Define flat affect11/16/2023 Normally, this DNA segment is repeated from 5 to about 40 times. ![]() ![]() Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Synapses are critical for relaying nerve impulses. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. The FMR1 gene provides instructions for making a protein called FMRP. Mutations in the FMR1 gene cause fragile X syndrome. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. ![]() Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Usually, males are more severely affected by this disorder than females.Īffected individuals usually have delayed development of speech and language by age 2. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
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