Autism spectrum disorders (ASD) are classified as neurological developmental disorders. Several studies have been carried out to find a candidate biomarker linked to the development of these disorders, but up to date no reliable biomarker is available. Mass spectrometry techniques have been used for protein profiling of blood plasma of children with such disorders in order to identify proteins/peptides that may be used as biomarkers for detection of the disorders. Three differentially expressed peptides with mass–charge (m/z) values of 2020±1, 1864±1 and 1978±1 Da in the heparin plasma of children with ASD that were significantly changed as compared with the peptide pattern of the non-ASD control group are reported here. This novel set of biomarkers allows for a reliable blood-based diagnostic tool that may be used in diagnosis and potentially, in prognosis of ASD.
Autism spectrum disorders (ASDs) are neurodevelopmental and behavioural syndromes affecting social orientation, behaviour, and communication that can be classified as developmental disorders. ASD is also associated with immune system abnormality. Immune system abnormalities may be caused partly by complement system factor I deficiency. Complement factor I is a serine protease present in human plasma that is involved in the degradation of complement protein C3b, which is a major opsonin of the complement system. Deficiency in factor I activity is associated with an increased incidence of infections in humans. In this paper, we show that the mean level of factor I activity in the ASD group is significantly higher than in the control group of typically developed and healthy children, suggesting that high activity of complement factor I might have an impact on the development of ASD.
Objectives: Studies around the world have shown that having a child with disability impacts a mother's time use. The purpose of this study was to compare the time use of mothers of children with Autism Spectrum Disorder (ASD) with mothers of typically developing children.Methods: Eighty-four Iranian mothers (42 with ASD children and 42 with typically developing children) completed the Mothers' Time Use Questionnaire (MTUQ). Results:Mothers of ASD children spent more time doing childcare activities (P<0.001), but no significant differences were found in time spent in self-care, rest/sleep, leisure, household chores, job or social participation activities. Furthermore, quality and enjoyment of daily activities were significantly lower in mothers of children with ASD compared to mothers of typically developing children.Discussion: Mothers of ASD children are more prone to having an imbalanced life. Hence, there is a need for occupational therapists to work in partnership with mothers to support their occupational engagement and life satisfaction.
Background/Aims: There is no tool in Persian to examine quality of life for adolescents with cerebral palsy based on their specific conditions. Therefore, the purpose of this study was to assess the psychometric properties of the Persian version of the caregivers' report of the Quality of Life questionnaire for adolescents with cerebral palsy (CP QOL). Methods: In this psychometric measurement study, the CP QOL (caregivers' report) was translated into Persian, and then its content validity, and construct validity were examined. A convenience sample of subjects including 82 parents of adolescents with cerebral palsy (13–18 years) were recruited for this study. Then, the relationship between the participants' quality of life and their level of gross motor and hand function was assessed. Findings: Internal consistency for all the questions of the questionnaire were high (0.78–0.92). There was also a significant and weak correlation between all domains of quality of life and the adolescents' gross motor function and manual abilities. Conclusions: The Persian version of the caregivers' report of the CP QOL-Teen has acceptable content validity. It is a useful tool for evaluating the quality of life of adolescents with cerebral palsy.
BackgroundMental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.ObjectivesThe purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.Materials and MethodsA number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.ResultsNine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.ConclusionsSo, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.
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