• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.15-18
• /
• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• BMB Reports
• /
• v.52 no.5
• /
• pp.304-311
• /
• 2019

The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.

• Journal of Korean Neurosurgical Society
• /
• v.65 no.3
• /
• pp.370-379
• /
• 2022

Abusive head trauma (AHT) is the most severe form of physical abuse in children. Such injury involves traumatic damage to the head and/or spine of infants and young children. The term AHT was introduced to include a wider range of injury mechanisms, such as intentional direct blow, throw, and even penetrating trauma by perpetuator(s). Currently, it is recommended to replace the former term, shaken baby syndrome, which implicates shaking as the only mechanism, with AHT to include diverse clinical and radiological manifestations. The consequences of AHT cause devastating medical, social and financial burdens on families, communities, and victims. The potential harm of AHT to the developing brain and spinal cord of the victims is tremendous. Many studies have reported that the adverse effects of AHT are various and serious, such as blindness, mental retardation, physical limitation of daily activities and even psychological problems. Therefore, appropriate vigilance for the early recognition and diagnosis of AHT is highly recommended to stop and prevent further injuries. The aim of this review is to summarize the relevant evidence concerning the early recognition and diagnosis of AHT. To recognize this severe type of child abuse early, all health care providers maintain a high index of suspicion and vigilance. Such suspicion can be initiated with careful and thorough history taking and physical examinations. Previously developed clinical prediction rules can be helpful for decision-making regarding starting an investigation when considering meaningful findings. Even the combination of biochemical markers may be useful to predict AHT. For a more confirmative evaluation, neuroradiological imaging is required to find AHT-specific findings. Moreover, timely consultation with ophthalmologists is needed to find a very specific finding, retinal hemorrhage.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.7 no.1
• /
• pp.14-22
• /
• 1996

This study aims to look at main problems of visiting the clinic, diagnoses and other related factors of outpatients in a private psychiatric clinic f3r children and adolescents located in Seoul. The analyses were based on the reports of 2,785 patients who were 18 years old and less, and visited the clinic during last 4 years. The results showed that the ratio of boys to girls was 2.7 to 1, and about 64% of the whole sample were 6 years old and less. Especially the percentage of patients aged 3 and less was the highest and that of schoolage and more was gradually reduced. The average number of siblings was 195 and the percentage of the first child in a family was the highest. Particularly, there were more boys in rase of one child families and more girls in case of families with 3 children and more. The chief problems were mainly language-deficit, hyperactivity, autistic behaviour, tic, aggressive behavior and academic problem. The higher frequency of diagnoses was in the order of parent-child problem, mental retardation, developmental language disorder, reactive attachment disorder, other emotional disorder, and pervasive developmental disorder. The more frequently used method fir treatments was in the sequence of psychotherapy, play therapy, parental counseling, occupational therapy and speech therapy. The results from this study were compared with those from other studies and discussed.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.27 no.1
• /
• pp.146-150
• /
• 2000

Dental caries and periodontal disease continue to present unique problems in the dental management of the persons with disabilities because the chronicity of oral diseases complicates the primary physical or mental disability. The increased prevalence of dental disease in most persons with disabilities is probably not due to any inherent proclivity for dental disease but more likely evolves because dental care receives less attention. Prosthetic dentistry procedures are not contraindicated for most patients with physical and mental disabilities. Fixed bridges may be feasible if the patient or care provider can maintain adequate oral hygiene and the patient's disability dose not preclude this type of prosthesis. Removable partial or full dentures may be indicated if the patient or care provider can easily remove the prosthesis and care for it. Although most persons with disabilities need no additional behavior management modalities to complete dental care, some persons require professionally recognized behavior management techniques during treatment, such as physical restraint, pharmacologic agents, or general anesthesia. Hospitalization and the use of general anesthesia are sometimes required to deal effectively with the extreme management problem patient. This patient with mild mental retardation was fearful of dental treatment. Routine restorative, surgical and prosthetic dentistry procedures were performed under general anesthesia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.18 no.1
• /
• pp.10-15
• /
• 2007

