• 대한유전성대사질환학회지
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• 제22권1호
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Childhood Kidney Diseases
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• 제16권1호
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• pp.9-14
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• 2012

The relationship between central nervous system (CNS) and enuresis has not been sufficiently elucidated despite the presence of several circumstantial evidences. Contrary to common belief, polysomnographic sleep analysis revealed that the disturbance of arousal rather than deep sleep was responsible for enuresis. Subsequent studies confirmed depressed sympathetic tone and retarded brainstem reflex indicating abnormal arousal threshold in enuretics. In accordance with the bladder-brain dialogue, chronic stimulation of bladder may modify the brainstem function elevating arousal threshold. Epidemiological studies have suggested the association between enuresis and various psychosomatic disorders like attention deficit hyperactivity disorder (ADHD), which has shown the abnormal brainstem reflex similar to enuresis. Taken together, CNS is assumed to play a crucial role in the pathogenesis of enuresis. Psychological assessment is vital to understand the psychodynamic effect of enuresis. Studies have shown that the prevalence of psychological problems was higher in enuretic children and externalization of the symptoms was usually found. Several explanations have been brought up regarding the development of enuresis and psychological problems. Enuresis may cause psychological problems and vice versa. Otherwise, both may be associated with other variables, such as socioeconomic status (SES).

• 생물정신의학
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• 제16권1호
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• pp.25-36
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• 2009

Objectives : The aim of this study was to investigate the association between Korean ADHD patients and the l/s polymorphism of serotonin transporter(5-HTTLPR). Methods : The study sample consisted of 189 Korean ADHD children diagnosed by Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version(K-SADS-PL), both parents of ADHD children, and 150 normal children. DNA were extracted from the blood of all samples, and genotyping was done. Based on the allele and genotype information, not only the case-control analysis between ADHD and normal children but also the family-based association test among ADHD children and their parents. Transmission disequilibrium test(TDT) were performed for family-based associated test(number of trio=113). The results of the clinical rating and neuropsychological tests were compared according to the l/s genotype of ADHD children. Results : In case-control analysis, there were no statistically significant difference of l/s gene polymorphism between ADHD and normal children in various kinds of analysis condition. In family-based association study, TDT failed to detect linkage disequilibrium between l/s gene polymorphism and ADHD in whole ADHD families. However, in the families of ADHD inattentive type only(number of trio=23), I allele was transmitted more preferentially in the proband with ADHD even if the number of families was small(${\chi}^2$=4.57, p=.032). In the analysis of the results from the clinical scales and neuropsychological tests in ADHD children, the score of the Novelty- Seeking of ADHD children with l/l genotype was significantly lower than with the other genotypes(F=3.15, p=.047), and that of Self Transcendence was significantly higher(F=4.25, p=.017). Conclusion : The results of this study suggest there were no significant genetic association between the 5- HTTLPR gene polymorphism and Korean ADHD.

• Molecules and Cells
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• 제38권6호
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• pp.540-547
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• 2015

Attention deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders, affecting approximately 5% of children. However, the neural mechanisms underlying its development and treatment are yet to be elucidated. In this study, we report that an ADHD mouse model, which harbors a deletion in the Git1 locus, exhibits severe astrocytosis in the globus pallidus (GP) and thalamic reticular nucleus (TRN), which send modulatory GABAergic inputs to the thalamus. A moderate level of astrocytosis was displayed in other regions of the basal ganglia pathway, including the ventrobasal thalamus and cortex, but not in other brain regions, such as the caudate putamen, basolateral amygdala, and hippocampal CA1. This basal ganglia circuit-selective astrocytosis was detected in both in adult (2-3 months old) and juvenile (4 weeks old) $Git1^{\check{s}/\check{s}}$ mice, suggesting a developmental origin. Astrocytes play an active role in the developing synaptic circuit; therefore, we performed an immunohistochemical analysis of synaptic markers. We detected increased and decreased levels of GABA and parvalbumin (PV), respectively, in the GP. This suggests that astrocytosis may alter synaptic transmission in the basal ganglia. Intriguingly, increased GABA expression colocalized with the astrocyte marker, GFAP, indicative of an astrocytic origin. Collectively, these results suggest that defects in basal ganglia circuitry, leading to impaired inhibitory modulation of the thalamus, are neural correlates for the ADHD-associated behavioral manifestations in $Git1^{\check{s}/\check{s}}$ mice.

