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2.
Neuropsychopharmacol Rep ; 44(2): 468-473, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38453164

ABSTRACT

INTRODUCTION: Catatonia, a psychomotor disorder characterized by diverse clinical signs, including stupor and mutism, remains elusive in its causes and a challenge to diagnose. Moreover, it is often underrecognized due to its resemblance to disorders of consciousness. However, when diagnosing catatonia, an antipsychotic medication may exacerbate the condition. The first-line treatment typically includes benzodiazepines and/or electroconvulsive therapy (ECT). CASE REPORT: A 60-year-old woman with systemic lupus erythematosus (SLE) and epilepsy presented with catatonic stupor. Despite stable treatment, she experienced an acute deterioration in consciousness, requiring hospitalization. Her condition improved markedly following a benzodiazepine challenge, as documented on EEG. This improvement was short-lived, but a second benzodiazepine challenge restored her from E1V1M1 (stupor) to E4V5M6 within minutes, as documented by a video recording. The patient was treated with lorazepam 1.5 mg/day orally and did not experience further relapses. DISCUSSION: The diagnosis of catatonia had been based on her scores on the Bush-Francis Catatonia Rating Scale (BFCRS; Screening, 6/14; Severity, 19), despite meeting only two DSM-5 criteria for catatonia (stupor and mutism). The diagnosis was supported by EEG and video documentation, excluding other potential differential diagnoses such as nonconvulsive status epilepticus and encephalopathy. Additional quantitative EEG analyses indicated that benzodiazepine administration increased brainwide alpha and beta band power significantly, suggesting that the benzodiazepine normalized attention, consciousness, and long-range synchronization. This report additionally emphasizes the significance of video recordings in managing catatonia, and it helps in accurately tracking symptoms, documenting comprehensively, and improving patient understanding, which is crucial for treatment adherence.


Subject(s)
Benzodiazepines , Catatonia , Electroencephalography , Stupor , Humans , Female , Catatonia/diagnosis , Catatonia/drug therapy , Middle Aged , Electroencephalography/methods , Stupor/diagnosis , Benzodiazepines/therapeutic use , Benzodiazepines/administration & dosage , Video Recording/methods , Lorazepam/therapeutic use , Lorazepam/administration & dosage
3.
BMJ Open ; 13(2): e065466, 2023 02 24.
Article in English | MEDLINE | ID: mdl-36828651

ABSTRACT

OBJECTIVES: Ambulance diversion and prolonged prehospital transfer time have a significant impact on patient care outcomes. Self-harm behaviour in particular is associated with difficulty in hospital acceptance and longer prehospital transfer time. This study aimed to determine if hospitals with both medical/surgical and psychiatric inpatient beds and high-level emergency care centres are associated with a decreased rate of difficulty in hospital acceptance and shorter prehospital transfer time for patients seeking medical care after self-harm behaviour. DESIGN AND SETTING: A retrospective observational study using the database of Japanese ambulance dispatch data in 2015. PARTICIPANTS: Patients who were transferred by ambulances after self-harm behaviour. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Multivariable logistic regression analysis and multivariable linear regression analysis were performed to assess whether the presence of hospitals with both medical/surgical and psychiatric inpatient beds and high-level emergency care centres in the city were associated with a decreased rate of difficulty in hospital acceptance and shorter prehospital transfer time. RESULTS: The number of transfers due to self-harm behaviour in 2015 was 32 849. There was an association between decreased difficulty in hospital acceptance and the presence of high-level emergency care centres (OR 0.63, 95% CI 0.55 to 0.71, p<0.01) and hospitals with both medical/surgical and psychiatric inpatient beds (OR 0.50, 95% CI 0.38 to 0.66, p<0.01). There was a significant reduction in prehospital transfer time in the city with high-level emergency care centres (4.21 min, 95% CI 3.53 to 4.89, p<0.01) and hospitals with medical/surgical and psychiatric inpatient beds (3.46 min, 95% CI 2.15 to 4.77, p<0.01). CONCLUSION: Hospitals with both medical/surgical and psychiatric inpatient beds and high-level emergency care centres were associated with significant decrease in difficulty in hospital acceptance and shorter prehospital transfer time.


