[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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[in Japanese]

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We report the clinical characteristics of four children with severe motor and intellectual disabilities, diagnosed as having tracheomalacia with expiratory stridor and respiratory distress. Two of the 4 patients showed delayed motor development of unknown cause, one showed progressive myoclonus epilepsy, and one showed sequelae of drowning. Three of the patients had various conditions, such as thoracic deformity, recurrent respiratory infections, epilepsy, endotracheal granuloma, and so on which is usually seen in have all been identified as cases with tracheomalacia. Two of the patients had external pressure to the trachea, and three had been hospitalized for respiratory failure within six months after birth. These common findings among the patients suggest that there may be congenital factors behind tracheomalacia and the motor and intellectual disabilities that accompany it. The patients were treated with several tracheal tubes, positive pressure ventilation, and surgery. Ventilation via a self-inflating bag with a PEEP valve was useful. A clearer understanding of the clinical course of tracheomalacia will facilitate early diagnosis and appropriate treatment and thereby improve the prognosis for patients with the condition.

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There was an outbreak of Bordetella parapertussis in a institute for severely handicapped . 39 of 58 instituted people, mean age 41.2 years, presented with either fever or cough, and in 2 of the cases, the infection progressed to pneumonia. Five cases were detected on the 4th day, but the number of patients increased rapidly to 30 on the 10th day. Five patients were examined and diagnosed with polymerase chain reaction (PCR) amplification on the 22nd day because a rise in serum antibodies against the fimbriae of Bordetella pertussis was noted in some patients. No new cases were detected after preventive treatment with antimicrobial agents was initiated, and the outbreak was controlled. One patient showed a high titer of serum antibody to anti-pertussis toxin. But no rise in this antibody was noted after parapertussis infection because Bordetella parapertussis cannot produce the pertussis toxin. Moreover, no patients showed a rise in antibody titer against filamentous hemagglutinin. Serological diagnosis appears to be difficult in the case of parapertussis infection. It is important to be aware of this disease, and the PCR examination is recommended during an outbreak of infection in which patient presents with respiratory tract symptoms.

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This study examined long term effectiveness of mechanical in-exsufflator (MI-E) use in persons with severe motor and intellectual disabilities (SMID). Six individuals aged 9-59 years (4 males and 2 females) with recurrent respiratory tract infections and respiratory failure, who managed via a tracheotomy or endotracheal intubation were examined. The duration of tracheotomy management was 3-16 years (5 subjects) and the duration of ventilator management was 3-10 years (3 subjects). The MI-E was accessed via the tracheotomy orifice or intubation tube, set to give 30~40 cm H20 both the inspiratory and expiratory pressure with the inspiratory to expiratory time 2:1 seconds. One set included 10 or 5 cycles, and with a roughly 1 minute interval, 2-4 sets were conducted 5 days a week. The 3 subjects who were capable of spontaneous respiration were given a bronchoscopy and measured the ventilation volume. Some subjects showed a decreased tendency in the frequency of use of antibacterial drugs so treat respiratory tract infection, and some showed an increased tendency in ventilation volume, suggesting benefit of MI-E respiratory management in severely disabled individuals. However, tracheomalacia has become evident in 2 subjects with reduced improvements in atelectasis after starting to use the MI-E, showing the need for follow-up assessments. A larger number of cases must be examined in order to determine the risk of tracheomalacia from MI-E use and the safety of long term use in those with comorbid central hypoventilation.

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Decreases in gastroesophageal reflux and leakage of nutrients from percutaneous endoscopic gastrostomy (PEG), and improvement in feces condition have been reported as clinical effects of semi-solid enteral nutrients. In this study, we evaluated the effects of semi-solid enteral nutrients on the occurrence of complications, and on the injection time of nutrients in patients with severe motor and intellectual disabilities with PEG. We also evaluated its effects on patient activity. Improvement of digestive symptoms such as vomiting, air swallowing, defecation disorder (e.g.constipation), and reduced airway secretion were seen in the patients. We consider that such effects of the semi-solid nutrients led to improvement of quality of life.

