• Sleep Medicine and Psychophysiology
• /
• v.28 no.2
• /
• pp.43-52
• /
• 2021

Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyperarousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most important pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interactions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an increase in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.

• Clinical Psychopharmacology and Neuroscience
• /
• v.16 no.4
• /
• pp.497-500
• /
• 2018

Prader-Willi syndrome (PWS) is a quite rare multi-systemic genetic disorder strongly associated with psychiatric illness in adults, especially psychosis. This report presents a 16-year-old female with PWS and symptoms of brief psychotic disorder with a complete resolution of symptoms under aripiprazole medication. However, an exacerbation occurred after aripiprazole reduction. Apart from a weight gain of about 2 kg over the course of two years, no adverse effects could be found. This first report on the use of aripiprazole in a subject with PWS and psychosis suggests that aripiprazole might be a promising treatment approach in this distinct group of patients.

• Journal of Yeungnam Medical Science
• /
• v.36 no.3
• /
• pp.249-253
• /
• 2019

There is considerable overlap in the clinical presentations of apathy and depression. However, differential diagnosis between apathy and other psychiatric conditions, including depression and dementia, is important. In this report, we present the case of a 67-year-old woman with a history of receiving selective serotonin reuptake inhibitor (SSRI) treatment for depression. Differential diagnosis between treatment-resistant depression and SSRI-induced apathy syndrome was required. The symptoms of her apathy syndrome were relieved after the discontinuation of SSRIs and the addition of olanzapine, methylphenidate, and modafinil. Furthermore, we briefly review related literature in this article.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.37 no.4
• /
• pp.545-550
• /
• 2010

Freeman-Sheldon Syndrome (FSS, also known as "Whistling Face Syndrome") is a rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness. The patient, 11 years old boy was consulted from pediatrics to pediatric dentistry due to dental management. After clinical & radiographic examinations, severe multiple problems were found. Dental problems were microsomia(whistling mouth) & micrognathia, perioral muscle contracture, restricted mouth opening, poor oral hygiene & care, generalized dental caries, high palatal vault, severe malocclusion & crowding. And Orthopedic problems, ophthalmic & respiratory, anesthetic problems were found. Then He also had psychiatric problem, hospital(dental) phobia due to previous medical history(frequent hospitalization). And he had genital problem, cryptochidism, too. Due to these intricate problems, he suffered with feeding, swallowing difficulties and showed growth retardation. For enhancing patient's oral health, pediatric dentist, orthodontist, oral surgeon, pediatrician, psychiatrist, orthopedist, they all agree with early, cautious intervention and treatment. So, he has been treated by multidisciplinary care, now he is recovering general health maintenance.

• Sleep Medicine and Psychophysiology
• /
• v.3 no.2
• /
• pp.65-76
• /
• 1996

Natural sleep pattern and its physiology in childhood are much different from those in adulthood. Several aspects of clinical evaluation for sleepiness in childhood are more difficult than in adulthood. These difficulties are due to several factors. First, excessive sleepiness in childhood do not always develop functional impairments. Second, objective test such as MSLT may not be reliable since it is hard to be certain that the child understand instructions. Third, sleepiness in children is often obscured by irritability. paradoxical hyperactivity, or behavioral disturbances. Anseguently, careful clinical evaluation is needed for the sleepy children. Usual causes of sleepiness in children are the disorders that induce insufficient sleep such as sleep apnea syndrome, schedule disorder, underlying medical and psychiatric disorder, and so forth. After excluding such factors, we can diagnose the hypersomnic disorders such as narcolepsy, Kleine-Levin syndrome, and idiopathic central nervous system hypersomnia. Among the variety of those causes of sleepiness, I reviewed the clinical difference of narcolepsy and obstructive sleep apnea syndrome in childhood compared with in adulthood. Recognition of the childhood narcolepsy is difficult because even severely sleepy children often do not develop pathognomic cataplexy and associated REM phenomena until much later. Since childhood narcolepsy give srise to many psychological, academical problem. Practicers should be concerned about these aspects. Childhood obstructive sleep apnea syndrome is different from adult obstructive sleep apnea syndrome too. Several aspects such as pathophysiology. clinical feature, diagnostic criteria, complication, management, and prognosis differ from those in the adult syndrome. An important feature of childhood obstructive sleep apnea syndrome is the variety of severe complications such as behavioral disorders, cognitive impairment, cardiovascular symptoms, developmental delay, and ever death. Fortunately, surgical interventions like adenotosillectomy or UPPP are more effective for Childhood OSA than adult form. CPAP is a "safe, effective, and well-tolerated" treatment modality too. So if early detection and proper management of childhood OSA were done, the severe complication would be prevented or ever cured.

