No To Hattatsu最新文献

Object: Improving quality of life (QOL) is one of the most important therapeutic goals for children with attention-deficit hyperactiv- ity disorder (AD/HD). The aim of this study was to measure QOL in AD/HD children without comorbidity and to examine associations between QOL and clinical symptoms of AD/HD for targeting early intervention.

Methods: Twenty-two enrolled patients and their parents completed the Questionnaire for Measuring Health-Related Quality of Life in Children (KINDL-R). Patients and teachers completed AD/HD rating scale-IV. Associations between QOL and clinical symptoms were assessed using t tests and correlations.

Results: Mean total score of the self-reported KINDL-R was 70.8. No difference in total QOL score was seen between AD/HD children and controls; however, the self-esteem subscale rated by AD/HD children was significantly higher than that of controls (p < 0.001). Total KINDL-R score correlated negatively with AD/HD rating scale-IV rated by teachers (p < 0.05). A difference was observed between AD/HD children in a lower QOL group and their parents in a subscale regarding QOL at school.

Conclusions: These findings suggest that evaluation of QOL in AD/HD children without comorbidity is useful for identifying AD/HD children who might benefit from early intervention.

Intrathecal baclofen (ITB) therapy is popular for the management of intractable spasticity. In 2007, the indications of ITB therapy expanded to include spasticity of children in Japan. In this report, we assessed the utility of radioisotopic scintigraphy in the diagnosis of failed ITB therapy. A 7-year-old boy with schizencephaly, hydrocephalus, and spastic quadriplegia had an ITB pump implanted. In his infancy, he had undergone ventriculoperitoneal shunt implantation. One month after the ITB operation, the ITB therapeutic effect diminished. Several examinations confirmed that the pump function was normal and catheter failure had not occurred. However, radioisotopic scintigraphy revealed that the baclofen had been washed out to blood circulation more rapidly than is typically observed. We considered two possible causes for this; obstruction of the cerebrospinal space due to kyphosis and excessive washout of celebrospinal fluid through the ventriculoperitoneal shunt. The catheter was moved to a more caudal site surgically, and his spasticity improved. The use of radioisotopic scintigraphy to identify the distribution of baclofen is an effective technique for investigation of baclofen pump system malfunction.

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.

Objective: Topiramate (TPM), lamotrigine (LTG), and levetiracetam (LEV) are three new-generation antiepileptic drugs (AEDs) which have recently come into use in add-on therapy for refractory childhood epilepsy in Japan. The aim of this study was to evaluate their efficacy and tolerability, and to clarify the role of these three AEDs in childhood epilepsy therapy.

Methods: Three separate audits were conducted between July 2007 and July 2012. All patients studied had epilepsy refractory to other AEDs. Efficacy was confirmed if a patient became seizure-free or achieved > 50% reduction (50% responder rate: 50% RR) in seizure frequency for 12 months after starting add-on therapy.

Results: A total of 55 children received TPM, 44 LTG, and 38 LEV. The 50% RR of partial epilepsy was 31.8% for LTG, 41.8% for TPM, and 52.6% for LEV. The 50% RR of generalized epilepsy was 28.6% for LTG, 26.7% for TPM, and 44.4% for LEV. The incidence of adverse events was 9.1% for LTG, 43.6% for TPM, and 15.8% for LEV.

Conclusion: LEV was the most effective of the three add-on therapies in refractory childhood epilepsy with partial and generalized onset. Regarding seizure-free, TPM was more effective than the other therapies, but it had many side effects. LTG tended to be more effective for generalized epilepsy, particularly idiopathic epilepsy, than partial epilepsy. We conclude that it is necessary to develop a treatment plan for pediatric epilepsies after considering the advantages and disadvantage of these new AEDs.

