A case of infantile Tay-Sachs disease with late onset spasms.

BACKGROUND: Epilepsy is known to be associated with Tay-Sachs disease (TSD); however, no detailed reports are available. This case report aimed to present the clinical features of late onset spasms (LOS) in a patient with infantile TSD, and to elucidate the pathophysiology leading to LOS, using proton magnetic resonance spectroscopy (MRS). CASE PRESENTATION: At 11 months old, our patient had an afebrile seizure. At 14 months, he showed developmental stagnation and an increase in the frequency of epileptic seizures. Magnetic resonance imaging (T2-weighted images) showed high signal intensities in the thalamus bilaterally, and in the head of the caudate nucleus. Serum ß-hexosaminidase enzyme activity was reduced, and he was diagnosed with TSD with a homozygous pathogenic variant of the HEXA gene (c. 571-1 G > T [IVS5, -1 G > T]), confirmed using direct sequence analysis. At 20 months, epileptic spasms in series around times of drowsiness and waking were observed on long-term video-electroencephalogram monitoring, in which ictal findings were different from those of startle seizures and non-epileptic myoclonus. Therefore, the epilepsy was classified as LOS. Epileptic spasms stopped following adrenocorticotropic hormone therapy, after which his vitality and consciousness improved. Serial MRS results showed a progressive decline in N-acetyl aspartate, and an increase in myoinositol in the grey matter over time. DISCUSSION AND CONCLUSION: Our patient's MRS results suggested that cortical and subcortical axonal and neuronal degeneration with widespread gliosis in the cerebrum might lead to the development of LOS, and that LOS might be underestimated in patients with TSD.

Analysis of factors related to low health-related quality of life in children with epilepsy using a self-assessed Japanese version of the KIDSCREEN-52.

BACKGROUND: There is a paucity of studies on self-assessed generic health-related quality of life (HRQOL) in children with epilepsy. The purpose of this study was to investigate generic HRQOL and associated factors among Japanese children with epilepsy. METHODS: In this clinic-based study, 277 children (aged 8-18 years) with epilepsy and 429 children without any chronic illnesses were recruited. HRQOL was evaluated using the Japanese version of the KIDSCREEN-52 self-reported questionnaire, which consisted of 52 items categorized into 10 dimensions related to the environment surrounding children. Multiple regression analysis was applied to explore related factors with low HRQOL in each dimension. RESULTS: We obtained the questionnaire from 171 (61.7%) and 306 (71.3%) children in the epilepsy and control groups, respectively. Short treatment period (<2 years), seizure lasting >30 min, and post-ictal symptoms were associated with a low HRQOL for School Environment (OR: 3.81; 95% CI: 1.34-10.86), Moods & Emotions (OR: 3.82; 95% CI: 1.67-8.78), and Parent Relations & Home Life (OR: 3.53; 95% CI: 1.29-9.72) dimensions, respectively. Complex neurodevelopmental disorders were associated with a low HRQOL for Social Support & Peers (OR: 3.59; 95% CI: 1.33-9.66), School Environment (OR: 2.49; 95% CI: 1.07-5.77), and Psychological Well-being (OR: 3.47; 95% CI: 1.20-10.00) dimensions. CONCLUSIONS: Our results suggest that early psychosocial support and better management of epilepsy may improve HRQOL. More support in school environments may be required for children with epilepsy and neurodevelopmental disorders.

Assessment of self-/parent-reported quality of life in Japanese children with haemophilia using the Japanese version of KIDSCREEN-52.

INTRODUCTION: Assessing health-related quality of life (HRQOL) is critical for providing comprehensive clinical care to patients with haemophilia. HRQOL in individuals with similar cultural backgrounds should be compared using internationally standardized, generic questionnaires. AIM: To evaluate self-/parent-assessed HRQOL in Japanese children and adolescents with haemophilia A or B. METHODS: Children and adolescents aged 8-18 years were enrolled. The haemophilia group comprised families with haemophilia, and the control group comprised those without chronic illness. HRQOL was assessed using the self-/parent-reported questionnaire KIDSCREEN-52, the Japanese version. The Oslo 3-Item Social Support Scale was investigated. RESULTS: The questionnaire was completed by 36 families in the haemophilia group and 160 parents and children in the control group. Haemophilia children aged 8-12 years had lower scores for 'moods and emotions' than control children; the parents had lower scores in the haemophilia group than in the control group for 'moods and emotions', 'social support and peers', and 'school environment'. No significant differences in HRQOL were observed between both groups of adolescents aged 13-18 years or their parents. Neck-shoulder pain was associated with a low psychological state, including 'self-perception', but other joint pains did not affect the outcomes of the HRQOL indices. Social support weaknesses were associated with low physical and psychological states, whereas unexpected hospital visits identified low values for 'self-perception', 'autonomy', and 'school environment'. CONCLUSION: Proactive mental and clinical care in haemophilia families, especially with young children, will foster a better environment for patients and their parents and ease concerns about progress in haemophilia.

Reliability and validity of Japanese versions of KIDSCREEN-27 and KIDSCREEN-10 questionnaires.

OBJECTIVE: This study aimed to assess the reliability and validity of Japanese versions of the KIDSCREEN-27 (J-KIDSCREEN-27) and KIDSCREEN-10 (J-KIDSCREEN-10) questionnaires, which are shorter versions of the KIDSCREEN-52 (J-KIDSCREEN-52). METHODS: The present analyses are based on a pre-existing dataset of the J-KIDSCREEN-52 validation study, including 1564 children and adolescents aged 8-18 years and their 1326 parents. All were asked to complete the J-KIDSCREEN and Pediatric Quality of Life Inventory (PedsQL) questionnaires. Test-retest reliability was assessed with Intraclass Correlation Coefficients (ICCs) in a one-way random effects model, and internal consistency reliability was measured using Cronbach's alpha coefficients. Agreement between child and parent scores was evaluated using ICCs in a two-way mixed effects model. To assess concurrent validity, a sub-sample of 535 parents evaluated their child's mental health status using the Strengths and Difficulties Questionnaire (SDQ). RESULTS: For children, test-retest ICCs were ≥0.60 and Cronbach's alpha ≥0.70 for every dimension of both instruments. Correlations of corresponding dimensions between the J-KIDSCREEN-27 or -10 and the PedsQL were acceptable. For parents, test-retest ICCs were ≥0.60, Cronbach's alpha ≥0.70, and ICCs between child and parent scores ≥0.41 in every dimension of both instruments. In multivariate logistic regression models, after adjusting for confounders, lower health-related QOL in every dimension of both instruments, except Physical Well-being, was significantly associated with higher odds ratios for borderline and clinical ranges of the SDQ. CONCLUSION: The child/adolescent and parent/proxy versions of the J-KIDSCREEN-27 and J-KIDSCREEN-10 demonstrated acceptable levels of reliability and validity.