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re: Friend's kid was diagnosed with atypical Rett's syndrome. Damn.
Posted on 2/5/18 at 5:39 pm to prplhze2000
Posted on 2/5/18 at 5:39 pm to prplhze2000
This thread would be more interesting if we didn't have to Google what that was.
Posted on 2/5/18 at 5:43 pm to Chuckd
Ok, ok, ok. From raredisease.info:
LINK
quote:
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptoms that are either milder or more severe than those seen in Rett syndrome. Several subtypes of atypical Rett syndrome have been defined:[1]
The early-onset seizure type is characterized by seizures in the first months of life with later development of Rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). It is frequently caused by mutations in the X-linked CDKL5 gene (Xp22). ...
LINK
Posted on 2/5/18 at 5:44 pm to Chuckd
quote:
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls.
quote:
Despite being caused by a gene mutation, Rett syndrome is rarely inherited. Infants seem healthy during their first six months, but over time, rapidly lose coordination, speech, and use of the hands. Symptoms may then stabilize for years. There's no cure, but medications, physical and speech therapy, and nutritional support help manage symptoms, prevent complications, and improve quality of life.
quote:
Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions. Finding trusted information is the first step towards simplifying this journey. The information found here is reliable, current and vetted by global experts in the field of Rett syndrome.
This post was edited on 2/5/18 at 5:46 pm
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