[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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We experienced an infant with congenital myotonic dystrophy (CMyD) who was found to have cerebral white matter lesions in the MRI. Based on the analysis of the clinical course and findings in four autopsy cases of CMyD children, the mechanisms of the formation of the cerebral white matter lesions were discussed. The subject was a 3 year-old boy with a family history of myotonic dystrophy (DM). Hydramnion during the perinatal stage, episodes of respiratory disturbance, myopathic facial appearance, hypotonia and psychomotor retardation were found. According to the MRI, enlargement of the postrior horn of the lateral ventricle and multifocal high signal lesions in the periventricular white matter were observed, which resembled periventricular leukomalacia (PVL). In the neuropathological findings of the four CMyD autopsy cases, all cases were found to have leukomalacia including old malacia focus. Because many CMyD cases have respiratory disturbance during the neonatal stage, PVL may be attributed to perinatal hypoxic barin damage in CMyD patients. However, white matter lesions are also reported in adult-onset DM cases. Therefore, although cerebral hypoperfusion during the perinatal stage can be the main causal factor for PVL in CMyD, it raises the possibility that myotonic dystrophy protein kinase gene abnormality is the predisposing cause of leukomalacia. Further studies are needed to test this possibility.

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To assess staff resources for care we performed a time study of nurses and care workers who assisted the patients in taking meals at lunch time in institutions for severe motor and intellectual disabilities (SMID). The subject group included 178 patients in 5 wards from 3 institutions for SMID. Most patients suffered from cerebral palsy and average age was 36.3±14.4 years old. The capacity of the ward was 40 to 50 patients. Among the subject group 128 took meals with full assistance, while others took meals with partial assistance including supervision. Eating time of the patients with full and partial assistance was 23.37±13.26 (n = 128) and 32.29±20.14 (n = 50) minutes, respectively. Visualized flow of eating assistance revealed staff efficiency. In most wards staff members began to assist patients to eat one after another and performed two rounds of assistance during the allotted time. The total time designated for lunch by the wards with capacity of 50 patients ranged from 56 to 146 minutes, and the number of staff was 15 to 18.

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This study was conducted for the purpose of contributing to the understanding and support for elderly fathers who are caring for children with severe motor and intellectual disabilities (SMID) at home. The subjects were 6 fathers and the study was carried out on their attitude and feelings toward caregiving. As a result, many fathers, while feeling a tremendous shock about their childrens’ disabilities, made a resolve to raise them at home. Thereafter, however, they were not involved in their childrens’ upbringing for reasons related to work. However, after retirement, they became proactive in caring for their children. By so doing, they were able to recognize the enormous amount of care and the great deal of burden involved in the caregiving of their children, thus feeling apologetic toward their wives. Furthermore, by proactively interacting with their children, they were able to strengthen their love toward them and felt appreciation for the existence of their children for such reasons as “their marital bond being strengthened,” and “their health could be maintained.” This is what it means to “be a father,” and what it means to become development as a human being. On the other hand, the fathers felt a measure of insecurity about the childrens’ lives after their own deaths, thus revealing their dissatisfaction of the existing welfare system for the disabled.

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We conducted a survey of actual conditions of short-term hospital stays at networked hospitals under National Hospital Organization by patients with severe motor and intellectual disabilities after implementation of Services and Supports for Persons with Disabilities Act. This survey was compared with surveys in public corporation hospitals, and short-term stay admission under the said act was considered. While there was not a large difference in the monthly average users per single facility, the monthly average of number of days was higher for public corporation hospitals. By comparison of monthly average number of days per user, a significant result was a length of stay of 11 days or more observed at four national hospital facilities (7.5%) but 71 public corporation hospitals (68.3%). Regarding the use of holiday periods, average use per month was the highest in August with 15.6 ± 14.5 persons. Among users, approximately 60% required medical care. As short-term stays are expected to increase from now, for the acceptance of those patients, urgent measures from the facility side to handle the increase in the number of users requiring medical care, and stays during holiday periods are needed. It is also hoped that users receive a periodic medical examination before using a short-term stay facility.

