ABSTRACT
BACKGROUND AND PURPOSE: fMRI is a noninvasive tool for predicting postsurgical deficits in candidates with pharmacoresistant temporal lobe epilepsy. We aimed to test an adapted paradigm of the Rey Auditory Verbal Learning Test to evaluate differences in memory laterality indexes between patients and healthy controls and its association with neuropsychological scores. MATERIALS AND METHODS: We performed a prospective study of 50 patients with temporal lobe epilepsy and 22 healthy controls. Participants underwent a block design language and memory fMRI. Laterality indexes and the hippocampal anterior-posterior index were calculated. Language and memory lateralization was organized into typical and atypical on the basis of laterality indexes. A neuropsychological assessment was performed with a median time from fMRI of 8 months and was compared with fMRI performance. RESULTS: We studied 40 patients with left temporal lobe epilepsy and 10 with right temporal lobe epilepsy. Typical language occurred in 65.3% of patients and 90.9% of healthy controls (P = .04). The memory fMRI laterality index was obtained in all healthy controls and 92% of patients. The verbal memory laterality index was bilateral (24.3%) more frequently than the language laterality index (7.69%) in patients with left temporal lobe epilepsy. Atypical verbal memory was greater in patients with left temporal lobe epilepsy (56.8%) than in healthy controls (36.4%), and the proportion of bilateral laterality indexes (53.3%) was larger than right laterality indexes (46.7%). Atypical verbal memory might be associated with higher cognitive scores in patients. No relevant differences were seen in the hippocampal anterior-posterior index according to memory impairment. CONCLUSIONS: The adapted Rey Auditory Verbal Learning Test paradigm fMRI might support verbal memory lateralization. Temporal lobe epilepsy laterality influences hippocampal memory laterality indexes. Left temporal lobe epilepsy has shown a higher proportion of atypical verbal memory compared with language, potentially to memory functional reorganization.
Subject(s)
Epilepsy, Temporal Lobe , Epilepsy , Humans , Epilepsy, Temporal Lobe/complications , Epilepsy, Temporal Lobe/diagnostic imaging , Magnetic Resonance Imaging , Prospective Studies , Functional Laterality , Verbal Learning , Neuropsychological TestsABSTRACT
BACKGROUND: The management of coronavirus disease 2019 (COVID-19) in patients with comorbid psychiatric disorders poses several challenges, especially regarding drug interactions. METHODS: We report three representative case-scenarios on patients with psychiatric disorders and COVID-19 to provide a practical approach based on the existing literature and the clinical experience of an expert team in consultation-liaison psychiatry. CASE-CENTERED RECOMMENDATIONS: Psychopharmacological ongoing treatments should be prioritized and most doses should be reduced 25-50% of original dose if the patient receives lopinavir/ritonavir, with some exceptions including quetiapine, asenapine, olanzapine, sertraline, lamotrigine, bupropion, and methadone. If the psychopharmacological usual doses are in the low-to-median range levels, a dose change during COVID-19 drugs co-administration is not recommended, but only ECG and clinical monitoring of adverse effects and drug levels if required. Furthermore, when introducing a psychopharmacological drug, dose titration should be progressive, with ECG monitoring if cardiotoxic interactions are present. (A) In agitated delirium, olanzapine is recommended as first-line antipsychotic and quetiapine should be avoided. (B) In severe mental illness (SMI), essential treatments should be maintained. (C) In non-SMI with depressive/anxiety symptoms, psychological support should be provided and symptoms identified and treated. LIMITATIONS: Most recommendations on pharmacological interactions provide only a limited qualitative approach and quantitative recommendations are lacking. CONCLUSIONS: Patients with psychiatric disorders and COVID-19 should be managed on a personalized basis considering several clinical criteria and, should not be excluded from receiving COVID-19 treatments. Risks of pharmacological interaction are not absolute and should be contextualized, and most psychopharmacological treatments should include an ECG with special attention to QTc interval.
