No To Hattatsu最新文献

Objective: Resilience is defined as the dynamic process of positive adaptation despite the experience of adversity. The aims of this study were to apply the concept of resilience to the mothers of children with autism spectrum disorder (ASD), which we call "parenting resilience" for rearing a child with ASD, and to explain the construct of parenting resilience.

Methods: Interviews were conducted with 23 mothers of adults with ASD to collect data on rearing these children from infancy to adulthood. Data were analyzed using a modified grounded-theory approach.

Results: The analytic theme was the thought process from the problems associated with raising developmentally challenged children to the implementation of the appropriate coping method. We proposed a model comprising twelve concepts and five categories, i. e., "a sense of motherhood", "self-efficacy", "knowledge of the child's characteristics", "perceived social support", and "foresight". The model assumes that a sense of motherhood and self-efficacy motivate these mothers to cope with the problems associated with developmentally challenged children, and they derive the way of dealing with it from knowledge of the child's characteristics, perceived social support, and foresight.

Discussion: We suggest that the construct of parenting resilience for rearing a child with ASD is composed of the proposed categories and concepts.

Objective: We studied the effect of lamotrigine (LTG) in children/adults with severe mental retardation and behavioral problems.

Methods: We studied 10 cases with the following conditions: (1) severe or profound mental retardation, (2) various behavioral problems and troubles in daily life, (3) insufficient effects or side effects from antipsychotic drugs, (4) ongoing epileptic seizures or EEG indications of epilepsy, (5) no previous LTG administration, (6) the ability to provide informed consent. We began administering small doses and increased to a maximum dose of LTG in 50 mg/day. We determined the improvement of behavioral problems based on family and patient interviews or our medical examinations.

Results: Treatment (still ongoing) has resulted in 7 of the 10 cases showing effects of LTG. Also, 2 of the remaining 3 cases have discontinued medication due to evident changes of mood. Eight cases have showed effects with doses of 10 mg or less per day. We encountered one adult subject who seems to have realized the neuropsychological effect on recognition impairment. We speculated that this patient came to read other people's emotional changes and expected to be either criticized or directed.

Conclusions: Small doses of LTG appear to improve behavioral problems in children/adults with severe mental retardation.

Objective: The academic achievement in Japanese and arithmetic of children born with very low birth weights (VLBW) was examined by means of academic skill tests at the age of 10 years.

Methods: The participants were 14 VLBW children who could be followed up in our hospital at the age of 10 years, and 6 men and 8 women. They had a mean gestational age of 27 weeks and 6 days and a mean birth weight of 988 g. The tests of the fourth grade of Japanese and arithmetic were performed during the waiting time of outpatient. The results were compared with those in typical development (TD) children.

Results: Concerning the comprehension of Japanese, the correct answer rate as to the problems answered in their own word was 42.9 ± 51.4% in the VLBW children and 69.7 ± 46.3% in the TD children, respectively. The correct answer rate as to composition was 28.6 ± 46.9% in the VLBW children and 72.7 ± 44.9% in the TD children, respectively, that in the VLBW children being obviously low. The correct answer rate as to calculation laws of arithmetic was 55.4 ± 14.7% in the VLBW children and 66.3 ± 15.5% in the TD children, respectively. The sentence resolving as to arithmetic was 42.9 ± 50.4% in the VLBW children and 52.9 ± 50.1% in the TD children, respectively.

Conclusions: The VLBW children had difficulty in Japanese and arithmetic which required the sentence understanding, compared with the TD children.

Objective: To analyze the factors related to social functioning in school students with high-functioning pervasive developmental disorder (HFPDD), we investigated speech delay in infancy, family history of pervasive developmental disorder (PDD), intelligence quotient (IQ), strength of PDD characteristics, age, age at diagnosis of PDD, and social adaptive functioning in students with HFPDD.

Methods: Fifty-eight students with a diagnosis of HFPDD (IQ ≥ 85) were evaluated retrospectively. PDD characteristics were measured by the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), IQ was measured by the Wechsler Intelligence Scale for Children-Third Edition (WISC-III), and social adaptive functioning was measured by the Children's Global Assessment Scale (CGAS).

Results: There was a negative correlation between age at diagnosis of PDD and the CGAS score. None of the other factors examined had any significant correlation with social functioning in students with HFPDD. Age at diagnosis of PDD whose social functioning was good was significantly low.

Conclusions: School students with HFPDD who are diagnosed with PDD earlier exhibit better social adaptive functioning.

An abnormality in PCDH19 causes intractable early-onset epilepsy limited to females, and its significance in pediatric epilepsy is currently increasing. We report the case of a girl with an early diagnosis of PCDH19-related epilepsy. Focal seizures, consisting of eye deviation and asymmetrical tonic posturing, first appeared in clusters at the age of 5 months. Although each seizure was brief (less than a few minutes), seizures occurred in clusters. Cluster was observed at ages of 7, 10, 11, 14, and 19 months, respectively, and all were intractable to multiple treatments. Each cluster continued for 3 days to 2 weeks. However, no seizures occurred outsides the clusters. The pattern of seizure occurrences was characteristic of PCDH19-related epilepsy, which we first suspected when the patient was 11 months old. Genetic analysis of PCDH19 revealed two novel missense substitutions: c.1294G≥C (p.D417H) and c.1786G≥T (p.D596Y). Her psychomotor development was normal at the last follow-up at age of 1 year and 9 months. Currently, the pathogenesis and best treatments of PCDH19-related epilepsy remain unclear. However, to provide correct diagnosis and genetic counseling, and to avoid overtreatments, the possibility of this disease should be considered early in girls with intractable seizure clusters which starting during infancy to early childhood.

Objective: To investigate the protective function of Cockayne syndrome (CS) patient-derived cells against oxidative stress, we examined the sensitivity to cell death and the repair activity of DNA damages after exposure to oxidative stress in CS cells.

Methods: We used two CS cell lines, CS3BES (CSA defective) and CSIANS (CSB defective), the human cervical cancer cell line HeLa cells, and the human fibroblastic cell line RSa. Cells were exposed to oxidative stresses, such as X-ray irradiation and hydrogen peroxide treatment, and the sensitivity to cell death was examined using the colony survival assay and MTT assay. DNA lesions were analyzed using the comet assay.

Results: CS3BES and CS1ANS cells showed higher sensitivity to cell death induced by X ray and hydrogen peroxide than HeLa and RSa cells. Furthermore, after exposure to the stresses the levels of DNA damage were higher, or repair activity was lower in CS3BES cells when compared with HeLa cells.

Conclusions: The present results clearly show that the two CS cell lines are vulnerable to oxidative stress and suggest that both CSA and CSB proteins are involved in the protective response against oxidative injury.

Several novel therapies for Duchenne muscular dystrophy (DMD) have recently been developed. However, steroids are currently the only medication that has been objectively confirmed to have an effect on muscle weakness in DMD patients. Prednisolone has recently been approved for pharmaceutical use in DMD patients in Japan. Moreover, the domestic guidelines for DMD have been published, which may lead to an increase in the use of steroid therapy. The short-term effects of steroid therapy for improving motor function have already been confirmed. Subsequently, the long-term effects of steroid therapy, such as prolonging the time until loss of walking ability, delay of scoliosis, and preservation of cardio-pulmonary function, have also been recognized. However, the long-term side-effects, such as obesity and bone demineralization, remain a concern. Several clinical studies are currently ongoing, worldwide, to develop an optimal regimen of steroid therapy.