{"id":5061,"date":"2019-03-20T05:39:38","date_gmt":"2019-03-20T05:39:38","guid":{"rendered":"https:\/\/simplyhealth.today\/?p=5061"},"modified":"2021-03-29T20:37:53","modified_gmt":"2021-03-29T20:37:53","slug":"14-distinctive-signs-of-rett-syndrome-symptom","status":"publish","type":"post","link":"https:\/\/simplyhealth.today\/14-distinctive-signs-of-rett-syndrome-symptom\/","title":{"rendered":"14 Distinctive Signs of Rett Syndrome Symptom"},"content":{"rendered":"\n
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As a parent, it is completely normal to find yourself over-analyzing every last thing your child does. You might find yourself watching their every movement like a hawk trying to determine whether it might possibly point to an issue that will become a problem in later life. <\/p>\n\n\n\n

Paranoia sets in the first moment you get home from the hospital in fact. Going to sleep on that first night is tarrying, as you wonder whether they are still breathing any time they fall quiet!<\/p>\n\n\n\n

One more thing to be looking out for is Rett syndrome. This rare genetic condition impacts brain development and can result in serious mental and physical disability. It is very uncommon, affecting only one in 12,000 girls and being even less likely in males.<\/p>\n\n\n\n

That said, it is still worth keeping an eye out for the symptoms. These can vary in severity, and indeed the seriousness of Rett syndrome will vary a lot from one child to another. Likewise, some children will only exhibit some of the symptoms and not others.<\/p>\n\n\n\n

But in this post, we\u2019ll look at 8 of the most distinctive signs to look out for, which can help you to identify the problem early on.<\/p>\n\n\n\n

1. Difficulty Feeding<\/strong><\/h3>\n\n\n\n

Difficulty feeding is one of the signs to look out for. While this is a common sign of Rett\u2019s though, it\u2019s important not to immediately assume the worst. In fact, there are countless different reasons that a child can experience difficulty feeding.<\/p>\n\n\n\n

For instance, difficulty feeding is often a result of something called \u2018tongue-tie\u2019. Here, the tongue is attached a little too close to the inside of the mouth, which significantly reduces the child\u2019s ability to move it around. In turn, this can cause them pain and prevent them from getting the whole nipple into their mouth to settle on the soft palette. This can cause pain for the mother and frustration for the child.<\/p>\n\n\n\n

Difficulty feeding might also be due to slow milk <\/a>supply, or a host of other problems. However, difficulty feeding is almost always something that should be explored. In this case, the issue will be linked with the loss of movement and coordination, which will later demonstrate itself in other ways.<\/p>\n\n\n\n\n\n\n\n

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2. Low Muscle Tone, Jerky Movements<\/strong><\/h3>\n\n\n\n

A child with Rett\u2019s syndrome will often experience reduced hand control and jerky, strange movements. This is actually one of the earliest signs of the condition. Over time, the muscles <\/a>can become weak and atrophied as a result, or they might become very rigid or spastic.<\/p>\n\n\n\n

Once again, it\u2019s important to view these symptoms in context. Young children take a long time to develop the same hand-eye coordination that you or I would be capable of. They very often jab wildly at things or appear to sway on the spot. In fact, they won\u2019t be able to reach for things at all for the first couple of months in most cases.<\/p>\n\n\n\n

As with all the symptoms on this list, it is important to view these jerky movements and symptoms within the broader context and to look for clusters <\/em>of symptoms.<\/p>\n\n\n\n\n\n\n\n

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3. Delayed Speech<\/strong><\/h3>\n\n\n\n

Rett\u2019s syndrome is linked to autism and is sometimes listed on the spectrum. Autistic <\/a>spectrum disorders are those that affect language and communication, along with interpersonal skills. Those with autism struggle to understand the minds of others around them, they may have unusual speech patterns, and they might be reluctant to engage in conversation.<\/p>\n\n\n\n

Rett syndrome might make itself known then in a young child if they are very late to develop their language skills, if they appear disinterested in other people and in toys, or if they show a sudden loss <\/em>of speech. <\/p>\n\n\n\n

Some of these abilities may return with time. <\/p>\n\n\n\n

This is now when you can start looking at the bigger picture to make a more educated diagnosis. If your child has poor movement, difficulty feeding, and <\/em>loss of speech \u2013 then you might begin to suspect Rett\u2019s syndrome.<\/p>\n\n\n\n\n\n\n\n

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4. Regression<\/strong><\/h3>\n\n\n\n

