• Title/Summary/Keyword: Developmental disability

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A Case of Cecal Volvulus Presenting with Chronic Constipation in Lissencephaly

  • Lee, Eun-Kyung;Kim, Ji Eun;Lee, Yun-Young;Kim, Saeyoon;Choi, Kwang Hea
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.16 no.2
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    • pp.131-134
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    • 2013
  • Cecal volvulus is uncommon in pediatric patients and there are few reports of cecal volvulus with cerebral palsy. Here, we report the case of a 19-year-old male patient who presented with abdominal distension, a history of cerebral palsy, refractory epilepsy due to lissencephaly, and chronic constipation. An abdominal x-ray and computed tomography without contrast enhancement showed fixed dilated bowel intensity in the right lower abdomen. Despite decompression with gastric and rectal tube insertion, symptoms did not improve. The patient underwent an exploratory laparotomy that revealed cecal volvulus. Cecal volvulus usually occurs following intestinal malrotation or previous surgery. In this patient, however, intestinal distension accompanying mental disability and chronic constipation resulted in the development of cecal volvulus. We suggest that cecal and proximal large bowel volvulus should be considered in patients presenting with progressive abdominal distension combined with a history of neuro-developmental delay and constipation.

Burden and Social Support of Mothers with Cerebral Palsy Children (뇌성마비 환아 어머니의 사회적 지지와 부담감)

  • Kim, Eun-Sook;Kim, Hee-Soon
    • The Korean Journal of Rehabilitation Nursing
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    • v.12 no.1
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    • pp.39-46
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    • 2009
  • Purpose: The purpose of this study was to identify the level of burden and social support of mothers with Cerebral Palsy (CP) children, and to determine whether providing social support is an effective strategy to relieve the burden of those mothers. Method: From October to November 2007, the data were collected from 63 mothers with CP children who were admitted and treated for CP at Y rehabilitation center in Seoul. The data were analyzed with t-test, ANOVA, Scheffe's test, Pearson's Correlation Coefficient, and Stepwise Multiple Regression using SPSS 12.0. Results: Burden of mothers was related to the Gross Motor Function Classification System (GMFCS) of the CP children. Social support was negatively correlated and GMFCS was positively correlated with burden of mothers. Social support and GMFCS was statistically significantly related with burden of mothers with CP children by multiple regression analysis. Conclusion: There was a significantly negative correlation between social support and burden. It demonstrated that social support, an important factor relating to burden imposed on mothers of CP children, can be considered as an intervening variable which can contribute to decrease of burden. In addition, applying developmental screening measures are needed to decrease disability severity.

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Clinical characterization of a Korean case with 3p25 deletion

  • Lee, Hye Jin;Kim, Ja Hye;Cho, Ja Hyang;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.11 no.1
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    • pp.36-39
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    • 2014
  • Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

소아암 환아의 영적 케어

  • Sin, Min-Seon
    • Korean Journal of Hospice Care
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    • v.5 no.2
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    • pp.54-63
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    • 2005
  • The purpose of this study is to examine the requirement for child life support specialist and fetal education for children with cancer. This research presented was composed with three chapters : First chapter, I presented the purpose, scope and definitions of this research. Second chapter, I defined about hospice care service for children with cancer and kind of pediatric cancer. And general characteristics of children with cancer, a understanding character of death and dietary therapy. Lastly, I defined and investigated about spiritual care. Third chapter, I concluded with some of findings and final suggestions based on the results. According to the developmental stages children with cancer are disability of communication competence and more dependence on their parents, therefore parents' decision making were more difficulty. And parents with a child who suffers from a cancer needs a counseling in order to discover the meaning of life. Parents' psychological experience about the caring for their child suffering from pediatric cancer was equal to broken hearts due to shadow of the child's death from time to time. In other words a parents with a child who suffers from a cancer needs comprehensive services such as hospice, consultor as well as wide experienced pediatrician and nurse. Child life support specialist can help them recover and improve their o주 potential strength in behalf of overcoming their difficulties. And pastoral counseling can help them reduce the fear and anxiety about unknown world and death. The systematically developed a school-based counseling program would help children adjust to the difficulties after a perfect cure because of children adjusted to school well when they have good peer relationships.

