Tracheomalacia in patients with severe motor and intellectual disabilities

A total of 18 patients with severe motor and intellectual disabilities are reported, including 17 identified as having tracheomalacia (TM) by bronchofiberscopy and 1 suspected case. The clinical backgrounds, bronchoscopic findings, managements and outcomes of these patients were studied. The ages ranged from 2 to 41 years old (mean : 22.8 years). Fourteen patients had cerebral palsy and 4 had other neuromuscular diseases. More than 80% of the patients had flattening of the thoracic cage, scoliosis, and recurrent respiratory infections. Bronchofiberoptic videoscopy revealed a mean 73.6% narrowing of the trachea, and 3 cases had 100% obstruction. The crescent type and a newly identified flat type of TM were observed, but there was no saber-sheath type. Attacks of cyanosis and transient or sudden respiratory difficulties were important symptoms for TM in 13 cases. TM may cause sudden death in these patients. Tracheostomy may be recommended for severe cases with TM. An adjustable tracheostomy tube improved the narrowing of the trachea significantly in 6 cases. Bronchofiberoptic videoscopy is nessesary for accurate evaluation of TM and an adjustable tracheostomy tube may be useful for selected patients.     

Tracheostomy for home-care patients with severe motor and intellectual disabilities

We discuss here the indication and complications of tracheostomy performed in 57 home-care pateints with severe motor and intellectual disabilities (SMID) during the past 13 years at our hospital. Thirty-five cases underwent tracheostomy following emergency endotracheal intubation for acute respiratory failure. Recently, the number of cases without preceding endotracheal intubation have increased. Many patients underwent tracheostomy at the age of 1 to 4 years and 10 to 14 years. The quality of life (QOL) of almost all the patients without preceding intubation markedly improved, as well as that of their families, and they were able to return to home. The most decisive reason for tracheostomy was secretions and recurrent aspiration pneumonia in 8 patients, gastroesophageal reflux in 4 and upper airway obstructions in 3. Several complications of tracheostomy were observed: tracheal granulations in 9 patients, tracheal malacia in 8, and tracheoinnominate artery fistula in 5. Among 8 patients with tracheal malacia, bleeding from the tracheoinnominate artery fistula occurred in 3. In 7 patients, self-made long tracheostomy tubes were necessary for the initial management of the tracheal malacia or tracheal granulations. Subsequently, made-to-order long tracheostomy tubes were used in three of these patients. In 12 patients, improved endotracheal T-tube with the tip sealed on the vocal cord side was used to prevent aspiration. Home-care SMID patients with respiratory disturbance require tracheostomy timely performed, followed by careful observation to prevent postoperative complications.     

Sympathetic skin response in patients with severe motor and intellectual disabilities

To elucidate autonomic function in individuals with severe motor and intellectual disabilities, we evaluated sympathetic skin response in 14 patients with severe motor and intellectual disabilities. The results of sympathetic skin response were compared with those of patients with mild or moderate motor and intellectual disabilities who could walk and had an intelligence quotient > or = 35 (7 cases) and neuromuscular diseases (3 cases). No sympathetic skin response was recorded in patients with severe motor and intellectual disabilities, whereas all patients with mild or moderate motor and intellectual disabilities defined above and neuromuscular diseases showed sympathetic skin response. The results suggested that all patients with severe motor and intellectual disabilities had autonomic dysfunction, and sympathetic skin response can be a useful test that can evaluate autonomic function in patients with severe motor and intellectual disabilities.     

Latex allergy in patients with severe motor and intellectual disabilities syndrome

Our experience of an anaphylactic reaction to latex in a severely disabled patient led us to investigate latex allergy in 58 cases with severe motor and intellectual disabilities syndrome. Latex specific IgE, total serum IgE, and eosinophil counts in peripheral blood were evaluated, as well as past history of treatment with medical latex materials, operation and allergic disorders. Only one case who had been operated three times, had anaphylactic reaction and mild atopic dermatitis. Fifteen cases (25.9%) had latex specific IgE of class 2 or more. In this latex positive group, past history of allergic disorders, such as bronchilal asthma, atopic dermatitis and drug eruptions, were the most prominent factor. Those without such a history were characterized by frequent use of medical latex materials and multiple operations. In conclusion, the danger of an anaphylactic reaction to latex should be recognized, particularly in the medical care for disabled patients.     