Rett\u2019s syndrome symptoms are often categorized into \u2018stages\u2019. The second stage is often referred to as \u2018regression\u2019 or the \u2018rapid destructive stage\u2019. In what is extremely alarming for parents to observe, the baby will at this point begin to lose <\/em>the abilities they spent the previous months and years developing. This can occur at any time between the ages of one and four years and may last 2 months to 2 years.<\/p>\n\n\n\n

During this time, the language will get progressively worse, as might memory, use of the hands, mobility, coordination, and more. Again, the regressive symptoms on display are often very similar to those seen in autism spectrum disorder.<\/p>\n\n\n\n

This is certainly one of the more distinctive symptoms of Rett\u2019s syndrome, and especially if it occurs alongside others on this list. It is very uncommon to otherwise see a child\u2019s development <\/a>reverse.<\/em><\/p>\n\n\n\n\n\n\n\n

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5. Slow Growth<\/strong><\/h3>\n\n\n\n

Brain growth will slow down in young children with Rett syndrome. This in turn means that the head is also actually likely to grow at a slower rate. Seeing as babies and toddlers have very large relative head sizes, this means that the child is likely to actually weigh significantly less.<\/p>\n\n\n\n

As a new parent, you will likely be regularly measuring your child\u2019s weight <\/a>against others in their age group in order to see where they fall on the standard curve. It can be a cause for alarm if your child is very much under the suggested weight \u2013 but rest assured that this does not necessarily indicate that they will have problems with illness or other aspects of their development.<\/p>\n\n\n\n

It\u2019s also common for young children with Rett Syndrome to experience slower growth in other parts of the body, and this becomes more apparent as the children get older.<\/p>\n\n\n\n\n\n\n\n

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6. Loss of Normal Communication<\/strong><\/h3>\n\n\n\n

One of the most notable aspects of regression as noted earlier is a child\u2019s loss of language skills. They will typically start to lose their ability to speak and may also start to reduce their communication in other ways too: they may use less eye contact, they may not play with toys in a social manner, and they may generally lose interest in other people and even other things.<\/p>\n\n\n\n

These behaviors can also be indicative of numerous other development issues, such as autism or Asperger\u2019s<\/a>. One of the key differences with Rett syndrome, however, is that communication can progress backward. That is to say that they don\u2019t simply fail to develop these communication skills but may actually lose <\/em>abilities that they previously possessed.<\/p>\n\n\n\n

Likewise, these changes might occur alongside other unusual social behaviors such as strange eye contact, or <\/p>\n\n\n\n\n\n\n\n

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7. Irregular Heartbeat\/Seizers<\/strong><\/h3>\n\n\n\n

As well as cognitive changes, those with Rett syndrome might also experience other physiological <\/a>changes. For instance, they commonly experience an irregular heartbeat. This can actually be a life-threatening problem for some children and can likewise be a serious risk for adults with the condition \u2013 leading to sudden death. If this symptom is present, it is crucial that it be monitored closely.<\/p>\n\n\n\n

Seizures can similarly be a common problem for those with Rett syndrome \u2013 and this is a symptom that affects the majority of sufferers. Usually, those who experience this particular issue will have an abnormal EEG pattern.<\/p>\n\n\n\n

Sleep disturbances are also common. These might include unusual sleep times, a tendency to fall asleep without warning during the day, and a tendency to wake at night screaming and crying (night terrors).<\/p>\n\n\n\n

Breathing problems are also a symptom, with some sufferers showing forceful exhalation, salivating, swallowing air, etc. Bowel movements, chewing, teeth grinding and more may also be present.<\/p>\n\n\n\n\n\n\n\n

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8. Curvature of the Spine<\/strong><\/h3>\n\n\n\n

Scoliosis <\/a>can also occur due to Rett syndrome. This typically happens between 8-11 years of age and can require surgery in some cases in order to restore normal movement and reduce pain.<\/p>\n\n\n\n

Along with thin and fragile bones, and smaller hands, feet, and head, this can make children with Rett syndrome more prone to injury and generally less physically able. While there is no cure for Rett syndrome, your physician may be able to help treat the symptoms and help them to live as full a life as possible, free from pain and disability. <\/p>\n\n\n\n\n\n\n\n

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9. Stage 1<\/strong><\/h3>\n\n\n\n

As you can see, there are many different symptoms of Rett syndrome, with patients going through multiple different points during their development. This can be tricky to keep track of, so here is a helpful rundown of all the stages that you can expect to see in your child:<\/p>\n\n\n\n

Stage 1 \u2013 This is early onset and begins between 6-8 months. This is when the mildest symptoms occur, such as reduced eye contact and a reduced interest in toys. At this point, general development may appear to slow down. You may notice reductions in motor skills like sitting and crawling, and you may begin to also notice a reduction in head growth and hand wringing behavior. This normally lasts a few months but may last up to a year.<\/p>\n\n\n\n

