Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

BACKGROUND: Mental retardation (MR) has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15-25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. MATERIALS AND METHODS: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. RESULTS: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re-evaluation) are removed. CONCLUSION: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.

Early Childhood Development and Iranian Parents' Knowledge: A Qualitative Study.

BACKGROUND: Early childhood is the most important step throughout the lifespan and it is a critical period continuing to the end of 8-year-old. Mothers' knowledge is one of the important aspects of child development. The goals of this study were to determine the situation of knowledge in Iranian parents about the concept and the importance of early childhood development (ECD) and determining the sources of parental knowledge about ECD from the perspective of parents and grandparents. METHODS: This qualitative study was conducted based on the directional content analysis in 2016. The purposive sampling method is utilized to select 24 participants among parents and grandparents in Tehran. The inclusion criteria consisted of speaking in Persian and having a child or grandchild <3-year-old. Data were collected through four focus group discussions and four individual interviews. RESULTS: Iranian parental knowledge about integrative ECD is not enough, their knowledge about motor development and speech and language are relatively better, about cognitive development is little and socialemotional is very little. They said parents and other caregivers influence the process of children's development. Parents' knowledge resources about ECD included human resources, physical resources, virtual space, and the media. According to the majority of participants, "pediatricians are the most reliable source of parents' knowledge about ECD" even though the main focus of pediatricians is on treating diseases, physical health, and growth of children. CONCLUSIONS: According to the results, the knowledge of Iranian parent is not enough about ECD; therefore, actions must be taken to increase their knowledge in these domains. Parents look for reliable and valid sources to enhance their knowledge and they rely the most on pediatricians in this regard. Therefore, more studies on assessing parents' knowledge in community and the practical methods for knowledge promotion in this field is recommended.

Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ With Febrile Seizure.

Inflammatory elements and genetics have major roles in febrile seizures (FS) pathogenesis. Seventy patients were enrolled and compared with 139 controls. The allele and genotype frequency of the IL-2 gene at -330 and +166 positions and the IFN-γ at +874 position were determined. A significant positive association with GG genotype at position -330 in the patient group was found (P=0.003). Further, a positive association was detected in simple and complex FS groups at the same position (P=0.03, P=0.004). IL-2 GT haplotype was significantly more common in the patients compared to controls (P=0.0008). Higher frequency of GT haplotype was detected in simple FS patients in comparison to controls (P=0.0003). Contrary, IL-2 TG haplotype frequency was lower in complex FS group (P=0.005). Overrepresentation of certain alleles, genotypes and haplotypes in IL-2 gene in FS patients could predispose individuals to this disease.

A survey of the tardive dyskinesia induced by antipsychotic drugs in patients with schizophrenia.

OBJECTIVE: Tardive Dyskinesia (TD), is one of the important problems of the patients with schizophrenia. The emergence of these side effects depends on so many factors such as the patients' age and the duration of antipsychotic treatment. By discovering new drugs (Atypical), there has been an outstanding decrease in the emergence of these side effects. The present study investigates the symptoms of TD in the Patients with schizophrenia who were under treatments for more than 6 months. METHOD: The sample of this study was 200 Patients with schizophrenia of four wards in Razi hospital (two acute and two chronic wards) who were hospitalized in the winter of 2006 and were qualified for this study. The subjects were 101 males and 99 females who were younger than 60 and had received antipsychotic drugs for at least 6 months. After psychiatric interview and filling the demographic questionnaire by the patients, the required information about the drugs and the intensity of the symptoms was acquired. Then clinical and physical examinations of tardive dyskinesia were done. Next, the tardive dyskinesia disorders' check list (AIMS) was used. Findings of this cross-sectional, descriptive study were analyzed by SPSS. RESULTS: There was a high ratio of 95% between TD and the age factor (P=0.05). There was no relationship between symptoms frequency and duration of treatment (P=0.68). Facial muscles and oral zones were mostly involved in T.D disorder (72%). CONCLUSION: No significant difference was observed between nine fold symptoms of T.D in patients who were using traditional drugs and those who were using the new ones (typical and atypical). Findings showed that in the intensity of the symptoms, gender does not play a major role.