Validity of bioelectrical impedance analysis to estimate body composition in patients with severe motor and intellectual disabilities.

Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study

Kidney transplantation (KT) in children and adolescents with severe motor and intellectual disabilities (SMID) has been a topic of controversy. A multicenter study in Japan showed that KT was not contraindicated for children with multiple handicaps, but no consensus has been reached on KT for patients with SMID. This study aimed to determine whether KT is a viable treatment option for children and adolescents with SMID. A single-center, retrospective study was conducted on children and adolescents with SMID who underwent KT. SMID was defined based on Oshima's classification. Clinical information was collected through a review of medical records. Of 453 children and adolescents who underwent KT between 1983 and 2023 in our institution, six (1.3%) patients with SMID were identified. One patient received KT twice. All patients underwent living KT. Five patients used medical devices, including gastrostomy and a ventriculoperitoneal shunt, prior to KT. Perioperative complications, including hemothorax related to central venous catheter insertion, ventilator-associated pneumonia, and common iliac artery thrombosis requiring graftectomy, occurred in three patients. One patient required vesicostomy owing to refractory urinary tract infection. There was no significant difference in the graft survival rate between patients with SMID and those without SMID. One patient developed graft failure and died after selecting conservative kidney management. Our study showed a favorable graft survival in children and adolescents with SMID who underwent KT. Although careful perioperative management and continued medical care are required, KT may be a viable option for these patients.

Interaction with individuals with severe motor and intellectual disabilities and nurses' positive mental well-being.

Sudden death associated with patients with severe motor and intellectual disabilities (SMID) have been thought to be caused in part by venous thromboembolism (VTE), but actual situation of VTE in SMID is not clear. We examined the prevalence and location of deep venous thrombosis (DVT), and the relation of the development of crural veins in 16 patients with SMID, using ultrasonography. The maximum diameter of soleal vein was 1.6±0.5 mm. In most cases, DVT was found in the femoral veins. We could not detect thrombus in the soleal veins. In the present study, the detection ratio of DVT was high in patients with SMID who had restricted mobility capability and were bedridden, and we found the veins centrally from popliteal veins in DVT in SMID, not soleal veins, as the initial sites of the DVT. In the literature, the mean diameter of soleal veins, in healthy adults is 6.7±1.8 mm, that in contrast in SMID being smaller. Underdevelopment of intramuscular veins is possibly related to the mechanism of DVT in SMID. In the current guidelines for the management of VTE, there is limited in scope of ambulatory adults and no application cases who exhibit to SMID restricted mobility of the lower extremities and are bedridden associated with cerebral palsy and developmental motor disabilities, and such patients have associated high risk of the complications of DVT. According to our present study, it is necessary to provide appropriate guidelines for DVT in SMID considering characteristic features. (This is a translation of Jpn J Phlebol 2017; 28: 29–34.)

Effect of aging on autonomic function in individuals with severe motor and intellectual disabilities

Creatinine-to-cystatin C ratio estimates muscle mass correlating the markers of the patients with severe motor and intellectual disabilities

Severe motor and intellectual disabilities (SMID) syndrome is a heterogeneous group of disorders with severe physical disabilities and mental retardation. Higher incidence of sudden death is also known in these patients. However, little is known about the cardiovascular features of patients with SMID. We examine the patients with severe motor and intellectual disabilities using echocardiogram and clarify their characterization of ventricular function. We performed electrocardiographic and echocardiographic analyses in SMID patients. In all patients, two-dimensional echocardiography with tissue Doppler analysis in the pulsed Doppler mode was performed. Of 121 patients, 104 patients had abnormal findings: 81 had poor R-wave progression, and 15 patients had low-voltage QRS on ECG. These findings strongly correlated with the degree of physical disability. However, on echocardiography, most patients had LVEF in the normal range, while LV Tei indices were significantly higher (0.43 vs 0.31 cm/s) and left ventricular end-diastolic dimension significantly smaller than healthy controls (P<0.05 for each comparison). Patients had significantly decreased early diastolic tissue Doppler velocities at the lateral mitral (5.3 vs 6.7 cm/s), tricuspid (6.7 vs 9.2 cm/s), and septal (5.9 vs 8.8 cm/s) annuli compared with controls (P<0.05 for each comparison). We show for the first time that SMID patients have low E/Ea ratios on tissue Doppler imaging while LV contractions are normal, suggesting the existence of latent diastolic dysfunction. This may be one of the reasons why the incidence of sudden death is higher in SMID patients.

