• Clinical and Experimental Pediatrics
• /
• v.62 no.2
• /
• pp.55-61
• /
• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.11 no.2
• /
• pp.179-186
• /
• 2008

Purpose: Feeding problems are common for typically developing children and have negative effects on physical, behavioral, and cognitive development. The purpose of the current study was to examine factors related to childhood feeding problems for typically developing children via parental reports. Methods: The feeding questionnaire developed by the authors and the Childhood Eating Behavior Inventory (CEBI) were administered to 796 parents of children who recruited from 2 pediatric outpatient clinics (n=379) and community (n=417). Problem eaters (PE) were identified by parental report and frequency analysis was conducted for types of feeding problems and its severity, problem behaviors during mealtime, the feeding methods of the parents, and the need for treatment. Results: The CEBI scores were significantly different between the PE and non-problem eaters (NPE), which suggests that the parental reports were reliable. The younger children had more feeding problems than the older children. The most frequent and severe feeding problems were selective eating and longer mealtimes across all age groups. One-half of the children had more than one problem behaviors during mealtime. Most parents of PE used ineffective methods to deal with children's behaviors during meal time, such as cajoling, which was related to their increased level of stress. Many parents reported their children need professional help for the feeding problems. Conclusion: Feeding problems are prevalent among children, especially younger children. Children with feeding problems showed a number of problem behaviors during mealtime and parental coping methods appeared to be ineffective. The need for treatment was considerable, thus the characteristics of this population must be acknowledged for providing proper treatment and advice.

• Korean Parent-Child Health Journal
• /
• v.3 no.1
• /
• pp.73-94
• /
• 2000

This study was designed to compare the education needs in LBW infant's mother at discharge and after one month at home for development of the educational program. The subjects of this study consisted of 61 mothers of LBW infant's at discharge and 51 mothers of LBW infant's after one month at home. They were selected by convenience from 3 general hospitals and 1 pediatric hospital in Seoul, Kangreung and Inchon. The data were collected during the period from January, 5 to March, 15, 2000. The Education Needs for LBW infant Care was measured by Questionnaire that has developed by researchers. The data were analized by descriptive statistics, non-paired t-test & ANOVA using SAS. The results of this study were as follows: 1) The educational need, of the mothers of LBW infant at discharge were higher than the mothers of LBW infant after one month at home(t=8.72, p=.00). 2) There were significant associations between the educational needs of the mothers of LBW infant after one month at home and numbers of children(F=3.61, p=0.03). 3) There were significant associations of the educational needs between the mothers of LBW infant at discharge and the mothers of LBW infant after one month at home in categories and items. (1) There were significant associations by categories such as Infant care(t=8.34, p=.00), feeding(t=6.71, p=.00), unusual behavior (t=6.54, p=.00). Management disorder (t=8.67, p=.00), attachment between parents and infant(t=5.19, p=.00) and environment (t=6.14, p=.00). (2) There were two items that represented the highest educational needs in all items. That were "How about we can do when infant has a breathing disorder" and "How about we can do when infant has a seizure". These two items included Management of disorder category. In Conclusion, when the nurse teaching the method of infant care to mother, educational contents must be included about Management of disorder emphatically.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.14 no.1
• /
• pp.31-35
• /
• 2018

Dentinogenesis imperfecta is a hereditary disorder that causes abnormal dentin formation and tooth morphology. Affected teeth show very thin dentin and large pulp chamber. Immediately after their eruption, the teeth tend to be destroyed rapidly. Early dental intervention is recommended to improve the feeding capacity and quality of life for the child, to maintain vertical dimension, and to promote healthy and functional dentition. This case report describes a treatment for a 4-year-2-month-old girl whose primary and permanent dentition were affected by Dentinogenesis Imperfecta. Shell teeth were observed in the entire primary dentition. The pulp of most teeth was exposed and the patient complained of pain. Most paternal family members were transferred to the Dentinogenesis Imperfecta. She needed an extensive dental treatment, but her compliance could not be expected because she was very young and anxious. So we decided to treat her under general anesthesia. All molar teeth are restored with Stainless Steel crown. Maxillary anterior teeth were extracted and mandibular anterior teeth are restored with composite resin. The patient's pain disappeared and masticatory function was restored.