Subject(s)
Betacoronavirus , Coronavirus Infections/complications , Inpatients/psychology , Mental Disorders/complications , Mental Disorders/therapy , Pneumonia, Viral/complications , Referral and Consultation , Aged , Anti-Anxiety Agents/therapeutic use , Antidepressive Agents/therapeutic use , Antipsychotic Agents/therapeutic use , COVID-19 , Coronavirus Infections/psychology , Female , Humans , Male , Mental Disorders/psychology , Middle Aged , Pandemics , Pneumonia, Viral/psychology , Psychiatry , SARS-CoV-2ABSTRACT
OBJECTIVE: Research has shown that there is an association between Inflammatory Bowel Disease, anxiety and mood disorders, however little is known about their association with Eating Disorders. In this paper we will present a case of a young female with a comorbid diagnosis of Inflammatory Bowel Disease and Eating Disorder, and then discuss the results from a systematic review of the literature, describing published cases of patients with the same condition. METHODS: A systematized review of the literature was conducted according to MOOSE guidelines. A computerized literature search of MEDLINE, PsycINFO and EMBASE, and a manual search through reference lists of selected original articles were performed to identify all published case-reports, case series and studies of Inflammatory Bowel Disease and Eating Disorders. RESULTS: Fourteen articles were included, encompassing 219 cases, including ours. The vast majority were females ranging from 10 to 44years old. Anorexia Nervosa (n=156) and Crohn's Disease (n=129) was the most frequent combination (n=90) reported in the literature. These cases present a poor prognosis because of corticoid refusal, medication abandon and/or deliberate exacerbation of IBD symptoms, in the context of trying to lose weight. CONCLUSION: Recent evidence suggests there is a possible association between Inflammatory Bowel Disease and Eating Disorders, although the mechanisms involved in its ethiopathogenesis are still unknown. To be aware of this association is important because a delayed diagnosis of this comorbidity may lead to worse prognosis. Further research and a multidisciplinary approach could facilitate earlier diagnosis and provide therapeutic interventions.
Subject(s)
Feeding and Eating Disorders , Inflammatory Bowel Diseases , Adolescent , Adult , Child , Comorbidity , Female , Humans , Male , Young AdultABSTRACT
BACKGROUND: To determine the prevalence of xerostomia and hyposalivation in Haemodialysis (HD) patients, to clarify risk factors, assess patient's quality of life, and to establish a possible correlation among interdialytic weight gain (IDWG) and xerostomia. MATERIAL AND METHODS: This study was performed on a group of 50 HD patients. Data were collected using a questionnaire containing demographic and clinical variables, a visual analogue scale (VAS) for xerostomia, IDWG, and an oral health impact profile questionnaire (OHIP-14). Unstimulated whole saliva (UWS) and stimulated whole saliva (SWS) were collected. RESULTS: A total of 28 HD patients (56%) suffered xerostomia. Dry mouth was associated with hypertension (OR, 5.24; 95% CI, 1.11-24.89) and benzodiazepine consumption (OR, 5.96; 95% CI, 1.05-33.99). The mean xerostomia VAS and OHIP-14 scores were 31.74±14.88 and 24.38±11.98, respectively. No significant correlation was observed between IDWG% and VAS and OHIP total score. Nonetheless, a positive correlation between VAS level of thirst and IDWG% was found (r=0.48 p=0.0001). UWS and SWS means (determined in 30 patients) were 0.16±0.17 and 1.12±0.64, respectively. Decreased values of UWS and SWS were reported in 53.33% and 36.66% of HD patients. CONCLUSIONS: Xerostomia in HD has a multifactorial aetiology due to accumulative risks as advanced age, systemic disorders, drugs, fluid intake restriction, and salivary parenchymal fibrosis and atrophy. Therefore, it is important to detect possible xerostomia risk factors to treat correctly dry mouth in HD patients and avoid systemic complications.
