Pathogenic variants in SYNGAP1 are one of the most common genetic causes of nonsyndromic intellectual disability (ID) and are considered a risk for autism spectrum disorder (ASD). SYNGAP1 encodes a synaptic GTPase activating protein that modulates the intrinsic GTPase activity of several small G-proteins and is implicated in regulating the composition of the postsynaptic density. By targeting the deletion of exons encoding the calcium/lipid binding (C2) and GTPase activating protein (GAP) domains, we generated a novel rat model to study SYNGAP related pathophysiology. We find that rats heterozygous for the C2/GAP domain deletion (Syngap+/Δ-GAP) exhibit reduced exploration and fear extinction, altered social behaviour, and spontaneous seizures, while homozygous mutants die within days after birth. This new rat model reveals that the enzymatic domains of SYNGAP are essential for normal brain function and provide an important new model system in the study of both ID/ASD and epilepsy.
Background: Birth order, defined as an individual’s rank by age among siblings. Most of the fascination has focused on the possible role of birth order in shaping personality and behavior. Components of family structure during formative years that reflect emotional and psychological status, coping and relating styles of mature individuals. The researcher attempted to determine whether an individual’s place in the family, known as “birth order”, affected that person’s emotional maturity and mental health. Methods: Study conducted on 40 participants of either sex 20 was psychiatrically ill and another 20 normal control. They were held from Pt. Deendayal Upadhyay joint hospital, district Moradabad, U. P, India. GHQ-12 negative participants from the community formed the normal group age ranging between young adulthood (20-30) years. Emotional maturity scale was administered on all the participants included in this study. Demographic data included gender, domicile, religion; education and list of the participant’s siblings i.e. birth order of the participants. Result: Analysis of the data indicated ‘oldest’ born psychiatric patients extremely unstable on the level of emotionality rather than other group. Conclusion: The place of the individual within the family, the first social structure encountered, has been suggested as a contributing factor in shaping human personalities as well as emotional development.
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