[in Japanese]

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A survey was conducted to determine what problems with day care services still existed a year after the enactment of legislation regarding day care services for patients with severe motor and intellectual disabilities. Results revealed that in addition to new problems such as less stable income, increased administrative workload, difficulties with securing staff, and an expanding variety of user needs, previous problems such as an insufficient number and size of centers, problems with pick-up, and problems with health care systems had also resurfaced. Furthermore, although problems relating to transitional care of infants who have been hospitalized in the NICU for a long period of time must also be handled in the future, solutions that must be implemented immediately include increasing the number of centers and enhancing the pick-up system in consideration of the aging of users and their families as well as the increasing degree of medical needs.

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In June and July, 2013, 13 of 30 patients with severe motor and intellectual disabilities (SMID) at our center presented with respiratory symptoms, including mainly a fever, coughing, nasal discharge and increased sputum. Six of them began wheezing and two of them died. Significantly increased human metapneumovirus (hMNV) antibody levels were observed in paired serum samples from nine patients, confirming an hMNV outbreak. Acute antibody levels in the 13 affected patients were from 1:200 to 1:1600. Previously infected patients were sometimes reinfected and some cases were very serious. This report shows that hMNV infection can easily become very serious for high risk patients such as those with SMID, and may even lead to death in those with comorbidities. Measures are therefore needed for early detection of hMNV infections and prevention of the virus from spreading in facilities.

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We surveyed and statistically analyzed the current status of patients with severe motor and intellectual disabilities (SMID) to determine the relationships between factors contributing to SMID. Subjects were 135 patients with SMID living at A center between April 1, 2012 and March 31, 2013. Medical records were examined to determine the status of patients and logistic regression analysis was performed on 13 factors shown to be related to SMID from past studies and survey results. Analysis revealed 16 associations between factors, including an inverse relationship between cerebral palsy and epileptic seizures within the last year. In particular, Yokochi classification A1-C3, first or second stage of profound intellectual and multiple disabilities and epilepsy were statistically associated with a number of factors. Although it has previously been predicted that various factors are involved in incidence, status, prognosis and other aspects of SMID, evidence is severely lacking and no accurate epidemiological studies have been conducted on the topic. We intend to continue collecting evidence to verify the situation and establish indicators for individualized medicine for severely disabled children, and to link our findings to prognosis testing of epileptic seizures.

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[Introduction] Evaluating visual function in patients with severe motor and intellectual disabilities (SMID) and cerebral visual impairment (CVI) is extremely challenging. The aim of this study was to develop a convenient non-motor visual functional scale for this population. [Method] The scale comprised eight subscales extracted mainly from normal visual development studies before three months postnatally. Fifty healthcare professionals and special-needs education teachers participated in the weighting of items. Severity of visual impairment was ranked using 32 pieces of virtual patient card, and conjoint analysis was undertaken for the obtained data. Validity of the scale was examined by comparing the score of the scale and achromatic and chromatic contrast sensitivity functions (CSFs) obtained by observation of optokinetic nystagmus (OKN) to drifting gratings in 24 patients with SMID and CVI or non-CVI (median age, 16 years 6 months; range, 3-57 years). Inter-rater reliability among 34 healthcare professionals and special-needs education teachers was confirmed using intraclass correlation coefficient (ICC) in evaluating agreement between video judgments. [Results] Total score of the scale demonstrated a moderate significant correlation with composite CSFs (r=-0.50, p<0.05). Inter-rater reliability was moderate (ICC=0.59, p<0.05). [Discussion] This scale may be a useful tool in occupational therapy for patients with SMID because it offers moderate validity and reliability and it is readily available, with no requirement for special equipment.

