Purpose Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with uncertain etiology. Evidence shows that genetic testing can explain about 20% of cases. This study aims to assess the level of awareness and perception of medical genetic services among Malaysian parents with ASD children. Design/methodology/approach A cross-sectional survey using an interviewer-administered questionnaire was done among 111 parents of children with ASD from August 2017 to September 2019 in two clinics in Malaysia. Findings A majority of children with ASD (80.20%) were male and diagnosed at the age of 3–4 years old (47.80%). When the autistic child was born, most mothers and fathers were aged 26–30 (40.50%) and 31–35 years old (42.30%), respectively. Another child with ASD in nuclear and extended families was reported for 11.70% and 13.50%, respectively. Only 24.30% have seen a professional genetic consultant, and 19.8% have done genetic testing for affected children. The mean score of awareness of genetic services for ASD was 2.48 ± 3.30. Having medical insurance and another child with ASD in the nuclear family was significantly associated with a higher level of awareness (p = 0.01 and p < 0.001, respectively). Most of the participants have a positive perception of these services. Originality/value Regardless of demographic factors, participants have poor awareness of genetic services for ASD, likely because the primary physician did not recommend it upon diagnosis. Increasing health-care providers’ knowledge about the current potential of genetic testing for ASD and educational campaigns for the public are critical components of using available genetic tests to improve ASD management.
Introduction: The health index of a patient of tuberculosis can be calculated using variables obtained from the indicators that were developed based on the sufferer and family's behaviors while preventing the disease based on the nursing theory of self-care. It is expected that a family must be able to treat infected members at home properly using technical treatment. Therefore, this study aims to construct a health index formula for tuberculosis patients.Methods: A cross-sectional design was used and further divided into two phases. The first is focus group discussions, which were carried out between tuberculosis treatment holders, Puskesmas nurses, and researchers to develop measurement instrument indicators. A survey was performed in the second phase for patients who were registered and treated in Public Health Center at Blitar, East Java, Indonesia. The 141 responses obtained were selected using a simple random sampling technique. The data were collected using a questionnaire developed from the focus group discussions and then analyzed using factor analysis.Results: A Goodness of Fit Index (GFI) value of 0.98 was recorded along with composite value reliability of 53%. The formula of Health index obtained from the analysis was (0.238* Home environment) + (0.226* Family prevention efforts) – (0.659* Coughing habits of patients) + (0.250* Impact of treatment). The index was then calculated in four categories, namely low, enough, good, very good.Conclusion: So, the health index formula of tuberculosis patients is illustrated as Health Index=0.238*X1+0.226*X2-0.659*X3+0.250*X4.
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