Psychological Distress and Perceived Burden in Parents of Korean Children With IgE-Mediated Food Allergy.

BACKGROUND: Food allergy (FA) can have a profound effect on quality of life (QoL), stress, and anxiety in the family. We aimed to validate the Korean version of the Food Allergy Quality of Life-Parental Burden (FAQL-PB) and identify factors related to the parental psychosocial burden of caring for children with FAs. METHODS: Parents of children aged between 6 months and 17 years with immunoglobulin E (IgE)-mediated FAs from the Pediatric Allergy Department of five university hospitals in Korea were enrolled in the study. Parents were asked to complete the FAQL-PB, Food Allergy Independent Measure-Parent Form (FAIM-PF), Child Health Questionnaire-Parents Form 28 (CHQ-PF28), Beck's Anxiety Inventory, Connor-Davidson Resilience Scale, and Patient Health Questionnaire-9 for depression. Statistical analyses included internal consistency, test-retest reliability, concurrent validity, discriminative validity, and logistic regression analyses. RESULTS: A total of 190 parents were enrolled. Social activity limitation was the item with the highest FAQL-PB scores. The Cronbach's α for each item was higher than 0.8. The test-retest reliability was good (intra-class correlation coefficient, 0.716; 95% confidence interval [CI], 0.100-0.935). An increase in the FAQL-PB was significantly associated with an increase in the FAIM-PF (ß = 0.765, P < 0.001) (concurrent validity). There was a positive correlation between parental burden, anxiety, and depression, while resilience was inversely correlated with parental burden (all P < 0.001). The total FAQL-PB score in parents of children who had experienced anaphylaxis was significantly higher than that in parents of children who did not experience it (P = 0.008). When adjusting for age, sex, and underlying diseases, anaphylaxis (ß = 9.32; 95% CI, 2.97 to 15.68), cow's milk (CM) allergy (ß = 8.24; 95% CI, 2.04 to 14.44), soybean allergy (ß = 13.91; 95% CI, 1.62 to 26.20), higher anxiety (ß = 1.05; 95% CI, 0.07 to 1.41), higher depression (ß = 2.15; 95% CI, 1.61 to 2.69), and lower resilience (ß = -0.42; 95% CI, -0.61 to -0.2) were significantly associated with greater parental burden in children with IgE-mediated FAs. CONCLUSION: FAQL-PB is a reliable and valid tool for use in Korea. Anaphylaxis, CM or soybean allergies, more anxiety and depression symptoms, and lower resilience are associated with poorer QoL in parents of children with FAs.

Effect of moderate to severe atopic dermatitis on the prognosis of egg allergy resolution

BACKGROUND: Few studies have examined the effect of atopic dermatitis (AD) on the resolution of food allergies in Asia, and the predictors of egg allergy resolution are not yet well defined. OBJECTIVE: We evaluated whether AD severity could predict the resolution of egg allergy. METHODS: This retrospective cohort study included infants under 24 months of age diagnosed with IgE-mediated egg white allergy. We included subjects who completed a 60-month follow-up. Open oral food challenges (OFCs) and serologic tests were performed at the time of initial diagnosis and at 36 ± 3 and 60 ± 3 months. RESULTS: We analyzed 68 patients (39 boys and 29 girls). OFCs were performed in 88.2% of the patients. The egg allergy remission rates were 23.5% and 47.1% by 3 and by 5 years of age, respectively. Persistent egg allergy was significantly associated with moderate to severe AD and house dust mite sensitization. Kaplan-Meier curve analysis revealed that patients with moderate to severe AD had higher persistent egg allergy rates than patients with no and mild AD (p = 0.012). Multivariable analysis identified moderate to severe AD as strongly associated with persistent egg allergy (p = 0.001). CONCLUSIONS: In this study, 47.1% of infants had resolved egg white allergies at 60 months. Moderate to severe AD may be a practical and important prognostic factor for persistent egg allergy in clinical settings.

Clinical characteristics and treatment response of chronic spontaneous urticaria according to age: A single-center Korean study.

BACKGROUND: Little information exists regarding the incidence of chronic spontaneous urticaria (CSU) or differences in its characteristics according to age. OBJECTIVE: To evaluate the incidence, clinical characteristics and treatment response of CSU according to age. METHODS: The relevance of gender, age, history of allergic disease, pre-diagnosis duration, and treatment response were retrospectively evaluated in patients diagnosed with CSU at Pusan National University Hospital between 2011 and 2018. RESULTS: A total of 970 patients were included in the study, consisting of 198 children and 772 adults. The CSU incidence increased during the study period in children, but not in adults. CSU was more common in adults than in children and the peak age of occurrence was 20-59 years. Increased female incidence was noted in adults, whereas patient and family allergic history was frequently observed in children than in adults. The overall rate of improvement was remarkably higher in children than in adults (P < 0.01), with pre-diagnosis duration and treatment duration both shorter in children than in adults. (P = 0.001). The proportion of men was higher and treatment duration was shorter in adolescence than in the other age groups, whereas the treatment duration was shorter in patients greater or equal to 60 years than in adults under 60 years, and the step 1 treatment rate was higher. CONCLUSIONS: CSU incidence increased annually in children, but not in adults. The clinical characteristics and treatment response of CSU may differ depending on age and clinicians should be made aware of this fact.