Artificial respiration by tracheostomy is necessary for long-term survival in spinal muscular atrophy (SMA) Type I patients. There are two types of tracheostomy: i )simple tracheostomy and ii) tracheostomy plus aspiration prevention surgery, including laryngotracheal separation. We experienced three cases of SMA type I patients that had good outcomes after undergoing laryngotracheal separation. The patients' ages at onset were 14 days, two months and one and a half months. Laryngotracheal separation was performed at five months, seven months, and 15 years and five months respectively, and the times from diagnosis to surgery were a month, three months and 15 years. The aspiration pneumonia disappeared in all three cases. This study suggests that laryngotracheal separation is an effective surgery to prevent aspiration in SMA type I cases, and also contributes to the improved quality of life of patients and their families.

In this study, we investigated the cognitive processing and language abilities of a 13-year-old boy with moderate periventricular leukomalacia (PVL), spastic diplegia and exotropia who had discrepant scores in the verbal intelligence quotient (VIQ) and performance intelligence quotient (PIQ) in the Wechsler Intelligence Scale for Children, third edition (VIQ; 82 > PIQ; under 40). In the Kaufman Assessment Battery for Children and Das-Naglieri Cognitive Assessment System, his performance was poor at simultaneous processing compared to sequential processing. He could not copy three-dimensional figures, and he could place only two out of eight blocks correctly in the second level models of Benton three-dimensional block construction test, showing visuospatial impairment typical of patients with PVL. Despite the relatively high score in VIQ, there was a gap among the scores of the subtests in the Illinois Test of Psycholinguistic Abilities. He tended to get low scores in tests that required visual abilities. In addition, there was also an impairment in reading fluency tested by the Diagnostic Criteria and Medical Guideline for Specific Developmental Disorders. He was much less fluent in reading syllables, words or sentences (6.0 SD or more compared to 12-year-old boys). The relatively higher score in VIQ superficially suggests adequate language ability. However, in the present study, precise investigation revealed some discrepancies even within the field of language. Thus, defining stronger and weaker points of a patient is important in order to determine optimal medical or educational approaches.

Objective: To evaluate the long-term effects and tolerability of levetiracetam (LEV) in refractory epilepsy.

Methods: LEV was administered to 76 patients whose seizures were inadequately controlled by their current medications. The patients were followed for a minimum of 18 months but less than 2 years. The efficacy of LEV treatment was assessed retrospectively as the proportion of patients who experienced at least a 50% reduction in the frequency of seizures (50% RR), and adverse events were analyzed.

Results: The 50% RR in all 76 patients was 42%. The 50% RRs in the 54 patients with localization-related epilepsy and in the 20 patients with generalized epilepsy were 42% and 35%, respectively. The patients who responded most remarkably to the therapy, with at least a 75% reduction in the frequency of seizures, were more often those with localization-related epilepsy. Among adverse events, irritability and hyperactivity/impulsivity were observed more frequently in this study than in previous reports. These events were observed predominantly in patients suffering from autism or attention deficit hyperactivity disorder (AD/HD) as a comorbidity. γ-GTP values were improved in 14 of 17 patients whose values prior to beginning LEV treatment were higher than the normal range. This beneficial effect presumably resulted from a dose reduction or the discontinuation of other hepatotoxic antiepileptic drugs.

Conclusions: LEV was useful for the treatment of refractory epilepsy, and long-term efficacy was demonstrated. LEV also appeared to be less hepatotoxic. Behavioral changes should be monitored carefully when LEV is administered to patients with concomitant autism or AD/HD.

The primary cilium is an immotile organelle protruding from the cell surface in almost all vertebrate cells. Many molecules inside the primary cilia coordinately play a pivotal role, so genetic defects of these components result in diverse congenital malformations of the brain, eye, liver, kidney, and skeleton. Hedgehog signaling is a highly conserved pathway regulating morphogenesis in early development and tumorigenesis postnatally. Recently, advanced molecular biology has revealed that components of hedgehog signaling such as PTCH1, SMO, and GLI specifically translocate within the primary cilium upon the ligand binding of the hedgehog protein, and transduce the biological growth signal from the cell surface to the nucleus. Haploinsufficiency of the components in the primary cilium would inhibit the hedgehog pathway, resulting in developmental anomalies like ventral neural tube defects. Since the hedgehog-dependent pathway is critical for vertebrate development, it is crucial to elucidate the functional roles of hedgehog-related proteins in the primary cilium.