Subject(s)
Emergency Medical Services , Mental Health Services , Self-Injurious Behavior , Humans , Ambulances , Japan , Hospitals
4.
J Appl Res Intellect Disabil ; 36(3): 558-570, 2023 May.
Article in English | MEDLINE | ID: mdl-36782372

ABSTRACT

BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is characterised by a changing pattern of overlapping intellectual, physical, and mental disabilities along the course of one's life. However, the impact of overlapping disorders (multimorbidity) on educational challenges remains unclear. METHOD: A survey was conducted with 88 caregivers of individuals with 22q11DS. A quantitative analysis of educational challenges and support needs divided into age groups (7-12, 13-15, 16-18, and 19 years and over) and a qualitative analysis of the free-text items in the questionnaire was conducted. RESULTS: Caregivers were more interested in comprehensive developmental support when their children were younger, and the emphasis shifted to concerns regarding environments that matched individual characteristics at older ages. Furthermore, when there are multiple disabilities or disorders, support is concentrated on the more obvious disabilities, and the lack of support for the less superficially obvious disabilities associated with multiple difficulties, including mental health problems, can be a challenge for people with 22q11DS and their families. CONCLUSIONS: This study suggests a need for increased focus on multimorbidity and associated disabilities in school education that are difficult to observe because of their mildness or borderline levels if present alone.


Subject(s)
DiGeorge Syndrome , Intellectual Disability , Child , Humans , DiGeorge Syndrome/epidemiology , Japan , Educational Status , Surveys and Questionnaires
5.
PCN Rep ; 2(1): e80, 2023 Mar.
Article in English | MEDLINE | ID: mdl-38868412

ABSTRACT

Aim: The 22q11.2 deletion syndrome (22q11DS) is associated with a high prevalence of mental health comorbidities. However, not enough attention has been paid to the elevated prevalence of high trait anxiety that begins early in life and may be enduring. We sought to identify specific medical, welfare, or educational difficulties associated with high trait anxiety in 22q11DS. Methods: A questionnaire-based survey was conducted for the parents of 22q11DS individuals (N = 125). First, a multiple regression analysis was conducted to confirm the hypothesis that high trait anxiety in individuals with 22q11DS would be associated with parents' psychological distress. This was based on 19 questionnaire options regarding what difficulties the parents currently face about their child's disease, characteristics, and traits. Next, we explored what challenges faced in medical, welfare, and educational services would be associated with the trait anxiety in their child. Results: The multiple regression analysis confirmed that the high trait anxiety was significantly associated with parental psychological distress (ß = 0.265, p = 0.018) among the 19 clinical/personal characteristics of 22q11DS. Furthermore, this characteristic was associated with various difficulties faced in the medical care, welfare, and education services, and the parent-child relationship. Conclusion: To our knowledge, this is the first study to clarify quantitatively how the characteristic of high anxiety level in 22q11DS individuals is related to the caregivers' perceived difficulties in medical, welfare, and educational services. These results suggest the necessity of designing service structures informed of the fact that high trait anxiety is an important clinical feature of the syndrome.

6.
Am J Med Genet A ; 188(1): 37-45, 2022 01.
Article in English | MEDLINE | ID: mdl-34480405

ABSTRACT

Parents of children with 22q11.2 deletion syndrome (22q11DS) experience distress not only due to multimorbidity in the patients, but also due to professionals' lack of understanding about 22q11DS and insufficient support systems. This study investigated relationships between medical, welfare, and educational challenges and parental psychological distress. A cross-sectional survey was conducted on primary caregivers of children with 22q11DS. Participants included 125 parents (114 mothers, 91.2%; average age = 44.3 years) who reported their challenges, psychological distress, and child's comorbidities of 22q11DS. Results showed that the difficulty in going to multiple medical institutions (ß = 0.181, p < 0.05) and lack of understanding by welfare staff and insufficient welfare support systems for 22q11DS (ß = 0.220-0.316, all p < 0.05) were associated with parental psychological distress, even after adjusting for child's comorbidities. In the subsample of parents whose child attended an educational institution, inadequate management in classroom and mismatch between service and users in educational settings were associated with psychological distress (ß = 0.222-0.296, all p < 0.05). This study reveals the importance of assessing not only severity of comorbidities in 22q11DS, but also the medical, welfare, and educational challenges for parental mental health.