Subject(s)
Renal Dialysis , Xerostomia/epidemiology , Aged , Female , Humans , Male , Prevalence , Quality of Life , Risk FactorsABSTRACT
BACKGROUND: Failure of compliance with medical regimen is one of the major risk factors associated with morbidity and mortality in heart transplant (HT) recipients. Nevertheless, to date, there is no specific, gold-standard, comprehensive set of tools for assessing compliance in these patients. OBJECTIVE: The objective of the present study was to develop a specific instrument for the assessment of noncompliance with medical recommendations in HT recipients. METHODS: This prospective observational study used a nonprobability sampling method, which was performed from January 2006 to December 2012. All of the patients met clinical criteria for being included on the waiting list for a HT. We designed a scale for measuring the compliance degree at 12 months after heart transplantation. This scale included the most important aspects of the medical regimen, using nine discrete quantitative variables. The total score was described as the patient's Noncompliance Factor (NCF). The results were analysed by mean, ranks, and percentages. RESULTS: The sample was constituted of 61 participants who underwent surgical HT intervention and completed the 12-month follow-up assessment. The overall incidence of noncompliance was around 30% and only 43.1% of the recipients had an acceptable degree of compliance. CONCLUSIONS: The overall incidence of noncompliance in HT recipients is high and this can generate worse clinical outcomes. Evaluation by specific screening instruments like the one proposed in the present study can be useful for a systematic detection of this phenomenon.
Subject(s)
Heart Transplantation/psychology , Mass Screening/methods , Patient Compliance/statistics & numerical data , Female , Follow-Up Studies , Humans , Incidence , Male , Middle Aged , Postoperative Period , Prospective Studies , Risk Factors , Sampling Studies , Waiting ListsABSTRACT
We aimed to investigate the usefulness of coregistration of positron emission tomography (PET) and magnetic resonance imaging (MRI) findings (PET/MRI) and of coregistration of PET/MRI with subtraction ictal single-photon emission computed tomography (SPECT) coregistered to MRI (SISCOM) (PET/MRI/SISCOM) in localizing the potential epileptogenic zone in patients with drug-resistant epilepsy. We prospectively included 35 consecutive patients with refractory focal epilepsy whose presurgical evaluation included a PET study. Separately acquired PET and structural MRI images were coregistered for each patient. When possible, ictal SPECT and SISCOM were obtained and coregistered with PET/MRI. The potential location of the epileptogenic zone determined by neuroimaging was compared with the seizure onset zone determined by long-term video-EEG monitoring and with invasive EEG studies in patients who were implanted. Structural MRI showed no lesions in 15 patients. In these patients, PET/MRI coregistration showed a hypometabolic area in 12 (80%) patients that was concordant with seizure onset zone on EEG in 9. In 7 patients without MRI lesions, PET/MRI detected a hypometabolism that was undetected on PET alone. SISCOM, obtained in 25 patients, showed an area of hyperperfusion concordant with the seizure onset zone on EEG in 7 (58%) of the 12 of these patients who had normal MRI findings. SISCOM hyperperfusion was less extensive than PET hypometabolism. A total of 19 patients underwent surgery; 11 of these underwent invasive-EEG monitoring and the seizure onset zone was concordant with PET/MRI in all cases. PET/MRI/SISCOM coregistration, performed in 4 of these patients, was concordant in 3 (75%). After epilepsy surgery, 13 (68%) patients are seizure-free after a mean follow-up of 4.5 years. PET/MRI and PET/MRI/SISCOM coregistration are useful for determining the potential epileptogenic zone and thus for planning invasive EEG studies and surgery more precisely, especially in patients without lesions on MRI.