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A Normative Review on Non-Invasive Prenatal Diagnosis (NIPD): Focusing on the German Discussion on PrenaTest®

  • Kim, Na-Kyoung
    • Development and Reproduction
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    • v.25 no.2
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    • pp.113-121
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    • 2021
  • This article aims to introduce German discussion on the approval of the non-invasive prenatal diagnosis (NIPD), which started with the development of PrenaTest® by LifeCodexx AG. The discussion started with the concern that the non-invasive nature of NIPD, such as PrenaTest®, may rapidly expand the use and scope of similar tests, thus leading to a new era of eugenics. Based on this concern, the need for clear clinical guidelines on specific indications for NIPD has been suggested. Along the same line, it was discussed whether PrenaTest® is against the Basic Law prohibiting discrimination on grounds of disability and whether the test is outside the scope of the purpose of gene testing limited by Genetic Diagnosis Act. Through such discussion, the Federal Ministry of Health of Germany established the preconditions for inclusion of NIPD in the German public health insurance system. For this, the German motherhood guideline was amended and the information for the insured persons provided to pregnant women was included in the amended guideline. Such discussion made in Germany provides insight on which points should be considered when various gene testings are accepted in Korea, in which genetic communication has not been systematized yet. In particular, German counseling system for pregnant women will provide valuable insights for Korea where the direction for regulations on abortion has not been established even after the ruling by the Constitutional Court that charges for abortion are against the constitution.

Growth Hormone Therapy in PWS with Mobile Application-Living with PWS

  • Im, Minji
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.4 no.2
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    • pp.42-44
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    • 2018
  • Prader-Willi syndrome (PWS) is a multisystemic complex disorder characterized by hyperphagia and impaired satiety which lead to severe and early obesity. In infancy, hypotonia and poor suck are main problems, and a child goes through Failure-to-thrive. During childhood, clinical manifestations change to food seeking as well as excessive weight gain, short stature, developmental delay, cognitive disability and behavioral problems. Also, growth hormone insufficiency is frequent. Most patients receive the recombinant growth hormone (rGH) therapy that provides improvement in growth, body composition, and physical attributes. The clinical care guideline for rGH therapy in PWS had been noticed in 2013. The rGH therapy helps in body fat, lean body mass, height SDS and head circumference. Also, the rGH therapy helps motor function, psychomotor development and cognition and behavioral issues.In Samsung medical center, there are clinical care guidelines for rGH therapy in PWS and an useful application for the patients. 'Living with PWS', the name of an moblie application for PWS patients, was introduced in the lecture. The application revised to version 2. It was made more convenient to users than in version 1. It helps caregivers to schedule the rGH therapy and to monitor height and weight.

A Conceptual Study of "Mai (脉)" in Gangpyeong-Shanghanlun Based on Comparative case analysis and Paleography (『강평상한론(康平傷寒論)』 맥(脉)에 관한 고찰: 임상 증례 분석 및 고문자학적 해석을 통하여)

  • Seong-hwan Cho;Hyun-yee Ha;Hyo-joong Yun;Jae-kyung Park;Joo Heo;Sung-jun Lee
    • 대한상한금궤의학회지
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    • v.15 no.1
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    • pp.1-52
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    • 2023
  • Objective : The objective of this study was to explore the meaning of Mai (脉) in the fifteen letters provisions of Gangpyeong-Shanghanlun through the comparative analysis of 10 cases and paleography. Methods : We have collected 10 cases that have been diagnosed and treated by Gangpyeong-Shanghanlun Mai (脉) provision. And then, comparative analysis has been done among those 10 cases. Based on result of case analysis, paleographic meaning of each Mai (脉) have been studied to redefine Gangpyeong-Shanghanlun Mai (脉)'s meaning. Results : After administration of Mai (脉) provision's herbal medicine, all 10 patients recovered their mobility problem and pain. From this result, we could fomulate the hypothesis that Mai (脉) in Gangpyeong-Shanghanlun could mean mobility problems. After through further paleography studies, we could elaborate each Mai (脉)'s clinical meaning and related diseases. Conclusions : Mai (脉) in Gangpyeong-Shanghanlun could mean mobility problems caused by various diseases, which include musculoskeletal pain, neuropathy, syncope, fatigue, developmental disability and major depressive disorder.

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The Effect of Group Sensory Integration Therapy on Motor Skill and Social Function of Children With Developmental Disorder (그룹 감각통합치료가 발달장애 아동의 운동기능 및 사회성 증진에 미치는 영향)

  • Han, Mi-Yea;Chang, Ki-Yeon;Kim, Ji-Youn;Han, Su-Yeon
    • The Journal of Korean Academy of Sensory Integration
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    • v.7 no.2
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    • pp.23-35
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    • 2009
  • Objective : The purpose of this study is to understand whether group Sensory Integration(SI) therapy has the effect on improvement of motor skill and social function for children with developmental disorder. Method : The subjects were recruited among children received sensory integration therapy at a Children's Development Institute in Dae-Jeon, experimental group is total 5 participating in group sensory integration therapy and control group is also 5 participating in individual sensory integration therapy. The program was constructed for 90 minutes and all children either in the experimental or in the control group went through intervention for 20 weeks. Bruininks-Oseretsky test of Motor Proficiency II, Korean-Scales of Independent Behavior-Revised and Social Maturity Scale were used in order to evaluate the degree of improvement in motor skill and social function. Results : Most children in the experimental group showed improvement in overall aspects of motor skill and the social function comparing pre-intervention with post-intervention, but they did not show any statistically significant differences. However, comparing experimental group with control group, children in the experimental group showed improvement in motor skill and social function. Furthermore, there is statistically significant improvement especially in manual coordination, manual dexterity, and social age and social quotient in Behavior-Revised and Social Maturity Scale. Conclusions : It is found that a group Sensory Integration therapy program has effect on motor skill and social function for children with developmental disorder in this study. In the future study, group SI therapy should be applied for children with diverse diagnosis in order to generalize the effectiveness of therapy.