Because these early symptoms <\/a>are relatively subtle, it is common for them to be missed.<\/p>\n\n\n\n\n\n\n\n

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10. Stage 2 <\/strong><\/h3>\n\n\n\n

During stage two, we see the rapid destructive stage. This regularly occurs between the ages of one and four and can last for varying periods of time: ranging from a few weeks to several months. At this point, the child will lose their motor skills<\/a>, as well as a spoken language. They might demonstrate more extreme signs such as hand wringing, washing, clapping, and tapping. They may also keep bringing the hands to the mouth, or may hold them clasped behind their backs. \u00a0These unusual movements usually cease while the child is asleep.<\/p>\n\n\n\n

In some cases, female children will display signs of autism such as reduced social interaction and communication. They may also have very unsteady walking and might have smaller-than-average heads.<\/p>\n\n\n\n

This is the stage that normally draws attention to itself. The main thing to look for though is the change <\/em>in behavior, rather than the behavior itself.<\/p>\n\n\n\n\n\n\n\n

11. Stage 3<\/strong><\/h3>\n\n\n\n

Stage three is also referred to as the plateau or the pseudo-stationary stage. As this name would seem to imply, this phase is characterized by a relative plateauing of development. That is to say that the child does not demonstrate signs of destructive regression but nor do they show the usual trajectory of growth and development.<\/p>\n\n\n\n

They might demonstrate apraxia and motor problems, as well as experiencing seizers. It\u2019s also common to observe reduced behavioral problems: children will be less prone to irritability <\/a>and crying, and some of the autistic-like features will be reduced. They might appear to once again have more interest in their surroundings and to appear alert with a greater attention span and improved communication skills.<\/p>\n\n\n\n

In some girls, this is the stage that they remain indefinitely.<\/p>\n\n\n\n\n\n\n\n

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12. Stage 4<\/strong><\/h3>\n\n\n\n

Stage four is the late motor deterioration stage and will usually last for years or even decades. This is the point at which the child will demonstrate extreme curvature of the spine <\/a>(scoliosis), as well as muscle weakness, rigidity, spasticity, increased muscle tone, posturing, and more. Girls might lose the ability to walk. Cognition, communication, and hand skills however will typically remain relatively intact during stage four. <\/p>\n\n\n\n

Again, many children will remain at this stage indefinitely. While this will obviously have implications for quality of life, and while there are no cures, it is possible to manage the symptoms to the point that the child will be able to enjoy a full and happy life.<\/p>\n\n\n\n\n\n\n\n

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13. Variants<\/strong><\/h3>\n\n\n\n

There are several variants of the condition that can have slightly different symptoms and signs. For instance, the congenital variant (Rolando variant) is known to affect the head circumference from birth and the usual \u2018gaze\u2019 of Rett syndrome patients is absent. Zappella is the name of another variant that allows partial recovery of speech by the age of around five years. This variant is milder than other forms of Rett syndrome. <\/p>\n\n\n\n

The Hanefeld variant, or epilepsy <\/a>variant, causes epilepsy to occur in children prior to five years. This causes seizures that are the result of sudden and extreme activity in the brain. It\u2019s important for parents and carers to be watchful and vigilant in this form of Rett syndrome. <\/p>\n\n\n\n

The definition and diagnostic criteria for Rett Syndrome have actually changed over the years. This is because the \u2018atypical forms\u2019 are actually just as prevalent as the better-known variant. For this reason, the term \u2018Rett Complex\u2019 has been introduced, to serve in a similar manner to the term \u2018autistic spectrum\u2019.<\/p>\n\n\n\n\n\n\n\n

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14. Early Death<\/strong><\/h3>\n\n\n\n

Life expectancy is usually around 40 years, with causes of death ranging from pneumonia to malnutrition, to seizure<\/a>. This can be upsetting news for parents, but it\u2019s important to remember that life expectancy is based on averages. That means that if children should die when very young, it will skew the average. That is to say that some people with Rett Syndrome can live longer lives. Most of these causes of death can be managed and prevented.<\/p>\n\n\n\n

That said, in some cases deaths will occur abruptly and without an identifiable cause. It is thought that in these instances, the death may be due to cardiac arrest, spontaneous brainstem dysfunction, or even gastric perforation.<\/p>\n\n\n\n

The main objective should be to ensure that the child has the happiest life possible, as well as the support and therapy they need in order to retain as many key skills as possible. With the right management of symptoms, care and attention, they can still live full and happy lives.
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