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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.128, No.6, June 2024
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Original Article
Title
Questionnaire Survey on the Views of Participants in Advance Care Planning for Pediatric Neurological Disorders
Author
Fumihito Nozaki1) and Sayoko Haruyama2)
1)Department of Genetics, Shiga Medical Center for Children
2)Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health
Abstract
Objective: Advance care planning (ACP) for pediatric neurological disorders is not well understood in Japan. This study aimed to elucidate the views of participants (hospital-based healthcare professionals, patients, family members, and out-of-hospital stakeholders) in ACP for pediatric neurological disorders.
Methods: A questionnaire survey about ACP was conducted among 48 participants (16 hospital-based healthcare professionals, 2 patients, 8 family members, and 22 out-of-hospital stakeholders) in ACP. Responses were compared among three groups of position and age, and written responses to an open-ended question were analyzed qualitatively.
Results: Among the 48 respondents, 67% (n=32) recognized the term "ACP". A significant difference in the response rate for this item was observed between hospital-based healthcare professionals and out-of-hospital stakeholders (p< 0.01). The majority (more than 94%) of the respondents responded that they had gained a deep understanding of ACP by participating in ACP, they thoroughly understood ACP by listening to conversations with both hospital-based healthcare professionals and patient and family members, and felt ACP should be performed regularly. No significant differences were observed for these items. The qualitative study showed the significance of ACP in sharing information and thoughts among participants and in deepening their understanding of the patient. Healthcare professionals were required to do highly individualized ACP and to disseminate initiatives. The difficulty of reflecting the contents of ACP in actual medical care and the necessity of advance life planning were also identified as issues.
Conclusions: It is important to perform ACP in cooperation with hospital-based healthcare professionals, patients, family members, and out-of-hospital stakeholders.
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Original Article
Title
Eating Habits and Nutritional Inadequacies in Children with Autism Spectrum Disorder
Author
Shinya Nagasawa and Koji Tanoue
Department of General Medicine, Kanagawa Children's Medical Center
Abstract
Children with autism spectrum disorder (ASD) often show food selectivity due to hyper- and hypo-reactivity to sensory input and repetitive behaviors. We investigated the eating habits of children with limited food repertoires. The study participants were recruited through the Department of General Medicine or Child and Adolescent Psychiatry at Kanagawa Children's Medical Center between January 2014 and September 2020. Parents completed a 3-day food record representing typical weekday food consumption. We researched their food repertoires and nutrition based on these food records over the 3-day period. The participants were 46 subjects with ASD (35 boys, 11 girls) between 1 and 19 years of age (mean age: 8.9±4.7 years). Food repertoires consisted of 15 or fewer items in 18 participants. Nutritional inadequacy was common for vitamin A (63%), vitamin B1 (59%), vitamin B2 (50%), calcium (74%), magnesium (54%), iron (48%), and zinc (50%). A significant inverse correlation was observed between food repertoire counts and nutritional inadequacies (r = −0.56; p<0.01). The lower the food repertoire counts were, the more nutritional inadequacies there were. Some participants in this study had serious complications. Medical providers caring for patients with ASD should be alert to symptoms manifested by nutritional deficiencies.
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Original Article
Title
Development of the Japanese Version of the Food Allergy Quality of Life Scale for Children (FAQLQ-CF Japanese Version)
Author
Eri Maeda Toshio Katsunuma Ryohei Suzuki Nagatoshi Sagara Akiko Aota and Kenichi Akashi
Department of Pediatrics, Daisan Hospital, The Jikei University School of Medicine
Abstract
Purpose: The Food Allergy Quality of Life Questionnaire-Child Form (FAQLQ-CF) is widely used internationally as a quality-of-life assessment index for children with food allergy (FA). We attempted to develop the Japanese version of the FAQLQ-CF to enable its use in Japan.
Methods: Three questionnaires of the Japanese version, the FAQLQ-CF, the Food Allergy Independent Measure-Child Form (FAIM-CF), and the questionnaires of the quality of life in elementary school children (Kid-KINDL®), were administered to 8- to 12-year-old children with FA (FA group) and children without FA (non-FA group). The reliability of the Japanese version of the FAQLQ-CF was assessed by the retest method and internal consistency (Cronbach's alpha coefficient), and construct validity was certified by correlations between questionnaires. The FAQLQ-CF and FAIM-CF were translated into Japanese according to standard methods.