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This study focuses on the support services available to patients with severe motor and intellectual disabilities who need medical services (hereinafter referred as “SMID”) and their families. The study reveals how the main in-home daily-life services are actually used, and outlines the problems and challenges in using such services from the families’ point of view. It also considers what kind of future in-home support services should be provided to such patients and their care givers. The investigation disclosed that patients with SMID and their care giving families often live in difficult conditions, and revealed the problems and challenges in supporting such patients from infancy. The study shows that both experts and supporters face the following problems in constructing future in-home services: 1) Understanding the characteristics of patients with SMID and their care givers, and recognizing their latent needs; 2) Coping with the need to expand small multifunctional facilities; 3) Recognizing the need to attach greater importance to the relationships between the patients with SMID and their caregivers in providing medical care; and 4) Recognizing the need for measures to support caregivers while guaranteeing the quality of their lives.

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This research was undertaken to clarify the incidence, means of diagnosis and therapy of cancer in adults with severe motor and intellectual disabilities (SMID). Data were obtained from the SMID database, which was a database of all residents aged more than 20 years in 2000 of SMID wards in 74 national hospital organizations and was managed by the National Center for Neurology and Psychiatry. They were used to calculate the mean incidence of such cancers from 2000 to 2004 and this rate was compared with that of Japanese aged more than 20years. Next, we compared the incidence, age of onset and survival rate in 2004 for each primary site. In addition, doctors working in the 13 facilities for SMID who agreed to participate in this research in 2005 were asked about signs, means of diagnosis and therapy of cancer in patients attending their facilities. They collected the required data for the participants who had cancer. Seven cancer patients were drawn from this source. The overall incidence of cancer was 2.5‰ in the SMID participants and 5.9‰ in the control subjects, which was significantly lower ( p < 0.01). The most commonly affected primary organ was the testis, whereas in the control subjects it was the stomach. The incidence of cancer of unknown primary sites in patients with SMID was 17.7% whereas primary sites were clearly identifiedin all control subjects.Five of the seven patients had clinical signs. Diagnoses were determined by blood cancer markers, computed tomography, magnetic resonance imaging, or ultrasonic examinations and pathologic examination. Five patients had undergone surgery. The differences in incidence of cancer and sites of origin between persons with SMID and control Japanese subjects indicate that a specific screening system is necessary to improve the management of cancer in persons with SMID.

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A total of 51 patients with severe motor and intellectual disabilities are enrolled by small callibered transnasal endoscopy for upper gastrointestinal bleeding. The clinical backgrounds, endoscopic findings, managements and outcomes of these patients were compaired to non-bleeding group. The ages ranged from 9 to 67 years old (mean: 33.9 years). Thirty five patients had cerebral palsy and 16 had other neuromuscular diseases. Bleeding cases were 20 while 31 with non-bleeding group. No significant differences were exist between bleeding and non-bleeding groups in concern with mean age, male and female ratio, rate of anti-acid medication, complications of hiatal hernia and gastritis. Complication of reflux esophagitis was found on 55.0% in bleeding group greater than 3.2% in non-bleeding. In patients with reflux esophagitis, 8 of 12 (66.7%) were complicated by hiatal hernia but 2 of 10 (20.0%) had less positive rate of anti-Helicobacter Pylori antibody than those without esophagitis. Mild upper gastroesophageal bleeding which was well observed in severely handicapped patients was mainly caused by reflux esophagitis.

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In recent years, the increase in antibiotic-resistant bacteria of H. influenzae, S. pneumoniae become the remedial problem. We investigated antibiotic-resistant situation for H. influenzae, S. pneumoniae isolated from the patients’ sputum who have the neuromuscular disease, which were gathered in our hospital during a period from April, 2010 to March, 2013. The frequency of isolation of β-lactamase non-producing ampicillin resistant (BLNAR) was found to be 48% in whole H. influenzae. The frequency of isolation of penicillin- resistant S. pneumoniae (PRSP) was found to be 52% in whole S. pneumoniae. In the patients who underwent the tracheal separation and patients with severe motor and intellectual disabilities (SMID), BLNAR and PRSP strains were tend to be isolated more than the others. The number of isolation of the PRSP/PISP was significantly higher than PSSP in S. pneumoniae isolated from SMID. The appropriate usage of antibiotics and vaccines is needed to prevent the antibiotics resistance and to protect from serious infection.