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The purpose of this study was to develop a question sheet concerning the condition of mothers of children with severe motor and intellectual disabilities who live at home. The study defined the mothers’ condition as physical conditions such as physical fatigue and sleepiness and mental conditions such as irritation that are easily recognized in everyday life. Questions categories were created based on the review of documents and an interview survey, 39 categories were decided through a review of content and surface validity and these were used to survey 853 mothers of children with severe motor and intellectual disabilities of up to 19 years of age and who live at home. The results of factor analysis extracted 5 factors: instability of emotional response, difficulty in relieving fatigue, sense of urgency, physical discomfort and decrease in immunity, and Cronbach’s coefficient α was 0.939 overall (34 categories). Confirmatory factor analysis results were GFI=0.825 and RMSEA=0.066. Criterion-related validity noted significant negative correlation with “overall health condition (measured by visual analogue scale, 1 category)”. The credibility and validity of the question sheet concerning the condition of mothers of children with severe disabilities were supported by the above results.

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Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, eye movement disturbance, and neonatal respiratory disturbance. Neuroradiological findings show cerebellar vermis hypoplasia or aplasia, deep interpeduncular fossa, and thick and elongated superior cerebellar peduncles called molar-tooth-sign. As well, criteria for Joubert syndrome-related disorders are classified by complications such as pigmented retinopathy, coloboma, nephronophthisis, and liver fibrosis. Nephronophthisis is an especially important complication affecting life expectancy. Patients with nephronophthisis do not present with proteinuria and/or hematuria, but with a high level of urinary beta 2 microglobulin and low urinary specific gravity. Progressive anemia and renal function disorders usually occur in the years before adolescence. We report a Joubert syndrome patient who died of end-stage renal failure with nephronophthisis at 46 years of age. A search of the literature failed to reveal any other cases of Joubert syndrome who died of nephronophthisis at an age over forty years. Even in post-adolescence Joubert syndrome patients, care needs to be taken for signs of nephronophthisis.

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We experienced a case with severe motor and intellectual disabilities (SMID) who improved by long-term response, while experiencing difficulty in management of intratracheal granulation and tracheomalacia. The patient is a 27 year old man with SMID due to near drowning when 15 year old, and became under tracheotomy management at an early stage. At the age of 20, intratracheal granulation was detected, the size, insert length, and type of cannula was changed, and the application and inhalation of dexamethasone, and suppression of muscle stress by internal remedy were carried out. 14 months later, coexisting tracheomalacia was confirmed, and cyanotic attacks gradually increased. From the age of 22, high positive end-expiratory pressure (high PEEP) management by continuous positive airway pressure (CPAP) was introduced. Furthermore, sedative strengthening by large amounts of phenobarbital (PB) was initiated and local injections of triamcinolone acetonide (TA) to the granulation were carried out, and cyanotic attacks then gradually decreased. At the age of 24, laryngotracheal separation surgery was performed. As a result, the cannula was no longer needed and lower respiratory tract infection significantly decreased. Currently, the patient is not experiencing cyanotic attacks and is able to go out with his family. Local injection of TA was considered effective for intratracheal granulation, and the laryngotracheal separation surgery could prevent aggravation of lower respiratory tract disease, and enough suppression by PB was deemed effective for the tracheomalacia.

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Here, we would like to report a case of improved oral and eating/swallowing function, as a result of continued specialized oral care, and eating/swallowing training at home for an extended period. At the start of treatment, the patient, a 2 years 6 months old girl, received a tracheotomy, and all nutrition was received from nasal feeding tube. Regarding intraoral conditions, strong breath odor caused by gingival inflammation and calculus deposition throughout the entire jaw, and halitosis caused by a coated tongue were observed. Specialized oral care by a dental hygienist was carried out twice a month, and consisted of brushing, removal of dental calculus, cleaning of the lingual mucosa, application of fluoride, eating/swallowing training, etc. After one year, mouth irritation was reduced, and she became possible to eat small amounts of jelly. When she was 9 years old, oral ingestion of pastes and foods processed by a blender once a day, became possible. In this case, continuing specialized oral care, and eating/swallowing training for 6 years at home in a relaxed environment, is assumed to have led to improvement in eating/swallowing function. Even for children with severe motor and intellectual disabilities, and who have received a tracheotomy and are unable to orally ingest foods, improvement in eating/swallowing function is thought possible by positive efforts in eating/swallowing rehabilitation centered specialized oral care.

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[in Japanese]

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