Subject(s)
Epilepsies, Partial/diagnostic imaging , Epilepsies, Partial/pathology , Magnetic Resonance Imaging/methods , Multimodal Imaging/methods , Positron-Emission Tomography/methods , Preoperative Care/methods , Adolescent , Adult , Brain/diagnostic imaging , Brain/pathology , Brain/physiopathology , Brain/surgery , Brain Mapping/methods , Cerebrovascular Circulation/physiology , Child , Electroencephalography , Epilepsies, Partial/physiopathology , Epilepsies, Partial/surgery , Female , Fluorodeoxyglucose F18 , Follow-Up Studies , Humans , Male , Middle Aged , Prospective Studies , Radiopharmaceuticals , Seizures/diagnostic imaging , Seizures/pathology , Seizures/physiopathology , Seizures/surgery , Tomography, Emission-Computed, Single-Photon/methods , Video Recording , Young AdultABSTRACT
INTRODUCTION: We describe the 5 year experience of a genetic counselling program for familial dementias (the PICOGEN program). METHODS: The neurologist selected the candidates for genetic testing in the screening visit based on family history and phenotype (Alzheimer disease-AD, frontotemporal lobar degeneration-FTLD, or prion disease). Asymptomatic subjects who decided to know their genetic status were evaluated within a structured protocol by the psychiatrist and psychologist prior to entering the program and followed up afterwards. RESULTS: A total of 87 patients from 72 families were candidates for the genetic study, 20 of the 72 families had a family history of autosomal dominant early-onset dementia (ADEOD). A pathogenic mutation was found in 22 patients (8 PSEN1, 1 PSEN2, 1 APP, 4 MAPT, 8 PRNP), 5 of which had not been previously described. All positive cases, except for 1 PSEN1 (12.5%) and 4 PRNP (50%) showed ADEOD. In 3 ADEOD cases (15%) no pathogenic mutation was found. After individual genetic counselling, 24/54 asymptomatic subjects at risk decided to have the pre-symptomatic study, of whom 10 (42%) were carriers of the pathogenic mutation. In the follow up, no major psychiatric complication was observed. CONCLUSIONS: In our series, family history of ADEOD was a sensitive criterion for the detection of pathogenic mutations in AD and FTLD but not in prion diseases. No genetic anomalies were detected in 15% of the ADEOD cases using conventional diagnostic procedures, and 43% of pre-symptomatic subjects at risk who received individual genetic counselling decided to have the study. The pre-symptomatic diagnosis proved to be safe under these conditions.
Subject(s)
Dementia/genetics , Genetic Counseling , Adult , Aged , Aged, 80 and over , Humans , Middle Aged , Program Evaluation , Time FactorsABSTRACT
Associations between cholesterol and suicidal behavior in adolescent patients have not been explored in depth. In this study, 66 patients consecutively admitted to a psychiatric inpatient unit following attempted suicide were compared with a control group of 54 patients with no history of suicide attempts. The age range of the sample was from 8 to 18 years old. Cholesterol levels were significantly lower in attempted suicide patients than in controls (p < 0.02), supporting the hypothesis that lower cholesterol levels might be associated with suicidal behavior in patients with similar acute phase of their disorder.
Subject(s)
Cholesterol/blood , Hospitalization , Suicide, Attempted/psychology , Adolescent , Case-Control Studies , Child , Depressive Disorder/blood , Depressive Disorder/psychology , Female , Humans , Male , Mental Disorders/blood , Mental Disorders/psychology , Reference Values , Retrospective Studies , Risk Factors , SpainABSTRACT
PURPOSE: To evaluate the efficacy and safety of amisulpride in medical inpatients who present with delirium. METHOD: Open label prospective study with 7-day follow-up. Forty hospital inpatients with delirium were recruited, seven of whom died and two of whom refused medication. The average dose of amisulpride for delirium treatment was 200-300 mg/day. Daily assessments were performed with Delirium Rating Scale (DRS), Positive Subscale of the Positive and Negative Syndrome Scale (PANSS-P), Mini Mental State Examination (MMSE), Neurological Subscale of the UKU side effect rating scale. Variance analysis was performed through repeated measurements, with the general linear model with paired comparisons and Bonferroni correction for each measured variable. RESULTS: Patients showed significant improvement on the DRS from the first day of treatment DRS = 17.55 until day 7 DRS = 7.26 (F = 92.485; p < 0.001), psychotic symptoms improved from first day PANSS-P = 18.26 to last day PANSS-P = 9.35 (F = 144.83; p < 0.001). Cognitive status showed a significant improvement from day 2 MMSE = 18.71 until day 7 MMSE = 24.06 (F = 96.56; p < 0.001), and the neurological subscale of the UKU side effect rating scale showed a significant improvement the last day with respect to baseline pretreatment level (F = 7.539; p = 0.01). CONCLUSIONS: These results suggest a good response to amisulpride in the acute phase of delirium, although further randomized controlled studies must be performed.
