Objectives: The purpose of this study was to develop a screening tool that is simple and easy to use for assessing sleep problems, including hypersomnolence, restless legs syndrome, and insomnia. We also examined the reliability and validity of this tool. Methods: We developed the Sleep Problem Screening Questionnaire (SPSQ), which consists of three sub-sections: insomnia (SPSQi), hypersomnolence (SPSQh), and restless legs syndrome (SPSQr). Subsequently, the participants, consisting of 222 patients with insomnia disorder and 78 healthy individuals, completed both the SPSQ and the comparative scale (Korean version of the Insomnia Severity Index). The analysis was then conducted using this data. Results: The SPSQ demonstrated good convergent and discriminant validity, as well as satisfactory internal consistency. A cutoff score of 6 on the SPSQi was found to be optimal for distinguishing individuals with insomnia. Conclusion The results of this study suggest that the SPSQ is a reliable and valid tool for screening sleep problems among general adult population. However, there is a limitation as a comparison and validation with scales related to restless legs syndrome and hypersomnolence were not conducted.

Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.

Background and Objectives: It is well recognized that early detection and intervention are most important for the prevention of neonatal hearing loss. The national support policy in Korea for newborn hearing screening has been changed since October 2018; however, parent awareness of the change still needs to be increased. This study investigated how well parents, who have underwent national infant checkups of their children, were aware of the Korean national policy for neonatal and infant hearing loss in parents.Subjects and Method A survey of neonatal hearing tests and national support policies conducted for 353 parents was analyzed. The survey included questions about parent awareness of the neonatal hearing screening test period, confirmatory test period, national support for these expenses, and hearing aid support. Also evaluated were the necessity of national guidance and management system for neonatal hearing. Results: The test time of neonatal hearing screening was correctly recognized by 82.2% of the parents. The percentage increased after the national insurance coverage started in October 2018 in Korea, and the rate was higher for parents who visited an otolaryngology clinic rather than a pediatric clinic. The test time of the confirmatory test was correctly recognized only by 20.4%. National support policy for neonatal hearing screening tests, confirmatory hearing tests, and hearing aids were acknowledged by 50.7%, 43.1%, and 56.1% of the parents, respectively. Conclusion These results indicate the necessity of efforts to increase the awareness of neonatal hearing tests and relevant support policies in Korea to ultimately achieve early hearing detection and intervention of neonates and infants in Korea.

Objective: Precocious puberty is the adrenarche that occurs before the age of 8 in girls. Gonadotropin-releasing hormone stimulation test (GnRH stimulation test), which is widely used in diagnosing precocious puberty, is commonly used to evaluate the activity of the hypothalamus-pituitary-gonad axis, but it has the disadvantages of low sensitivity and laborious blood sampling process. On the other hand, pelvic ultrasonography has the advantage of being inexpensive and easy to test. The purpose of this study was to investigate the usefulness of pelvic ultrasonography for the diagnosis of precocious puberty and whether there is a significant relationship between the GnRH stimulation test and ultrasonography findings. Methods: From January 2016 to September 2021, a total of 234 girls with precocious puberty who visited the Soonchunhyang University Seoul Hospital were subjected to pelvic ultrasonography. Results: The size of both ovaries in the group with a peak luteinizing hormone (LH) value of 10 IU/L or higher in the GnRH stimulation test was significantly larger than that of the group with a peak LH value of less than 7 IU/L. A group with a peak LH value of 10 IU/L or higher in the GnRH stimulation test had 0.63 cm and 0.9 cm significantly larger uterus size than that of the other two groups. Conclusion Uterus and ovary sizes have a positive correlation with peak LH values in the GnRH stimulation test. Pelvic ultrasonography is considered to be a useful test for estimating precocious puberty without causing much discomfort to the child.

Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous disorder in children and adolescents. Recently, there have been some data concerning the prevalence of POTS in adults. However, current studies on POTS in children and adolescents are rare. Thus, many young patients with POTS are misdiagnosed with migraine or other diseases.Current Concepts: The diagnosis and treatment of POTS differ between pediatric and adult patients. POTS in children and adolescents is diagnosed with chronic symptoms of orthostatic intolerance, such as a heart rate rise of 40 beat per minute (bpm) or a heart rate exceeding 130 bpm without orthostatic hypotension. There are three major POTS categories: hypovolemic POTS, neuropathic POTS, and hyperadrenergic POTS. These categories are distinguished by their major mechanisms. The different subtypes of POTS in children and adolescents have their own clinical characteristics and laboratory findings.Discussion and Conclusion: Treatment of POTS in children and adolescents should always include lifestyle changes, nutritional adjustments, exercise, and drugs depending on the different subtypes of POTS.