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STANDARDIZATION OF WORD/NONWORD READING TEST AND LETTER-SYMBOL DISCRIMINATION TASK FOR THE DIAGNOSIS OF DEVELOPMENTAL READING DISABILITY (발달성 읽기 장애 진단을 위한 단어/비단어 읽기 검사와 글자기호감별검사의 표준화 연구)

  • Cho, Soo-Churl;Lee, Jung-Bun;Chungh, Dong-Seon;Shin, Sung-Woong
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.14 no.1
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    • pp.81-94
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    • 2003
  • Objectives:Developmental reading disorder is a condition which manifests significant developmenttal delay in reading ability or persistent errors. About 3-7% of school-age children have this condition. The purpose of the present study was to validate the diagnostic values of Word/Nonword Reading Test and Letter-Symbol Discrimination Task for the purpose of overcoming the caveats of Basic Learning Skills Test. Methods:Sixty-three reading-disordered patients(mean age 10.48 years old) and sex, age-matched 77 normal children(mean age 10.33 years old) were selected by clinical evaluation and DSM-IV criteria. Reading I and II of Basic Learning Skills Test, Word/Nonword Reading Test, and Letter-Symbol Discrimination Task were carried out to them. Word/Nonword Reading Test:One hundred usual highfrequency words and one hundred meaningless nonwords were presented to the subjects within 1.2 and 2.4 seconds, respectively. Through these results, automatized phonological processing ability and conscious letter-sound matching ability were estimated. Letter-Symbol Discrimination Task:mirror image letters which reading-disordered patients are apt to confuse were used. Reliability, concurrent validity, construct validity, and discriminant validity tests were conducted. Results:Word/Nonword Reading Test:the reliability(alpha) was 0.96, and concurrent validity with Basic Learning Skills test was 0.94. The patients with developmental reading disorders differed significantly from normal children in Word/Nonword Reading Test performances. Through discriminant analysis, 83.0% of original cases were correctly classified by this test. Letter-Symbol Discrimination Task:the reliability(alpha) was 0.86, and concurrent validity with Basic Learning Skills test was 0.86. There were significant differences in scores between the patients and normal children. Factor analysis revealed that this test were composed of saccadic mirror image processing, global accuracy, mirror image processing deficit, static image processing, global vigilance deficit, and inattention-impulsivity factors. By discriminant analysis, 87.3% of the patients and normal children were correctly classified. Conclusion:The patients with developmental reading disorders had deficits in automatized visuallexical route, morpheme-phoneme conversion mechanism, and visual information processing. These deficits were reliably and validly evaluated by Word/Nonword Reading Test and Letter-Symbol Discrimination Task.

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SELF-INJURIOUS BEHAVIOR IN A PATIENT WITH AUTISM : A CASE REPORT (자폐 환자의 자해로 인한 구강 내 손상 : 증례 보고)

  • Ji, Eun-Hye;Lee, Hyo-seol;Choi, Hyung-Jun;Kim, Seong-Oh;Choi, Byung-Jai;Son, Heung-Kyu;Lee, Jae-Ho
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.8 no.1
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    • pp.10-14
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    • 2012
  • Self-injurious behavior (SIB) has been defined as the deliberate destruction or alteration of body tissue without conscious suicidal intent. It occurs in conjunction with a variety of psychiatric disorders as well as various developmental disabilities and some syndromes. The behavior is destructive and causes concern and distress to all involved in the care and treatment of the affected individual. A 13-year-old girl with autism, mental retardation and delayed development was reffered from her pediatrician because of severe and painful lower lip biting. An intraoral examination revealed a diffuse swelling of lower lip. It was covered with necrotic slough and the ulcer and scarring of the lower lip was observed. We chose to use an oral removable prosthesis for Conservative treatment. It was decided to use a soft silicone mouthguard in the maxillary arch. Initially, she could not tolerate the appliance inside her mouth but soon adapted with the appliance. After one month, she lost the mouth guard and started lip biting. So we made mouth guard again. There are no standard methods for preventing self-injurious behavior in a patient who is developmentally disabled. Appropriate preventive methods must be developed for each individual patient based on close observation and clinical findings. Behavior modification techniques, pharmacological treatment, extraction of teeth, orthognathic surgery and intra/extra oral appliances can be performed for adjust self-injurious behavior. A suitable oral guard could be tried initially before employing more invasive approaches.