Subject(s)
DiGeorge Syndrome , Psychological Distress , Adult , Child , Cross-Sectional Studies , DiGeorge Syndrome/epidemiology , DiGeorge Syndrome/genetics , DiGeorge Syndrome/psychology , Humans , Japan/epidemiology , Parents/psychology
9.
Cureus ; 12(12): e12407, 2020 Dec 31.
Article in English | MEDLINE | ID: mdl-33532164

ABSTRACT

Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease or primary familial brain calcification, manifests as bilaterally symmetric calcifications in the brain. Clinical symptoms range from movement disorders to cognitive impairment and psychiatric symptoms. Since 2012, IBGC has been reported as an inherited disorder with several causative genes, including SLC20A2; however, the genotype-phenotype association remains unclear. Furthermore, longitudinal follow-up studies investigating the prognosis of neuropsychiatric symptoms in IBGC are lacking. A 36-year-old woman who experienced recurrent psychosis since the age of 30 years was admitted to our hospital. Her symptoms included delusions, hallucinations, disorganized speech, and grossly disorganized behavior. Cranial CT revealed calcification of the bilateral basal ganglia and dentate nucleus. The possibility of metabolic or endocrinological disorders causing secondary calcification was excluded via laboratory examinations. The genetic analysis revealed SLC20A2 mutation, and therefore, she was diagnosed with definite IBGC. At the age of 37, 42, and 43 years, similar psychosis recurred due to a decrease in medication. Each episode was relieved within one week with a low dose of risperidone (1.5-2 mg/day p.o.). Eventually, remission was maintained with risperidone (1.5 mg/day). To our knowledge, genetically confirmed case of IBGC with psychosis has been rarely reported. Recurrent psychosis can be the sole symptom of SLC20A2-associated IBGC and may be remitted with a low dose of risperidone. Literature review including eight case reports shows no superiority between medications. Although our case indicates that a low dose of antipsychotics can alleviate symptoms without any side effects and should be continued to prevent relapse in some patients with IBGC, there has been still shortage of the clinical evidence. Further longitudinal studies on genotype-phenotype associations may expedite personalized medicine for patients with IBGC.

11.
Sci Rep ; 9(1): 17288, 2019 11 21.
Article in English | MEDLINE | ID: mdl-31754123

ABSTRACT

Idiopathic basal ganglia calcification (IBGC) is a rare intractable disease characterized by abnormal mineral deposits, including mostly calcium in the basal ganglia, thalamus, and cerebellum. SLC20A2 is encoding the phosphate transporter PiT-2 and was identified in 2012 as the causative gene of familial IBGC. In this study, we investigated functionally two novel SLC20A2 variants (c.680C > T, c.1487G > A) and two SLC20A2 variants (c.82G > A, c.358G > C) previously reported from patients with IBGC. We evaluated the function of variant PiT-2 using stable cell lines. While inorganic phosphate (Pi) transport activity was abolished in the cells with c.82G > A, c.358G > C, and c.1487G > A variants, activity was maintained at 27.8% of the reference level in cells with the c.680C > T variant. Surprisingly, the c.680C > T variant had been discovered by chance in healthy members of an IBGC family, suggesting that partial preservation of Pi transport activity may avoid the onset of IBGC. In addition, we confirmed that PiT-2 variants could be translocated into the cell membrane to the same extent as PiT-2 wild type. In conclusion, we investigated the PiT-2 dysfunction of four SLC20A2 variants and suggested that a partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of IBGC.


