Open-case series of a remote administration and group setting comprehensive behavioral intervention for tics (RG-CBIT): A pilot trial

PurposeThe comprehensive behavioral intervention for tics (CBIT) is the first-line psychotherapeutic treatment for individuals with tic disorders. However, most patients with tic disorders do not have access to CBIT due to different factors including lack of trained therapists, treatment cost, and travel distance. Such barriers are more prominent in non-English speaking countries. Therefore, the current study assessed the preliminary efficacy, feasibility, and acceptability of remotely administered group CBIT (RG-CBIT) in Japan.MethodsThis was an open-case series that adopted the AB design. Three Japanese children aged between 6 and 13 years who were diagnosed with TS were recruited. RG-CBIT was developed based on the published CBIT manual. Videoconference application, slide presentation software, and cloud learning platform were used as appropriate.ResultsThe Yale Global Tic Severity Scale scores of all participants decreased from baseline to post-treatment. That is, the score reduced by an average of 7.0. Regarding feasibility and acceptability, the attendance rate of participants was 100%, and the process measurement items had favorable scores.ConclusionsRG-CBIT had satisfactory efficacy, feasibility, and acceptability. Hence, it could mitigate the barriers for treatment access

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

AbstractHolocarboxylase synthetase (HCS) deficiency is an inherited disease of biotin metabolism characterized by a unique pattern of organic aciduria, metabolic acidosis, and skin lesions. By analysis of five patients in four unrelated families, two mutations were identified: a transition from T to C which causes an amino-acid substitution of proline for leucine at position 237 (L237P) and a single deletion of guanine (delG 1067) followed by premature termination. One patient was homozygous for the L237P mutation, three patients in two families were compound heterozygotes of the missense and deletion alleles, and the other patient was heterozygous for the L237P mutation. Inheritance was successfully demonstrated in all of the patients' families by a modified PCR followed by restriction enzyme digestion. The two mutations accounted for seven of eight mutant alleles, while neither mutation was detected in 108 normal healthy Japanese children (216 alleles). Transient expression in cultured fibroblasts from a patient showed that the L237P mutation was responsible for decreased HCS activity. These results suggest that the L237P and delG1067 mutations are frequent disease-causing mutations in Japanese patients with HCS deficiency. This PCR-based technique may therefore be useful for detecting mutations among Japanese patients

Differences in the Pattern of Hemodynamic Response to Self-Face and Stranger-Face Images in Adolescents with Anorexia Nervosa: A Near-Infrared Spectroscopic Study.

There have been no reports concerning the self-face perception in patients with anorexia nervosa (AN). The purpose of this study was to compare the neuronal correlates of viewing self-face images (i.e. images of familiar face) and stranger-face images (i.e. images of an unfamiliar face) in female adolescents with and without AN. We used near-infrared spectroscopy (NIRS) to measure hemodynamic responses while the participants viewed full-color photographs of self-face and stranger-face. Fifteen females with AN (mean age, 13.8 years) and 15 age- and intelligence quotient (IQ)-matched female controls without AN (mean age, 13.1 years) participated in the study. The responses to photographs were compared with the baseline activation (response to white uniform blank). In the AN group, the concentration of oxygenated hemoglobin (oxy-Hb) significantly increased in the right temporal area during the presentation of both the self-face and stranger-face images compared with the baseline level. In contrast, in the control group, the concentration of oxy-Hb significantly increased in the right temporal area only during the presentation of the self-face image. To our knowledge the present study is the first report to assess brain activities during self-face and stranger-face perception among female adolescents with AN. There were different patterns of brain activation in response to the sight of the self-face and stranger-face images in female adolescents with AN and controls

Experimental procedure.

<p>In each trial, the baseline phase consisted of visual stimuli presenting images of a black dot, and its duration was fixed at 20s. The test phases consisted of self-face and stranger-face visual stimuli. The duration of each test period was 15s. The presentation order of test phases 1 and 2 was alternated for each participant.</p

Placement of NIRS probes.

<p>The probes were placed on the left and right temporal areas centering at T5 and T6 of the International 10–20 system. T5/T6 is indicated by the yellow circle. The distance between the probes was set at 3 cm.</p

The time-course of the average change in oxy-Hb, deoxy-Hb, and total-Hb concentrations.

<p>The time-course of the average change in oxy-Hb, deoxy-Hb, and total-Hb concentrations in the temporal regions of the participants during the presentation of the self-face and stranger-face conditions. Zero on the horizontal axis represents the onset of the test period and the duration of the test period was fixed at 15 s. The area in gray represents the zone that was averaged for statistical analysis.</p

The mean Z-score during the 12–17 s period.

<p>The mean Z-score during the 12–17 s period after the onset of stimulation in the left and right temporal cortices. The gray bars represent the self-face condition and the white bars represent the stranger-face condition. The error bars represent one SD. The left and right panels indicate the data for the left and right temporal cortices, respectively; the top and bottom panels indicate the data from the AN and control groups, respectively. The statistical significance threshold was set to *P < 0.05.</p