Survival analysis for patients with severe motor and intellectual disabilities following tracheotomy

To investigate the survival rate and causes of death in patients with severe motor and intellectual disabilities (SMIDs) that necessitated tracheotomy, we retrospectively analyzed 90 patients who underwent tracheotomy between 1990 and 2009. Indications for tracheotomy in these patients were upper airway obstruction (44 patients), recurrent aspiration pneumonia (28 patients), retained secretions (23 patients), prolonged mechanical ventilation (18 patients), chronic respiratory failure (9 patients), central respiratory failure (5 patients), and gastroesophageal reflux (8 patients). Most of the patients underwent tracheotomy at the age of 0-5 years or 10-19 years. As of April 1, 2010, 28 patients had died. The survival rate was 0.91 at 1 year, 0.74 at 5 years, 0.59 at 10 years, 0.54 at 15 years, and 0.40 at 19 years after tracheotomy. Massive tracheal bleeding due to development of tracheo-innominate artery fistulas occurred in 5 patients, and 4 of them died. They were thirteen years of age or older when they underwent tracheotomy, and developed fistulas after 2 weeks or later. In contrast, 7 patients at high risk for fistula formation, including those that had developed severe tracheomalacia associated with granulation or warning hemorrhages, underwent preventive resection of the innominate artery, and all of them had survived. It is important to regularly evaluate patients with SMIDs who have undergone tracheotomy by using bronchofiberscopy to identify risk factors for tracheoinnominate artery fistulas, a preventable cause of death.     

Usefullness of bronchofiberscopy for difficult intubation in patients with severe motor and intellectual disabilities

In 21 patients with severe motor and intellectual disabilities, bronchofiberoptic intubation was performed because of difficulty in tracheal intubation by direct laryngoscopy. The patients ranged from 3 to 35 years old (mean age: 20.2 years). Twenty patients (95.2%) were bedridden. Among the 21 patients, 15 had cerebral palsy and 20 had hypertonia. The reason for intubation were acute respiratory failure due to pneumonia in 17 cases, suffocation after aspiration of food in 2 cases, hypovolemic shock in 1 case, and laryngotracheomalacia in 1 case. Intubation was done pernasally in 15 patients and perorally in 10. It was successful in 20 cases without any significant complications. The Cormack score ranged from 3rd degree in 4 cases to 4th in 17 cases. The 20 cases of successful fiberoptic intubation were divided into 7 patients with and 13 without tracheostomy. The mortality rate was 14.3% in patients with tracheostomy and 30.8% in those without tracheostomy. When more than 4 intubation trials were needed, there was a significantly higher mortality rate. In neurologically handicapped patients with deformity or hypertonia of the oral, cervical, or airway structures, a bronchofiberoptic procedure may be recommended when there is difficulty with intubation.     

Epilepsy in patients with severe motor and intellectual disabilities: a long-term follow-up

Long-term prognosis of epilepsy was investigated on 117 institutionalized patients with severe motor and intellectual disabilities, who were above 15 years of age in 1977, for a 20-year-period from 1977 to 1997. The incidence of epilepsy was 64.1% (75 patients), which was active in 28 patients (37.3%). The patients with the most severe psychomotor disabilities (bedridden and DQ < 20) showed the highest incidence of epilepsy (85.0%). Patients who died during the follow-up period showed higher incidence of active epilepsy (p < 0.01). During the follow-up of 94 surviving patients, persistence, relapse, and onset of seizures were frequent in patients with most severe intellectual disability, whereas those with less severe intellectual disability (20 < DQ < 35) were all seizure-free. Twenty-one patients had active epilepsy; symptomatic partial epilepsy in 17 (81.0%) and generalized epilepsy in 4 (19.0%). Notably, 5 of the 6 patients with persistent frequent seizures had age-dependent epileptic encephalopathy; persistent Lennox-Gastaut syndrome (LGS) (2 patients), severe epilepsy with multiple independent spike foci evolved from West syndrome (WS) and LGS (2 patients), and partial epilepsy with the history of LGS (1 patient).     