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Treating respiratory problems in patients with neuromuscular diseases requires pulmonary rehabilitation that is customized to each individual based on an evaluation of their respiratory function. In addition to assessment of ventilatory mechanics such as lung capacity and peak cough flow, it is important to assess breathing intolerance. The Breathing Intolerance Index (BITI) was proposed as a method for quantifying breathing intolerance. We examined long-term changes in BITI in patients with neuromuscular diseases and investigated the efficacy of BITI as an index for introducing various respiratory instruments and changing program settings in pulmonary rehabilitation. Participants were nine patients with neuromuscular diseases who underwent long-term pulmonary rehabilitation. In comparisons of the initial and final BITI assessments, seven of the nine patients showed improvement or no change, suggesting that the pulmonary rehabilitation was a success. In two patients, a pulmonary rehabilitation program was started or revised based on the BITI assessment, after which their BITI score improved. BITI may therefore be a useful index for starting or revising pulmonary rehabilitation. Further studies are needed to determine the best assessment and measurement periods.

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This study aims on the general life of parents' who have patients with severe motor and intellectual disabilities (SMID) at home, to understand their quality of life. We conducted a survey consisting of WHO QOL26 (26 items in four areas: physical, psychological, social, and environmental), SF-8 (8 items: overall sense of well-being, physical function, daily role function, body pain, vitality, social life function, mental health, and daily role function), and a free description of “daily life.” Next, we performed a simple tabulation on the results. When we compared the parents' average value with the national average value, the parents' QOL revealed a low value as a whole. In the physical area of WHO QOL26, the difference between the parents' average and the national average was the greatest in “pain and discomfort” (parents' average 3.2 ± 1.0; national average 4.1 ± 1.0) and “sleep and rest" (parents' average 2.2 ± 0.8; national average 3.1 ± 1.0), followed by “movement ability” ( parents'average 2.6 ± 1.0; national average 3.3 ± 1.1). In the survey using SF-8, the “social life function” (parents' average 40.0 ± 10.0; national average 50.1 ± 6.9), which represents relationships with family and friends, was the lowest, followed by “body pain” (parents'average 42.6 ± 8.8; national average 51.4 ± 8.4). From the parents'descriptions, their problems were revealed in more concrete terms, i.e., “no free time,” “care burden,” “fatigue is nearing the limit of physical ability,” “not enough sleep,” and “no purpose in life.” All of the points covered above may not be definitely needed for the quality of life of parents who have patients with SMID at home, but a “healthy life true to oneself ” is an important issue for everybody. Study results suggested the need for warm support with the aim of improving the parents' quality of life.

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The purpose of this research was to examine the effects of intervention activities such as singing and touching patients with severe motor and intellectual disabilities (SMID). Their bodily state, such as behavioral reactions and heartbeat reactions were comprehensively evaluated, and the effects of continuous intervention activities were also explored. The intervention activities mainly evaluated their physical condition before and after calling their names and playing or singing music. Their heartbeat interval and behavior were recorded. Music conditions were singing, touching, and singing while touching. Each of these was done at 60 and 120 tempos. Analysis of changes in their pulse rates showed that these intervention activities resulted in remarkably lower pulse rates in all three subjects, especially from the combined singing and touching. Therefore, it was presumed that the combination of sensory stimulation by music with sensory tactile pressure stimulation by touching is effective in altering heartbeat reaction. We also found cases where certain behavioral expressions with movements matched the heartbeat reactions. These findings suggest the possibility that the mental state of a patient with SMID can be inferred from their behavioral aspects, and indicates the importance of appropriate intervention activities.