Subject(s)
Delirium/drug therapy , Hospitalization , Sulpiride/analogs & derivatives , Aged , Aged, 80 and over , Amisulpride , Antipsychotic Agents/adverse effects , Antipsychotic Agents/therapeutic use , Delirium/diagnosis , Dose-Response Relationship, Drug , Female , Humans , Male , Mental Status Schedule , Middle Aged , Pilot Projects , Prospective Studies , Psychiatric Status Rating Scales , Sulpiride/adverse effects , Sulpiride/therapeutic use , Treatment OutcomeABSTRACT
INTRODUCTION: Functional hemispherectomy is a surgical technique used to treat refractory epilepsies in the setting of extensive unilateral hemispheric lesions. Most series of hemispherectomies include mainly pediatric patients. METHODS: We report our series of four adult patients that have undergone functional hemispherectomy for their refractory epilepsy. Each one had a complete presurgical evaluation including video EEG, neuropsychological testing and anatomical and functional neuroimaging. In three of them, the epilepsy was secondary to a middle cerebral artery infarction. One patient had Rasmussen encephalitis. RESULTS: After surgery, three patents have become completely seizure free (follow up 13-26 months). The fourth patient has had more than 75% reduction in seizure frequency. All of them have had significant improvement in their quality of life. Early complications included an isolated tonic-clonic generalized seizure (one patient), and status epilepticus in another patients related to infection and use of meropenem. Only one patient has presented hemianopia as a permanent neurological deficit after surgery. CONCLUSIONS: Functional hemispherectomy is a good surgical option in the setting of large unilateral hemispheric lesions causing hemiparesis and intractable seizures, even in adult patients.
Subject(s)
Epilepsy/surgery , Hemispherectomy , Adult , Electroencephalography , Epilepsy/pathology , Epilepsy/physiopathology , Female , Hemispherectomy/statistics & numerical data , Humans , Magnetic Resonance Imaging , Male , Treatment OutcomeABSTRACT
We present one patient with Parry Romberg syndrome and another with linear scleroderma in coup de sabre, with focal neurologic deficits and intractable seizures arising from the hemisphere ipsilateral to the cutaneous lesion. Brain MRI showed progressive hemispheric atrophy. Pathology after functional hemispherectomy showed chronic inflammatory features suggestive of Rasmussen encephalitis.
Subject(s)
Encephalitis/complications , Epilepsy/complications , Facial Hemiatrophy/complications , Scleroderma, Limited/complications , Telencephalon/physiopathology , Adult , Age of Onset , Atrophy/immunology , Atrophy/pathology , Atrophy/physiopathology , Autoimmune Diseases/physiopathology , Child , Encephalitis/immunology , Encephalitis/physiopathology , Epilepsies, Partial/complications , Epilepsies, Partial/immunology , Epilepsies, Partial/physiopathology , Epilepsy/immunology , Epilepsy/physiopathology , Facial Hemiatrophy/immunology , Facial Hemiatrophy/physiopathology , Female , Hemispherectomy , Humans , Immunosuppressive Agents/therapeutic use , Magnetic Resonance Imaging , Male , Scleroderma, Limited/immunology , Scleroderma, Limited/physiopathology , Telencephalon/immunology , Telencephalon/pathology , Treatment OutcomeABSTRACT
Complex motor behaviors differing from typical automatisms were found in 12 of 502 patients with temporal lobe epilepsy. Movements involved proximal limb segments (6) or body axis (6) and were often preceded by auras and followed by automatisms. Seven of 12 patients are seizure free after surgery. The other 5 patients declined surgery.