Results and Discussion: The intraclass correlation coefficients of each questionnaire for the 99 FA group (63 boys, 9.7±1.5 years old) and the 90 non-FA group (45 boys, 9.6±1.4 years old) ranged from 0.73 to 0.87, confirming high reproducibility. The Japanese version of the FAQLQ-CF showed a significant decrease in quality of life in the FA group (p<0.01). A high correlation (r=0.57) was obtained between the Japanese version of the FAQLQ-CF and the Japanese version of the FAIM-CF. These results suggest that the Japanese version of the FAQLQ-CF is useful in assessing the quality of life of children with FA.
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Case Report
Title
A Case of PTEN Variant Causing West Syndrome
Author
Mari Kadota1) Ryosuke Urabe1) Marie Nakai1) Hideki Hoshino1) Mitsuhiro Kato2)3) Fuyuki Miya4) and Masakazu Mimaki1)
1)Department of Pediatrics, Teikyo University School of Medicine
2)Department of Pediatrics, Showa University School of Medicine
3)Epilepsy Treatment Center, Showa University Hospital
4)Clinical Genetics Center, Keio University School of Medicine
Abstract
West syndrome (WS) is a typical developmental and epileptic encephalopathy with a predilection for infancy, and many causative genes have recently been identified. We encountered a case of WS with a variant in the PTEN (Phosphatase and Tensin Homolog) gene, which is a tumor suppressor gene and is closely associated with diseases involving the formation of hamartomas known as PTEN Hamartoma Tumor Syndrome (PHTS). A girl with no significant abnormalities in her perinatal history developed epileptic spasms in clusters at 7 months of age. She showed hypotonia, delayed motor development, and an enlarged head circumference. Head MRI showed no obvious structural abnormalities. ACTH therapy and subsequent oral antiseizure medications resolved the seizures and EEG abnormalities, but the patient had moderate to severe psychomotor developmental delay. Genetic analysis identified a known missense mutation in the PTEN gene, which is not a common causative gene for WS. To the best of our knowledge, there have been no reports of patients with the PTEN variant showing intractable epilepsy, such as WS, without obvious structural brain abnormalities, as in this case. In WS associated with macrocephaly, the possibility of PTEN variant should be considered even in the absence of structural abnormalities on head MRI, and a genetic analysis should be considered for long-term management.
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Case Report
Title
A Case of GATA2 Deficiency Diagnosed by the Coexistence of Verrucae and Appropriately Treated for Myelodysplastic Syndrome
Author
Yuichi Taniyama Yasuhiro Ikawa Mika Takenaka Yuta Sakai Kazuhiro Noguchi Toshihiro Fujiki Rie Kuroda and Taizo Wada
Department of Pediatrics, Kanazawa University Hospital
Abstract
A GATA2 deficiency is an autosomal dominant genetic disease characterized by a range of symptoms that includes myeloid tumors, skin diseases, and immunodeficiency. Patients with GATA2 deficiency are at high risk of developing myelodysplastic syndrome (MDS). Therefore, early diagnosis and treatment are warranted. Here, we describe a family with GATA2 deficiency, myeloid tumors, and refractory verrucae. The patient was a 17-year-old boy. He and his father had congenital sensorineural hearing loss. The boy developed acute myeloid leukemia (AML) at the age of 12. The AML went into remission with chemotherapy. He had shown a low level of IgG (500 mg/dL) and B-cell deficiency after treatment. At the age of 17, his platelet count decreased to less than 30,000/μL. Bone marrow examination revealed MDS with monosomy 7, which has a poor prognosis. His elder sister had also developed MDS. This family history and the fact that he suffered from verrucae made us suspect that this family had GATA2 deficiency. Genetic testing of the patient identified a germline variant of the GATA2 gene (GATA2 c.1021-1024 del, p.A341fs). This variant was also detected in his father and sister, indicating that it was a pathogenic variant. The patient underwent a haploidentical-hematopoietic stem cell transplant from his mother and is currently doing well. Early diagnosis of GATA2 deficiency is important for patients and family members to determine the appropriate transplant method and follow-up in case of other serious complications. We should consider GATA2 deficiency in patients with MDS with monosomy 7 and refractory verrucae.