• Clinical and Experimental Pediatrics
• /
• v.46 no.11
• /
• pp.1143-1146
• /
• 2003

Rickets is a nutritional disorder which is caused either by deficiency of vitamin D or by a defective activation of vitamin D. In these days, even though the incidence of rickets has decreased through adequate nutritional support, we sometimes experience rickets in babies receiving a prolonged special diet as therapy for chronic diarrhea, or those subject to a in receiving the prolonged elimination of milk because of allergy. But there are no reports about rickets caused by absolute elimination of milk because of allergies in Korea. We report here a case of rickets developed after feeding on Sunsik( a mixture of several grain and fruits powder) during a seven months period in an 8-month-old male patient. This male infant manifested vomiting, poor feeding, decreased serum calcium and 25-hydroxycholecalciferol levels, and markedly increased serum alkaline phosphatase and parathyroid hormone levels. Skeletal X-rays showed cupping and fraying in distal metaphyses of radius and ulna, and generalized osteopenia. The patient improved with vitamin D and calcium therapy.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.116-120
• /
• 2016

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively. We report the case of a female newborn infant who presented with repetitive seizures and episodes of apnea after birth, because of hypoglycemia. Investigations revealed hypoglycemia with hyperinsulinemia, but no ketone bodies, and a low level of free fatty acids. High dose glucose infusion, enteral feeding, and medications could not maintain the patient's serum glucose level. Genetic testing revealed a new variation of ABCC8 mutation. Therefore, we report this case of CHI caused by a novel mutation of ABCC8 in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.

• Journal of Korean Academy of Oral Health
• /
• v.42 no.4
• /
• pp.238-241
• /
• 2018

Williams syndrome is a rare congenital disorder with various physical abnormalities and characterized by facial, oral, and dental features. Individuals with Williams syndrome typically have eating disorders in the early childhood, which lead to prolonged night feeding. Prolonged night feeding is a risk factor for rampant dental caries. Williams syndrome is caused by the microdeletion of chromosome 7, resulting in elastin deficiency. Elastin is integral to cardiovascular health. Many patients with Williams syndrome have complex cardiovascular abnormalities that must be considered a part of dental management. Complications related to cardiovascular diseases may induce adverse effects such as dangerously elevated blood pressure. This may occur in patients during stressful dental treatment. In addition, characteristics of auditory hyperalgesia and anxiety disorders among patients with William syndrome, complicate receiving routine dental management. Therefore, dental treatment under sedation or general anesthesia may be preferable for patients with Williams syndrome; in particular, patients who are very uncooperative and/or needs extensive dental treatment. A thorough evaluation of each patient's physical condition is required before making decisions regarding dental treatment. Careful monitoring and preparation for emergencies are very important during and shortly after dental treatment under general anesthesia or sedation. Monitoring is critical until vital signs have stabilized and return to normal. A 28-month-old man diagnosed as having Williams syndrome, visited the Dental Hospital of ${\bigcirc}{\bigcirc}$ University for the management of rampant dental caries. We reported on the management of this patient who had peripheral pulmonic stenosis, and received dental treatment under general anesthesia. We also reviewed the characteristics of Williams syndrome and discussed considerations for dental treatment under general anesthesia.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.23 no.5
• /
• pp.447-456
• /
• 2020

Purpose: Food insecurity, which is the inability to obtain food or inadequate food consumption in terms of quality and quantity, has physical and psychological consequences on children's health. This study aimed to investigate the relationship between children's growth disorders and food insecurity in Qazvin city, Iran. Methods: A case-control study was conducted on 177 cases and 355 controls of children aged 3 to 6 years, who were referred to health centers in Qazvin city. The case group consisted of children with growth disorders. Data were obtained with the 18-item US Department of Agriculture questionnaire, a household socioeconomic questionnaire, a and growth monitoring card. The data were analyzed with using IBM SPSS Version 22.0, by independent sample t-test, chi-square test, and logistic regression. Results: A significant relationship was found between children's growth disorders and household food insecurity with (p<0.05, odds ratio [OR]=17.0, confidence interval [CI]=5.9, 48.8) and without hunger (p<0.05, OR=2.69, CI=1.4, 4.9). There were also significant relationships between children's growth disorders and socioeconomic status (p<0.05, OR=3.4, CI=1.4, 8.5), the duration of breastfeeding (p<0.05, OR=0.94, CI=0.9, 0.98), and children's ages (p<0.05, OR=0.94, CI=0.92, 0.96). Sex and birth order, and the age of the parents was not found to be significantly related with growth disorders. Conclusion: Lower socioeconomic status and household food insecurity were the important predictors of children's growth disorders. Policymakers should focus more on promoting steady employment and income among family members. Nutritional education for mothers is also recommended, in order to better meet the nutritional needs of the children.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.25 no.5
• /
• pp.432-440
• /
• 2022

