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PURPOSE: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. RESULTS: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments. CONCLUSION: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.
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Exoma , Malformações do Sistema Nervoso , Criança , Humanos , Exoma/genética , Mutação , Malformações do Sistema Nervoso/genética , Atrofia/genética , Receptor 1 de Folato/genética , CinesinasRESUMO
BACKGROUND: The purpose of this study was to evaluate the efficacy of early medical intervention for psychosocial problems detected in adolescents in a school health checkup, with the broader goal of prevention of these problems in adolescents. METHODS: The Questionnaire for Triage and Assessment with 30 items score and scores for five subscales (physical symptoms, depression symptoms, anxiety symptoms, self-efficacy, and family function), and an investigation of lifestyle were determined in a school health checkup for 5th grade elementary to 3rd grade junior high school students. Forty-three children were found to be at high risk for psychosomatic disorder, of whom 18 then received a medical intervention (early intervention group) and 25 did not (non-intervention group). Fifty-seven children (outpatient group) treated for psychosomatic disorder for ≤3 months were also included in the study. The Questionnaire for Triage and Assessment with 30 items (QTA30) was completed by all participants every 3 months for 1 year and scores were compared among the groups. RESULTS: In the early intervention group, total Questionnaire for Triage and Assessment with 30 items scores; physical, depression, and anxiety symptoms; and unstable relationships with friends and teachers at school all significantly improved after 1 year compared to the first survey. None of these items improved in the non-intervention group, while the outpatient group had gradual improvement in all scores. Family function scores in the early intervention group improved over time, whereas those in the non-intervention group worsened. CONCLUSIONS: Early detection of children at high risk for psychosomatic disorder at a school health checkup and early medical intervention were useful for prevention of psychosomatic disorder in adolescents.
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Transtornos Psicofisiológicos , Instituições Acadêmicas , Adolescente , Ansiedade/diagnóstico , Ansiedade/terapia , Criança , Humanos , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/terapia , Estudantes , Inquéritos e QuestionáriosRESUMO
BACKGROUND: We investigated the pathogenic, clinical, and laboratory characteristics of children diagnosed with septic arthritis (SA) during the past 24 years and identified the risk factors for SA-related sequelae. METHODS: We retrospectively reviewed the records of patients admitted to Fukuoka University Hospital from 1997 to 2020. Causative pathogens were compared between the first (1997-2008) and second (2009-2020) periods. We also compared the clinical and laboratory characteristics in patients with known or unknown pathogens, and in patients with or without sequelae. RESULTS: A total of 37 patients with SA were identified, including 28 patients (76%) in the first period and nine patients (24%) in the second period. Sixteen of 37 patients (43%) were younger than 2 years, including two neonates. Pathogens were identified in 25 (68%) of 37 patients. Patients with known pathogens had a significantly higher C-reactive protein level on admission than those with unknown pathogens (P < 0.05). The predominant pathogen was Staphylococcus aureus (38%, 14/37). Although S. aureus and Hemophilus influenzae type b (Hib) were predominant pathogens in the first period, Hib was not found in the second period. Six (16%) of 37 patients with SA experienced sequelae. Moreover, the risk factors for the development of sequelae were significantly associated with infection at age <1 month and delayed surgical treatment (>4 days). CONCLUSIONS: The incidence of SA had decreased dramatically in the second period, and Hib was no longer the predominant pathogen. Earlier surgical drainage should be performed in neonates with SA.
