[Relation between psychological development and respiratory management in patients with congenital central hypoventilation syndrome in Japan].

OBJECTIVE: To evaluate the psychological development of patients with congenital central hypoventilation syndrome (CCHS). METHODS: We performed a questionnaire-based survey of 17 patients with CCHS aged over 7 years and assessed their clinical course, respiratory management, and psychological development. RESULTS: CCHS was present at birth in 15 patients, of which eight presented with respiratory failure with a low Apgar score. Twelve patients required mechanical ventilation with intubation, and five received mask ventilation. All patients with intubation underwent tracheostomy between 1 and 12 months of age (median 5.5 months), and most of them had associated conditions such as Hirschsprung disease. Four of 12 patients with intubation were eventually switched to mask ventilation and one to diaphragm pacing and mask ventilation. The patients undergoing mask ventilation had relatively milder disease severity and had fewer complications than did the patients with intubation. The psychological development of patients who received tracheostomy ranged from normal to severe retardation. Retardation was more likely to be severe in patients who received tracheostomy in late infancy. All patients who received mask ventilation experienced borderline to moderate psychological retardation. This effect could be attributed to poor compliance with mask fitting. CONCLUSION: Our findings suggest that the psychological development of CCHS patients was influenced by hypoxia; tracheostomy and strict respiratory management since the neonatal period were needed for neurological protection.

[Evaluation of serum total carnitine values in persons with severe motor and intellectual disabilities with enteral (tube) feeding].

OBJECTIVE: The nutritive evaluation and the serum carnitine values were measured for persons with severe motor and intellectual disabilities with enteral (tube) feeding. METHODS: In Shimada Rehabilitation Center, twenty one people who had serum albumin levels of 3.4 g/dl or less, and were taking nutrition with enteral (tube) feeding, were tested. Body weight, blood samples, and serum carnitine levels were measured. RESULTS: The total carnitine value was less than the standard value in 19 patients. The total carnitine value decreased in the group taking valporate sodium (VPA), compared to the values from the group non-taking VPA. CONCLUSIONS: From our evaluation, we think that daily carnitine supplements is essential for persons with sever motor and intellectual disabilities taking VPA to maintain carnitine levels in the blood, and regular urine test should be done for earlier detection secondary lack complications from the secondary lack of carnitine.

Reduced prefrontal hemodynamic response in children with ADHD during the Go/NoGo task: a NIRS study.

The current study examined the hemodynamic response during the Go/NoGo task in children with/without attention deficit/hyperactivity disorder (ADHD). Using near-infrared spectroscopy, oxy-Hb and deoxy-Hb concentration changes in the frontal areas were compared during the conditions with/without inhibitory demand. Compared with typically developing children, children with ADHD showed significantly reduced activation during the conditions with inhibitory demand (NoGo-condition) in the frontal areas. However, no significant differences in activation during the conditions without inhibitory demand (Go-condition) were found between the two groups. The current findings revealed that children with ADHD exhibit an altered hemodynamic response specifically during response inhibition, but not during response execution, and suggested the clinical usefulness of near-infrared spectroscopy for the evaluation of response inhibition deficits in children with ADHD.

[H reflex in patients with spastic quadriplegia].

Hoffmann reflex (H reflex) is an electrically elicited spinal monosynaptic reflex. H reflex was examined in 18 patients with spastic quadriplegia who had perinatal or postnatal problems. H reflex was elicitable in 11 patients for the abductor pollicis brevis (61.1%), 10 for the abductor digiti minimi (55.6%) and 16 for the abductor hallucis (88.9%). Because the abductor pollicis brevis and the abductor digiti minimi do not exhibit H reflex in normal subjects, it was suggested that the excitability of alpha motor neurons innervating these muscles was increased. H reflex was not detected for the extensor digitorum brevis in any patients, indicating the difference in the excitability among alpha motor neurons. In some patients, H reflex did not disappear under supramaximal stimuli. We conclude that the mechanism of evolution of H reflex in patients with spastic quadriplegia is different from that in normal subjects.

[The present situation of children with psycho-motor disabilities and their parents].

We examined the present situation of children and adolescents with psycho-motor disabilities, and their parents by means of a questionnaire survey. The survey was conducted on the family members of outpatients, 116 males and 86 females. About half the patients were older than 15 years of age. The families of 128 patients did not use a home help service such as home nursing or a regional care service. Many family members had chronic ailments. The families of only 45 patients expressed that it would be better if their children would live in a care home in the future. We must develop a versatile system with social support and medical care for such cases.

[Setting up of a day group service system for severely disabled children, the "Koala Club"].

This is a report of the setting up of a day group service system for severely disabled children, the "Koala Club". The "Koala Club" was started in 1993, and has been running outside of the hospital since 1997. A support group for the "Koala Club" was established in 1999. Currently 13 children attend the "Koala Club". The staff of the "Koala Club" consists of one coordinater, four nurses and eight care workers. The medical care is fulfilled by nurses. The "Koala Club" open two days a week. It has been supervised by a doctor and a case worker. There is an important role for physicians in the regional care of disabled children.

Selective mutism and obsessive compulsive disorders associated with zonisamide.

We treated 27 children with idiopathic epilepsy with zonisamide monotherapy over a period of 2 years and observed behaviour disturbances in a prospective study. In all cases, seizure control was excellent; however, two cases (7.4%) had behaviour disturbances. The first (Case 1) was a 14-year-old girl with partial epilepsy which began at age 4 years. Zonisamide was administered at age 6 years, which was effective against her seizures, but selective mutism, violent behaviour, and lack of concentration developed at age 10 years. The second (Case 2) was a 15-year-old girl with generalized tonic-clonic seizures which began at age 10 years. Zonisamide was also effective against her seizures, but obsessive compulsive disorders (OCD) developed at age 13 years. The patients have had no other physical or mental problems and decreasing the dosage of zonisamide reduced the problems. There are few reports of behaviour disturbances provoked by zonisamide monotherapy in epileptic children who are neither physically nor mentally disturbed. While problems can develop several years later, in the present study, decreasing the zonisamide dosage maintained adequate prevention of seizures and eliminated the behaviour disturbances. Zonisamide is still a useful anticonvulsant for epileptic seizures, but physicians should be wary of its adverse behavioural side effects, which may arise several years later.