By: Sahrish Bashir
The exact focus of this study is on the brain morphology and its relation with behavioral characteristics in children having 22qDS or velo-cardio syndrome, a genetically neurodevelopmental defect that causes difficulties in learning skills and behavior, cognitive disease and brain psychological disorder. Its effect on behavioral phenotype includes poor social connectivity skills, bland affect worn minimum facial expression and having difficulties like high levels of social withdrawal, disinhibition and impulsivity.
Studies have shown that Children experiencing this psychological problems also suffering from conditions like hyper reactivity disorder (ADHS) as they are attentionally deficit from surroundings. Approximately 14% of affected children had an autistic spectrum disorder (ASD) means observance of developmentally delayed processes in their life span and they are also mentally retarded.
Along with these suffering conditions the most affective disorders i.e. bipolar personality means they may behave as a dual character (both gender characteristics), highly depressed most of the time that can leads toward diabetes and baseless anxiety.
Up to 25% population is experiencing schizophrenia that is associated with neuroanatomical and developmental differences in general which has created the opportunity to study the association b/w mental health problems and behavioral disorders in 22qDS children. This understanding has providing a clue about this disorder caused by abnormalities or alternations in prefrontal cortex, basal ganglia (particularly the caudate nucleus), corpus callosum, thymus & the cerebellum.
Quantitative brain MRI studies result on children with 22qDS has decrease in total brain volume (by 8.5–11) & grey matter of brain but voxel-based morphometry (VBM) study reported that reductions in grey matter volume in medial posterior portions of the cingulate gyrus, the parietal lobe and the anterior cerebellum, but increased grey matter in the right frontal and insular regions, associated with social behavioral problemsdue to prevalence of these disorders with age.
As this deletion syndrome has described many problems and their factors but dealing them is partially unknown due to limitations in quantitative analysis of schizophrenia scale, ADHS & autism but reflects a complex interaction b/w a direct effect of genetic variation on development of brain & indirect effects through other neurochemical factors and also to behavioral processes.
Deleted region in 22qDS may be a catechol-O-methyltransferase (COMT) responsible for regulation of dopamine, along with neurodevelopmental genes so this was not exactly known which gene deficiency causes this syndrome either direct neurobehavioral effect or dopamine regulator gene.
Now it has been reported that dopamine rich flux involves in brain maturation that is genetically combined but its opposite case leads to an increased risk for neuropsychiatric disorder i.e. schizophrenia.
However, the brain–behavior relationship is bi-directional and developmentally dynamic so studies have been still going on for its treatment and analysis.