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Artrite Infecciosa , Haemophilus influenzae tipo b , Osteomielite , Infecções Estafilocócicas , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/epidemiologia , Artrite Infecciosa/terapia , Criança , Progressão da Doença , Humanos , Lactente , Recém-Nascido , Osteomielite/diagnóstico , Estudos Retrospectivos , Infecções Estafilocócicas/complicações , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/epidemiologia , Staphylococcus aureusRESUMO
BACKGROUND: In adolescence, physical symptoms may develop due to psychosocial problems but such problems are not fully evaluated in school medical checkups. The aim of this study was to compare lifestyle factors with psychosomatic symptoms in adolescents using the subscales of the Questionnaire for Triage and Assessment with 30 items (QTA30) in school health checkups. METHODS: The QTA30 was used in checkups for 3,414 students from the fifth grade of primary school to the third grade of junior high school in south Wakayama prefecture. The QTA is a self-completed questionnaire with five subscales of physical symptoms, depression symptoms, self-efficacy, anxiety symptoms, and family function. Each subscale is divided into three groups of clinical, borderline, and healthy, based on the subscale score. Subscale scores were compared with lifestyle items of gender, grade, habits, life events, and school attendance. RESULTS: The clinical rate for all subscales was significantly higher for a higher grade (P < 0.001). Anxiety symptoms were correlated with physical symptoms (r = 0.560). Anxiety and physical symptoms were significantly higher for students who went to bed at a later time with no absences in the last month and who had problems with friends and teachers (both P < 0.001). Family function correlated with self-efficacy (r = 0.418) but not with other subscales. Study time was most related to self-efficacy (P < 0.001). CONCLUSIONS: The QTA30 subscale scores facilitated detection of psychosomatic stress and latent risks of psychosomatic disease at an early stage. Thus, the use of the QTA30 in a school medical checkup may permit early intervention for psychosomatic stress in adolescents.
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Ansiedade , Instituições Acadêmicas , Adolescente , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Humanos , Transtornos Psicofisiológicos/diagnóstico , Transtornos Psicofisiológicos/epidemiologia , Estudantes , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Clinical evidence is required about the long-term efficacy and safety of melatonin treatment for sleep problems in children with neurodevelopmental disorders (NDDs) who underwent adequate sleep hygiene interventions. METHODS: We conducted a 26-week, multicenter, collaborative, uncontrolled, open-label, phase III clinical trial of melatonin granules in children 6 to 15 years of age who had NDDs and sleep problems. The study consisted of the 2-week screening phase, the 26-week medication phases I and II, and the 2-week follow-up phase. Children received 1, 2, or 4 mg melatonin granules orally in the medication phases. Variables of sleep status including sleep onset latency (SOL), aberrant behaviors listed on the Aberrant Behavior Check List-Japanese version (ABC-J), and safety were examined. The primary endpoint was SOL in the medication phase I. RESULTS: Between June 2016 and July 2018, 99 children (80 males and 19 females, 10.4 years in mean age) were enrolled at 17 medical institutions in Japan-74, 60, 22, 9, 6, and 1 of whom had autism spectrum disorder, attention-deficit/hyperactivity disorder, intellectual disabilities, motor disorders, specific learning disorder, and communication disorders, respectively, at baseline. Fifteen children received the maximal dose of 4 mg among the prespecified dose levels. SOL recorded with the electronic sleep diary shortened significantly (mean ± standard deviation [SD], - 36.7 ± 46.1 min; 95% confidence interval [CI], - 45.9 to - 27.5; P < 0.0001) in the medication phase I from baseline, and the SOL-shortening effect of melatonin persisted in the medication phase II and the follow-up phase. Temper upon wakening and sleepiness after awakening improved significantly (P < 0.0001 each) in the medication phase I from baseline and persisted in the follow-up phase. The following subscales of the ABC-J improved significantly: stereotypic behavior (P = 0.0322) in the medication phase I; and irritability, hyperactivity, and inappropriate speech (P < 0.0001) in the medication phase II. Treatment-emergent adverse events did not occur subsequent to week 16 after medication onset, and NDDs did not deteriorate in the follow-up phase. CONCLUSIONS: Long-term melatonin treatment in combination with adequate sleep hygiene interventions may afford clinical benefits to children with NDDs and potentially elevates their well-being. TRIAL REGISTRATION: ClinicalTrils.gov , NCT02757066 . Registered April 27, 2016.
