Fox Health: What is Angelman syndrome? Colin Farrell’s son is living with this rare disease

[riky]

What is Angelman syndrome? Colin Farrell's son is living with this rare disease

As actor Colin Farrell is launching a new foundation to raise awareness of his son's rare genetic condition, experts reveal what to know about Angelman syndrome....                        ...                        ...                            ...Actor Colin Farrell is launching a new foundation to raise awareness of a rare You are not allowed to view links. Register or Login called Angelman syndrome, so that his son and others with the disorder will have more support and resources as they transition into adulthood......."I want the world to be kind to James," Farrell, 48, told You are not allowed to view links. Register or Login ahead of his son's 21st birthday in September......."All the safeguards that are put in place, You are not allowed to view links. Register or Login — that all goes away, so you're left with a young adult who should be an integrated part of our modern society and, more often than not, is left behind." ......You are not allowed to view links. Register or Login......The syndrome was first described in 1965 by physician Dr. Harry Angelman, according to the National Organization for Rare Disorders (NORD).......It is a disorder of the You are not allowed to view links. Register or Login, which helps control movements, thoughts and behaviors, as stated by Cleveland Clinic.......Most cases are caused by a random genetic change during early development, which means those who are affected usually have no family history of the disease, the National Institutes of Health (NIH) adds.......You are not allowed to view links. Register or Login......"Angelman syndrome is a complex neurodevelopmental disorder resulting from the loss of function of a specific gene called UBE3A, which plays a crucial role in brain development," Dr. Issac Molinero, You are not allowed to view links. Register or Login at Ochsner Children's Hospital in New Orleans, Louisiana, told Fox News Digital.......The genetic changes that occur with Angelman syndrome lead to significant challenges, including severe intellectual disability, communication difficulties and characteristic behavioral patterns, such as frequent laughter and smiling, according to Molinero.......Dr. Dana Price, pediatric neurologist and director of Angelman Clinic at NYU in New York City, described the disorder as a "spectrum."......It can include "low muscle tone, developmental delay, poor gait, seizures (ranging from febrile seizures to refractory epilepsy), constipation, You are not allowed to view links. Register or Login and challenging behavior," she told Fox News Digital in an email.......The condition causes delays in development for the children it affects.......You are not allowed to view links. Register or Login may have trouble latching on or swallowing milk, and after a few months, they may not be able to lift their heads, according to Cedars Sinai.......They may also miss the milestones of sitting up alone, crawling, standing up by themselves or taking their first steps.......You are not allowed to view links. Register or Login......Infants can develop microcephaly, a condition where their heads are characteristically smaller compared to other children of the same age, per NIH......."Generally, developmental delays associated with Angelman syndrome will become noticeable around six to 12 months of age," Molinero told Fox News Digital.......Silence is another hallmark clue, experts say. ......The baby may be able to say words like "Dada" and follow simple commands, but won't be able to put together complete sentences or have a verbal conversation, according to Cedars Sinai.......At age 2 or 3 years old, some children may start to have seizures, Mayo Clinic notes.......One typical hallmark of You are not allowed to view links. Register or Login is unprovoked fits of laughter, along with frequent smiling and hand-flapping movements, according to NIH. ......Children with the disorder often have short attention spans, with most You are not allowed to view links. Register or Login or needing less sleep than normal.......You are not allowed to view links. Register or Login......The sleep issues tend to improve as the child gets older, but the limited speech, intellectual disabilities and seizures may continue throughout life.......Although most people with the condition can't speak, they learn to communicate in other ways, such as gesturing, and may be able to understand a simple conversation, according to NORD.......Doctors diagnose the condition based on blood tests that look for the genetic mutation, experts say.......The syndrome is often misdiagnosed, as initial symptoms can be confused with more well-known diseases You are not allowed to view links. Register or Login or cerebral palsy, according to the Angelman Syndrome Foundation.......Children are often not diagnosed until they are 3 or 4 years old, when they have already started pre-school, experts say.......The rare disorder only affects roughly 500,000 people worldwide, Molinero noted.......Those with the condition have a normal life expectancy, according to NIH......."Although there is no definitive cure for Angelman syndrome, proactive early intervention through therapies, educational support and community resources can significantly enhance the quality of life for affected individuals and their families," Molinero said.......Depending on symptoms, treatments may include You are not allowed to view links. Register or Login for seizures, sleep, mood, reflux and constipation, Price added.......Those with the disorder may also receive You are not allowed to view links. Register or Login to learn how to communicate non-verbally, to manage hyperactivity and to improve balance.......You are not allowed to view links. Register or Login......"This is a very exciting time to work with the Angelman Community, because drug companies are working to develop precision medicine to turn on the missing gene (UBE3A)," Price said......."Genetic treatment with precision medicine is such a revolutionary prospect — for the first time, we would be treating the disease, not the symptoms."......You are not allowed to view links. Register or LoginYou are not allowed to view links. Register or Login......Those who have a family member with Angelman Syndrome or are affected themselves can visit an Angelman Clinic or the Angelman Syndrome Foundation's website at https://www.angelman.org.......Fox News Digital reached out to the Colin Farrell Foundation for comment....

Source: You are not allowed to view links. Register or Login