Purpose: Eating disorders often result in somatic complications, including cardiac abnormalities. Cardiac abnormalities may involve any part of the heart, including the cardiac conduction system, and can lead to sudden cardiac death. The current study aimed to evaluate the incidence of cardiac complications in pediatric patients with eating disorders and their associated factors. Methods: We retrospectively analyzed patients aged 10-18 years who were diagnosed with DSM-V (Diagnostic and Statistical Manual of Mental Disorder-V) eating disorders and underwent electrocardiography (ECG) and/or echocardiography between January 2015 and May 2020. Results: In total, 127 patients were included, of whom 113 (89.0%) were female. The median body mass index (BMI) was 15.05±3.69 kg/m². Overall, 74 patients (58.3%) had ECG abnormalities, with sinus bradycardia being the most common abnormality (91.9%). Patients with ECG abnormalities had significantly lower BMI (14.35±2.78 kg/m² vs. 16.06± 4.55 kg/m², p<0.001) than patients without ECG abnormalities, as well as lower phosphorus and higher cholesterol levels. Among the 46 patients who underwent echocardiographic evaluation, 23 (50.0%) had echocardiographic abnormalities, with pericardial effusion being the most common (60.9%). The median left ventricular mass (LVM) and ejection fraction were 67.97±21.25 g and 66.91±28.76%, respectively. LVM and BMI showed a positive correlation (r=0.604, p<0.001). After weight gain, the amount of pericardial effusion was reduced in 3 patients, and 30 patients presented with normal ECG findings. Conclusion: Cardiac abnormalities are relatively frequent in patients with eating disorders. Physicians should focus on this somatic complication and careful monitoring is required.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.11 no.2
• /
• pp.116-121
• /
• 2008

Purpose: Cricopharyngeal incoordination is a rare cause of swallowing difficulties in newborns and infants; it is characterized by delayed pharyngeal contractions related to cricopharyngeal relaxation. Dysphagia and repeated aspiration are common findings despite normal sucking. We conducted this study to assess the clinical features of cricopharyngeal incoordination in newborns and infants. Methods: An analysis of the clinical data from 17 patients with cricopharyngeal incoordination who were admitted to the Department of Pediatrics, Pusan National University Hospital, between 2000 and 2006 was conducted retrospectively. The diagnosis of cricopharyngeal incoordination was established by the clinical characteristics and the videofluoroscopic swallowing studies. Results: The male to female ratio was 1:1.1 (males 8, females 9) the age range 1 to 60 days. The body weight of 11 patients (64.7%) was less than the $10^{th}$ percentile at diagnosis. Six patients (35.3%) were born prematurely. The associated anomalies or diseases were chromosomal anomaly (2 cases), congenital heart disease (3 cases), and laryngomalacia, hypoxic brain damage or neonatal seizures (1 case each). The chief complaints of patients were recurrent aspiration pneumonia (10 cases), feeding difficulty (9 cases), dyspnea (4 cases), and chocking (4 cases). The severity of aspiration on the videoesophagogram or esophagogram was mild in 12 cases. The correlation between the severity of aspiration and the duration of tube feeding after the diagnosis was significant (p<0.05). Conclusion: Cricopharyngeal incoordination should be considered in the differential diagnosis of newborns and infants, without known risk factors associated with swallowing dysfunction, when they present with unexplained respiratory problems. Although the prognosis of cricopharyngeal incoordination is good, early diagnosis and tube feeding are recommended to prevent the complications associated with this disorder.