Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5

Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.

Effects of Virtual Reality-Based Cognitive Training in the Elderly with and without Mild Cognitive Impairment

Objective@#This study aimed to introduce a 4-week long fully immersive virtual reality-based cognitive training (VRCT) program that could be applied for both a cognitively normal elderly population and patients with mild cognitive impairment (MCI). In addition, we attempted to investigate the neuropsychological effects of the VRCT program in each group. @*Methods@#A total of 56 participants, 31 in the MCI group and 25 in the cognitively normal elderly group, underwent eight sessions of VRCT for 4 weeks. In order to evaluate the effects of the VRCT, the Korean version of the Consortium to Establish a Registry for Alzheimer’s Disease Assessment Packet was administered before and after the program. The program’ s safety was assessed using a simulator sickness questionnaire (SSQ), and availability was assessed using the presence questionnaire. @*Results@#After the eighth session of the VRCT program, cognitive improvement was observed in the ability to learn new information, visuospatial constructional ability, and frontal lobe function in both groups. At the baseline evaluation, based on the SSQ, the MCI group complained of disorientation and nausea significantly more than the cognitively normal elderly group did. However, both groups showed a reduction in discomfort as the VRCT program progressed. @*Conclusion@#We conclude that our VRCT program helps improve cognition in both the MCI group and cognitively normal elderly group. Therefore, the VRCT is expected to help improve cognitive function in elderly populations with and without MCI.

Significant Domains of Life Satisfaction That Affect Suicidal Behavior in Adolescents

Objectives@#Adolescent suicide is a serious national issue in Korea. Recently, life satisfaction has been recognized as a major factor related to this issue. The main purpose of this study was to identify the domains of life satisfaction that affect suicidal behavior in adolescence. @*Methods@#Data were collected from eight middle schools in Incheon, Korea. A total of 1297 students answered questions regarding their demographic characteristics, happiness, self-related life satisfaction domains (appearance, leisure time, physical health, and mental health), depressive symptoms, and suicidal behavior. @*Results@#In the Spearman correlation analysis, female sex, perceived socioeconomic status (SES), happiness, and all four self-related satisfaction scores showed significant correlations with depression and suicidality. Multivariate regression analysis suggested that suicidality was significantly affected by perceived SES, satisfaction with appearance, mental health satisfaction, and depression. Finally, depression was identified as a partial mediator of the association between mental health satisfaction and suicidality, and a complete mediator of the association between female sex and suicidality. @*Conclusion@#Perceived SES, satisfaction with appearance, and mental health satisfaction significantly affected students’ suicidality, with or without the effect of depression. Health authorities, educators, and family members must be aware of this to identify adolescents at suicide risk earlier.

Empty Sella Syndrome Associated with Growth Hormone Deficiency:the First Case Report of WeissKruszka Syndrome

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. We report the first Korean boy with molecularly confirmed WSKA presenting with an atypical manifestation. A 16-year-old boy with a history of bilateral ptosis surgery presented with short stature (−3.49 standard deviation score) and delayed puberty. The patient showed characteristic craniofacial features including an inverted triangular-shaped head, exaggerated Cupid's bow, arched eyebrows, down-slanting palpebral fissures, and poorly expressive face. He had a mild degree of intellectual disability and mild hypotonia. Endocrine studies in the patient demonstrated complete growth hormone deficiency (GHD) associated with empty sella syndrome (ESS), based on a magnetic resonance imaging study for the brain that showed a flattened pituitary gland and cerebrospinal fluid space herniated into the sella turcica. To identify the genetic cause, we performed whole exome sequencing (WES). Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. This is the first case of WSKA accompanied by primary ESS associated with GHD. More clinical and functional studies are needed to elucidate this association.

Significant Domains of Life Satisfaction That Affect Suicidal Behavior in Adolescents

Objectives@#Adolescent suicide is a serious national issue in Korea. Recently, life satisfaction has been recognized as a major factor related to this issue. The main purpose of this study was to identify the domains of life satisfaction that affect suicidal behavior in adolescence. @*Methods@#Data were collected from eight middle schools in Incheon, Korea. A total of 1297 students answered questions regarding their demographic characteristics, happiness, self-related life satisfaction domains (appearance, leisure time, physical health, and mental health), depressive symptoms, and suicidal behavior. @*Results@#In the Spearman correlation analysis, female sex, perceived socioeconomic status (SES), happiness, and all four self-related satisfaction scores showed significant correlations with depression and suicidality. Multivariate regression analysis suggested that suicidality was significantly affected by perceived SES, satisfaction with appearance, mental health satisfaction, and depression. Finally, depression was identified as a partial mediator of the association between mental health satisfaction and suicidality, and a complete mediator of the association between female sex and suicidality. @*Conclusion@#Perceived SES, satisfaction with appearance, and mental health satisfaction significantly affected students’ suicidality, with or without the effect of depression. Health authorities, educators, and family members must be aware of this to identify adolescents at suicide risk earlier.