Subject(s)
Basal Ganglia Diseases/genetics , Basal Ganglia/pathology , Calcinosis/genetics , Neurodegenerative Diseases/genetics , Phosphates/metabolism , Sodium-Phosphate Cotransporter Proteins, Type III/deficiency , Adult , Aged, 80 and over , Basal Ganglia/cytology , Basal Ganglia Diseases/pathology , Calcinosis/pathology , Cell Membrane/metabolism , DNA Mutational Analysis , Female , Humans , Male , Middle Aged , Mutation , Neurodegenerative Diseases/pathology , Pedigree , Sodium-Phosphate Cotransporter Proteins, Type III/genetics
13.
Front Psychiatry ; 10: 1029, 2019.
Article in English | MEDLINE | ID: mdl-32153432

ABSTRACT

BACKGROUND: Vitamin B deficiency is common worldwide and may lead to psychiatric symptoms; however, vitamin B deficiency epidemiology in patients with intense psychiatric episode has rarely been examined. Moreover, vitamin deficiency testing is costly and time-consuming, which has hampered effectively ruling out vitamin deficiency-induced intense psychiatric symptoms. In this study, we aimed to clarify the epidemiology of these deficiencies and efficiently predict them using machine-learning models from patient characteristics and routine blood test results that can be obtained within one hour. METHODS: We reviewed 497 consecutive patients, who are deemed to be at imminent risk of seriously harming themselves or others, over a period of 2 years in a single psychiatric tertiary-care center. Machine-learning models (k-nearest neighbors, logistic regression, support vector machine, and random forest) were trained to predict each deficiency from age, sex, and 29 routine blood test results gathered in the period from September 2015 to December 2016. The models were validated using a dataset collected from January 2017 through August 2017. RESULTS: We found that 112 (22.5%), 80 (16.1%), and 72 (14.5%) patients had vitamin B1, vitamin B12, and folate (vitamin B9) deficiency, respectively. Further, the machine-learning models were well generalized to predict deficiency in the future unseen data, especially using random forest; areas under the receiver operating characteristic curves for the validation dataset (i.e., the dataset not used for training the models) were 0.716, 0.599, and 0.796, respectively. The Gini importance of these vitamins provided further evidence of a relationship between these vitamins and the complete blood count, while also indicating a hitherto rarely considered, potential association between these vitamins and alkaline phosphatase (ALP) or thyroid stimulating hormone (TSH). DISCUSSION: This study demonstrates that machine-learning can efficiently predict some vitamin deficiencies in patients with active psychiatric symptoms, based on the largest cohort to date with intense psychiatric episode. The prediction method may expedite risk stratification and clinical decision-making regarding whether replacement therapy should be prescribed. Further research includes validating its external generalizability in other clinical situations and clarify whether interventions based on this method could improve patient care and cost-effectiveness.

14.
Psychiatry Clin Neurosci ; 73(1): 34-42, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30375126

ABSTRACT

AIM: Cefepime, a fourth-generation cephalosporin, acts as a GABAA receptor antagonist. Cefepime-induced encephalopathy (CIE) is frequently overlooked. We aimed to clarify the clinical features, characteristic electroencephalography (EEG), and mechanisms of CIE to aid in its early recognition. METHODS: CIE cases documented by a single-center consultation-liaison team between April 2015 and March 2017 were retrospectively reviewed. For further investigation, neural mass modeling was performed in silico. RESULTS: Three patients with CIE refused medication/examination and showed overt pain, palilalia, and much greater deterioration of eye and verbal response than the motor response, which was possibly related to GABAergic dysfunction. Triphasic wave-like generalized periodic discharges with a high negative component (Tri-HNC) were identified on the EEG of all three cases. The simulation reproduced the characteristic feature of 2-3 Hz Tri-HNC and recovery course on EEG, and a possible involvement of individual differences in pharmacological intervention. It also suggested that auto-inhibition (synaptic inputs from interneuron to interneuron) dysregulation contributed to generating Tri-HNC in CIE. CONCLUSION: As CIE is iatrogenic and continues unless cefepime is stopped, early recognition is crucial. Physicians should be vigilant about altered mental status, pain, and verbal changes in patients taking cefepime. Tri-HNC on EEG can expedite the diagnosis of CIE, and the association between Tri-HNC and CIE suggests that an excitatory and inhibitory imbalance due to the dysfunction of GABAergic interneurons is the underlying mechanism. This modeling may offer a new method of investigating disorders related to GABAergic dysfunction.