• Clinical and Experimental Pediatrics
• /
• v.54 no.2
• /
• pp.55-63
• /
• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Journal of Acupuncture Research
• /
• v.39 no.3
• /
• pp.234-238
• /
• 2022

A 53-year-old male who had received surgery on his right ankle joint 10 years previously was diagnosed with Complex Regional Pain Syndrome the following year. Despite various treatments (sympathetic nerve-block medication, pain relievers, corticosteroids, nerve blocks, and transcutaneous electrical nerve stimulation) over the years there was no improvement in his symptoms. Recently the patient was admitted to a Korean medicine hospital where he received treatment (acupuncture, pharmacopuncture, and herbal treatment) and his symptoms gradually showed improvement. The patient was concurrently on psychiatric medicine, antihistamine medication, and opioids for pain (when necessary). A decrease in numeric rating scale, Oswestry disability index scores, and an increase in the Korean version of the 5-level EuroQol-5 dimension score showed symptom improvement within 36 days. This study suggests complex Korean medicine treatment for Complex Regional Pain Syndrome may result in a reduction in pain and improved quality of life.

• Korean Journal of Psychosomatic Medicine
• /
• v.9 no.2
• /
• pp.174-181
• /
• 2001

Objectives : The author investigated the rate of diagnostic agreement between consultants and consultees and concordance ratings on the consultees' recommendation to examine the interactive collaborativeness and find the factors that influence the reflectiveness on treatment. Methods : The subjects were 54 patients with delirium selected from 583 cases referred from other departments who were admitted to Hanyang University Kuri Hospital from July 1, 1995 to Dec. 31, 1997. The information on demographic data, diagnostic impression, symptoms, management before consultation, psychiatric recommendation, management after consultation, diagnoses at the referring departments and the psychiatric department on delirium was obtained by medical records and consultation papers retrospectively. The reflectiveness of the psychiatric recommendation was divided into complete concordance, partial concordance, and nonconcordance and among them the complete and partial concordance were considered for concordance. The reflectiveness was compared among all the departments and between medical unit and surgery unit. Results: The rate of diagnostic agreement on the cause of delirium was highest(85.7%) in organic brain syndrome and lowest in general medical condition(0%). There was no statistically significant differences between medical unit and surgery unit. Neither differences were there among all the departments. In comparing symptoms affecting the reflectiveness, it was 73.5% in impulsive and aggressive behavioral changes, whereas 40.0% in behavioral changes. Reflectiveness of psychiatric recommendation showed higher scores in the case of behavioral changes. The cases of sleep problem showed higher scores of reflectiveness. When these two symptoms of behavioral change and sleep problem were compared as one factor, the results suggested that there were significant differences. The cases with both two symptoms showed 80% in reflectiveness, and the cases with only one symptom or no symptoms showed 44.8% in reflectiveness. There were no statistical significances between concordance ratings and symptoms such as disturbance of consciousness, disorientation, and hallucination that cannot be easily evaluated at the referring departments. Conclusions : The rate of diagnostic agreement on the cause of delirium was highest in the case of organic brain syndrome in which lesions can be easily recognized. The factors that influence the reflectiveness of psychiatric recommendation were behavior changes and sleep disorders in the symptoms of evaluated cases.

• Korean Journal of Psychosomatic Medicine
• /
• v.29 no.2
• /
• pp.207-212
• /
• 2021

Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis is a neuroinflammatory disease mediated by autoantibodies to NMDAR. In the initial clinical stages of anti-NMDAR encephalitis, psychiatric symptoms like delusions, perceptual disturbances, and disorganized speech or behaviors are pronounced even without obvious neurological symptoms. Early treatments like immunotherapy and/or tumor removal are central to good clinical outcomes. Hence, it is important to diagnose early anti-NMDAR encephalitis, distinguishing it from mental disorder. In the present case study, the authors described psychiatric symptoms assessed with Positive and Negative Syndrome Scale (PANSS) of Ms. A, a 26-year-old woman, in the early phase of anti-NMDAR encephalitis. We will discuss the characteristic psychopathology of anti-NMDAR encephalitis toward prompt diagnosis and treatment. Ms. A showed a higher negative subscale score than positive one on the PANSS. Compared with mental disorder, negative symptoms and cognitive impairment would be more prominent in the early stage of anti-NMDAR encephalitis. Rituximab and teratoma removal were effective, and quetiapine showed good tolerability. It is recommended to evaluate anti-NMDAR encephalitis when negative symptoms, cognitive impairment, catatonia, changes in consciousness level, and neurological symptoms are observed, especially in young women.

• Korean Journal of Biological Psychiatry
• /
• v.26 no.2
• /
• pp.33-38
• /
• 2019

Psychiatric disorder as dysfunctional behavioural syndrome is a paradoxical phenomenon that is difficult to explain evolutionarily because moderate prevalence rate, high heritability and relatively low fitness are shown. Several evolutionary genetic models have been proposed to address this paradox. In this paper, I explain each model by dividing it into selective neutrality, mutation-selection balance, and balancing selection hypothesis, and discuss the advantages and disadvantages of them. In addition, the feasibility of niche specialization and frequency dependent selection as the plausible explanation about the central paradox is briefly discussed.