Probably the three most important components to a comprehensive evaluation of patients with attention-deficit hyperactivity disorder (ADHD) are the clinical interview, the medical examination, and the completion and scoring or behavior rating scales. Teachers and other school personnel are often the first to recognize that a child or adolescent might have ADHD, and often play an important role in the help-seeking/referral process. A diagnostic evaluation for ADHD should include questions about ADHD symptoms, other problems including alcohol and drug use, family history of ADHD, prior evaluation and treatment for ADHD. Screening interview or rating scales as well as interviews should be used. When it is feasible, clinicians may wish to supplement these components of the evaluation with objective assessments of the ADHD symptoms, such as psychological tests. These tests are not essential to reaching a diagnosis, however, or to treatment planning, but they may yield further information about the presence and severity of cognitive impairments that could be associated with some cases of ADHD. Screening for intellectual ability and academic achievement skills is also important in determining the presence of comorbid developmental delay or loaming disabilities. The number and type of symptoms required for a diagnosis of ADHD vary depending on the specific subtype. To receive a diagnosis of ADHD, the person must be experiencing significant distress or impairment in daily functioning, and must not meet criteria for other mental disorders which might better account for the observed symptoms such as mental retardation, autism or other pervasive developmental disorders, mood disorders, anxiety disorders. This report aims to suggest a practice guideline of assessment and diagnosis for children and adolescents with ADHD in Korea.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.7 no.2
• /
• pp.190-202
• /
• 1996

This study assessed psychiatrically referred 5-to 13-year-old children who presented inattention or hyperactivity as chief complaints. Demographic characteristics, primary diagnosis, and comorbid psychiatric conditions of them were identified, and they were assessed using questionnaires and neuropsychological tests. Primary diagnoses included ADHD, anxiety disorder, mental retardation, depression, oppositional defiant disorder, developmental language disorder and others. functional enuresis, conduct disorder, and developmental language disorder were among the secondarily diagnosed disorders. In patients diagnosed as ADHD, overall comorbidity rate was 55.3%. The disorders that frequently co-occured with ADHD were specific developmental disorder, conduct disorder, oppositional defiant disorder, anxiety disorder and other. ADHD groups with or without comorbidity differed in performance IQ and CPT scores. ADHD group differed from externalizing disorders group in the information subscore of IQ, MFFT, and CPT scores, and differed in teachers rating scales, the uncommunication factor of CBCL, and CPT card error compared with internalizing disorders group. The authors concluded that inattentive or hyperactive children should be assessed using various instruments to differentiate other disorders and to identify possible presence of comorbid conditions.

• Korean Journal of Biological Psychiatry
• /
• v.5 no.2
• /
• pp.263-277
• /
• 1998

Conventional high-dose antipsychotics tend to result in more side effects, negative symptoms and dysphoria, and at the same time lower the cognitive function which is already impaired in most schizophrenics. Florid psychotic symptoms, negative symptoms and cognitive impairment greatly impede psychosocial performance and eventual reintegration into society. The reduction of symptom and the improvement of cognitive funtions and social skills are therefore central to the psychiatric rehabilitation process. The purpose of this study was to evaluate the dose-reduction effects of antipsychotics on chronic schizophrenics prescribed conventional high-dose antipsychotics more than 1,500mg equivalent of chlorpromazine. Fifty-one chronic schizophrenics who maintained high-dose antipsychotics for more than three months were randomly assigned to two groups : 20 patients comprised the dose-maintaining group and 31 patients made the dose-reduction group. Over a sixteen weekperiod Positive and Negative Syndrome Scale(PANSS), Extrapyramidal Symptom(EPS), Nurses' Observation Scale for Inpatient Evaluation(NOSIE-30), Continuous Performance Test(CPT), Quality of Life(QOL), and haloperidol/reduced haloperidol blood levels were determined at the base line and after 2, 4, 6, 8, 12, 16 weeks to evaluate the dose reduction effects of high-dose antipsychotics. The results were as follows : 1) Dose-reduction is highly effective in reducing positive and negative symptoms, and general psychopathology. Effects were most prominent at 8, 12, 16 weeks. Among the dose reduction group, positive symptoms in positive symptom group and negative symptoms in negative symptom group were more reduced. 2 Extrapyramidal symptoms showed no significant difference between two groups. But the EPS was reduced time after time within two groups. 3) Hit rates of Continuous Performance Test, which indicate attentional capacity, increased significantly after dose reduction. 4) Haloperidol and reduced haloperidol blood levels decreased until the 4th week, after which they were constant. 5) Total scores of Nurses' Observation Scale for Inpatient Evaluation were unchanged between the two groups. But among the indices, social interest and personal neatness were improved in the dose-reduction group and retardation was aggrevated in the dose-maintaining group. 6) Total quality of life scores were unchanged between two groups. But in the dose maintaining group, satisfaction scores of attention, autonomy, and interpersonal relationship decreased progressively. These findings suggest that the dose reduction of antipsychotics for chronic schizophrenics on programs of high-dose antipsychotics were effective. Dose reduction should therefore be implemanted to spread the rehabilitation and improve quality of life for chronic schizophrenics.

