Fraccaro syndrome (49, XXXXY): A case study, review of clinical features and a systematic review in Iranian population

We described the clinical, biochemical, hormonal and developmental status of a patient with 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied with sexual masturbation behavior. This study were compiled and summarized the clinical features and also maternal age at birth time in all yet 49,XXXXY reported in the Iranian population.

Developmental Coordination Disorder, Impact of Fine Motor Skills on Handwriting and Academic Performance in School Going Children: A Research Protocol

Introduction: Developmental Coordination Disorder (DCD) is a neurodevelopmental disease that inhibits muscle coordination that affects everyday life tasks and academic achievement. Children with DCD are often characterized as "clumsy" and "uncoordinated" and often lead to performance problems that most often create (TD) children can easily execute. Generally, treatments for DCD are not expected to succeed and the disease has no treatment. Therapies, on the other hand, will include skills, solutions, and accommodations that make it simpler for children with DCD to execute the motor activities required in everyday life and school settings. Some studies emphasize that child’s developmental status plays an important role in academic performance, but there is limited evidence which focuses on fine motor performance in children suspected of DCD, and its effect on their handwriting and academic performance. Methodology: This observational cross-sectional study will be conducted at several schools around Wardha, with 1511 school-aged children of both genders ranging in age from 8 to 14 years participating. Discussion: Some studies stress the importance of a child's developmental status in academic achievement, however, there is minimal data that focus on fine motor skills in children suspected of having DCD and its impact on handwriting and academic performance. Conclusion: This study will help us in determining the prevalence of developmental coordination disorder and the relationship between handwriting and academic performance in these children.

Designing Android Based Software for Anthropometry, Hearing test, and Visual Test to Monitor Children Developmental Status

The World Health Organization (WHO) in 2018 reported that the prevalence for children under five with growth and development disorders was 28.7%, and Indonesia was included in the third country with the highest prevalence in the Southeast Asia region. As such, monitoring child growth and development is pivotal to determine necessary intervention and prevention. With technological advancement, monitoring child growth and development has become more accessible. The main objective of this paper is to explain the process of designing an Android software application for anthropometry, hearing test, and visual test to monitor children's developmental status. We employed to research and development methods, including need analysis, data collection, application design, user trial, and evaluation. The findings showed that the application could monitor growth and development in children from the age of zero to 72 months based on anthropometric testing related to auditory and visual stimulation in children. The application is useful in detecting the growth and development of children based on the results of the child's stimulation response. Based on the results of user trials by medical experts, parents, technological experts, it can be concluded that the software is applicable in monitoring the status of children's growth and development.

Practical Use of Hot-Forged-Type Ti-42Al-5Mn and Various Recent Improvements

The use of a hot-forged TiAl alloy enables the fabrication of large parts that are difficult to manufacture by casting or isothermal forging. Ti-42Al-5Mn (at%) is the world’s first TiAl alloy in this category and has been used to manufacture practical large-scale structural defense components since around 2010. This paper discusses the developmental status and practical applications of this alloy. In addition, recent developments in process stabilization and improvements in material properties, which have been issues for the practical use of this TiAl alloy in the past, are also discussed.

Validation of the Infant and Young Child Development (IYCD) Indicators in Three Countries: Brazil, Malawi and Pakistan

Background: The early childhood years provide an important window of opportunity to build strong foundations for future development. One impediment to global progress is a lack of population-based measurement tools to provide reliable estimates of developmental status. We aimed to field test and validate a newly created tool for this purpose. Methods: We assessed attainment of 121 Infant and Young Child Development (IYCD) items in 269 children aged 0–3 from Pakistan, Malawi and Brazil alongside socioeconomic status (SES), maternal educational, Family Care Indicators and anthropometry. Children born premature, malnourished or with neurodevelopmental problems were excluded. We assessed inter-rater and test-retest reliability as well as understandability of items. Each item was analyzed using logistic regression taking SES, anthropometry, gender and FCI as covariates. Consensus choice of final items depended on developmental trajectory, age of attainment, invariance, reliability and acceptability between countries. Results: The IYCD has 100 developmental items (40 gross/fine motor, 30 expressive/receptive language/cognitive, 20 socio-emotional and 10 behavior). Items were acceptable, performed well in cognitive testing, had good developmental trajectories and high reliability across countries. Development for Age (DAZ) scores showed very good known-groups validity. Conclusions: The IYCD is a simple-to-use caregiver report tool enabling population level assessment of child development for children aged 0–3 years which performs well across three countries on three continents to provide reliable estimates of young children’s developmental status.

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus

Background Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were reversed by mTOR inhibitors. However, phase II studies have not shown amelioration of ASD and cognitive deficits in individuals with TSC during mTOR inhibitor therapy. We asked here if developmental epilepsy, common in the majority of individuals with TSC but absent in most animal models, could explain the discrepancy. Methods At postnatal day P12, developmental status epilepticus (DSE) was induced in male Tsc2+/- (Eker) and wild-type rats, establishing four experimental groups including controls. In adult animals (n = 36), the behavior was assessed in the paradigms of social interaction test, elevated plus-maze, light-dark test, Y-maze, and novel object recognition. The testing was carried out before medication (T1), during a 2-week treatment with the mTOR inhibitor everolimus (T2) and after an 8-week washing-out (T3). Electroencephalographic (EEG) activity was recorded in a separate set of animals (n = 18). Results Both Tsc2+/- mutation and DSE caused social behavior deficits and epileptiform EEG abnormalities (T1). Everolimus led to a persistent improvement of the social deficit induced by Tsc2+/-, while deficits related to DSE did not respond to everolimus (T2, T3). Conclusions These findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors in clinical studies.