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Transtorno do Espectro Autista , Melatonina , Transtornos do Neurodesenvolvimento , Transtornos do Sono-Vigília , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/tratamento farmacológico , Criança , Feminino , Humanos , Japão , Masculino , Melatonina/uso terapêutico , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/tratamento farmacológico , Sono , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/tratamento farmacológicoRESUMO
BACKGROUND: Suicide is the leading cause of death among Japanese adolescents. However, knowledge gaps regarding contemporary demographics and factors associated with suicidality among Japanese adolescents are a major concern. This study examined the prevalence of suicidality among Japanese adolescents and investigated associated factors. METHODS: A population-based questionnaire survey investigating general health was administered to 22,419 adolescents aged 13-18 years. The 29-item questionnaire covered emotional status, family function, cyberbullying, suicidality, and stressors (e.g., relationships with parents/friends, school performance, and sexual identity). We conducted multiple logistic regression analysis to identify factors associated with suicidality in this population. RESULTS: The prevalence of suicidal ideation was 21.6% in males and 28.5% in females, and that of attempted suicide was 3.5% in males and 6.6% and in females. Bullying and stress related to family relationships had the strongest associations with suicidality. Exposure to cyberbullying had the highest odds ratio for both junior high (3.1, 95% confidence interval [CI] 2.1-4.4) and high school students (3.6, 95% CI 2.5-5.3). Other factors significantly associated with suicidality were sex, emotional status, and stress about relationships with friends, sexual identity, school records, and academic course. Adolescents accessed a variety of resources to cope with stressors, with the Internet being the most common resource consulted. CONCLUSIONS: Suicidality is commonly experienced among Japanese adolescents. Although there are many associated risk factors, cyberbullying is of particular concern. Recognition of factors associated with adolescent suicidality will inform further research and suicide prevention efforts for healthcare providers and families.
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Suicídio , Adolescente , Feminino , Humanos , Japão/epidemiologia , Masculino , Prevalência , Fatores de Risco , Ideação Suicida , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The number of reports of child abuse and neglect in Japan has increased each year. A causal relationship between socially high-risk pregnant women and child abuse is strongly suggested. This study aims to investigate the characteristics of socially high-risk pregnant women and their children's outcomes, to help prevent child abuse. METHODS: In total, 2,342 births were retrospectively analyzed from medical records. We extracted the frequency, factors, and circumstances of socially high-risk pregnant women, and the presence of social interventions for their children. RESULTS: There were 538 (23%) socially high-risk pregnant women out of 2,342 cases investigated. Related factors (with duplication) were: economic problems (258 cases, 48%), mental disorders (139 cases, 26%), teenage pregnancies (112 cases, 21%), multiple pregnancies (90 cases, 17%), and pregnancy conflict (73 cases, 14%). Sixty-four (12%) expectant mothers received their first health examination in late pregnancy or were not receiving pregnancy health examinations. An analysis of births showed neonatal intensive care unit hospitalization in 40% of the children born to socially high-risk pregnant women. The hospital Child Abuse Prevention Committee intervened in 71 cases, and child consultation centers intervened in 55 cases. Twenty-two children entered social care facilities and four children died of unknown causes. CONCLUSIONS: Socially high-risk pregnant women had various social and individual problems, and received multidisciplinary interventions for child rearing support. Antenatal assessment and multidisciplinary early intervention for socially high-risk pregnant women are necessary to prevent child abuse.
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Maus-Tratos Infantis/estatística & dados numéricos , Complicações na Gravidez/epidemiologia , Adolescente , Adulto , Criança , Feminino , Humanos , Japão/epidemiologia , Transtornos Mentais/epidemiologia , Gravidez , Gravidez na Adolescência/estatística & dados numéricos , Gravidez Múltipla/estatística & dados numéricos , Cuidado Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Fatores SocioeconômicosRESUMO
BACKGROUND: In adolescence, physical symptoms may develop due to psychosocial problems, but such problems are not fully evaluated in school medical checkups. The aim of the study was to compare the characteristics of students with high and low scores on the Questionnaire for Triage and Assessment with 30 items (QTA30) in a school health checkup. METHODS: The QTA30 (a self-completed questionnaire) was used in checkups for 3,414 students from the 5th grade of primary schools to the 3rd grade of junior high schools in south Wakayama Prefecture. The students were divided into groups with high (QTA30 ≥ 37) and low (QTA30 < 37) risk for psychosomatic disorder. Eleven items, including gender, grade, lifestyle habits, and life events, were compared between these groups, and in subgroups with and without recent absence from school. RESULTS: The QTA30 response rate was 87.9%. The high-risk group had significantly more 3rd grade students (P< 0.001), females (P< 0.001), problems with teachers or friends (P< 0.001), and experience of bullying (P< 0.001), in addition to game playing for ≥2 h (P< 0.001), late bedtime (P< 0.001), and many absences (P< 0.001). Students in the high-risk group with no absences for 1 month regardless of age still had a late bedtime and problems with friends, and 76.4% of the high-risk students had not visited a medical institution. CONCLUSIONS: Use of the QTA30 facilitated detection of psychosomatic stress in school medical checkups, with latent risks of truancy detectable at an early phase. The QTA30 may thus be useful in early intervention for psychosomatic stress of adolescents.