Subject(s)
Brain Diseases/chemically induced , Brain/physiopathology , Cefepime/adverse effects , Computer Simulation , Models, Neurological , Adult , Aged, 80 and over , Brain Diseases/physiopathology , Electroencephalography , Female , Humans , Male , Middle Aged , Retrospective Studies
15.
Headache ; 58(10): 1503-1510, 2018 11.
Article in English | MEDLINE | ID: mdl-30178879

ABSTRACT

OBJECTIVE: In order to identify appropriate candidates with suspected meningitis for lumbar puncture (LP), study designs and diagnostic values of jolt accentuation of headache (JA) were reviewed. BACKGROUND: Acute meningitis is a life-threatening disease that requires LP for accurate diagnosis. JA was reported the most sensitive indicator of cerebrospinal fluid pleocytosis; however, subsequent studies have failed to confirm this claim. METHODS: We reviewed articles concerning JA, published prior to December 2017, using MEDLINE and Japanese medical databases. Seven original articles based on independent cohorts were eligible for inclusion and articles citing these 7 were thoroughly searched (11 in total). Additionally, all medical records of our previously reported cohort were reviewed again to explore how the patients' background influenced diagnostic values of JA. RESULTS: We hypothesized that an oversimplified dichotomy of JA findings, pleocytosis, and meningitis created a misconception that JA is a universal indicator of meningitis. We clarify the difference between them and present altered mental status (AMS) as a key to decrease the sensitivity of JA. Notably, the sensitivity and specificity of JA were relatively low in unselected groups, while they tended to be high in the selected sub-groups with acute onset of headache and fever, without AMS or neurological deficits. Unselected populations included etiologies of pleocytosis other than acute meningitis, which might weaken the association between JA and pleocytosis. CONCLUSION: JA is not a universal, stand-alone, indicator of meningitis in febrile patients with headache. Therefore, we propose a stepwise approach for patients with suspected acute meningitis. AMS or neurological deficits suggest an intracranial pathology, which may necessitate a lumbar puncture. JA seems a useful tool for distinguishing acute aseptic meningitis from upper respiratory infection when used in the selected cohort of febrile patients (≥37°C) with recent-onset headache (within 2 weeks before presentation) and normal mental status. This approach and diagnostic values of JA should be further investigated by prospective studies using operationally sorted candidates.


Subject(s)
Head Movements , Headache/etiology , Meningitis/diagnosis , Physical Examination/methods , Rotation , Acute Disease , Adult , Algorithms , Consciousness Disorders/etiology , Diagnosis, Differential , Disease Progression , Fever/etiology , Headache/cerebrospinal fluid , Humans , Leukocytosis/etiology , Meningitis/cerebrospinal fluid , Meningitis/complications , Predictive Value of Tests , Research Design , Respiratory Tract Infections/diagnosis , Retrospective Studies , Sensitivity and Specificity , Spinal Puncture
16.
Epilepsy Behav Case Rep ; 10: 102-105, 2018.
Article in English | MEDLINE | ID: mdl-30191125

ABSTRACT

Depressive disorders in epilepsy often present characteristic clinical manifestations atypical in primary, endogenous depression. Here, we report a case of a 64-year-old woman with right mesial temporal lobe epilepsy, who complained of bizarre, antipsychotic-refractory cenesthetic hallucinations in her interictal phase, and was hospitalized after a suicide attempt. Detailed clinical observations revealed mood symptoms, which led to the diagnosis of interictal dysphoric disorder comorbid with interictal psychosis. Sertraline with low-dose aripiprazole markedly alleviated both depressive and psychotic symptoms. This case suggested that the two diagnostic entities may overlap and that depressive symptoms tend to be concurrent when concurring with psychosis, which hampers the appropriate choice of a treatment option.