Complications of tracheostomy in patients with severe motor and intellectual disabilities and their management

Some patient with severe motor and intellectual disabilities have a narrow mediastinum due to severe scoliosis or thoracic deformity. Complication of tracheostomy in these patients, such as granulation of the lower end of the cannula and tracheo-innominate artery fistulae, are difficult to treat. The causes of recurrent respiratory distress after tracheostomy in four patients with severe motor and intellectual disabilities were investigated, and its management was evaluated based on chest CT and bronchoscopy. In all patients, the lower end of the cannula was in contact with the site of tracheal stenosis, accompanied by granulation with arterial pulsation. In three patients, tracheomalacia as a complication of tracheostomy was also noted. In three patients, changing the cannula to fix its lower end proximally to the lesion, combined with stent placement in one patient with tracheomalacia, resulted in regression of the granulation and respiratory distress. However, one patient with severe tracheomalacia, who had been treated by stent placement alone, died of tracheo-innominate artery fistula. To prevent complications of tracheostomy in patients with severe motor and intellectual disabilities, it is important to select cannulas with a suitable length and angle. In the absence of severe tracheomalacia, use of custom-made short cannulas that can be fixed proximally to the site of stenosis and to the proximity of arteries are appropriate for this purpose.     

Long-term follow-up study of Lennox-Gastaut syndrome in patients with severe motor and intellectual disabilities: with special reference to the problem of dysphagia.

A long-term follow-up study of Lennox-Gastaut syndrome (LGS) ( > 10 years) was conducted with 38 patients with severe motor and intellectual disabilities (SMID) to clarify the relationship between the rapid development of dysphagia and epileptic seizures, and to elucidate the long-term evolution of LGS in patients with SMID. Those who showed a relatively favourable seizure outcome were compared to those with a poor seizure outcome. Poor seizure outcome correlated strongly with: (a) an early appearance of dysphagia and additional deterioration of the already retarded mental function; (b) a predominance of atypical absence seizures; and (c) persistent frequent epileptiform discharges during electroencephalographic evaluations. Neither age at seizure onset nor intelligence level at the time of the last examination was correlated with seizure prognosis. Further, seizure prognosis was not related to the aetiology of LGS. Repeated seizures apparently caused development of progressive epileptic encephalopathy, in addition to the underlying severe brain damage. Since development of dysphagia burdens an already severely handicapped patient with intensive medical care, efforts to reduce the seizures and design a long-term care plan are of great importance.     

Clinical characteristics of ulcerative colitis in four patients with severe motor and intellectual disabilities

We retrospectively reviewed four patients with severe motor and intellectual disabilities (SMID), aged 8-56 years, who presented with ulcerative colitis (UC), and discussed causal interrelationships between UC and SMID. UC started at 3-50 years of age with early childhood-onset in two patients. Two patients had an intractable clinical course in which leukocytapheresis and surgery were ineffective, and resulted in steroid-dependency. We failed to find any causal relationships between infectious events, nutrition and anticonvulsants with the development of UC. However, when occult blood in feces is frequently positive in SMID patients, it is important to consider the possibility of UC and to perform an intestinal endoscopic examination.     

Pathological study of bronchospasms/tracheomalasia in patients with severe motor and intellectual disabilities

This report concerns two autopsy cases of severe motor and intellectual disabilities (SMID) who died of bronchospasms or tracheomalasia. One case had no anatomical change in the tracheal wall except for an endotracheal granuloma, while the other showed softening of the tracheal wall. Since patients with SMID have risk factors for bronchospasms and tracheomalasia, such as gastro-esophageal reflux, aspiration, and thoracic deformities, it is important that we suspect the possibility of these conditions, when we see the respiratory distress in cases of SMID.     