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Exame Físico/métodos , Transtornos Psicofisiológicos/diagnóstico , Instituições Acadêmicas , Inquéritos e Questionários , Adolescente , Bullying/psicologia , Feminino , Humanos , Japão , Estilo de Vida , Masculino , Angústia Psicológica , Transtornos Psicofisiológicos/epidemiologia , Fatores de Risco , Serviços de Saúde Escolar , Estudantes/psicologiaRESUMO
BACKGROUND: Night-shift lifestyles affect children as well as adults, and are associated with sleep and behavioral problems among children. This study aimed to investigate associations among sleep patterns, individual/environmental factors, and problematic behaviors in children at age 5 years. METHODS: Data for sleep patterns, individual / environmental factors, and problematic behaviors for 8,689 5-year-old children were collected from health-checkup records. Problematic behaviors investigated were anxious behavior (being afraid, difficulty being separated from the mother), developmental behavior (violence, restlessness, rebellious behavior, restrictive diet, stereotypic play), personal habits (thumb-sucking, nail-biting, tic, masturbation), and excretory problems. The relationships between sleep patterns (bedtime, sleep duration) and the presence of these behaviors were analyzed. Individual / environmental factors that affected problematic behaviors were statistically identified using a tree-form model. RESULTS: Late bedtime and short sleep duration showed significant adverse effects on children's problematic behaviors - odds ratio (OR): 1.07, 95% confidence interval (CI): 1.03-1.11 and OR: 0.92, 95% CI: 0.87-0.97, respectively. Long television watching time, abnormality at birth, and lack of father's support also showed significant adverse effects on problematic behaviors (OR: 2.34, 95% CI: 1.87-2.94), and significantly affected late bedtime and short sleep duration. CONCLUSIONS: There were significant associations among sleep patterns, individual / environmental factors, and problematic behaviors in 5-year-old children. Improving children's sleep patterns, reducing the duration of television watching, and improving support from fathers may reduce problematic behaviors.
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Transtornos do Comportamento Infantil/epidemiologia , Transtornos do Sono-Vigília/epidemiologia , Sono , Ansiedade/epidemiologia , Comportamento Infantil , Desenvolvimento Infantil , Pré-Escolar , Pai , Feminino , Hábitos , Humanos , Estilo de Vida , Masculino , Mães , Comportamento Problema , Fatores de Risco , Fumar/epidemiologia , Inquéritos e Questionários , Televisão/estatística & dados numéricos , Fatores de TempoRESUMO
BACKGROUND: Depression has major negative consequences for individuals and society, and psychological assessment tools for early disease detection are needed. The aim of this study was to investigate the reliability and validity of an updated Japanese version of the Children's Depression Inventory (CDI-J) and set a cut-off score for the detection of depression. METHODS: The participants consisted of 465 children and adolescents aged 7-17 years. The control (CON) groups consisted of students recruited from elementary and junior-high school (CONEJ) and children recruited from among hospital staff members (CONRE), while the outpatient clinical (OPC) groups consisted of pediatric psychosomatic outpatients (OPCPD) and adolescent psychiatric outpatients (OPCPS). The CON and OPC CDI-J scores underwent factor analysis using varimax rotation, followed by measurement invariance analysis. The Youth Self-Report (YSR) was administered to assess concurrent validity. The Mini-International Neuropsychiatric Interview was administered to the OPC group to diagnose current depressive symptoms. Receiver operating characteristics (ROC) analysis was conducted to evaluate case-finding performance and to set cut-off points for the detection of depression. RESULTS: The CDI-J was reliable in terms of internal consistency (Cronbach α = 0.86; mean inter-item correlation, 0.16). Re-test reliability was substantial (mean interval 18 days: γ = 0.59, P < 0.05). The four-factor solution exhibited adequate internal consistency (range, 0.52-0.73) and correspondence (Pearson correlation of 0.65 with the YSR) for both the CON and OPC groups. On ROC analysis the optimal cut-off score was 23/24. CONCLUSION: The CDI-J can be used as a reliable and well-validated instrument alongside standard diagnostic procedures.
