Background: Research regarding characteristics of epileptic children in special needs school in Indonesia had never been conducted. Aim: This research aims to provide education to the parents about the characteristics and to provide new reference for further researches. Methods: This descriptive cross-sectional research was conducted in September – November 2018 using a questionnaire inquiring about demographic, socio-economic condition, clinical picture, prenatal, perinatal and postnatal factors. The subjects of this research are class C students in public special needs school Cileunyi Bandung. Sample size was calculated using a categorical descriptive formula and was determined to be 13 subjects. Result and Conclusion: The most prevalent characteristics are male (8), age ≥16 year old (5), elementary school (7), tonic-clonic seizure type (7), present history of repeated seizure (11), one type of seizure (6), onset of seizure in newborn age (7), duration of seizure <15 minutes (9), term delivery (9), birth weight ≥ 2500 grams (9), spontaneous vaginal delivery (10), and present history of febrile seizure (7). Latar Belakang: Penelitian mengenai karakteristik anak dengan epilepsi di Sekolah Luar Biasa (SLB) di Indonesia belum pernah dilakukan. Tujuan: Penelitian ini bertujuan memberikan wawasan kepada orang tua mengenai karakteristik anak dengan epilepsi di SLB serta dapat menjadi referensi data untuk perkembangan ilmu pengetahuan dan penelitian selanjutnya. Metode: Penelitian ini merupakan studi deskriptif dengan desain potong lintang yang dilakukan pada bulan September - November 2018 menggunakan kuesioner yang berisi pertanyaan mengenai karakteristik demografis, sosial ekonomi, gambaran klinis, faktor prenatal, perinatal, dan postnatal. Subjek penelitian adalah siswa/siswi kelas C SLB Negeri Cileunyi Bandung. Penentuan jumlah sampel minimum menggunakan formula deskriptif kategorik dan didapatkan 13 subjek penelitian. Hasil dan Simpulan: Karakteristik yang paling banyak ditemukan adalah jenis kelamin laki-laki (8), usia ≥ 16 tahun (5), tingkat pendidikan Sekolah Dasar (7), jenis kejang tonik-klonik umum (7), terdapat riwayat kejang berulang (11), satu tipe kejang (6), onset kejang terjadi pada usia bayi (7), durasi kejang < 15 menit (9), usia persalinan cukup bulan ((9), berat badan lahir ≥ 2500 gram (9), persalinan secara spontan melalui vagina (10), dan memiliki riwayat kejang demam (7).
Early detection of Sensory Processing Disorder (SPD) is important for deciding on appropriate interventions for children at risk. However, there is no valid screening tool available at this moment. The purpose of this study was to validate the deGangi, Sensorimotor History Questionnaire for Preschooler (SHQP), and neurological soft sign of Cambridge Neurological Inventory (NSS CNI) against intelligent quotient (IQ) to establish a reliable cutoff for SPD screening tools for children aged 4-6 years. Sixty-four parent-child were recruited randomly from 3 kindergartens in Bandung, Indonesia. Eligible parents were asked to fill out the SHQP, while their child was assessed using theWechsler Preschool and Primary Scale of Intelligent (WPPSI) and NSS CNI. The deGangi SHQP score and NSS CNI showed a weak and moderate correlation with Full-scale IQ (FIQ). The total score of deGangi SHQP's sensitivity was 50% with a specificity of 53.4% and a negative predictive value (NPV) of 91.2% agaisnt the FIQ score. The total sensitivity for the NSS CNI was 66.7%, while the total specificity was 58.6% and the NPV was 94.4%. Meanwhile, the sensitivity for the sensory integration subscale score of the NSS CNI was 83.3%, with a specificity of 60.3% and an NPV of 97.2%. The deGangi SHQP can be considered to be an SPD screening tool with the cut-off scores for each subscale of self-regulation, sensory processing of touch, sensory processing of movement, emotional maturity, and motor maturity of 3, 3, 3, and 2, respectively, while the NSS CNI can be used for identifying SPD in children aged 4-6 years with a cut-off scores for the motor coordination, sensory integration, and disinhibition subscales of 7, 10, and 3, respectively.
IntroductionSpinocerebellar ataxia type-3 (SCA3) is an adult-onset autosomal dominant neurodegenerative disease. It is caused by expanding of CAG repeat in ATXN3 gene that later on would affect brain structures. This brain changes could be evaluated using brain MRI volumetric. However, findings across published brain volumetric studies have been inconsistent. Here, we report MRI brain volumetric analysis in a family of SCA 3 patients, which included pre-symptomatic and symptomatic patients.MethodologyThe study included affected and unaffected members from a large six-generation family of SCA 3, genetically confirmed using PolyQ/CAG repeat expansion analysis, Sanger sequencing, and PCR. Clinical evaluation was performed using Scale for the Assessment and Rating of Ataxia (SARA). Subjects' brains were scanned using 3.0-T MRI with a 3D T1 BRAVO sequence. Evaluations were performed by 2 independent neuroradiologists. An automated volumetric analysis was performed using FreeSurfer and CERES (for the cerebellum).ResultWe evaluated 7 subjects from this SCA3 family, including 3 subjects with SCA3 and 4 unaffected subjects. The volumetric evaluation revealed smaller brain volumes (p < 0.05) in the corpus callosum, cerebellar volume of lobules I-II, lobule IV, lobule VIIB and lobule IX; and in cerebellar gray matter volume of lobule IV, and VIIIA; in the pathologic/expanded CAG repeat group (SCA3).ConclusionBrain MRI volumetry of SCA3 subjects showed smaller brain volumes in multiple brain regions including the corpus callosum and gray matter volumes of several cerebellar lobules.
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