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

Patients with severe motor and intellectual disabilities (SMID) often suffer from autonomic nervous system disturbances. At the same time, the caregivers of patients with SMID face challenges to understand the patients’ chronic health problems effectively by simply observing them. Therefore, recognizing specific symptoms is important to improve support for SMID. We investigated the autonomic nervous function in patients with SMID with skin vasomotor responses to cold stimuli. The relationship of the results of cold stress and autonomic symptoms observed by the main caretakers was also examined. We analyzed 38 patients with SMID. Their hand skin temperature was measured before and after cold stimuli using infrared thermography. A ‘distal-dorsal difference’ (DDD) at baseline, and the recovery rate of the second fingertip and dorsum were calculated. All main caregivers filled out questionnaires evaluating autonomic symptoms. The recovery rate of the second fingertip and dorsum after cold stimuli was lower than 80% in 64% and 60% patients, respectively. The baseline DDD was greater than 1 °C in 84% of the patients. A DDD > 1 °C was associated with a reduced recovery rate. All caregivers recognized some autonomic-related symptoms. Patients with constipation or snoring demonstrated a reduced recovery rate. However, none of the observed symptoms can predict the presence of a reduced rate with cold stimuli in a statistically significant way. This study showed excessive sympathetic nerve activities in patients with SMID. The baseline DDD could be a valuable parameter accessing their microvascular circulation. To improve the life of a person with SMID, accessing autonomic function using a noninvasive method, such as thermography is warranted without directly observed symptoms.     

Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment

We attempt to evaluate the residual visual capacities of nine patients (seven males and two females; age range 4 to 35 years, mean 13.8 +/- 9.98) with cerebral visual impairment coupled with severe motor and intellectual disabilities by their contrast sensitivities to sine-wave gratings. Two methods were used for detecting the occurrence of ocular responses to stimuli: (1) detection of optokinetic nystagmus to drifting sinusoidal gratings by naked-eye observation and electronystagmography and (2) detection of ocular pursuit for a drifting Gabor patch by naked-eye observation. We succeeded in measuring the sensitivities of eight cases. For the remaining one case, only the Gabor method could be applied. Most cases showed low contrast sensitivity in both higher (2 and 4 cycles/degree) and lower (0.125 and 0.25 cycles/degree) spatial frequencies and relatively high contrast sensitivity in the middle (0.5 and 1 cycle/degree) range of spatial frequencies. We conclude that the residual visual capacities of patients with severe motor and intellectual disabilities and cerebral visual impairment can be measured fairly accurately by these behavioral methods.     

Etiology and bronchofiberscopic treatment of pulmonary atelectasis in patients with severe motor and intellectual disabilities

Atelectasis is a common respiratory complication in patients with severe motor and intellectual disabilities. We encountered 3 patients with irreversible atelectasis due to delayed therapy, emphasizing the necessity of performing flexible bronchofiberscopy. A total of 21 patients with atelectasis were studied to assess the etiology and efficacy of bronchofiberscopy. The underlying condition was bronchitis/pneumonia in 19 cases, tracheal hemorrhage in 1, and lung cancer in 1. Most of the patients had predisposing factors, such as a bedridden status in 90% and a weak or absent cough reflex in 81%. It was statistically suggested that atelectasis is likely to occur on the side contralateral to thoracic scoliosis. Among the 18 patients who underwent bronchofiberscopy within 2 weeks after the diagnosis of atelectasis, 16 (89%) showed recanalization and resultant improvement of respiratory failure. Bronchofiberscopy is useful for treating atelectasis in patients with severe motor and intellectual disabilities.     

Lithium intoxication in a patient with severe motor and intellectual disabilities

A severaly retarded 30-year-old woman developed acute lithium intoxication. Since the age of 22, she had been treated with neuroleptics for her aggressive behavior. At 30 years of age, lithium carbonate was added to arrest self-injurious behavior, at an initial dosage of 300 mg/day and a maintenance dosage of 900 mg/day. She subsequently developed anorexia and weight loss, and was admitted to our hospital. After 7 months of lithium therapy, she suddenly had a high fever (38.3 degrees C), diabetes inspidus, severe hypernatremia, and became akinetic and mute. Under the suspicion of lithium intoxication, all medication was discontinued, and mannitol to increase renal lithium clearance. She was given gradually improved over a month, but remained hypothyroid. This case shows the importance of interaction of lithium carbonate and other drugs which may cause lithium intoxication. In patients with severe intellectual disabilities who are unable to complain their symptoms, lithium therapy requires particularly close attention to signs of early toxicity.     