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Depressão/diagnóstico , Escalas de Graduação Psiquiátrica , Psicometria/métodos , Adolescente , Criança , Depressão/epidemiologia , Feminino , Humanos , Incidência , Japão/epidemiologia , Masculino , Curva ROC , Reprodutibilidade dos TestesAssuntos
Serviços de Saúde da Criança , Criança , Humanos , Cidades , Acessibilidade aos Serviços de Saúde , FamíliaRESUMO
Cell therapy for adrenocortical insufficiency can potentially provide steroid replacement in response to physiological stimuli. Previously, we reported that adipose tissue-derived stromal cells (ADSCs) are transformed into steroid-producing cells by overexpression of nuclear receptor subfamily 5 group A member 1 (NR5A1). The steroidogenic cells are characterized by the production of both adrenal and gonadal steroids. Cytotherapy for adrenocortical insufficiency requires cells with more adrenocortical characteristics. Considering the highly developed vascular network within the adrenal cortex, all adrenocortical cells are adjacent to and interact with vascular endothelial cells (VECs). In this study, NR5A1-induced steroidogenic cells derived from mouse ADSCs (NR5A1-ADSCs) were co-cultured with mouse VECs. Testosterone secretion in NR5A1-ADSCs was not altered; however, corticosterone secretion significantly increased while levels of steroidogenic enzymes significantly increased in the corticosterone synthesis pathway. Co-culture with lymphatic endothelial cells (LECs) or ADSCs, or transwell culture with NR5A1-ADSCs and VECs did not alter corticosterone production. VECs expressed higher levels of collagen and laminin than LECs. Culture in type-IV collagen and laminin-coated dishes increased corticosterone secretion in NR5A1-ADSCs. These results suggest that VECs may characterize ADSC-derived steroidogenic cells into a more corticosterone-producing phenotype, and VECs may be useful for generating adrenal steroidogenic cells from stem cells.
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Tecido Adiposo , Técnicas de Cocultura , Corticosterona , Células Endoteliais , Células-Tronco Mesenquimais , Animais , Corticosterona/metabolismo , Células-Tronco Mesenquimais/metabolismo , Células-Tronco Mesenquimais/citologia , Células Endoteliais/metabolismo , Células Endoteliais/citologia , Camundongos , Tecido Adiposo/citologia , Tecido Adiposo/metabolismo , Fator Esteroidogênico 1/metabolismo , Fator Esteroidogênico 1/genética , Células Cultivadas , Diferenciação Celular , Testosterona/metabolismo , Testosterona/biossínteseRESUMO
Orthostatic dysregulation (OD), a common psychosomatic disorder in children, is caused by circulation disturbance resulting from autonomic imbalance. OD is a significant public health threat due to its association with school refusal and depression in children. During the COVID-19 pandemic, many children suffered from school closures, lack of exercise, smartphone addiction, and school refusal. The COVID-19 pandemic made it much more difficult to deliver existing approaches to patients and families with OD and increased the risk of prolonged and severe OD. In response, web-based digital health solutions are expected to support patients and families. Digital therapeutics for OD can not only deliver established treatments online, such as pharmacotherapy and behavioral therapy but also provide new interventions, such as regular mental health programs led by clinical psychologists. It is necessary to keep in mind that digital therapeutics are not intended to replace established treatments, but rather to supplement them and provide additional support. However, most research on OD has been conducted in Japan. Therefore, to provide unique findings from Japan, it is important to conduct further epidemiological research using large-scale databases in the real world and reveal the clinical characteristics and detailed epidemiology of OD, leading to the development of novel treatments.
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BACKGROUND: There have been reports of isolated trace elements or vitamin deficiencies due to imbalanced diets, but no cases of selenium deficiency combined with scurvy have been reported. CASE PRESENTATION: A 7 year-old boy diagnosed with autistic spectrum disorder and mild psychomotor retardation, started an imbalanced diet including specific snacks and lacto-fermenting drinks from 5 years of age. Gingival hemorrhage and perioral erosions occurred at 6 years and 8 months of age, and he was referred to our hospital at 7 years of age. Slight tachycardia was found. Serum vitamin C level was 1.1 µg/dL (reference range (rr): 5-17.5 µg/dL), and selenium level was 2.8 µg/dL (rr: 7.7-14.8 µg/dL). He was diagnosed with both selenium deficiency and scurvy. Multivitamins and sodium selenate were administered for 12 days during admission, and symptoms of selenium deficiency and scurvy improved. After discharge, symptoms abated following the administration of multivitamins and regular administration of sodium selenate every 3 months. CONCLUSIONS: We report a complicated case of both selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks in a 7-year-old boy with autism spectrum disorder. In patients with imbalanced diet, regular blood tests including trace elements and vitamins are necessary.