Subject(s)
Automatism/etiology , Automatism/physiopathology , Epilepsy, Temporal Lobe/complications , Epilepsy, Temporal Lobe/physiopathology , Movement Disorders/etiology , Movement Disorders/physiopathology , Adolescent , Adult , Brain/pathology , Brain/physiopathology , Electroencephalography , Epilepsy/diagnosis , Epilepsy/etiology , Epilepsy/physiopathology , Epilepsy, Temporal Lobe/diagnosis , Extremities/innervation , Extremities/physiopathology , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Muscle, Skeletal/physiopathologyABSTRACT
INTRODUCTION: We evaluate psychiatric disease associated with psychogenic non-epileptic seizures (PNES) and study the role played by previous traumatic experiences, dissociative episodes and personality disorders. METHOD: After diagnosing PNES in our epilepsy unit, we obtained a sample of 46 patients and carried out a structured psychiatric interview (SCID) following DSM-III-R criteria. We looked for previous dissociative episodes and prepared a questionnaire for traumatic experiences and basic clinical data. RESULTS: The most frequent psychiatric disorders were depression, anxiety and somatoform disorders. Personality disorders were found in 16 patients (34.78%), dissociative episodes in 17 (36.95%), and previous traumatic experiences in 14 (30.43%). No statistically significant differences were found in regards to PNES, with respect to presence or absence of previous traumatic experiences, dissociative episodes, and personality disorders. CONCLUSIONS: As in previous studies, our research project confirms the co-existence of PNES with other mental disorders, and although we do find a higher frequency of seizures, the role played by traumatic experiences and dissociative disorders in CNEP remains unclear.
Subject(s)
Mental Disorders/epidemiology , Referral and Consultation , Seizures/epidemiology , Seizures/rehabilitation , Adult , Comorbidity , Female , Hospitalization , Hospitals, General , Humans , Male , Personality Disorders/epidemiologyABSTRACT
The present study aims to validate the Spanish version of the Hospital Anxiety and Depression Scale (HADS) and to determine the use of this tool for screening mood and anxiety disorders. Psychometric properties of the HADS were assessed in different groups of general medical outpatients attending the Hospital Clínic in Barcelona (N=385), and psychiatric diagnoses were made using DSM-IV criteria. A two-factor solution corresponding to the original two subscales of the HADS was found. The Spanish version of the HADS had good internal consistency and external validity, with favorable sensitivity and specificity in identifying cases of psychiatric disorder as defined by the Structured Clinical Interview for DSM-IV (SCID-I). The psychometric properties of the HADS and its brevity make it useful for screening for psychiatric disorders in the medically ill.
Subject(s)
Anxiety Disorders/diagnosis , Depressive Disorder/diagnosis , Psychiatric Status Rating Scales , Surveys and Questionnaires , Adolescent , Adult , Aged , Anxiety Disorders/epidemiology , Depressive Disorder/epidemiology , Female , Humans , Male , Middle Aged , Outpatient Clinics, Hospital/statistics & numerical data , Prevalence , Psychometrics , Self-Assessment , Sensitivity and Specificity , Spain/epidemiologySubject(s)
Depressive Disorder, Major/epidemiology , Depressive Disorder, Major/genetics , Polymorphism, Genetic , Receptors, Serotonin/genetics , Adult , Female , Genetic Predisposition to Disease/epidemiology , Humans , Male , Middle Aged , Promoter Regions, Genetic/genetics , Receptors, Serotonin, 5-HT1 , Risk FactorsABSTRACT
OBJECTIVE: The aim of this single-blind study was to examine the efficacy and tolerability of citalopram compared to nortriptyline in moderate to severe major depressive patients aged 60 years or over. METHOD: In- and out-patients (N=58) with unipolar major depression were randomized to 12-week flexible dose treatment with nortriptyline or citalopram. RESULTS: No significant differences between the number of drop-outs in either group were observed, but the autonomic side-effects were significantly higher for nortriptyline than for citalopram. A significantly higher remission rate to nortriptyline than to citalopram was demonstrated, particularly if severe patients (endogenous or psychotic patients) were assessed. CONCLUSION: The remission rate to a therapeutic plasma level of nortriptyline appears to be higher than the remission rate to a standard dose of citalopram in a group of elderly major depressed patients, especially those with endogenous or psychotic features. On the other hand, citalopram appears to be better tolerated.