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Up to now, there have been various attempts regarding the form of supplementary food meals for children (persons) with severe motor and intellectual disabilities (SMID) and eating or swallowing disorders. Among staple foods in paste form (paste food), full-rice porridge prepared with a blender (blender full-rice porridge) is thick sticky, easily separates from water, and is difficult to eat. Thus, for many years, only bread porridge has been provided. On the other hand, regarding the fact that there is no choice but to provide blender full-rice porridge to patients who do not like bread porridge, it has been reported that some families wish to provide rice based meals, and an improved menu which includes staple food other than bread porridge has been requested. Consequently, a safe method to provide rice based food as paste food was considered, and including an enzyme for blender full-rice porridge (enzyme porridge) was tested. For such inclusion, a survey on provided sample foods and eating conditions of the patients was carried out with the cooperation of caregivers, etc., and taste experienced for the first time and the amount accepted were confirmed. As a result, enzyme porridge was well accepted, and adopting a rice based food menu has become possible. Furthermore, attempts to improve potato based food, which is also thick sticky and difficult to eat, using the same enzyme was also carried out.

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In order to clarify the actual conditions and issues regarding in-home support for patients with severe motor and intellectual disabilities (hereinafter referred as “SMID") requiring medical care, a survey on the conditions of use of in-home support services was carried out. Responses from 142 patients with SMID living at home within Yokohama City, and who require medical care, were obtained (response rate 38.3%). 59 persons (41.5%) had difficulties in commuting to/from kindergarten, schools, or healthcare facilities. Details included problems with pick up/drop off, accompaniment by mothers, and the quality of medical care provided by nurses and non-medical staffs. The use of in-home services was 51.4% home nursing visit, 54.2% in-home care, and 45.8% daycare service. While each service had a large merit, the need for improvement was noted by approximately half of the respondents. The guarantee of medical care and its reliable implementation greatly influenced QOL of the patients with SMID and the family. Allocation of enough nurses, enrichment of care, increased implementation of medical care by non-medical staffs, coordination of related agencies and multi-occupations, support according to life stage and individual, and total care which includes the family, are demanded.

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Based on a survey on children (persons) with severe motor and intellectual disabilities (hereinafter referred as “SMID") requiring medical care and who live at home (142 persons, response rate 38.3%) in Yokohama City, the conditions and issues of the use of in-home support services, especially respite care (temporary daytime support, temporary stay at a healthcare facility), and in cases of emergency, were clearly identified. 62.0% of the respondents used temporary daytime support, and 69.7% used temporary stay at a healthcare facility. Approximately 60% of the respondents considered use of such services as good , due to family merits such as reduction of nursing burden, disease recovery and convalescence, and opportunity to get away from the house, as well as improvement of the QOL of the patient. On the other hand, however, approximately half experienced being turned down for such services, for reasons such as no vacancy, unable to handle the medical care, etc. Moreover, problems regarding use method, limits on the available period and frequency, and quality of nursing, were pointed out. Temporary daytime support and temporary stay at a healthcare facility are important in the support of the continued in-home life, and their quantitative and qualitative enrichment is considered to be an urgent tasks.

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To understand the changes over time in the empowerment process, the anxiety and the needs of families “caring for a child with severe motor and intellectual disabilities (SMID), an interview survey was performed in 18 parents caring for a child with SMID at home, and the findings of the survey were analyzed qualitatively. Regarding the empowerment process for the families, three steps were identified from the survey: (1) isolation in education and rehabilitation services; (2) development of a relationship with parent's companions, specialists, and public administrations; and (3) establishment of education and rehabilitation systems. Regarding the anxiety, the following steps were identified: (1) uncertainty about their future lives that depend on education and rehabilitation services, (2) physical and psychological burdens on family members, (3) worsening of the child's condition, (4) maintenance of health for family members and continuation of in-home care, and (5) future of the child after the death of the child's parents. Regarding the needs, (1) knowledge and information; (2) relationship, sympathy, and association with others; and (3) continuation of in-home care and respite were extracted.

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The present study aimed to categorize patients in Japanese institutions for children with physical disabilities on the basis of Oshima's classification, and to assess their activities of daily living (ADL) using Japanese Assessment Set of Paediatric Extensive Rehabilitation(JASPER) ADL Ver. 3.2. The survey data demonstrated that the patient population was divided into (1) a mild or moderate disability group (31%), (2) a severe physical disability group (20%), (3) a severe intellectual disability group (14%) and (4) a severe motor and intellectual disability group (35%). These proportions appeared to be associated with medical, social and historical context factors such as progression of disabilities with aging and recent advancement of home- and community-based care. The levels of independence of children with disabilities were closely correlated with support in all the ADL components examined. The degree of support differed among the disability groups, and was least in (1) the mild or moderate group, followed by (2) the severe physical group, (3) the severe intellectual group, and (4) the severe motor and intellectual disability group. In addition, differences were confirmed among the components of ADL. The results suggest that the most intensive support is needed in toileting/bathing, followed by dressing/washing and eating.

