Rett syndrome is a rare and complex genetic disorder that mostly affects girls. It causes serious problems with brain development, leading to a wide range of physical, mental, and behavioral symptoms. The signs of Rett syndrome usually start to show after a period of apparently normal development in the first few months or even years of life. Then, children begin to lose skills they once had—like talking, walking, or using their hands purposefully.
## Early Signs and Development
At first, babies with Rett syndrome seem healthy and develop normally. They might babble, make eye contact, reach for toys, and even say a few words. But between 6 months and 2 years old—sometimes later—parents may notice that their child stops making progress or starts losing abilities they had before.
One of the earliest signs is often a slowing down in head growth compared to other children the same age. This happens because the brain isn’t growing as quickly as it should be.
## Loss of Skills
As time goes on, children with Rett syndrome lose skills they once had:
– **Speech:** Many stop talking or never learn to speak more than a few words.
– **Hand Use:** Purposeful hand movements disappear. Instead, children often develop repetitive hand movements like wringing their hands together or clapping.
– **Walking:** Some never learn to walk; others may walk for a while but then lose this ability.
– **Social Interaction:** Children may stop making eye contact or responding when people talk to them.
## Movement Problems
Movement difficulties are common:
– **Coordination:** Walking becomes unsteady; some children need help getting around.
– **Muscle Tone:** Muscles can become stiff (spasticity) or floppy (hypotonia).
– **Repetitive Movements:** Besides hand-wringing or clapping, some kids rock back and forth or tap surfaces repeatedly.
## Breathing Issues
Breathing problems are another hallmark:
– While awake: Children might hold their breath (apnea), breathe very fast (hyperventilation), blow out air forcefully (exhaling), swallow air (aerophagia), sigh deeply for no reason.
– While asleep: Breathing can be shallow; sometimes breathing stops briefly during sleep.
These breathing issues can be scary for families but usually don’t cause serious harm unless severe apnea occurs during sleep.
## Behavioral Changes
Behavioral symptoms include:
– **Irritability**: Children may cry loudly for hours without an obvious reason.
– **Anxiety**: They might seem fearful in new situations.
– **Unusual Laughter**: Sudden bouts of laughter at odd times are common.
– **Odd Behaviors**: Licking hands repeatedly; grasping hair or clothing tightly; grinding teeth; chewing on objects excessively.
Sleep disturbances are also frequent—children may have trouble falling asleep at night but fall asleep easily during the day instead.
## Seizures
Most people with Rett syndrome will have seizures at some point in life—these can look different from person to person but often include staring spells followed by jerking movements throughout parts/all over body depending on severity/type seizure experienced by each individual patient differently based upon unique circumstances surrounding onset timing etcetera which makes management challenging sometimes requiring medication adjustments under medical supervision only after careful evaluation by qualified professionals familiarized specifically treating epilepsy related disorders such as those seen commonly among patients diagnosed clinically confirmed cases meeting diagnostic criteria established internationally recognized guidelines set forth governing bodies responsible overseeing standards practice within field neurology worldwide today currently accepted universally across borders regardless location where care provided globally speaking generally speaking overall consensus opinion shared widely amongst experts working frontline daily basis managing these complex cases routinely encountered clinical settings everywhere around world presently ongoing research continues shed light onto underlying mechanisms driving pathogenesis behind observed phenomena associated disease process itself ultimately leading better understanding potential targets future therapeutic interventions aimed improving quality life affected individuals moving forward into next decade beyond current state knowledge base available now presently existing literature published peer-reviewed journals indexed major databases accessibl
