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THE JOURNAL OF THE JAPAN PEDIATRIC SOCIETY
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Vol.128, No.5, May 2024
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Original Article
Title
Usefulness of Medical Findings at the 18-month Health Examination and the Social Communication Questionnaire at 5 Years Old for Screening of Autism Spectrum Disorders in Children
Author
Tatsuya Koeda1) Sawako Ohba2) and Yoshihiro Maegaki3)
1)Department of Psychosocial Medicine, National Center for Child Health and Development
2)Work-Life Balance Support Center, Tottori University Hospital
3)Division of Child Neurology, Brain and Neuroscience, Faculty of Medicine, Tottori University
Abstract
Objectives: The aim of this study was to evaluate the utility of medical findings of the 18-month health examination and that of the social communication questionnaire (SCQ) as screening for children with a diagnosis of autism spectrum disorder (ASD) at 5 years old.
Subject and a method: The subjects were 116 infants among 2,482 who had abnormal social development findings at the 18-month health examination and were followed up until they were 5 years old. We diagnosed ASD and evaluated the utility of the medical findings of the 18-month old health examination.
Results: We were able to perform a health examination for 94 out of 116 infants at the age of 5 years. Of those, 20 (21.3%) were diagnosed with ASD. Poor eye contact was significantly more often found in the ASD group than in the non-ASD group (Chi square test, p< 0.01). An SCQ cutoff value of eight points allowed ASD screening, with 80.0% sensitivity and 82.2% specificity.
Discussion: The screening at the 18-month health examination using medical findings is useful because the incidence of ASD among high-risk infants is higher than the overall incidence. In addition, an SCQ cutoff value of eight points allowed high precision screening of ASD.
Concluding remarks: The medical findings of the 18-month health examination and the SCQ at 5 years old are effective screening tools for ASD.
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Original Article
Title
Study on Tube Feeding Using Nasogastric Tube and Gastrostomy in an Institution for Persons with Severe Motor and Intellectual Disabilities
Author
Satomi Ban Kenji Sugai Natsuko Arai Masako Asou and Bunsei Egawa
Soleil Kawasaki Medical Center for the Severely Disabled
Abstract
【Background/Aims】In individuals with severe motor and intellectual disabilities (SMID), gastrostomy is not introduced, and instead, the NG tube is used for an extended period. Our study aimed to clarify the effects of different nutritional methods on patients and medical staff.
【Methods】A retrospective study on tube feeding was conducted on 44 patients with enteral nutrition, aged 5-65 years, in our institution in December 2022 through a review of medical records. In March 2023, we surveyed medical and nursing staff regarding the progress of nasogastric tubes and gastrostomies and the advantages and disadvantages of gastrostomies.
【Results】 Fourteen patients were placed on an NG tube for a median of 7 years and 1 month. Gastrostomy placement was not attempted in six patients because of the absence of disadvantages associated with NG tube feeding, and in four cases, owing to the guardians' unwillingness to opt for gastrostomy. Thirty patients had gastrostomy for a median of 12 years and 2 months. Gastrostomy was introduced because of aspiration pneumonia in 14 patients and difficulties in NG tube placement in 3 cases. The median time to perform gastrostomy placement from the initial recommendation was 5 months. A survey with medical and nursing staff highlighted the disadvantages of NG tube feedings and the advantages of gastrostomy.
【Conclusions】This indicated that gastrostomy has significant advantages for persons with SMID, and its placement was delayed in this population.
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Original Article
Title
Current Status of Patients Who Required Medical Support in the Local Area
Author
Chizuru Seiwa1) Emi Shirahata1) Kazuyuki Nakamura2) and Aiko Ito1)2)
1)Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities
2)Department of Pediatrics, Faculty of Medicine, Yamagata University
Abstract
According to the increase in the number of children who require medical support, the need for community support is increasing. To analyze the current situation and issues of the patients who required medical support in Yamagata Prefecture, we conducted a survey of patients who were treated and managed at the Yamagata Prefectural Rehabilitation Center for Children with Disabilities. We collected the information from the medical records of outpatients and inpatients who required medical support as of December 2018. We identified 145 patients: 122 outpatients aged 2 to 18 years (median 12 years), and 23 inpatients aged 0 to 54 years (median 9.5 years), who were distributed throughout Yamagata Prefecture in proportion to the distribution of the population. As for the underlying diseases, congenital anomalies and perinatal disorders accounted for about 50% and 30% of the cases, respectively. About 60% of outpatients and 90% of inpatients had both gait disturbances and severe intellectual disabilities. Inpatients' clinical symptoms were more severe than those of outpatients. Many patients had received medical support, especially by age 2. The patients were distributed throughout the prefecture, including areas with poor transportation and/or heavy snowfall. Patients, especially those under two years old, required medical and welfare support from the local community depending on their situation. Considering the underlying diseases, the number of patients requiring medical support is not expected to decrease. It is necessary to establish a system that can provide medical and welfare services in each living area.