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Case Report
Title
Repeated Fractures Revealed Osteogenesis Imperfecta, Coexisting with Congenital Combined Hypopituitarism
Author
Misato Tsujimoto1) Mikiko Koizumi1) Eri Konishi1) Taichi Kitaoka2) Yoko Miyoshi2)3) Keiichi Ozono2) and Masato Nishihara1)
1)Department of Pediatrics, Yodogawa Christian Hospital
2)Department of Pediatrics, Osaka University Graduate School of Medicine
3)Faculty of Health and Nutrition, Osaka Shoin Women's University
Abstract
Combined pituitary hormone deficiency is a disorder in which the production and secretion of several anterior and posterior pituitary hormones are impaired, occurring in approximately 1 in 4,000 live births. We report a case of a boy with combined pituitary hormone deficiency who was revealed to have osteogenesis imperfecta because of multiple fractures.
The boy was 4 years old and had been diagnosed with hypopituitarism, therefore he had been receiving thyroid hormone, corticosteroid, and growth hormone replacement therapy since he was two months old. He had no family history of osteogenesis imperfecta. His parents were young, and malnutrition in addition to his poor adherence to medication, suggested maltreatment. His two previous fractures were suspected to be the result of physical abuse. Therefore, he was looked after by the local government as a child in need of protection. He was admitted to our hospital at the time of his third fracture and was diagnosed with osteogenesis imperfecta type I by clinical features and x-ray. A heterozygous mutation was identified in the COL1A1 gene by whole exome analysis. Osteogenesis imperfecta is a rare disease with an incidence of approximately 1 in 20,000, and the combination of the two is extremely rare. In this case, the diagnosis was affected due to his poor adherence to medication and family background of maltreatment.
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Case Report
Title
A 9-year-old Patient Requiring Intensive Care for Convulsive Status Epilepticus Associated with Multisystem Inflammatory Syndrome in Children after COVID-19
Author
Ryo Nakanishi1) Rei Miyake1) Toshiki Nakamura1) Meiwa Shibata2) Takahiro Matsushima1) Satoko Suzuki1) Osamu Saito3) Hiroshi Hataya1) and Masaru Miura4)
1)Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center
2)Department of Infectious Diseases, Tokyo Metropolitan Children's Medical Center
3)Department of Intensive Care Unit, Tokyo Metropolitan Children's Medical Center
4)Department of Cardiology, Tokyo Metropolitan Children's Medical Center
Abstract
Cases of multisystem inflammatory syndrome in children (MIS-C), which causes severe inflammation in multiple organs two to six weeks after coronavirus disease 2019 (COVID-19) onset, have been reported worldwide. However, few severe cases have been reported in Japan in contrast to other nations. Moreover, MIS-C causing severe central nervous system symptoms requiring tracheal intubation has thus far not been reported in Japan. We herein describe a case of MIS-C requiring multidisciplinary management, including tracheal intubation, for multiple organ failure and convulsive status epilepticus.
A 9-year-old boy was admitted with a fever of five days' duration, convulsive status epilepticus, and Kawasaki disease-like signs one month after COVID-19 onset. He had multiple organ failure, including circulatory failure, impaired consciousness, and coagulopathy. Soon after admission he was placed on a ventilator and received a vasoactive agent in the intensive care unit. MIS-C was diagnosed, and intravenous immunoglobulin, steroids, and aspirin were administered. Thereafter, his symptoms, including the fever and laboratory findings, began to improve.
Echocardiography demonstrated dilatation of the right coronary artery and the left main trunk, but the coronary artery lesions resolved by day 30 after MIS-C onset. There were no obvious neurological sequelae, and the patient was discharged on hospital day 28. The present case exemplifies the efficacy of multidisciplinary treatment of severe MIS-C.
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