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With the revision of the score of patients with severe motor and intellectual disabilities (SMID), the evaluation range was adjusted. Subsequently, the additional amount in medical service fees must also be re-evaluated. In light of this, care for patients with the severe motor and intellectual disabilities and medical care dependent groups (SMID-MCDG), and care for other patients with severe motor and intellectual disabilities (Oshima Classification Group 1) were surveyed, and the actual conditions of the burden regarding expenses were calculated. According to this survey, for the care of other patients with severe motor and intellectual disabilities, a deficit of approximately 10,000 yen/day over normal hospital care operations was incurred, and for the care of patients with the severe motor and intellectual disabilities and medical care dependent groups (SMID-MCDG) and semi-SMID-MCDG, a deficit of approximately 24,000 yen/day and 20,000 yen/day, respectively, was incurred. Based on the difference in the amount for medical care of other patients with severe motor and intellectual disabilities, an additional amount of expense burden for patients with the severe motor and intellectual disabilities and medical care dependent group (SMID-MCDG) and semi-SMID-MCDG is an additional 14,000 yen/day and 10,000 yen/day, respectively, is considered necessary. Moreover, consideration of patients with severe motor and intellectual disabilities is also desired when setting the basic fees for hospital stays. In particular, the evaluation of medical care dependent groups is problematic.

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Communicating with children with severe motor and intellectual disabilities is difficult because they typically respond poorly to environmental stimuli. This report describes a case in which a music therapist (MT) and a patient showed a similar cognitive interrelationship as a result of music therapy adapted to the patient's minimal behavior. We found that the patient’s eye movement was slow during relaxing music, but became intensively rhythmical in a special trial involving the MT. The correlation was confirmed by with pulse oximetry and electrocardiography (ECG) measurements. An R-R interval analysis revealed a correlation of the periodic rhythm in the HF component between the MT and the patient. In addition, near infrared spectroscopy revealed elevated oxyhemoglobin levels, and EEG power spectra indicated a transient elevation of beta waves during music exposure.

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L1, a member of the immunoglobulin (Ig) superfamily of cell adhesion molecules (L1CAM), plays an important role in axonal outgrowth, and fasciculation and neural migration. The human L1CAM gene is located in the Xq28 region of the X chromosome. Mutations in the L1 gene are responsible for the development of an X-linked recessive neurological disorder –the CRASH syndrome. CRASH is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus. L1CAM mutations are classified into 3 groups based on the mechanism in which they affect the expression or structure of the L1CAM protein. We report the cases of an L1CAM mutation in a family with CRASH syndrome in which at least 5 males on the maternal side had congenital hydrocephalus. DNA analysis of 6 of the 8 relative showed a missense L1CAM mutation at exon 12 of the immunoglobulin-like domain5. The patients, mothers and one of their single female cousins were identified as heterozygous carriers. This point mutation in the extracellular domain of L1CAM belongs to the second group of L1 mutation. The head circumference of case 1 was larger than that of case 2. The other 2 cases of hydrocephalus in the family died shortly after birth. Detection of this mutation may be important for prenatal diagnosis and management of congenital hydrocephalus for improving the prognosis of such cases. We explained to all the family members why this syndrome affects only male patients. They were glad to know the cause. L1CAM mutations are detected in 15-30% of patients without a family history of hydrocephalus. DNA analysis may be useful for the diagnosis and carrier detection of cryptogenic hydrocephalus both in familial and apparently sporadic cases.

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We applied the guidance to the urination in the toilet with using a bedwetting alarm for two patients with severe motor and intellectual disabilities for whom former periodic urination guidance was not effective. We used a bedwetting alarm to recognize what time of a day they are tend to urinate and set the optimal guidance time. This intervention demonstrated both patients had more urination at the toilet at the set time and less in diapers than periodic guidance. We concluded that data collection over a long period and continued assistance based on them was quite important even the patients who had urinated in diapers for more than 50 years could urinate at the toilet.

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[in Japanese]

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