Diagnosis and management of Autism Spectrum Disorder

Autism Spectrum Disorder is a neurodevelopment disorder that deals with the antisocial behavior of the patient, verbal or nonverbal communication in first three year of birth, with lack of emotional understanding of patient as well as other and also do not point toward thing patient wants. Person suffering from ASD also suffer with seizures and half epileptic seizures as well. The patient also has Restricted, repetitive behavior, interests, or activities. The study for ASD describes that there are three type of ASD • Rett syndrome • Asperger's Syndrome. • Pervasive Development Disorder. The etiology explains that ASD is not single disorder it comes with multiple functional disorder. Single gene mutation also responsible for development disorder as well. Development disorder due to single gene mutation the X chromosome become very fragile and leads to various number of brain and development disorders. In diagnosis which doctor depend upon the behaviors of the patient, the patient does not make any eye contact and some associated behavior also include repetitive behavior, hand flapping. The major due to ASD is epileptic attack because of loss of white matter in brain.

Fruit Fly Optimization Algorithm Based on Single-Gene Mutation for High-Dimensional Unconstrained Optimization Problems

The fruit fly optimization (FFO) algorithm is a new swarm intelligence optimization algorithm. In this study, an adaptive FFO algorithm based on single-gene mutation, named AFFOSM, is designed to aim at inefficiency under all-gene mutation mode when solving the high-dimensional optimization problems. The use of a few adaptive strategies is core to the AFFOSM algorithm, including any given population size, mutation modes chosen by a predefined probability, and variation extents changed with the optimization progress. At first, an offspring individual is reproduced from historical best fruit fly individual, namely, elite reproduction mechanism. And then either uniform mutation or Gauss mutation happens by a predefined probability in a randomly selected gene. Variation extent is dynamically changed with the optimization progress. The simulation results show that AFFOSM algorithm has a better accuracy of convergence and capability of global search than the ESSMER algorithm and several improved versions of the FFO algorithm.

Genetic spectrum of neonatal diabetes

Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe, however, early genetic diagnosis is pivotal for successful therapy. A large palette of genes is demonstrated to be a cause of ND, however, the mechanisms of permanent hyperglycemia are different. This review will give an overview of more frequent genetic mutations causing ND, including the function of the mutated genes and the specific therapy for certain sub-forms.

Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndrome

Van der Woude syndrome (VWS) is the most common single gene mutation causing cleft lip/palate, responsible for approximately 2% of all cases. Inherited in an autosomal dominant pattern, VWS occurs at an incidence of 1 in 35,000 to 100,000. The most commonly reported manifestations of VWS is lip pits, cleft lip or palate. We present a case of a 34-week infant with unique and rarely reported symptoms of VWS, such as trismus and absent uvula.