Clinical and cytogenetic profiles of children with autism in Kuantan Pahang
Introduction: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorder. The aetiology is not known in 75 to 80 percent of patients while in 20 to 25 percent a genetic cause is identified. There are very few studies on cytogenetic profile of ASD being carried out locally. This cross-sectional study was conducted to examine the clinical and cytogenetic profiles of paediatric ASD patients attending the Kuantan branch, National Autistic Society of Malaysia School. Methods: All paediatric patients (up to 18 years of age) attending the school in the year 2009/2010 were recruited. Clinical data was obtained by interviewing the guardians and assessment of the patients. Peripheral blood samples were collected for cytogenetic analysis. Results: Guardians of 14 out of 24 patients (58.3%) agreed for their children to be enrolled into the study. The age range was 5 to 12 years of age. The diagnostic subgroups were autistic disorder (13/14 patients) and Asperger syndrome (1/14). Approximately 80% had learning disability and history of allergy. Five patients had hyperactivity and none had history of seizures. There were family histories of developmental delay, mental retardation, epilepsy, psychiatric disorders and allergy. No structural or numerical chromosomal abnormality was detected. Conclusions: Although no cytogenetic abnormalities were identified, most probably due to the small sample size, it is crucial that genetic studies, including molecular genetic be explored as they would provide useful clinical insights and enhance understanding of the pathogenesis.
How to Cite
All material submitted for publication is assumed to be submitted exclusively to the IIUM Medical Journal Malaysia (IMJM) unless the contrary is stated. Manuscript decisions are based on a double-blinded peer review process. The Editor retains the right to determine the style and if necessary, edit and shorten any material accepted for publication.
IMJM retain copyright to all the articles published in the journal. All final ‘proof’ submissions must be accompanied by a completed Copyright Assignment Form, duly signed by all authors. The author(s) or copyright owner(s) irrevocably grant(s) to any third party, in advance and in perpetuity, the right to use, reproduce or disseminate the research article in its entirety or in part, in any format or medium, provided that no substantive errors are introduced in the process, proper attribution of authorship and correct citation details are given, and that the bibliographic details are not changed. If the article is reproduced or disseminated in part, this must be clearly and unequivocally indicated.