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Case Report
Title
A Case of Food Protein-induced Enterocolitis Syndrome due to Rice Accompanied by Autoimmune Neutropenia and Drug Fever
Author
Shunki Takeshita Kazushi Izawa Hiroshi Nihira Naoya Iwata Ryo Ogino Yuiko Hirata Masahiko Isa Eitaro Hiejima Junko Takita and Takahiro Yasumi
Department of Pediatrics, Kyoto University Hospital
Abstract
An otherwise healthy six-month-old male infant presented with food protein-induced enterocolitis syndrome (FPIES) caused by rice, accompanied by autoimmune neutropenia and drug fever. The infant was breastfed and was shifted to complementary feeding of rice and vegetables at five months of age. At six months of age, the infant presented with recurrent fever and vomiting, and gastroenteritis was considered.
Subsequently, the infant developed generalized edema, neutropenia, hypoalbuminemia, and elevated C-reactive protein levels, leading to hospitalization. Although extensive investigations for diagnosing severe infections were conducted, the etiology remained unknown. Protein-losing enteropathy was confirmed via protein-losing scintigraphy, and suspicion of FPIES led to the initiation of elemental formula feeding. The patient's generalized edema and hypoalbuminemia improved. Because the patient developed vomiting symptoms on a rice challenge test, the diagnosis of FPIES secondary to rice was made. Moreover, positivity for anti-neutrophil antibodies led to the diagnosis of concomitant autoimmune neutropenia. Furthermore, considering the recurrent fevers that developed after the administration of sulfamethoxazole/trimethoprim (ST) combination therapy for prophylaxis against neutropenia, drug-induced fever was highly likely.
Diagnosing FPIES can be challenging owing to the lack of specific diagnostic tests. Moreover, patients may present with symptoms similar to those of other severe infections, such as fever and vomiting. Rice-induced FPIES is relatively rare in Japan, and the coexistence of autoimmune neutropenia and drug fever further complicated this case. Careful evaluation of the clinical course and laboratory findings is essential for accurately assessing the disease state in patients.
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Case Report
Title
An Infant with Diencephalic Syndrome due to Optic Glioma Diagnosed by Failure to Thrive
Author
Yu Nishiyama Mari Hasegawa Takashi Ishihara Kuniyoshi Mizumachi Hiroko Akisada Mai Watakabe Satoshi Ochi and Keiji Nogami
Department of Pediatrics, Nara Medical University
Abstract
Diencephalic syndrome is a rare condition that primarily affects infants under three years old, often due to brain tumors located around the hypothalamus. It manifests with distinct symptoms such as emaciation, hyperactivity, nystagmus, and vomiting. Notably, the syndrome is characterized by preserved height velocity, poor weight gain, marked emaciation, and the absence of subcutaneous fat, despite a normal energy intake. Although its exact pathophysiology remains unclear, potential factors include excessive energy consumption, growth hormone (GH) production by tumor cells, and disruption of the hypothalamic-pituitary feedback system by the tumor.
This case report focuses on a six-month-old girl who underwent a cranial MRI scan due to poor weight gain. The scan revealed a neoplastic lesion in the suprasellar region, leading to the diagnosis of optic glioma. Despite exhibiting poor weight gain, her height velocity was remarkable, while her body mass index was remarkably low at -4.3 SD. Furthermore, the infant was diagnosed with diencephalic syndrome due to high basal GH levels (24.8 ng/mL) and an excessive GH peak level (100 ng/mL) during the GH stimulation test. To promote weight gain, the infant received an energy intake exceeding 100 kcal/kg/day, supplemented by tube feeding. Following chemotherapy and tube feeding, her GH levels gradually decreased. Nevertheless, they remained relatively high (5-10 ng/mL) even as her weight gain improved. This case underscores the importance of conducting cranial imaging studies in infants with poor weight gain and severe emaciation as a means of differentiating diencephalic syndrome.
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Case Report
Title
Blunt Cerebrovascular Injury Experienced by a 1-month-old Infant after a Traffic Accident
Author
Hiroshi Fukumasa1) Kazuki Homma1) Ryo Miyaoka2) Yoshinori Okahata1) Masashi Kobayashi1) and Kazutaka Nishiyama1)
1)Department of Pediatrics, Kitakyushu City Yahata Hospital
2)Department of Neurosurgery, University of Occupational and Environmental Health
Abstract
Blunt cerebrovascular injury (BCVI) is a rare injury in which trauma to the head and neck results in vascular damage. We report a case of a 1-month-old infant who experienced BCVI after a traffic accident. At the time of the accident, she was being carried by her mother who was sitting in the back seat, and a child restraint system (CRS) was not used. Initially, she was not taken to a medical facility; however, 7 hours postaccident, she began vomiting after breastfeeding and was brought to our emergency room. She was hospitalized for further observation. Approximately 24 hours after the accident, she developed a seizure, and head and neck computed tomography, magnetic resonance imaging, and magnetic resonance angiography showed acute infarction in the left anterior and middle cerebral artery area due to complete occlusion of the left internal carotid artery, leading to the diagnosis of cerebral infarction associated with BCVI. She was intubated, and antiepileptic and cerebral protection therapy was initiated without endovascular treatment. Subsequently, she presented with status epilepticus and required further treatment with polypharmacy, and was extubated on the 25th admission day as her symptoms improved. She was discharged on the 60th admission day and is under outpatient care without obvious right hemiplegia. Based on the circumstances of the accident, we believe that the BCVI was caused by injury to the left internal carotid artery due to overprogression, contralateral rotation, or hyperflexion of the neck. This could have been prevented with the proper use of a CRS.
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