hallucinations.

Auditory verbal hallucinations (AVHs), the perception of voices in the absence of auditory stimuli, are common and distressing symptoms reported by 50%-80% of patients with schizophrenia. However, the results in a number of imaging and electrophysiological studies on the origins of AVH are not consistent, and the underlying pathophysiology remains unclear. The authors enrolled a group of schizophrenia patients and normal-control subjects, age 18-45 years. Two patient groups participated in the study; 1) a group of 8 patients with drug-resistant spontaneous AVHs; and 2) a group of 7 patients whose AVHs were successfully controlled with neuroleptic medication; along with 16 normal-control subjects. The entire sample had EEG recording done, with the AVH group told to press a button when they experienced a hallucination, and the other two groups randomly told when to press the button. In the AVH group, hallucinations were longer in the "eyes-closed" than "eyes-open" condition. There was spreading phase-coupling in the AVH group, intra- and inter-hemispherically, at left and right frontal and temporal areas, under both eyes-closed and eyes-open condition, during the experience of AVH. There was a statistically significant increase of α-band frequency-specific synchrony maximum values in the AVH group. AVHs are considered to be complex features, and, as such, they reflect abnormal functional connectivity in multiple related regions in both intra- and inter-hemispherical brain sites, primarily defined by phase-integration.

Reinforced spatial alternation as an animal model of obsessive-compulsive disorder (OCD): investigation of 5-HT2C and 5-HT1D receptor involvement in OCD pathophysiology.

BACKGROUND: This study introduces a laboratory model of compulsive behavior based on persistence in the context of rewarded spatial alternation. METHODS: Rats were screened for spontaneous persistence during T-maze reinforced alternation. Experiment 1: One high and one low spontaneous persistence group (n = 8) received 20 injections of fluoxetine, a matched pair saline, both followed by 4 days of meta-chlorophenylpiperazine (mCPP) challenge. Experiment 2: Five matched groups of rats (n = 9) received pretreatment (20 injections) with fluoxetine, mCPP, desipramine, diazepam or saline, followed by 4 days of mCPP challenge (fluoxetine in mCPP group). After washout, animals received 2 days of naratriptan, followed by another 2-day mCPP challenge. RESULTS: In both experiments mCPP significantly increased persistence in saline controls. Fluoxetine also acutely increased persistence scores: after a gradual return to baseline, these scores showed tolerance to mCPP. Experiment 1: This pattern was significant in high but not low initial persistence groups. Experiment 2: Fluoxetine and mCPP showed cross-tolerance. Neither desipramine nor diazepam protected against mCPP challenge. Persistence scores returned to baseline during washout and naratriptan and were thereafter increased by another mCPP challenge in all but the fluoxetine and mCPP groups, suggesting 5-HT2C receptor mediation. CONCLUSIONS: This model is based on spontaneous persistence behavior showing pharmacological responses concordant with those of compulsive symptomatology.

Validity and reliability of the newly translated Hellenic Neuropsychiatric Inventory (H-NPI) applied to Greek outpatients with Alzheimer's disease: a study of disturbing behaviors among referrals to a memory clinic.

CONTEXT: No rating scales of the neuropsychiatric symptoms of patients with dementia and Alzheimer's disease (AD) have previously been developed or translated. OBJECTIVES: To develop a Hellenic translation of the Neuropsychiatric Inventory (NPI), to evaluate it's reliability and validity, and to compare NPI results in Greek patients referred to a neuropsychiatry clinic for either of two reasons: disturbing behaviors evoking embarrassment and disturbing behaviors evoking fear in the caregiver. METHODS: The Hellenic translations of the NPI, Brief Psychiatric Rating Scale (BPRS), and Emotional Distress Scale (EDS) were compared in evaluating 29 consecutive referrals of patients with AD. RESULTS: The Hellenic NPI (H-NPI) demonstrated a high degree of internal consistency reliability, and of concurrent validity when compared to the BPRS or the EDS. Patients referred for behaviors evoking embarrassment presented with higher scores on NPI ratings of apathy. However, patients referred for behaviors evoking fear presented with higher scores on NPI ratings of aggression and irritability. CONCLUSIONS: These results indicate that the H-NPI is a reliable instrument, able to detect differences in clinically referred groups of AD patients.