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OBJECTIVE: We studied the relationship between the clinical course of Panayiotopoulos syndrome (PS) and high-frequency oscillations (HFOs) captured during interictal scalp electroencephalography (EEG) to determine the feasibility of using HFOs to detect seizure activity in PS. METHODS: We analyzed the interictal scalp EEGs of 18 children with PS. Age parameters, seizure frequencies, and antiepileptic drugs were compared between the HFO-positive (HFOPG) and HFO-negative (HFONG) groups. RESULTS: Thirteen patients (72.2%) had HFOs while five patients (27.8%) had no HFOs in 194 interictal EEG records. We found no statistically significant differences in the mean age of epilepsy onset and last seizure, seizure frequency, or frequency of status epilepticus. However, the seizure activity period of the HFOPG was significantly longer than that of the HFONG. Patients with an HFO duration longer than 2 years were intractable to treatment. In most cases, seizures did not occur in the absence of HFOs, even when the spikes remained. CONCLUSIONS: HFOs are related to the seizure activity period in patients with PS. SIGNIFICANCE: We propose that HFOs are a biomarker of epileptogenicity and an indicator for drug reduction because seizures did not occur if HFOs disappeared even if the spikes remained.
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Epilepsias Parciais , Epilepsia , Criança , Humanos , Couro Cabeludo , Epilepsias Parciais/diagnóstico , Eletroencefalografia , Convulsões/diagnóstico , Epilepsia/diagnósticoRESUMO
Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C>T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.
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Coreia/genética , Epilepsia Neonatal Benigna/genética , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Povo Asiático/genética , Análise Mutacional de DNA , Família , Humanos , LinhagemRESUMO
BACKGROUND: Epidemiological and clinical studies suggest that attention deficit hyperactivity disorder (ADHD) and reading disability co-occur more frequently than would be expected by chance. The purposes of this study were to (i) assess the frequency of Japanese syllabary (Kana) reading disability (RD) and (ii) measure the psychometric properties of the Das-Naglieri Cognitive Assessment System (DN-CAS) in a clinic-referred sample of Japanese children with ADHD. METHODS: Twenty children with ADHD aged 8-13 years were evaluated using both Kana reading tasks and the DN-CAS. RESULTS: Seven children (35%) showed excessive reading time in at least two of four Kana reading tasks and were diagnosed as ADHD plus RD. The children with ADHD plus RD took significantly longer to read a single mora, four-syllable words, and short sentences. There was no significant difference in the time it took the children with ADHD plus RD to read four-syllable non-words compared to the children with ADHD only. The children with ADHD plus RD had significantly lower simultaneous-processing scores in the DN-CAS compared to children with ADHD but not RD. CONCLUSION: Children with ADHD should be given Kana reading tasks because RD is highly comorbid with ADHD. DN-CAS is a useful method for evaluating cognitive processing in children with ADHD with or without RD.
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Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Cognição/fisiologia , Dislexia/epidemiologia , Deficiências da Aprendizagem/epidemiologia , Processos Mentais , Psicometria/métodos , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Comorbidade , Dislexia/diagnóstico , Dislexia/psicologia , Feminino , Seguimentos , Humanos , Japão/epidemiologia , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/psicologia , Masculino , Testes Neuropsicológicos , Estudos RetrospectivosRESUMO
Objective: Children's behavior and emotions are affected by sleep disturbances, the parent-child relationship, media viewing time, and the social status of parents and caregivers. We conducted a questionnaire survey to identify the factors that have the greatest impact on children's behavior and emotions and how these factors relate to each other. Methods: A parental questionnaire survey was performed at a public elementary school. The questionnaire comprised questions on the family environment (e.g., family structure, media and game exposure, after-school lessons, and caregiver's work schedule) and physical information, the Strengths and Difficulties Questionnaire (SDQ), the Children's Sleep Habits Questionnaire (CSHQ), and the Pittsburgh Sleep Quality Index (PSQI) for parents' sleep condition. A path diagram was drawn to hypothesize the complex interrelationships among factors, and structural equation modeling was used to estimate the path coefficients. Result: We identified several factors that significantly affected the SDQ score. The CSHQ total score had the largest impact, followed by after-school lessons, single-mother families, and children's sex. In addition, several indirect pathways that led to the CSHQ score (i.e., a pathway from time spent watching television to CSHQ score via children's bedtime and a pathway from single-mother family to CSHQ score via PSQI total score) significantly affected the SDQ score. Conclusion: Children's sleep habits that were influenced by several environmental factors had the greatest impact on children's behavior and emotions, which suggested that children's behavioral problems can be improved by interventions focused on sleep habits, such as sleep hygiene instructions.