Videofluorographic study of swallowing in patients with severe motor and intellectual disabilities--I. Recurrent pulmonary infections

We studied swallowing movements of 8 patients with severe motor and intellectual disabilities and recurrent pulmonary infectious diseases. All the patients were orally fed with no problems, but had frequent episodes of pyrexia, mostly due to pulmonary infections. Videofluorographic studies revealed severe impairments in the transitional and pharyngeal phases. The patients aspirated liquids, most frequently during swallowing. Prior to swallowing pooling of liquid barium was frequently observed in the hypopharynx, and that of purees in the pharynx after swallowing. The delay of cricopharyngeal relaxation was also frequently observed. Based on the videofluorographic findings, we made some efforts to provide patients with evident or latent aspiration with better management: changes in food textures and posture during drinking and eating. These efforts significantly reduced the frequency of pyrexic episodes. Since latent aspiration is not uncommon among patients with severe motor and intellectual disabilities, swallowing disturbance should be evaluated in detail by videofluorographic examination to improve QOL.     

Fatal esophageal hemorrhage in patients with severe motor and intellectual disabilities complicated with severe scoliosis, during catheter placement in esophagus

In patients with severe motor and intellectual disabilities (SMID), fatal esophageal hemorrhage including penetration of the descending aorta, has often been reported. We experienced 2 patients with severe scoliosis who developed esophageal hemorrhage during catheter placement in the esophagus. We compared chest CT images of these cases with those of 38 SMID patients in our hospital. As a result, a few patients showed esophagus bending to the left of the descending aorta while the vertebral body curved to the right and the mediastinum shifted to the left. It is suggested that there is a risk of esophageal hemorrhage caused by catheter stimulation, when a catheter is placed in the esophagus in such patients. It is therefore necessary to use the thinnest and softest catheter possible and to consider the indications for gastrostomy.     

Risk factors of malnutrition in children with severe motor and intellectual disabilities

BackgroundChildren with severe motor and intellectual disabilities (SMID) are at a high risk of malnutrition and often require tube feeding to maintain their nutritional status. However, determining their energy requirements is difficult since inadequate dietary intake, severe neurological impairment, respiratory assistance, and cognitive impairment are all factors that affect malnutrition in SMID.AimThis study investigated the factors affecting malnutrition and identified problems affecting the nutritional status of children with SMID.MethodsForty-two children with SMID with oral motor dysfunction who were receiving home medical care at one of four hospitals were enrolled. Their nutritional status was assessed using a 3-day dietary record, anthropometric measurements, and laboratory tests. The clinical findings associated with malnutrition were compared, and a body mass index (BMI) z-score less than −2SD was defined as malnutrition. The relationship between BMI z-score and other potential predictors was also investigated.ResultsThirty-three (79%) children received tube feeding, and 20 (48%) experienced malnutrition. The median age of the malnourished children was older than that of non-malnourished children. Respiratory assistance was significantly correlated with higher BMI z-score, independent of other potential confounders such as nutrition method, muscle tonus, and energy intake. Cholesterol levels were significantly higher in children receiving a standard infant formula beyond 3 years of age than in those who switched to enteral formula before 3 years of age.ConclusionsMalnutrition in children with SMID was mainly associated with age or respiratory condition. Energy requirements should be regularly re-evaluated with considering these factors.     

Complications of tracheostomy in a patient with severe motor and intellectual disabilities

A patient with severe motor and intellectual disabilities, who had been admitted for a short stay, suffered cardiopulmonary arrest and was maintained on a ventilator after resuscitation. One month and 3 years after tracheostomy, arterial bleeding from the trachea occurred three times. Each time, the patient was successfully salvaged by arterial compression by hyperinflation of the endotracheal tube cuff and rapid blood transfusion. Long-term intubation caused stenosis and formation of a mucosal bridge in the trachea. After stenting failed to relieve the stenosis, laser ablation of the mucosal bridge was temporarily successful. Interruption of the brachiocephalic artery and partial resection of the sternal bone and insertion of an adjustable canula was successfully performed thereafter. This case suggests the necessity for both prophylaxis and adequate treatment of the various complications of tracheostomy.