@artikel{Ramachandram2019372,
tajuk = {Clinical characteristics and demographic profile of children with autism spectrum disorder (Asd) at child development clinic (cdc), penang hospital, malaysia},
pengarang = {S Ramachandram},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85073688991&rakan kongsi = 40&md5=3ed147d56181ccd44321c47629a4aa54},
terbitan = {03005283},
tahun = {2019},
tarikh = {2019-01-01},
jurnal = {Medical Journal of Malaysia},
isi padu = {74},
nombor = {5},
halaman = {372-376},
penerbit = {Malaysian Medical Association},
abstrak = {Objektif: To explore socio-demographics and clinical characteristics of children with Autism Spectrum Disorder (ASD) at Child Development Clinic (CDC), Penang Hospital. Study design: A record review study of 331 children with ASD attending CDC, Penang Hospital from September 2013 to April 2017. Keputusan: Daripada 331 children with ASD, 82.5% were males, 17.5% perempuan, with male to female ratio of 4.7:1. Mean age at consultation was 5 years and 6 bulan (SD 31.68 bulan) with age range from 19 months to 18 years and 4 bulan. 85.8% were term infants with normal birth weight. History of speech regression was noted in 14.8%, epilepsy and genetic disorders in 9.4% dan 5.7% masing-masing. Sleep problems was reported in 29.3%, dietary issues 22.1%, challenging behaviour 24.2% and ADHD 14.2%. Mean age of the father and mother at birth was 33.6 dan 31.6 years respectively. Kesimpulannya: Dalam kajian ini, we report a higher male to female ratio and mean age at referral with some similar rates of neurodevelopmental and medical comorbidities and relatively younger parental age with higher parental education levels. © 2019, Malaysian Medical Association. Hak cipta terpelihara.},
nota = {dipetik oleh 0},
kata kunci = {Remaja, Artikel, Asthma, Autisme, Birth Weight, Pembangunan kanak-kanak, Anak-anak, Chinese, Conception, Demografi, Diet Restriction, DSM-5, Eczema, Pendidikan, Educational Status, Epilepsi, Perempuan, Genetic Disorder, Heart Atrium Septum Defect, Heart Ventricle Septum Defect, Manusia, Orang India, Kajian Klinikal Utama, Malay, Lelaki, Medical Record Review, Pulau Pinang, Prematurity, Gangguan Pertuturan, Upper Respiratory Tract Congestion, Wakefulness},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Brett2014,
tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel},
pengarang = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db},
doi = {10.1371/jurnal.pone.0093409},
terbitan = {19326203},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {PLoS SATU},
isi padu = {9},
nombor = {4},
penerbit = {Perpustakaan Awam Sains},
abstrak = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.},
nota = {dipetik oleh 20},
kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}