• Childhood Kidney Diseases
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• 제18권2호
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• pp.71-76
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• 2014

목적: 주의력결핍 과잉운동장애(ADHD)는 소아에서 3-5%의 유병률을 보이며 전두엽의 억제기전 저하와 대뇌의 카테콜라민 대사이상이 관련된다고 알려져 있다. ADHD 환아에서 야뇨증을 비롯한 다양한 하부요로계 증상을 동반한다는 보고가 있지만 국내에서는 ADHD 환아들에 대한 보고가 없기에 저자들은 ADHD 환아에서 배뇨증상을 알아보기 위해 본 연구를 시행하였다. 방법: 2009년 10월부터 2011년 3월까지 DSM-IV 진단기준에 근거하여 ADHD로 진단받은 33명의 환아들과 같은 기간 동안 신경계 질환이나 요로계 질환 없이 상기도 감염으로 외래를 내원한 환아 30명을 대상으로 배뇨와 배변에 대한 설문지를 시행하였다. 결과: ADHD 환자군의 평균 연령은 $9.09{\pm}2.8$세(남 28: 여 5) 이었고, 대조군의 평균 연령은 $8.58{\pm}3.1$ (남 20: 여 10) 이었다. ADHD 환아군에서 대조군에 비해 요절박(P=0.017), 절박 요실금(P=0.033), 변비(P=0.045)의 유병률이 대조군에 비해 유의하게 높았고, 복압배뇨, 간헐뇨, 배뇨지연 행동에는 두 군간에 유의한 차이가 없었다. 야뇨증은 ADHD 환아군에서 12.1% (4/33)로 대조군의 0%에 비해 많았지만 통계학적인 유의성은 없었다. 결론: ADHD 환아는 대조군에 비해 요절박, 절박 요실금과 변비의 유병률이 유의하게 높았다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제33권3호
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• pp.67-72
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• 2022

Objectives: This study investigated the reliability and validity of the Korean version of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) Level 2 Cross-Cutting Symptom Measure-Patient-Reported Outcomes Measurement Information System (PROMIS)-Depression and the Irritability for parents of children aged 6-17 years. Methods: Participants were 190 children diagnosed with depressive disorder (n=14), anxiety disorder (n=21), attention-deficit/hyperactivity disorder (ADHD; n=111), ADHD with anxious depression (n=13), and tic disorder with somatic symptoms (n=31). Patients were 8-15 years of age. The participants' mothers completed the Korean versions of the DSM-5 Level 2 Cross-Cutting Symptom Measure-PROMIS Depression and Irritability (Affective Reactivity Index, ARI), and the Korean Child Behavior Checklist (K-CBCL). Using these data, we calculated the reliability coefficient and examined the concurrent and discriminant validity of the PROMIS Depression and the Irritability (ARI) scales for assessing depression and irritability in children. Results: The reliability coefficient of the PROMIS Depression scale (Cronbach's α) was 0.93. The correlation coefficient with the K-CBCL DSM emotional problem score was 0.71. The PROMIS Depression scale significantly discriminated children with depressive disorders from those with other conditions. The reliability coefficient of the Irritability (ARI) scale was 0.91, suggesting its high reliability. Conclusion: Our results suggest that the Korean version of the DSM-5 Level 2 Cross-Cutting Symptom Measure for Depression and Irritability Scales for parents of children aged 6-17 years is reliable and valid and may be an efficient alternative to the K-CBCL.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제24권2호
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• pp.90-95
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• 2013

