All Posts tagged Early Childhood Development

Rett Syndrome: Rare Disorder

Rett Syndrom: Rare Disorder
It is possible that you may not even have heard of Rett Syndrome, as it is a very rare disorder that almost exclusively affects females. According to
Cleveland Clinic, 1 in every 10,000- 15,000 baby girls is born with Rett Syndrome–very rarely are males affected. In short, Rett syndrome is a genetic neurological disorder that affects the development of the brain and causes a progressive loss of motor skills and language over 4 stages: early onset; rapid deterioration; plateau and late motor deterioration. Most babies born with Rett Syndrome appear to develop normally until 6 months of age, when symptoms start to appear–most pronounced changes take place between 12 and 18 months of age. 

What are the Symptoms? 

As any new parent, you are likely very closely observing your child’s growth, and keeping a close eye on the development of their mental, linguistic, and motor skills. Know that before a diagnosis for Rett Syndrome is given, other conditions that may resemble its symptoms must be ruled out first. 

  • One of the first symptoms is being born with an abnormally small head–as the infant grows, there will be delayed growth in other parts of the body as well. 
  • Loss of movement and coordination abilities is another symptom. At the age when your baby should normally learn how to crawl, walk, or use their hands you may notice a rapid loss of these abilities. 
  • Loss of linguistic and communication abilities is often seen in children with Rett Syndrome as well. Children impacted by Rett may rapidly lose the ability to speak, or communicate in other ways; this can be accompanied by a loss of interest in their surroundings as well. 

Some other symptoms closely resemble more common neurological disorders–like Autism Spectrum Disorder–since children may develop unusual eye and hand movements that are repetitive and seemingly purposeless, may become increasingly and easily irritable and agitated, display intellectual disabilities, or suffer from sleep disturbances. 

How is it diagnosed?

As mentioned, since Rett Syndrome can resemble other neurological or genetic disorders, most professionals will approach it by process of elimination. Parents and caregivers play a big role in the diagnosis process as they can keep a detailed record of the child’s development and activities/responses. 

If healthcare providers deem it necessary, or parents request it, then a simple blood test is performed to look for the gene mutation MECP2 that has been known to confirm the diagnosis of Rett Syndrome. Unfortunately, this mutation is quite random (and rare) so pre-genetic testing will not show any results. In fact, the chance of passing down Rett Syndrome from a healthy parent to their child is less than 1%. If someone in your family has been diagnosed with Rett Syndrome, you would want to bring this up with your healthcare provider, but Rett is generally not an inherited condition.  

https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233 

https://my.clevelandclinic.org/health/articles/6089-rett-syndrome#diagnosis-and-tests 



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Language Development

One of the biggest milestones in a toddler’s life is when they first start to use words and display other communication skills, beyond crying. Early language development may look different for each toddler–we do have to remember they are individual people, after all–but here are some key milestones that are expected for each age group: 

1 year old: by this time, your toddler should be able to say a handful of words. Of course, this is in addition to babbling, and the key skill of trying to imitate your voice! They are trying to imitate the sounds they hear, and at this age you should be hearing consonants and vowels coming clearly out of your baby’s mouth. You may also notice that they are using hand and body gestures to communicate certain needs or activities, like pointing to their toys for play time or touching their mouth for snacks. This is a normal process of cognitive development, and you can help enhance it by talking to them as much as possible and helping them follow simple directions by associating words with movements, like saying “up” and helping lift them. 

2 years old: this is the point where your toddler should have a steady vocabulary they are repeating, and they begin to expand it. You can help them by reading more and more stories to them, or using more advanced language than before. Additionally, they are able to comprehend sentence structure (slowly) and you may see them using two-word sentences and linking words. Building on their conquered skills of body gestures, they are now able to identify objects and body parts and clearly name them. 2 y/os may also exhibit understanding of slightly more abstract concepts, such as using pronouns. 

3 years old: your toddler should have advanced to forming simple sentences and speaking clearly by this age. This goes hand in hand with their ability to string multiple words together. You can help expand this skill by repeating their word combinations back to them every time they use them, and model new word combinations to encourage them to try them. Toddlers at this age are also able to use the correct words to identify both objects and needs. Since their cognitive abilities are growing, you will also notice they can follow two part requests like “Please pick up your shoes and put them on the shelf.” 

4 years old: this is considered an age when your toddler is turning into a child, so you will see more advanced language patterns emerge– like them creating more complex sentences and annunciating them clearly. Your child should also be able to identify shapes, colors, and letters, especially if those appear on objects they see often. Their ability to understand more abstract concepts will be more advanced, and they start recognizing the concept of time, like moments throughout the day. It is not unlikely that your child can now follow complex requests, and voice their own wants and needs in more complex sentences, or multi-part sentences.  

 

https://www.parents.com/toddlers-preschoolers/development/language/language-development-milestones-ages-1-to-4/ 

https://www.teachearlyyears.com/learning-and-development/view/7-ways-to-support-language-development 



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