Radiofrequency echographic multi-spectrometry-based measurement of bone mineral density in patients with severe motor and intellectual disability: An opportunity for patients with severe scoliosis and hip dislocation

PurposeThe present study aimed to examine the characteristics, outcomes, and problems related to surgery for acute abdomen in adult patients with severe motor and intellectual disabilities (MID).MethodsThe clinical records of 35 adult patients with severe MID who received emergency surgery for acute abdomen between 2011 and 2020 were reviewed.ResultsThe median duration from onset to surgery was 48 hours. There were 2 cases of in-hospital mortality (5.7%), and all the patients underwent surgery more than 72 hours after onset. The in-hospital mortality rate was significantly higher in patients who received surgery later than 72 hours after onset. Bowel obstruction was the most common disease among the acute abdomen cases (71.4%) and most often involved volvulus of the small bowel and cecum. Of the patients with bowel obstruction with severe MID, 72.0% had abdominal distention, 16.0% had abdominal pain, and 4.0% had vomiting. The median duration from onset to surgery was significantly longer in the patients with bowel obstruction with severe MID than in those without severe MID (24 hours vs. 16 hours).ConclusionAcute abdomen in patients with severe MID was often due to bowel obstruction caused by volvulus. Because patients with severe MID have few symptoms, they are susceptible to adverse surgical outcomes associated with a prolonged duration from onset to surgery.

Skin temperature responses to cold stress in patients with severe motor and intellectual disabilities

In Japan, it is common practice to involve grandparents in the care of children with severe motor and intellectual disabilities (SMID), as it may be difficult for nuclear families to handle such children by themselves. This study aimed to explore and describe the process through which the grandparents of children with SMID may be involved in their upbringing. Data were obtained via semi-structured interviews with 13 grandparents who had a grandchild with SMID. The collected data were examined using Yasuhito Kinoshita’s modified grounded theory approach. Altogether, 11 categories were identified from 29 themes. The results revealed two broad patterns concerning the nature of the grandparents’ involvement and their definition of grandparenthood in the context of raising a grandchild with SMID. In one process, grandparents supported the child’s family. They also learned to relate to the child and their family, despite experiencing a lack of responsiveness from the child initially. This ultimately resulted in them being inspired by their grandchild. In the other process, the grandparents left the care of their grandchild to the child’s family and chose to monitor the child’s welfare indirectly. In both the processes, the level of involvement was determined by the extent to which the family chose to ask grandparents for help. The study’s findings can be used to identify the kind of support that grandparents of children with SMID require while highlighting the role of considering the needs and intentions of the children’s families.

Home care for children with severe motor and intellectual disabilities (SMID) is challenging for parents because it is highly intensive and long-lasting. The pursuit of happiness is an essential goal for everyone. However, only a few studies have focused on the happiness of families with such children. The study aimed to examine the subjective happiness of parents of children with SMID receiving home care and identify the factors associated with their happiness. We conducted a cross-sectional online questionnaire-based survey of 23 parents of children with SMID and nurses with children without disabilities as controls at Tottori University Hospital,Yonago, Japan from July 1 to August 31, 2023. We set the subjective happiness scale (SHS) scores as the outcomes. We used the Mann-Whitney U test to compare the SHS scores between the two groups. Moreover, we extracted the clinical and demographic factors affecting the SHS scores of parents of children with SMID using univariate linear regression analysis. We obtained responses from 12 parents with SMID and 105 controls. The average SHS scores of parents with SMID and controls were 4.8 and 4.7, respectively, and both groups did not differ significantly. Univariate analysis showed that parental male sex and the presence of a tracheostomy were negatively associated with the SHS scores of parents. The SHS scores did not differ significantly between parents with SMID and controls. However, more attention seemed necessary for fathers and parents of children who have undergone tracheostomies. Given the exploratory nature of this study and its small sample size, larger-scale investigations are warranted. Additionally, qualitative research conducted after establishing trustful relationships could provide further insights.

Children with severe motor and intellectual disabilities (SMIDs) frequently and continuously receive enteral nutrition and medications and lack adequate exercise, which may lead to dysbiosis, an imbalance in the composition of the gut microbiota. However, studies on the composition of gut microbiota in children with SMIDs are limited. Therefore, we aimed to examine the characteristics of the gut microbiota in children with SMIDs. 16S rRNA gene sequencing was performed using fecal samples of 10 children with SMIDs, who received enteral nutrition through a gastric fistula or gastric tube (SMID group: median age, 10.0 years), and 19 healthy children (healthy control [HC] group: median age, 9.0 years). Microbial diversity, microbial composition, and abundance of butyric acid-producing bacteria were compared between the groups. Daily dietary fiber intake in the SMID group was evaluated using questionnaires. The Shannon and Simpson indices (alpha diversity indices) were significantly lower in the SMID group than those in the HC group. Beta diversity analysis identified different clusters. Compared with the HC group, Clostridiales and butyric acid-producing bacteria were less abundant and Bacteroidales were more abundant in the SMID group. Dietary fiber intake in the SMID group was approximately two-thirds of the estimated average requirement for healthy Japanese children. Children with SMIDs showed dysbiosis with alteration in the microbial diversity, which could partly be attributed to their low dietary fiber intake. Further studies, with the intervention of prebiotics, probiotics, and synbiotics, are warranted to improve dysbiosis in children with SMIDs.

Resting energy expenditure prediction using bioelectrical impedance analysis in patients with severe motor and intellectual disabilities

A study of oxidative stress and the newer antiepileptic drugs in epilepsy associated with severe motor and intellectual disabilities