Empty Sella Syndrome Associated with Growth Hormone Deficiency:the First Case Report of WeissKruszka Syndrome

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. We report the first Korean boy with molecularly confirmed WSKA presenting with an atypical manifestation. A 16-year-old boy with a history of bilateral ptosis surgery presented with short stature (−3.49 standard deviation score) and delayed puberty. The patient showed characteristic craniofacial features including an inverted triangular-shaped head, exaggerated Cupid's bow, arched eyebrows, down-slanting palpebral fissures, and poorly expressive face. He had a mild degree of intellectual disability and mild hypotonia. Endocrine studies in the patient demonstrated complete growth hormone deficiency (GHD) associated with empty sella syndrome (ESS), based on a magnetic resonance imaging study for the brain that showed a flattened pituitary gland and cerebrospinal fluid space herniated into the sella turcica. To identify the genetic cause, we performed whole exome sequencing (WES). Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. This is the first case of WSKA accompanied by primary ESS associated with GHD. More clinical and functional studies are needed to elucidate this association.

Effects of Virtual Reality-Based Cognitive Training in the Elderly with and without Mild Cognitive Impairment

Objective@#This study aimed to introduce a 4-week long fully immersive virtual reality-based cognitive training (VRCT) program that could be applied for both a cognitively normal elderly population and patients with mild cognitive impairment (MCI). In addition, we attempted to investigate the neuropsychological effects of the VRCT program in each group. @*Methods@#A total of 56 participants, 31 in the MCI group and 25 in the cognitively normal elderly group, underwent eight sessions of VRCT for 4 weeks. In order to evaluate the effects of the VRCT, the Korean version of the Consortium to Establish a Registry for Alzheimer’s Disease Assessment Packet was administered before and after the program. The program’ s safety was assessed using a simulator sickness questionnaire (SSQ), and availability was assessed using the presence questionnaire. @*Results@#After the eighth session of the VRCT program, cognitive improvement was observed in the ability to learn new information, visuospatial constructional ability, and frontal lobe function in both groups. At the baseline evaluation, based on the SSQ, the MCI group complained of disorientation and nausea significantly more than the cognitively normal elderly group did. However, both groups showed a reduction in discomfort as the VRCT program progressed. @*Conclusion@#We conclude that our VRCT program helps improve cognition in both the MCI group and cognitively normal elderly group. Therefore, the VRCT is expected to help improve cognitive function in elderly populations with and without MCI.

Association between Perceived Parenting Style and Adolescents’ Attitudes toward Suicide

Objectives@#Adolescent suicide, a major cause of adolescent death, is affected by various factors, including attitudes toward suicide.This study investigated the association between parenting style and adolescents’ attitudes toward suicide and the mediating role of attitude toward suicide between parenting style and suicidal ideation. @*Methods@#We surveyed 1,071 adolescents from eight middle schools in Incheon, Korea. The survey included sociodemographic information, attitudes toward suicide, perception of parenting style, depression severity, and suicidality. @*Results@#Students in the authoritarian parenting group had a more permissive attitude toward suicide compared with the democratic and permissive parenting groups. These students considered that suicide is justified in certain situations and that choosing suicide is an individual’s right. They also had a negative attitude toward talking about suicide or intervening in others’ suicide. This association remained statistically significant after adjusting for the impact of confounding factors that could affect attitudes toward suicide, except for suicidal processes and preparedness to prevent suicide. In the mediation analysis, we observed that some factors of the attitudes toward suicide mediated between authoritarian parenting attitudes and suicidal ideation, namely, suicide as a right, preventability, suicide as normal/common, preparedness to prevent suicide, and resignation. @*Conclusion@#This study revealed the significant impact of parenting style on children’s attitudes toward suicide. Educating parents about the appropriate parenting attitudes–sympathetic and rational–can help prevent youth suicide.