• Journal of Dental Anesthesia and Pain Medicine
• /
• v.22 no.3
• /
• pp.205-216
• /
• 2022

Background: People with special needs tend to require diverse behavioral management in dentistry. They may feel anxious or uncomfortable or may not respond to any communication with the dentists. Patients with medical, physical, or psychological disorders may not cooperate and therefore require sedation (SED) or general anesthesia (GA) to receive dental treatment. Using the healthcare big data in Korea, this study aimed to analyze the trends of SED and GA in special needs patients undergoing dental treatment. It is believed that these data can be used as reference material for hospitals and for preparation of guidelines and related policy decisions of associations or governments for special needs patients in dentistry. Methods: The study used selected health information data provided by the Korean National Health Insurance Service. Patients with a record of use of one of the eight selected drugs used in dental SED between January 2007 and September 2019, those with International Classification of Diseases-10 codes for attention deficit hyperactivity disorder (ADHD), phobia, brain disease, cerebral palsy, epilepsy, genetic disease, autism, mental disorder, mental retardation, and dementia were selected. The insurance claims data were analyzed for age, sex, sedative use, GA, year, and institution. Results: The number of special needs patients who received dental treatment under SED or GA from January 2007 to September 2019 was 116,623. Number of SED cases was 136,018, performed on 69,265 patients, and the number of GA cases was 56,308, implemented on 47,257 patients. In 2007, 3100 special needs patients received dental treatment under SED while in 2018 the number of cases increased 6 times to 18,528 SED cases. In dentistry, ADHD was the most common disability for SED cases while phobia was the most common cause of disability for GA. The male-to-female ratio with respect to SED cases was higher for males (M : F = 64.36% : 35.64%). Conclusion: The application of the SED method and GA for patients with special needs in dentistry is increasing rapidly; thus, preparing guidelines and reinforcing the education and system are necessary.

• Clinical and Experimental Pediatrics
• /
• v.48 no.4
• /
• pp.433-437
• /
• 2005

Bezoars are concretions commonly found in the stomach and small bowel, and four types of bezoars have been described based on their composition : trichobezoar, phytobezoar, lactorbezoar, and miscellaneous. Bezoars most often develop after gastric operations that alter the motility, emptying, and grinding of food in the stomach. Trichobezoars are most common in female children with normal gastrointestinal function and are usually associated with pica, mental retardation, and psychiatric disorders. Although uncommon, bezoars are a well-recognized cause of chronic abdominal complaints which, when undiagnosed, can result in serious complications including gastric ulceration, bleeding, perforation, intussusception and small bowel obstruction. Mortality rates of up to 30 percent have been reported in adults. Trichotillomania is behaviors surrounding hair-pulling, including stroking and playing with hair before pulling, or biting and swallowing the hair after it has been pulled(trichophagia). The most notorious of the medical sequelae of trichotillomania is the trichobezoar. We experienced a case of trichobezoar in an 11-year-old girl who frequently swallowed her hairs from age 4 years up to age 7 years, resulting in intermittent abdominal pain, nausea, and vomiting.