Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development

Objective: The aim of this study is to investigate emotional and behavioral problems among Indonesian patients with disorders of sex development (DSD) who recently came under clinical management. As diagnostic proce-dures and treatment had been delayed, patients progressively developed ambiguous bodies, difficult to conceal from outsiders. Method: We compared 118 Indonesian patients with DSD aged 6–41 years (60 children, 24 adolescents, 34 adults) and 118 healthy control subjects matched for age, gender, and residential settings. We used the Child Be-havioral Checklist (CBCL), Youth Self-Report (YSR), and Adult Self-Report (ASR) to examine differences between patient and control groups as well as differences within patients groups. Results: On the CBCL, parents of young children with DSD reported significantly more emotional and behavioral problems than parents of matched control. Parents of daughters with CAH reported that their daughters withdrew themselves from social interactions. On the ASR, adults with DSD reported significantly more internalizing problems than controls, particularly anxiety and depression. No other differences in emotional functioning were found across different diagnostic groups. Conclusions: Indonesian patients with DSD who were untreated for most of their lives suffered more emotional and behavioral problems than matched controls. Differences and similarities between our findings and observations in patients from Western countries will be discussed

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers

Background. Thalassaemia has become a major public health issue in Indonesia. It has been estimated that up to 10% of the population carries a gene associated with beta-thalassaemia. Currently, there is no formal recommendation for thalassaemia screening. This study aimed to explore awareness of thalassaemia, and to explore attitudes regarding carrier testing among Javanese mothers. Methods. A quantitative questionnaire, designed using constructs of the Theory of Planned Behaviour, was applied cross-sectionally. Results. Out of 191 mothers who were invited, 180 agreed to participate (RR 94%), of whom 74 had a child affected with thalassaemia. Both attitudes towards receiving information about thalassaemia, and attitudes towards carrier testing were very positive. Awareness of thalassaemia was poor. Mothers, both those with and without an affected child, had barely heard of thalassaemia, nor of carrier testing. However, all mothers, including those with an affected child expressed high levels of interest in carrier testing. Respondents did not perceive that they had any control over carrier testing, and feared stigmatization and being discriminated against if their carrier status was identified. Attitudes towards carrier testing explained 23% of future reproductive intentions, in addition to perceived stigmatization, education level and ‘mother’s age’ (R2 0.44; p 0.001). Conclusion. Responding mothers expressed high levels of interest in receiving information on both thalassaemia and carrier testing. The less educated and the more deprived they were, the keener they were to receive this information. Overall, awareness of thalassaemia was low. Even mothers with affected children seemed unaware of the inheritance pattern and the recurrent risk of having an affected child in a subsequent pregnancy, showing the need for genetic counselling in Indonesia. It is therefore recommended not only to raise awareness about thalassaemia, but to improve the education of healthcare professionals as well. Keywords: thalassaemia; carrier screening; Javanese mothers; genetic awareness; Theory of Planned Behaviour (TpB); awareness; Indonesi

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients (HASIL TURNITIN)

Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders.  Aim of study: This study provided the clinical and cytogenetic profiles of Indonesian primary amenorrhea patients and introduced clinical criteria of those patients with their  karyotype results using score system.   Methods: A retrospective descriptive study of 79 PA patients, whom referred to Cytogenetic and Molecular unit Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University. We made a scoring system consisted of 4 scores, all patients had been distributed to match the scores according to their clinical criterias and then confirmed with the karyotype results.   Results: The karyotype results of 79 patients of PA revealed 55 (69.6%) patients with female karyotype 46,XX; 6 (7.6%) patients with male karyotype 46,XY; 8(10.1%) patients with monosomy X; 3 (3.8%) patients with 45,X/46,XX; 3 (3.8%) patients with  Isochromosome 45 X/46, X,i(Xq). Mosaicism with  Y  constitution 45,X/46,XY  was seen in 2 (2.5%) patients;  marker chromosome 45,X/46,X+mar (2%) in 1 patient (1.3%); and  chromosome 1 and  X translocation 46,XX,t(1;X)(p34;q25) detected in  1(1.3%) patient. Scoring system results showed that all patients with normal karyotype (46,XX/46,XY) were matched with score 1 and 2 while 17 patients with chromosomal abnormalities were matched with score 3 and 4, only 1 patient with mosaic Turner syndrome 45,X(10%)/46,XX(90%) matched score 1.  Conclusion: Turner syndrome was the most common cause of primary amenorrhea which attests the importance of cytogenetic analysis for diagnosis of primary amenorrhea patients. The scoring system needs further validated for measuring reliability and validity

Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development

Objective: The aim of this study is to investigate emotional and behavioral problems among Indonesian patients with disorders of sex development (DSD) who recently came under clinical management. As diagnostic proce-dures and treatment had been delayed, patients progressively developed ambiguous bodies, difficult to conceal from outsiders. Method: We compared 118 Indonesian patients with DSD aged 6–41 years (60 children, 24 adolescents, 34 adults) and 118 healthy control subjects matched for age, gender, and residential settings. We used the Child Be-havioral Checklist (CBCL), Youth Self-Report (YSR), and Adult Self-Report (ASR) to examine differences between patient and control groups as well as differences within patients groups. Results: On the CBCL, parents of young children with DSD reported significantly more emotional and behavioral problems than parents of matched control. Parents of daughters with CAH reported that their daughters withdrew themselves from social interactions. On the ASR, adults with DSD reported significantly more internalizing problems than controls, particularly anxiety and depression. No other differences in emotional functioning were found across different diagnostic groups. Conclusions: Indonesian patients with DSD who were untreated for most of their lives suffered more emotional and behavioral problems than matched controls. Differences and similarities between our findings and observations in patients from Western countries will be discussed

Premutation Allele Combined with Caregiver Distress Factor Increase the Risk of Depression in Fragile X Carriers: Indonesia Setting

This study was done to determine the risk of anxiety and depression symptoms among fragile X premutation carriers. Hamilton anxiety rating scale (HARS) and Hamilton depression rating scale (HDRS) was administered by trained physicians to measure the severity of anxiety and depression symptoms, respectively. Caregiver distress factors which directly contribute to caregiver burden in particular degree of relationship with the child, number of FXS child, child institutional/educational status, number of hours spent providing care per day, and the degree of illness severity were documented. Thirty-one fragile X carriers (27 females, 4 males), aged 32-77 years participated in this study. Only 3.2% had anxiety symptoms, while depression symptoms were identified in 35.5% carriers. Number of hours of providing care/day were significantly associated with depression symptoms (p<0.001). The prevalence ratio (PR) of depression among individuals who had a distress score above cut-off was 3.2 (95% CI= 1.2 to 8.5) compared to those who had a distress score below cut-off with p=0.02. Fragile X premutation carriers are at a greater risk to develop depression symptoms related to the hours spent in caring for children with fragile X syndrome (FXS)

Genetic diversity at the FMR1 locus in the Indonesian population

We report an analysis of allelic diversity at short tandem repeat polymorphisms within the fragile XA locus in 1069 male volunteers from twelve Indonesian sub-populations. An odd numbered allele of DXS548 was found at high frequency in all Indonesian populations. Greater allelic diversity was identified at the loci under study than has been previously reported for an Asian population. These differences distinguish the Indonesian population from all previously reported Asian, European and African populations. A high frequency of small premutation alleles, 4/120 (3.3%, 95% CI 0.9–8.3%), was identified in the Moluccan population of Hiri Island