Validity and Reliability of the Korean Versions of the Food Allergy Quality of Life Questionnaire-Child Form and Teenager Form.

We aimed to assess the validity and reliability of the Korean versions of the Food Allergy Quality of Life Questionnaire-Child Form (K-FAQLQ-CF) and the Food Allergy Quality of Life Questionnaire-Teenager Form (K-FAQLQ-TF). Patients aged 8-17 years with food allergy (FA) were enrolled and completed the Korean versions of the questionnaires, including the K-FAQLQ-CF, the Food Allergy Independent Measure-Child Form (K-FAIM-CF), and the Pediatric Quality of Life Inventory™ (K-PedsQL™ 4.0) for children and the K-FAQLQ-TF, the Food Allergy Independent Measure-Teenager Form (K-FAIM-TF), and the K-PedsQL™ 4.0 for adolescents. We enrolled 56 children and 23 adolescents in this study. The K-FAQLQ-CF showed a good internal consistency (Cronbach's α coefficient = 0.969) and an excellent test-retest reliability (intraclass correlation coefficient = 0.914, P = 0.011). There was a moderate correlation between the K-FAQLQ-CF and K-FAIM-CF scores (ß = 0.736, P < 0.001), indicating construct validity. The K-FAQLQ-CF score was weakly associated with the K-PedsQL™ 4.0 score (ß = -0.289, P = 0.031), verifying convergent and discriminant validities. The K-FAQLQ-TF also showed a good internal consistency (Cronbach's α coefficient = 0.966) and test-retest reliability (intraclass correlation coefficient = 0.974, P = 0.005). Construct validity was also established by a moderate correlation with the K-FAIM-TF (ß = 0.699, P < 0.001). Our results suggest that the K-FAQLQ-CF and K-FAQLQ-TF are valid and reliable tools to evaluate the quality of life of children and adolescents with FA in Korea.

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability.

BACKGROUND: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID. METHODS: We conducted a retrospective analysis of WES results of children under 19 years of age with unexplained DD/ID between January 2020 and December 2021. The demographic data of all patients and variants identified through WES were evaluated. Furthermore, we evaluated the clinical characteristics that influenced the identification of genetic causes. RESULTS: Forty-one patients with DD/ID were included, of whom 21 (51.2 %) were male. The average age at symptom onset was 1.6 ± 1.3 years, and the duration from symptom onset to diagnosis was 3.1 ± 3.7 years. Hypotonia was the most common symptom (17 patients, 41.5 %), and epilepsy was confirmed in 10 patients (24.4 %). Twenty-two pathogenic/likely pathogenic variants were identified in 20 patients, and three variants of uncertain significance were identified in three patients. Family-based trio Sanger sequencing for candidate variants of 12 families was conducted; 10 variants were de novo, one variant paternally inherited, and two variants compound heterozygous. The diagnostic yield of WES for DD/ID was 48.8 % and was significantly high in patients with an early onset of DD/ID and facial dysmorphism. In contrast, patients with autism spectrum disorder (ASD) were more likely to have negative WES results compared with others without ASD. CONCLUSION: The diagnostic yield of WES was 48.8 %. We conclude that patients' characteristics, such as dysmorphic features and the age of symptom onset, can predict the likelihood that WES will identify a causal variant of a phenotype.

Incidence of congenital hypothyroidism by gestational age: a retrospective observational study.

