Child bride, a story that never ends: A look at experiences of Iranian women

Child marriage is one of the issues that deprive many young girls of their basic rights and lives. The present study aimed to explore Iranian child brides’ experiences of the consequences of early marriage. The participants were women living in Tehran who had married at the age of 14–18 years. The analysis of the participants’ experiences revealed four main themes, including ‘underlying causes of early marriages’, ‘concerns and negative feelings’, ‘exposure to violence’, and ‘consequences of early marriages’. Awareness of these challenges can provide useful insights to be used by social workers and policymakers to further support these women.

First Language Acquisition, Developmental Errors in Vocabulary: A Case Study of a Four -Year- Old Iranian Child

This case study aims to discover the process of first language acquisition of a 4–year-old Iranian child. The focus of the research is on developmental errors the child has created in his language development, i.e. the words which are not correct. To do so, the researcher, during four months, observed and recorded the subject's produced strange words. The recording was done by two ways, Interval recording strategy and event sampling.Developmental errors or strange words are part of the learning process. These words are created due to different reasons. The research shows that during four months and in thirty three records, eleven strange words and expressions were produced. These eleven errors were investigated in this study in details. A table was presented by the researcher in which these errors were thoroughly described.

The Reliability of the Social Responsiveness Scale-2 in an Iranian Typically Developing Group of Children

Objective: The Social Responsiveness Scale-2 (SRS-2) is a well-known screening instrument to assess autistic spectrum symptoms quantitatively. This study assessed the different types of reliability of the Farsi translation of the scale. Method: This scale was translated into Farsi and back translated considering all aspects of methodology in translation. Then, based on stratified sampling, 533 7-11-year-old students were randomly selected from the mainstream schools located in the central parts of Tehran, the capital of Iran. For all the students, SRS-2 was completed by both the parents and teachers. To check retest reliability, the test was administered again for 15% of the total participants after a 2-4 week-period. Cronbach’s alpha coefficient, split-half” and Gottman” methods, and intra-class correlation coefficient (ICC) were used. Results: The mean total raw score was 48.47 (±23.63) and 53.17 (±27.33) in the sequence of the parents and teachers’ reports. The internal consistency (Cronbach’s alpha; 0.86 and 0.89), test-retest reliability (ICC; 0.72 and 0.83 for parents and teacher’ ratings, respectively), and interrater reliability (ICC; 0.72) showed well-accepted measurement performance. Conclusion: The findings indicated that the Farsi SRS-2 can be used as a reliable instrument to measure social responsiveness as autistic symptoms in Iranian child population.

A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

The Syntaxin Binding Protein 1 (STXBP1) plays an important role in regulating neurotransmitter release and synaptic vesicle fusion through binding to syntaxin-1A (STX1A) and changing its conformation. In this study, we identified a de novo mutation (c.C1162T: p.R388X) in exon 14 of the STXBP1 gene causing an epileptic encephalopathy, early infantile, non-epileptic movement, and unclassified infantile spasms disorders in a 5-year-old boy by whole-exome sequencing. The segregation of this genetic variant was examined in the patient as well as in his parents. We found the R388X in heterozygous state in the proband but not in his parents. This genetic change could be due to de nova mutation or germlinemosaicism. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta MedIran 2019;57(8):518-521.

A Rare De Novo Robertsonian Translocation t(21q; 21q) in an Iranian Child With Down Syndrome: A Case Report

Down syndrome or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 700 live-born infants. It is characterized by the intellectual disability of varying range, developmental delay, distinctive facial features and various physical abnormalities. The most frequent clinical features include hypotonia, short stature, short neck, upward slanting eyes, flat nasal bridge, bulging tongue, small ears and a single palmar crease of the hands. Mainly there are three cytogenetic forms of Down syndrome including free trisomy 21, mosaicism and Robertsonian translocation. We describe the case of a 1-year-old Iranian female child who presented to our genetic counseling center with intellectual and physical disabilities. The most common features of Down syndrome were present. The cytogenetic analysis confirmed the diagnosis, with detection of the Robertsonian translocation t(21q; 21q). The patient's parents were found to be both phenotypically and cytogenetically normal, so the identified Robertsonian translocation t(21q; 21q) probably have arisen de novo. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2019;57(8):522-524.