Pituitary stalk interruption syndrome (PSIS) manifests as an isolated or combined pituitary hormone deficiency (CPHD) and is usually diagnosed by magnetic resonance imaging (MRI). We describe a patient with PSIS who presented with central hypothyroidism. The patient was born at 35 weeks’ gestation and weighed 1,980 g. Newborn screening test including thyroid-stimulating hormone (TSH) were normal; however, follow-up tests revealed low serum free thyroxine and mildly elevated TSH levels. Thyroid hormone replacement was initiated on the 29th day of birth. At 13-month-old age, the TRH stimulation test showed a delayed and prolonged increase in serum TSH levels, suggesting tertiary hypothyroidism. The combined pituitary stimulation test revealed CPHD and hyper-responsiveness of prolactin to TRH, suggesting hypothalamic-pituitary disconnection. MRI of the pituitary gland revealed the absence of the pituitary stalk, a small anterior pituitary, and an ectopic posterior pituitary located in the hypothalamic area. Replacement therapies with corticosteroid and growth hormone were initiated and then she reached catch-up growth. The TRH stimulation test can be helpful for diagnosing central hypothyroidism, which may be an early presentation of PSIS. Therefore, patients with central hypothyroidism should be considered for PSIS, thereby patients can be treated earlier and reach normal growth and development.

BACKGROUND: Automated cellular analyzers are expected to improve the analytical performance in body fluid (BF) analysis. We evaluated the analytical performance of three automated cellular analyzers and established optimum reflex analysis guidelines. METHODS: A total of 542 BF samples (88 cerebrospinal fluid [CSF] samples and 454 non-CSF samples) were examined using manual counting and three automated cellular analyzers: UniCel DxH 800 (Beckman Coulter), XN-350 (Sysmex), and UF-5000 (Sysmex). Additionally, 2,779 BF analysis results were retrospectively reviewed. For malignant cell analysis, the receiver operating characteristic (ROC) curve was used, and the detection of high fluorescence-BF cells (HF-BFs) using the XN-350 analyzer was compared with cytology results. RESULTS: All three analyzers showed good agreement for total nucleated cell (TNC) and red blood cell (RBC) counts, except for the RBC count in CSF samples using the UniCel DxH 800. However, variable degrees of differences were observed during differential cell counting. For malignant cell analysis, the area under the curve was 0.63 for the XN-350 analyzer and 0.76 for manual counting. We established our own reflex analysis guidelines as follows: HF-BFs <0.7/100 white blood cells (WBCs) is the criterion for quick scans with 100× magnification microscopic examination as a rule-out cut-off, while HF-BFs >83.4/100 WBCs or eosinophils >3.8% are the criteria for mandatory double check confirmation with 1,000× magnification examination. CONCLUSIONS The three automated analyzers showed good analytical performances. Application of reflex analysis guidelines is recommended for eosinophils and HF-BFs, and manual confirmation is warranted.

Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063*, respectively) and we consider the nonsense mutation as ‘pathogenic variant’. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke’s cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

CHARGE syndrome is a rare genetic disorder with CHD7 gene mutation. CHARGE is an acronym for coloboma (C), heart disease (H), atresia of choanae (A), retardation of growth (R), genitourinary malformation (G), and ear abnormalities (E). Patients with CHARGE syndrome need to undergo many surgeries due to their various congenital anomalies. Since airway abnormalities frequently accompany CHARGE syndrome, general anesthesia remains a challenge. Here we report a case of difficult intubation in a 35-month-old boy with CHARGE syndrome during general anesthesia and the experience of successful intubation using D-blade of C-MAC® video laryngoscope.
Airway Management ; Anesthesia, General ; CHARGE Syndrome* ; Child* ; Child, Preschool ; Coloboma ; Ear ; Heart Diseases ; Humans ; Intubation* ; Laryngoscopes* ; Male ; Nasopharynx ; Pediatrics