BACKGRUOUND: Congenital hypothyroidism (CH) is the leading cause of preventable physical and intellectual disabilities. This study aimed to assess the incidence and clinical characteristics of CH in newborns. METHODS: We retrospectively reviewed the medical records of all newborns delivered at the Pusan National University Hospital between January 2011 and March 2021. The incidence of CH was compared according to gestational age, birth weight, and small for gestational age (SGA). The patients aged ≥3 years who could not maintain normal thyroid function and required levothyroxine treatment were diagnosed with permanent CH. Logistic regression analysis was performed to compare CH risks. RESULTS: Of 3,722 newborns, 40 were diagnosed with CH (1.07%). Gestational age and birth weight were significantly associated with CH incidence. The odds ratios (ORs) of CH in infants delivered at 32-37, 28-31, and <28 weeks were 2.568 (95% confidence interval [CI], 1.141-5.778), 5.917 (95% CI, 2.264-15.464), and 7.441 (95% CI, 2.617-21.159) times higher, respectively, than those delivered at term. The ORs of CH in infants weighing 1,500-2,499 g, 1,000-1,499 g, and <1,000 g were 4.664 (95% CI, 1.928-11.279), 11.076 (95% CI, 4.089-29.999), and 12.544 (95% CI, 4.350-36.176) times greater, respectively, than those in infants weighing ≥2,500 g. The OR of CH was 6.795 (95% CI, 3.553-13.692) times greater in SGA than in non-SGA infants. CONCLUSION: The CH incidence in South Korea has increased significantly compared with that in the past. Gestational age, birth weight, and SGA were significantly associated with CH incidence.

Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty.

PURPOSE: The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP). METHODS: The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart. RESULTS: PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups. CONCLUSION: Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.

Quality of Life in Food Allergy: Validation of the Korean Version of the Food Allergy Quality of Life Questionnaire Parent Form (K-FAQLQ-PF) and Risk Factor Analysis.

PURPOSE: This study aimed to evaluate the reliability and validity of the Korean version of the Food Allergy Quality of Life Questionnaire-Parent Form (K-FAQLQ-PF) and to identify clinical characteristics related to low quality of life (QoL) in Korean children with food allergy (FA). METHODS: Parents of 0-12-year-old patients with FA were enrolled. The English version of FAQLQ-PF was translated into Korean. Construct validation was confirmed by the Food Allergy Independent Measure-Parent Form (FAIM-PF) and the Child Health Questionnaire Parent Form 28 (CHQ-PF28). Logistic regression analyses were used to evaluate associations between potential risk factors and QoL outcomes. RESULTS: A total of 182 patients with a median age of 5.0 years were enrolled in the study. Cronbach's α coefficient values indicating internal consistency were higher than 0.8. Intraclass correlation coefficient values for test-retest reliability were good for all age groups (r > 0.6). Total K-FAQLQ-PF scores were positively correlated with the FAIM-PF (r = 0.56, P < 0.05) and were negatively correlated with the parental impact-emotional domain in the CHQ-PF28 (r = -0.44, P < 0.05). In multivariable logistic regression analysis, low QoL was significantly associated with female sex (adjusted odds ratio [aOR], 2.07; 95% confidence interval [CI], 1.03-4.18), age ≥ 5 years (aOR, 2.84; 95% CI, 1.31-6.16), FA diagnosis before the age of 3 years (aOR, 3.96; 95% CI, 1.13-13.93), the presence of atopic dermatitis (aOR, 2.21; 95% CI, 1.07-4.57), and residence in non-metropolitan areas (aOR, 3.44; 95% CI, 1.73-6.85). CONCLUSIONS: According to parental perceptions, the K-FAQLQ-PF is a valid and reliable tool to assess psychosocial QoL in Korean children with FAs. Age, sex, residential area, and comorbid AD can affect the QoL of pediatric patients with FA.

Adult height in girls with central precocious puberty without gonadotropin-releasing hormone agonist treatment: a retrospective case-control study.

BACKGROUND: The primary aim of this study was to investigate the final adult height (FAH) of girls diagnosed with central precocious puberty (CPP) who were untreated. METHODS: We retrospectively analyzed the medical records of 36 girls diagnosed with CPP between 8 and 9 years of age who did not receive treatment, and 206 girls diagnosed with CPP within the same age range who received gonadotropin-releasing hormone (GnRH) agonist treatment. Midparental height (MPH), predicted adult height (PAH) obtained using height and bone age (BA) at the time of diagnosis (PAH for BA), and PAH obtained using the Bayley-Pinneau method (PAH by BP) were calculated. Additionally, height at the time of growth completion was compared with the predicted height. RESULTS: The FAHs were 160.71±4.56 cm in the untreated group and 159.31±4.26 cm in the treated group. In the untreated group, the FAH was 0.99±4.50 cm shorter than the MPH but 4.29±3.33 cm and 3.46±3.93 cm greater than the PAH for BA and PAH by BP, respectively. CONCLUSION: In children diagnosed with CPP between 8 and 9 years of age who were untreated, FAH was greater than PAH for BA and PAH by BP at the time of diagnosis, indicating that the prognosis of FAH was not poor. Therefore, for girls diagnosed with CPP, it is recommended to consider various conditions, such as pubertal onset, height at diagnosis, BA, peak luteinizing hormone level, predicted height, and speed of puberty, when deciding whether to administer GnRH agonists.

