What´s Fragile X Syndrome?

Fragile X syndrome is a genetic condition resulting in different types of growth problems like learning disabilities, difficulty with memory, and thinking skills. Affected individuals usually have a late development of speech and language by age two. Children with fragile X may have anxiety and abnormal behavior such as fidgeting or impulsive actions. They may have ADD, which makes it harder to pay attention and focus on specific tasks. About a third of people with fragile X have traits of autism spectrum disorders that affect communication and interaction with others. Most people with fragile X have physical features that become more visible with age which includes a long narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, and flat …show more content…
Mutations in the FMR1 gene result in fragile X syndrome. The FMRP protein helps regulate the production of other proteins and plays a role in the growth of synapses. Synapses are specialized connections between nerve cells and are critical for transferring nerve impulses. Usually, this CGG segment is repeated from five to forty times. People with fragile X syndrome have the CGG segment repeated over two hundred times. The abnormally expanded CGG segment turns off the FMR1 gene, which prevents the gene from producing FMRP. A loss or shortage of this protein disrupts nervous system functions and results in fragile X syndrome. A mother named Kiran shares the story of her son, Shiv, having fragile X syndrome. With Kiran’s father being the carrier, Shiv was diagnosed with fragile X when he was fifteen months. Kiran quit her job to become a full time mom and be with Shiv. A health visitor recommended a program called portage which is a home visiting educational service for preschool kids with special needs. When Shiv was three, Kiran sought out to enroll Shiv in a special needs school to help him get an education. Shiv has faced many hardships throughout his