We prospectively examined the natural history of children who suffered a first unprovoked seizure (FUS). Forty-five children who suffered a seizure without any detectable precipitating factors were enrolled in this study. Absence seizure, myoclonic seizure, and epileptic spasms were excluded from this study. They were followed for at least 2 years without anti-epileptic medications in 43 cases (2 were given drugs). Thirty patients (66.7%) had another seizure during follow up. Of the 30 patients with recurrence, 11 suffered the second seizure within 1 month, 19 within 3 months, 24 within 6 months, 26 within 1 year, and 30 within 2 years. Occurrence of generalized convulsions, a past history and family history of febrile seizures, epileptic discharges on the EEG (especially a diffuse pattern), and developmental delay prior to the FUS were risk factors for seizure recurrence. Up to one third of the patients had no more recurrent seizures during the next 2 years, so it seems reasonable to follow FUS patients without medication.

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We studied clinical features of 5 patients with subacute encephalitis/encephalopathy with residual cognitive deficit. In all patients, impairment of consciousness was mild at the onset, progressed between 4 and 15 days after the onset, and reached its peak at 6-18 days after the onset. Neuroradiological or electrophysiological examinations at the onset showed normal or mildly abnormal findings. In accordance with the clinical deterioration, brain atrophy was detected on cranial magetic resonance imaging (MRI) in 3 patients, and electroencephalogram revealed slowing of the background activities in all patients. Single photon emission computed tomography (SPECT) showed hypoperfusion in the fronto-temporal areas in all patients at the recovery stage. Three patients had severe mental deficits, and the other two had mild cognitive deficit. Motor impairment was observed in one patient.

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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.

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We used a three-dimensional video motion analysis system to evaluate techniques for inducing the Collis horizontal reaction in 46 infants (total 217 times) from 1-9 months old. Additionally, we examined the safety of different techniques for inducing the Collis horizontal reaction in 20 infants (total 66 times), from 1-3 months old, 40 times by holding the shoulder joint and 26 times by not holding the shoulder joint. Regardless of who performed the examination, the average height that induced the reaction increased from 24.3 to 34.6 cm and the average speed of reaction increased from 28.2 to 43.4 m/s as the age of the infants increased. Additionally, when the Collis horizontal reaction was induced in infants 1-3 months old by holding the shoulder joint
of infants, the average fall angle of the head was 7.291° and was not significantly larger than when the reaction was induced by not holding the shoulder joint, which resulted is an average fall angle of the head was 19.302°. However, although the average speed to support the body increased, the fall angle of the head did not increase when the shoulder joint was held.
The Collis horizontal reaction is usually not performed in early infancy before head control is acquired, because of the burden to neck caused by the fall of the head and the excess expansion of shoulder joint capsule. However these results suggest that when performing the Collis horizontal reaction in early infancy before head control is acquired, the Collis horizontal reaction can be safely performed by holding the shoulder joint, regardless of the skill of the diagnostician. Therefore, the Collis horizontal reaction is an excellent method to assess infant development, and can be performed at the usual infant health examinations.

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At four months old, infants of 72% challenged with the Collis horizontal reaction touch the floor with the back of their free hand. As the infants grow older, the ratio of infants that open their free hand and perform a support reaction increases from 0% to 100%. At nine months old, all infants perform this support reaction with their free hand palm-side down.
To assess infant development more accurately, we used a three-dimensional video motion analysis system to evaluate upper limb movement in 38 infants (total 151times) from 4-9 months old during the second and third phases determined by the Collis horizontal reaction. By analyzing the constituent components of upper limb movement during the Collis horizontal reaction, we assessed the usefulness of the reactions as an objective tool to measure developmental changes in infants.
During the analysis, we thought to assess the speed of the upper limb reaction was respect to pronating the forearm, supporting the body with the palm down, and location of their free hand. The analysis shows that if development progresses normally and infants pronate the forearm to support the body with the palm down, the central value at which their free hand is located moves to a point under the shoulder.
The results suggest that in infants four to nine months old, the Collis horizontal reaction is an excellent method to assess not only the present physical development level, but also future physical development attainment by only evaluating developmental changes of upper limb movement only.

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[in Japanese]

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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.

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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.

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We studied pitting of the dental enamel in cases of tuberous sclerosis complex (TSC), by staining defect sites. Many pits were found in the enamel of the TSC patients, especially on the labial surface of the incisors. Although the pathogenesis is unclear, pits of this type have been reported in TSC patients, but in the author's experience, have never been observed in cases of other diseases. On the basis of the results in this study and those previously published, we conclude that dental enamel pitting is a finding which suggests the diagnosis of TSC.

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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.

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[in Japanese]

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