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BACKGROUND: Neonatal arterial ischemic stroke (NAIS) presents as seizures, including convulsions, subtle seizures, and apnea, and most patients experience neurological sequelae. Diagnosis is often delayed owing to low test sensitivity. The present study aimed to identify the early clinical diagnostic factors for NAIS in neonates with seizures. METHODS: The present study included 54 patients born at ≥36 weeks of gestation during the last 15 years who presented to the neonatal intensive care unit with neonatal seizures and underwent brain magnetic resonance imaging (MRI), 6 of whom were diagnosed with NAIS. Maternal background, clinical characteristics, and transcranial pulsed Doppler sonography results were retrospectively reviewed. RESULTS: Of the 24 patients who presented with convulsions or subtle seizures, 3 (13%) were diagnosed with NAIS and 3 of 30 patients (10%) presented with apnea. Maternal premature ventricular contraction complications were higher in the NAIS group than in the non-NAIS group (p = 0.01). NAIS group showed lower mean middle cerebral artery (MCA) resistance index (RI) was lower the non-NAIS group (p = 0.009), while the left-right RI difference (p = 0.019), mean MCA blood velocity (MnV; p = 0.04), and left-right MnV difference (p < 0.001) in cerebral blood flow velocities (CBFVs) were higher in the NAIS group. CONCLUSIONS: Our results revealed that maternal arrhythmia may be a diagnostic factor for NAIS in neonates with seizures. Early brain MRI is essential in neonates with seizures and findings of low MCA-RI, high MCA-MnV, or high left-right difference in CBFVs to distinguish between NAIS and non-NAIS.
Assuntos
Doenças do Recém-Nascido , AVC Isquêmico , Acidente Vascular Cerebral , Recém-Nascido , Humanos , Estudos Retrospectivos , Apneia/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/complicações , Convulsões/diagnóstico por imagem , Convulsões/complicações , Ultrassonografia Doppler Transcraniana/efeitos adversosRESUMO
SUBJECT: This study aimed to validate the Japanese version of the Child's Sleep Habits Questionnaire (CSHQ-J) and identify which factors affect the CHSQ-J total score. METHODS: The participants were 3158 children (aged 4-12 years) and their parent/guardian, as community samples from large, medium-sized, and small cities. Each parent/guardian filled in the questionnaire set (CSHQ-J, Pittsburgh Sleep Quality Index, demographic data: family structure, sleep environment, participants' present illness, and economic information); we also collected 51 clinical samples from our facility to calculate the cutoff score. According to the age of the participants in the original CSHQ (4-10 years), validation was assessed statistically via exploratory and confirmatory factor analyses and internal consistency (verified by Cronbach's α). Multivariate analysis was conducted to identify factors affecting the CSHQ-J total score. RESULTS: We received responses from 2687 participants (response rate: 85%) and analyzed 1688 participants who were the age of the original CSHQ participants. The alpha coefficients of each subscale of the CSHQ-J ranged from 0.43 to 0.68. The cutoff score was 48 (sensitivity: 0.69, specificity: 0.79). The confirmatory and exploratory factor analyses did not converge. Multivariate analysis showed that the factors that significantly influenced the CSHQ-J total score were co-sleeping, supplemental sleep, and child's age. Present illness, especially adenoids, also significantly influenced CSHQ total score. CONCLUSIONS: The CSHQ-J has adequate internal consistency and is useful for screening for pediatric sleep disorders. Supplemental sleep, habit of co-sleeping, and child's age should be considered when using the CSHQ-J as a screening tool for sleep problems in children.