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This report concerns a 59-year-old female with severe motor and intellectual disabilities who was successfully treated with a mildly carbohydrate-restricted diet. Weight gain and the onset of type 2 diabetes had occurred despite a calorie-restricted diet. Her fasting and postprandial glucose levels were 140 mg/dl and >200 mg/dl, respectively, and mild hyperlipidemia was evident. Administration of anti-hyperglycemic drugs was contraindicated due to this patient's inability to communicate the onset of symptoms associated with a hypoglycemic event.Therefore, the amount of rice and bread she consumed was reduced, resulting in her daily carbohydrate intake being lowered from 145 g to 126 g. However, her total caloric intake increased from 900 kcal to 1000 kcal following an increased fat intake. After three months on the lower-carbohydrate diet, her serum glucose concentrations decreased to <120 mg/dl after fasting and were <150 mg/dl 2 hours after meals. Despite the increase in total calories and fat intake, the patient's body weight decreased and her serum lipid profile improved. No significant adverse reactions were observed during 18 months on this diet. A lower-carbohydrate diet is thought to also be effective for patients with severe motor and intellectual disabilities who are obese and have type 2 diabetes, although the long-term safety of the diet remains unclear.

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It has been reported that the placement of a speech valve (SV) can reduce the inflow of saliva in the trachea of patient with a simple tracheotomy who require frequent intratracheal suctioning of saliva in the trachea. We placed an SV on one such patient residing at our institution, with the following results. (1) A rise in percutaneous arterial oxygen saturationwas achieved and maintained stably. (2) Daily urinary output increased. This may be a result of a decrease in the inflow of saliva into the trachea and/or of intratracheal suctioning volume. (3) In a survey of family members and ward staff, many felt that there was less tension and more smiling and that being able to hear vocalizations promoted communication, indicating an increase in thepatient's quality of life (QOL).Nevertheless, the SV was not able to stop the flow of saliva into the trachea completely, suggesting that sufficient phlegm expulsion and respiration monitoring are still required even with the SV. While it may be dangerous to use an SV with insufficient understanding of the mechanisms for patients with a tracheal cannula without a side hole, ward staff training and dialogue may enable safe use of SVs in institutions and help raise the residents' QOL.

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We report a patient with a foreign body in the esophagus for two months that was endoscopically-removed. A 15-year-old patient with ring chromosome 14 syndrome presented for routine follow-up visit. She could not have meaning words placed to Oshima classification 1. Upon physical examination, she presented with sweating, tachycardia, and swelling on the anterior aspect of the neck. Her thyroid function was normal. Even after follow up for two months, her condition did not improve. Therefore, she was referred to our hospital. Neck computed tomography revealed a foreign body within the esophagus, and endoscopic-removal was performed. Subsequently, tachycardia and sweating improved. Foreign body ingestion in patient with severe motor and intellectual disability is difficult to diagnose because of the patient’s inability to communicate owing to the severe cognitive impairment. Thus, the diagnosis is delayed and the condition may progress in severity. It is therefore important that a detailed interview of the family is conducted, in case with similar presentation, ingestion of a foreign body should be considered as a differential diagnosis.

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Many patients with severe motor and intellectual disabilities (SMID) present with digestive symptoms such as nausea, vomiting and abdominal bloating. The causes of these symptoms are many-varied, and appropriate diagnosis and treatment methods are needed. We hereby report on a 33-year-old woman with SMID who died suddenly about one day after onset of nausea and abdominal bloating. She was confirmed to have abdominal bloating, dehydration, increased inflammatory response, multiple organ failure, mixed acidosis and hyperamylasemia. Abdominal x-rays confirmed distension due to the accumulation of air in the stomach and lower right intestinal tract. Autopsy revealed the main cause of death to be acute necrotizing pancreatitis and peritonitis. The suspected causes of pancreatitis were valproic acid drug-induced symptoms and gastric dilatation due to laryngotracheal separation surgery and fundoplication and gastrostomy surgery. These surgeries are being performed on an increasing number of patients in recent years, and the above potential complications should be noted.

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