Subject(s)
Antidepressive Agents, Second-Generation/pharmacology , Antidepressive Agents, Tricyclic/pharmacology , Citalopram/pharmacology , Depressive Disorder/drug therapy , Nortriptyline/pharmacology , Age of Onset , Aged , Antidepressive Agents, Second-Generation/adverse effects , Antidepressive Agents, Tricyclic/adverse effects , Citalopram/adverse effects , Depressive Disorder/psychology , Female , Geriatric Psychiatry , Humans , Male , Middle Aged , Nortriptyline/adverse effects , Patient Compliance , Single-Blind Method , Treatment OutcomeABSTRACT
In the present study, genetic variation of the 5-HT5A receptor was analyzed in patients affected by affective disorders and healthy controls. The sample consisted of 181 patients with major depression, 88 patients with bipolar affective disorder (BP) and 157 unrelated controls (C), all of Spanish origin. Two polymorphisms (-19G/C and 12A/T) in the 5-HT5A receptor gene were analyzed by polymerase chain reaction amplification and subsequent enzyme digestion. No genotype, allele or haplotype differences were found when we compared patients and controls. When clinical variables were considered as possible tools for detecting genetic heterogeneity, no differences were found. Our results suggest that the polymorphisms analyzed in the 5-HT5A receptor gene do not play a major role in the pathogenesis of affective disorders.
Subject(s)
Bipolar Disorder/genetics , Depressive Disorder, Major/genetics , Genetic Variation/genetics , Mutation/genetics , Polymorphism, Genetic/genetics , Receptors, Serotonin/genetics , Adult , Aged , Alleles , Bipolar Disorder/metabolism , Bipolar Disorder/physiopathology , Chromosomes, Human, Pair 7/genetics , DNA Mutational Analysis , Depressive Disorder, Major/metabolism , Depressive Disorder, Major/physiopathology , Female , Genotype , Haplotypes/genetics , Humans , Male , Middle Aged , Receptors, Serotonin/metabolism , Serotonin/genetics , Serotonin/metabolismABSTRACT
The 102-T/C polymorphism of the 5-HT(2A) receptor gene was analysed in 159 patients with major depression and 164 unrelated and healthy controls using a case-control design. Allele and genotype frequencies did not differ between cases and controls. No differences according to sex, age of onset, melancholia, suicidal behaviour or family history of psychiatric illness were found. However, genotype distributions significantly differed between patients with seasonal pattern in their episodes (MDS) and patients with no seasonal pattern (N-MDS) (chi(2) = 10.63; P = 0.004). A seasonal pattern was 7.57 times more frequent in 102C-allele carriers than in 102T homozygous (95.1% of patients MDS carried 102C-allele vs 72% of patients N-MDS (chi(2) = 9.45, df=1, P = 0.002; OR = 7.57 (95% CI: 1.65--48.08)). These results suggest that variation in the 5-HT2A receptor gene may play a role in the development of major depression with seasonal pattern and support the existence of a genetic and etiological heterogeneity underlying the diagnosis of major depression.
Subject(s)
Depressive Disorder, Major/genetics , Genetic Variation , Receptors, Serotonin/genetics , Seasonal Affective Disorder/genetics , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Male , Receptor, Serotonin, 5-HT2AABSTRACT
Several lines of evidence suggest that genetic factors constitute an important determinant of suicidal behavior. A significant association between the 5-HT(2A)-C allele and suicidality has recently been reported. The aim of this study was to investigate whether the proposed association between 5-HT(2A)-102T/C polymorphism and suicidality could be replicated in a larger and independent sample of Spanish patients with major depression. The 102T/C polymorphism of the 5-HT(2A) receptor gene was analyzed in 159 patients with major depression (DSM-IV criteria) and 164 unrelated and healthy controls using a case control design. All individuals were subjects of Spanish origin. Significant differences in allele (chi-square = 4.13, df = 1, P = 0.04) and genotype (chi-square = 6.19, df = 2, P = 0.04) distributions were found between non-suicide attempters and suicide attempters. Moreover, those patients carrying 5-HT(2A)-C allele had more than five times the risk for attempting suicide than noncarriers (OR = 5.50, 95% CI = 1.18-35.20, P = 0.01). Our results replicate the proposed association between 5HT(2A)-C allele and suicidality in major depression. Moreover, no overall associations are detected when patients with major depression and controls are compared for 102T/C frequencies, suggesting that the increased risk for suicidality conferred by 5-HT(2A)-C allele is primarily associated with suicidal behavior and not with the diagnosis of major depression itself.