Clinical characteristics of drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: A single-center study.

Background: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe adverse cutaneous reactions, most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. Objective: We investigated the differences in clinical characteristics of drug-induced SJS/TEN depending on the type of drug in a single center. Methods: The relevance of sex, age, culprit drugs, clinical features, courses, treatment options, and follow-up results were retrospectively evaluated in patients diagnosed with drug-induced SJS/TEN at Pusan National University Hospital between 2008 and 2019. Results: Ninety-two patients with a mean age of 58.7 ± 20.2 years (range, 10-93 years) were included in the study. Those aged 60-80 years accounted for the largest number of patients (42.4%). Patients with drug-induced SJS/TEN comprised 40 women (43.5%) and 52 men (56.5%). We categorized drug-induced SJS/TEN cases by culprit drugs into 6 groups: antibiotics, allopurinol, antiepileptic (AED), nonsteroidal anti-inflammatory drugs (NSAIDs), acetaminophen, and other drugs. The rate of NSAID-induced disease significantly increased from SJS to TEN (p = 0.016). Among the patients in the NSAID group, the proportion of TEN (40%) was higher than that in the other groups (p = 0.021). The mean body surface area was significantly lower in the AED group than in the non-AED groups (7.1 ± 9.8 vs. 23.1 ± 27.3, p = 0.020) and higher in the NSAID group than in the non-NSAID groups (47.5 ± 39.5 vs. 15.7 ± 20.0, p = 0.010). Conclusion: This study showed that the clinical characteristics of each causative drug group may be different in drug-induced SJS/TEN. Our findings may help clinicians better understand drug-induced SJS/TEN.

Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea.

Background and Objectives: Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). In this study, we report our experiences with the use of CMA in Korean children with unexplained DD/ID. Methods: We performed CMA in a cohort of 308 children with DD/ID between January 2010 and September 2020. We also retrospectively reviewed their medical records. The Affymetrix CytoScan 750 K array with an average resolution of 100 kb was used to perform CMA. Results: Comorbid neurodevelopmental disorders were ASD (37 patients; 12.0%), epilepsy (34 patients; 11.0%), and attention deficit hyperactivity disorders (12 patients; 3.9%). The diagnostic yield was 18.5%. Among the 221 copy number variants (CNVs) identified, 70 CNVs (57 patients; 18.5%) were pathogenic. Deletion CNVs were more common among pathogenic CNVs (PCNVs) than in non-PCNVs (P < 0.001). The size difference between PCNVs and non-PCNVs was not significant (P = 0.023). The number of included genes within CNV intervals was significantly higher in PCNVs (average 8.6; 0-347) than in non-PCNVs (average 47.5; 1-386) (P < 0.001). Short stature and hearing difficulty were also more common in the PCNV group than in the non-PCNV group (P = 0.010 and 0.070, respectively). Conclusion: This study provides additional evidence for the usefulness of CMA in genetic testing of children with DD/ID in Korea. The pathogenicity of CNVs correlated with the number of included genes within the CNV interval and deletion type of the CNVs, but not with CNV size.

Comparison of conservative therapy and steroid therapy for Bell's palsy in children.

PURPOSE: Bell's palsy is characterized by sudden onset of unilateral facial weakness. The use of corticosteroids for childhood Bell's palsy is controversial. This study aimed to identify clinical characteristics, etiology, and laboratory findings in childhood Bell's palsy, and to evaluate the efficacy of corticosteroid treatment. METHODS: We conducted a retrospective analysis of children under 19 years of age treated for Bell's palsy between January 2009 and June 2017, and followed up for over 1 month. Clinical characteristics, neuroimaging data, laboratory findings, treatments, and outcomes were reviewed. Patients with Bell's palsy were divided into groups with (group 1) and without (group 2) corticosteroid treatment. Differences in onset age, sex, laterality, infection and vaccination history, degree of facial nerve palsy, and prognosis after treatment between the groups were analyzed. RESULTS: One hundred patients were included. Mean age at presentation was 7.4±5.62 years. A total of 73 patients (73%) received corticosteroids with or without intravenous antiviral agents, and 27 (27%) received only supportive treatment. There was no significant difference in the severity, laboratory findings, or neuroimaging findings between the groups. Significant improvement was observed in 68 (93.2%) and 26 patients (96.3%) in groups 1 and 2, respectively; this rate was not significantly different between the groups (P=0.48). CONCLUSION: Childhood Bell's palsy showed good prognosis with or without corticosteroid treatment; there was no difference in prognosis between treated and untreated groups. Steroid therapy in childhood Bell's palsy may not significantly improve outcomes.