18.
J Gen Fam Med ; 19(4): 136-138, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29998044

ABSTRACT

We report a rare case of full neurological recovery in a 77-year-old woman with an initial Glasgow Coma Scale of 3 while taking a bedrock bath. Severe heatstroke was quickly diagnosed, and intensive treatment was immediately provided. Laboratory data showed multi-organ failure, and her electroencephalogram showed very low amplitude, indicating a poor prognosis; however, she gradually recovered consciousness, and her electroencephalogram normalized, showing a Glasgow Coma Scale of 15 at discharge. This case demonstrated that physicians should pay careful attention when withholding treatment from a patient with severe heatstroke accompanied by a poor initial electroencephalogram result and laboratory data.

19.
Epilepsy Behav Case Rep ; 9: 37-41, 2018.
Article in English | MEDLINE | ID: mdl-29692969

ABSTRACT

The association between emotional stimuli and temporal lobe epilepsy (TLE) is largely unknown. Here, we report the case of a depressed, 50-year-old female complaining of episodes of a "spaced out" experience precipitated by emotional stimuli. Psychogenic non-epileptic attacks were suspected. However, video-EEG coupled with emotional stimuli-provoked procedures and MRI findings of amygdala enlargement, led to the diagnosis of left TLE. Accurate diagnosis and explanation improved her subjective depression and seizure frequency. This case demonstrated that emotional stimuli can provoke seizures in TLE and suggested the involvement of the enlarged amygdala and the modulation of emotion-related neural circuits.

20.
Palliat Support Care ; 16(1): 41-49, 2018 Feb.
Article in English | MEDLINE | ID: mdl-28464966

ABSTRACT

OBJECTIVE: Our objective was to examine the accuracy of non-psychiatrist assessments of psychiatric problems in cancer patients. METHOD: We conducted a retrospective chart review of cancer patients who were admitted and referred to the consultation-liaison (C-L) team between January of 2011 and December of 2012. The agreement between non-psychiatrist assessments and final diagnoses by attending C-L psychiatrists was estimated for every category of referral assessment using codes from the International Classification of Mental and Behavioral Disorders (10th revision). The data were obtained from the consultation records of 240 cancer inpatients who were referred to the C-L service at a tertiary care center in Tokyo. RESULTS: The agreement ratio between referring oncologists and psychiatrists differed according to the evaluation categories. The degrees of agreement for the categories of "delirious," "depressive," "dyssomnia," "anxious," "demented," "psychotic," and "other" were 0.87, 0.43, 0.51, 0.50, 0.27, 0.55, and 0.57, respectively. The agreement for all patients was 0.65. Significant differences were observed among seven categories (chi-squared value = 42.454 at p < 0.001 and df = 6). The analysis of means for proportions showed that the degree of agreement for the "delirious" category was significantly higher and that that for the "depressive" category was lower than that for all patients, while for the "demented" category it was close to the lower decision limit but barely significant. One half of the 20 cases who were referred as depressive were diagnosed with delirium, with one quarter of those having continuously impaired consciousness. Some 7 of the 11 cases who were referred as demented were diagnosed as having delirium. SIGNIFICANCE OF RESULTS: The accuracy of non-psychiatrist assessments for psychiatric problems in cancer patients differs by presumed diagnosis. Oncologists should consider unrecognized delirium in cancer inpatients who appear depressed or demented.


Subject(s)
Clinical Competence/standards , Mental Disorders/diagnosis , Oncologists/standards , Adolescent , Adult , Aged , Aged, 80 and over , Delayed Diagnosis/trends , Female , Hospitalization , Humans , Inpatients/psychology , Male , Middle Aged , Retrospective Studies
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