Botulinum toxin, a neurotoxin, is known to be an inhibitor of cholinergic neuromuscular transmission. Recently, it was reported that the administration of botulinum toxin is effective for the treatment of focal neurological motor disorders such as cervical dystonia, blepharospasm, hemifacial spasm, spasmodic dysphonia, and writer's cramp. Several case studies reported that the botulinum toxin was administered for the treatment of motor tic or vocal tic. It was found that this toxin reduces the frequency and severity of the tic as well as the premonitory urge and symptoms. In our case study, a noticeable decrease of motor tic symptom was observed after an intramuscular injection of 300mg of botulinum toxin in an 18-year-old patient with Tourette's disorder who showed only a little improvement of motor tic and vocal tic symptoms after treatment with antipsychotic drugs for several years. This case is reported in our study and literature survey was undertaken for reviewing similar cases. In our study, an 18-year-old boy diagnosed with Tourette's disorder based on Diagnostic and Statistical Manual of Mental Disorders, fourth edition presented with the following scores : the Clinical Global Impression scale, Yale Global Tic Severity Scale (motor/vocal/severity), Premonitory Urge Score, Korean Attention-Deficit Hyperactivity Disorder Rating scale, and Kovac Depression scale which were performed prior to the treatment were 5, 21/5/50, 100, 17, and 18 points, respectively. Two weeks after the injection of botulinum toxin, the scores were 4, 17/5/40, 50, 16, and 19 points, respectively. Eight weeks after the injection of botulinum toxin, they had become 3, 15/5/30, 25, 16, and 20 points, respectively, which clearly indicates a noticeable decrease of motor tic symptom.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제26권1호
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• pp.1-11
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• 2015

Phenomenology has been developed by philosophers like Kant and Husserl since the late 18th century. Jaspers, a German psychiatrist, adopted it into psychopathology studies and accumulated data by closely observing and recording the patients' symptoms and signs. Among descriptions done even before the psychopathology or diagnostic criteria of disorders in the field of child psychiatry was established, we can find exact and valuable descriptions matching the autism spectrum disorder or attention deficit/hyperactivity disorder. The diagnostic criteria of modern childhood psychiatric disorders were established based on these grounds. Phenomenological/descriptive methods in various psychiatric fields lead to medical study methods for social phenomenon such as oiettolie, hikikomori, and internet game addiction. Since Romanian orphans were adopted to the western world, descriptive studies along with neurobiological studies on the influence of stimulus deprivation on emotional and physical development are being conducted. While phenomenology, which was adopted by Jaspers to verify psychopathology, was developed mainly by observation and description, recent studies are explaining such descriptive phenomena even at the synapse level due to advances in neurobiology. Although phenomenological/descriptive psychiatry, describing precise and detailed experiences of patients, is less applied nowadays among modern study methods, we must remember that such descriptions may lead to biological studies and provide evidence to improve the accuracy of choosing and applying treatment methods.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제7권1호
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• pp.77-91
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• 1996

