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ObjectiveDuchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailored to specific mutations, thus molecular diagnostics are particularly important. This study aimed to detect the DMD gene deletion in Indonesian DMD/BMD patients and analyze the potential amenability by exon skipping therapy.ResultsThirty-four male patients were enrolled in this study, 23 of them (67.6%) underwent muscle biopsy and showed the absence or partially expressed dystrophin protein in immunohistochemistry staining. All patients had very high serum CK levels (10.529 ± 9.97 IU/L). Multiplex PCR revealed the DMD gene deletions in 15 (44.1%) cases. Seventy-eight percent of deletions were clustered in the hot-spot region of exon 43 to 52. Furthermore, seven (20.5%) patients were potentially amenable to exon skipping treatment. Therefore, multiplex PCR is one feasible method to detect DMD gene deletion in Indonesian DMD/BMD patients that can further determine the potential amenability of exon skipping therapy. In addition, this study is the first report of DMD gene deletion analysis in Indonesia.

Background : Periventricular cysts arenot rare findings in neonates. However, they are sometimes associated withserious clinical complications, such as congenital viral infectionsand anomalies. Methods : We performed a retrospectivefollow‐up study on newborns who had periventricular cysts on routinecranial ultrasound examination. Results : We followed 13 infants (threepreterm) with periventricular cysts. Ten had single or multiple germinolysiscysts and the remaining three had choroid plexus cysts. All infantshad various kinds of underlying complications, including congenitalviral infection (two with cytomegalovirus and one with rubella),Sotos syndrome (n = 4), intrauterinegrowth retardation (n = 5), large‐for‐dates(n = 4), congenital heart disease (n = 1),myelomeningocele (n = 1) and other minoranomalies. All cases of germinolysis except for one developed aneurodevelopmental abnormality and/or delay. In contrast,all three cases with choroid plexus cysts appeared to develop well,despite the underlying complications. Conclusions : Germinolysis cysts seem tobe associated with systemic diseases and should be treated as a high‐risksign for impaired neurological development.

Background: The Children’s Sleep Habit Questionnaire (CSHQ) has been utilized for assessing sleep behavior problems in children aged 4-10 years in many countries. However, a proper tool to detect of sleep behavior problems in Indonesian children has not been proven. Aims: The aim of our study was to test the item analysis and internal consistency of the Children’s Sleep Habit Questionnaire (CSHQ) in Indonesian version.Methods: We used a cross-sectional design and 305 mothers of pre- and primary school children in Yogyakarta Indonesia participated in this study. The Indonesian version of the Children’s Sleep Habit Questionnaire was used for assessing the sleep behavior problems in children. Internal consistency was evaluated by using the Cronbach α method. The internal consistency was tested with Cronbach alpha coefficients. Pearson’s Product Moment was completed to estimate the correlation between all items of CSHQ with Subscales and total scores of CSHQ.Results: Internal consistency of all items of the Children’s Sleep Habit Questionnaire was 0.80. Internal consistency of subscales ranged from 0.42 (parasomnias) to 0.66 (night wakening). 31 of 33 items had significant positive correlation with total score of Children’s Sleep Habit Questionnaire. Inter-subscales with the highest correlation were sleep onset delay with parasomnias, parasomnias with sleeps disordered breathing, and sleep disorder breathing with night waking.Conclusions: The Indonesian version of the Children’s Sleep Habit Questionnaire is suitable for screening sleep behavior problems in Indonesian children aged 4-10 years.

The first cases of SMEI and SMEB are reported in South-East Asian populations. Two novel SCN1A mutations are also identified in these patients, p.V1612I and p.C1756G, which may lead to neuronal excitability or convulsions.