틱장애 아동들의 생화학적인 원인을 규명하고, 동반 질환과의 관계를 규명하기 위하여 87명의 틱장애 아동과 30명이 대조군을 대상으로 하여 다음과 같은 결과를 얻었다 87명 중 45명은 Tourette씨병(TS)이었고, 22명은 만성틱장애(chronic motor tic disorder, CMT), 20명은 일과성틱장애(transient tic disorder, TTD)이었다. 공존질병에 따른 분류로는 순수한 틱군(PT)은 43명, 틱과 주의력결핍 과잉운동장애(attention deficit hyperactivity disorder, T+ADHD)가 동반된 군이 28명, 틱과 강박장애(obsessive compulsive disorder, T+OCD)가 동반된 군이 16명이었다. 이들 대상군과 대조군에 대하여 혈장 5- HT(5-hydroxytryptamine)와 5-HIAA(5-hydroxyindoleacetic acid)를 측정하여 다음과 같은 결과를 얻었다. 1) 혈장내 5-HT함량과 5-HTAA함량 간에는 통계적으로 의미있는 상관성이 관찰되었다(Pearson correlation coefficient, 0.77, p<0.05). 2) 대상군에서 연령과 5-HT또는 연령과 5-HIAA함량과는 통계적으로 의미있는 상관성이 관찰되지 않았다. 3) 대조군에서 연령과 5-HT또는 연령과 5-HIAA함량과는 통계적으로 의미있는 상관성이 관찰되지 않았다. 4) 혈장 내의 5-HT함량은 TS, CMT, TTD그리고 대조군간에 통계적으로 의미있는 차이가 관찰되었으며 (F=34.48, df=3.113. p<0.01), 사후검증에서는 대조군과 TS군, 대조군과 CMT군, 대조군과TTD군간에는 의미있는 차이가 관찰되었으나, TS군과 CMT군 TS군과 TTD군, 그리고 TTD군과CMT군 간에는 의미있는 차이가 없었다. 5) 혈장 내의 5-HIAA함량은 TS군, CMT군, TTD군 그리고 대조군 간에 통계적으로 의미있는 차이가 관찰되었으며(F=26.48, df=3,113, p<0.01), 사후검증에서는 대조군과 TS군, 대조군과 CMT군, 대조군과 TTD군 간에는 의미있는 차이가 관찰되었으나. TS군과 CMT군 TS군과 TTD군, 그리고 TTD군과 CMT군 간에는 의미있는 차이가 없었다. 6) 공존질병의 생화학적 소견에 미치는 영향에 대하여는 혈장 내의 5-HT와 5-HIAA함량은 PT군, T+ADHD군, T+OCD군 그리고 대조군간에 통계적으로 의미있는 차이가 관찰되었으며 (5-HT, F=37.59, df=3, 113, p<0.01, 5-HIAA, F=27.37, df=3, 113, p<0.01), 사후검증에서는 대조군과 PT군. 대조군과 T+ADHD군, 대조군과 T+OCD군간에는 통계적으로 의미있는 차이가 관찰되었으나, PT군과 T+ADHD군, PT군과 T+ADHD군, PT군과 T+OCD군, 그리고 T+ADHD군과 T+OCD군간에는 의미있는 차이가 관찰되지 않았다. 이상의 결과로 미루어 serotonin계의 개체발생적인 과정은 대상군과 대조군에서 차이가 없으나, serotonin계의 기능저하가 틱장애의 발병과 관련이 있다고 할 수 있으며, 공존질병이 생화학적인 소견에 미치는 영향은 극미하다고 할 수 있다. 향후의 연구에 있어서는 틱장애에 대하여 serotonin계의 기능항진을 일으키는 약물 투여의 효과에 대한 연구가 시행되어야 하며 분자생물학적인 방법을 사용하여 그 기전을 규명하여야 한다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제12권1호
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• pp.149-156
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• 2001

베타 용혈성 A군 연구균(group A beta-hemolytic streptococcus)에 의한 류마치스성 열 이후에 Sydenham 무도병이 발현되는 환자 군에서 강박 증상 또는 틱 증상이 나타난다는 보고가 있은 후, A군 연구균 감염과 강박 장애 또는 틱 장애 사이의 관계가 주목받게 되었다. A군 연구균 감염 후에 강박 증상 또는 틱 증상이 유발되는 환자들은 갑작스런 발병과 극적인 증상 악화를 보이고 사춘기 이전에 발병하며 무도병 모양의 운동 및 독특한 양상의 운동 과잉 등의 신경학적 이상을 보이고 또 그 경과가 악화 및 완화를 반복하는 양상을 보인다. 이런 임상적 특징을 보이는 소아 환자 군을 PANDAS(pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections)라고 부르게 되었다. 이후 현재까지 강박 장애와 틱 장애뿐 아니라 주의력 결핍/과잉운동 장애, 신경성 식욕부전증, 신체이형장애 환자들이 PANDAS 범주에 속한다는 보고들이 있어 왔다. 본 증례는 7세까지 정상적인 발달을 보이다가 A군 연구균 감염 수개월 후부터, 인지 기능, 사회성, 언어 및 의사소통에 장애를 보이고 틱 증상과 함께 얼굴과 손발에 이상 운동을 보이는 환자를 기술하였다. 이에 저자들은 본 증례가 소아기 붕괴성 장애의 양상을 보이는 PANDAS 증례라고 생각되어 이를 문헌 고찰과 함께 보고함으로써, PANDAS가 틱 장애, 강박 장애, 주의력 결핍/과잉운동 장애, 신경성 식욕부전증, 그리고 신체이형장애 등의 양상을 보일 뿐 아니라 소아기 붕괴성 장애의 양상을 보일 수 있다는 사실을 보고하고자 한다.