20 Interesting Facts About Rett Syndrome

Here Are the Top 20 Interesting Facts About Rett Syndrome (RTT):

#1 It is a rare genetic neurological and developmental disorder that affects the way the brain develops.

#2 RTT is classified as an autistic spectrum disorder along with pervasive developmental delay, autism, Asperger’s Syndrome, and childhood disintegrative disorder.

#3 It is characterized by normal early growth and development followed by:

intellectual disability;
seizures;
problems with walking;
slowed head and brain growth;
slower development.

#4 A hallmark of RTT is repetitive hand movements which may become almost constant while awake.

#5 The syndrome is a lifelong condition and symptoms usually don’t improve over time. This severe neurodevelopmental disorder represents the 2ond most common cause of mental retardation in females (after Down syndrome).

#6 It was first described by Andreas Rett in 1966, but it has only been recognized worldwide since 1983. Pathologic studies of the RTT brain were first described in 1986.

Statistics & Life Expectancy

#7 In the US, it is estimated to affect about 1 in 12,000 girls born every year. Presently, about 30,000 children and women are affected by the syndrome. Affected females appear to have normal psychomotor development during the first 6 to 18 months of life.

#8 Between 90 and 95 percent of females with RTT have a mutation in the MECP2 gene. On rare occasions, cases of RTT are seen in boys, especially when the child is born with more than one X chromosome – a condition referred to as Klinefelter’s syndrome. Boys with the cell mutation which causes RTT usually die before or shortly after birth. The syndrome is found in all racial and ethnic groups throughout the world.

#9 According to statistics, a girl with the syndrome has about 50 percent chance of reaching age 50, 65 percent chance of reaching age 40, 75 percent chance of reaching age 30, 90 percent chance of reaching age 20, and almost 100 percent chance of reaching age 10.

Symptoms

#10 Common symptoms include:

intellectual disability;
loss of speech;
learning problems;
behavior problems;
breathing problems;
balance problems;
compulsive movements like hand-wringing;
loss of hand movements like grasping.

11 Stages

Stage 1

usually from 6-18 months;
symptoms can be vague;
hand-wringing is a very characteristic feature;
hypotonia may be present;
tends to be a gross motor developmental delay.

Stage 2

usually from age 1 to 4 years;
cold hands and feet are common;
the child may show signs of irritability;
it may be a more subtle onset and progression in some cases;
intermittent strabismus may be noted;
sleep is often disrupted;
there can be vacant spells and actual fits;
there may be episodes of hyperventilation;
there are abnormalities of hand movements when the patient is awake;
there are autism-like behaviors with loss of verbal and other communication skills;
early growth restriction may be noted in falling off.

Stage 3

usually aged 2-10 years;
feeding may start to present difficulties;
patients may eat well, but put on little weight;
breathing abnormalities can persist;
motor dysfunction may be present;
bruxism, generalized rigidity, and movements of the tongue may occur;
there is persisting intellectual impairment;
non-verbal communication may be exploited;
there may be an improvement in behavior.

Stage 4

usually occurs after the age of 10 years;
if there are fits, they tend to be less frequent in this stage;
walking may cease;
generalized motor dysfunction, like hypertonia, dystonia, and Parkinsonism, can be present;
communication, cognitive, and hand skills usually remain stable.

Complications

#12 RTT may lead to many complications affecting various parts of the body, including:

decreased lifespan – due to a variety of health complications;
walking difficulty;
more than 80 percent of the affected children develop sleep problems;
scoliosis – a sideways curvature of the spine;
an irregularity of hand movements;
bones become weak and thin and are easily prone to fractures;
cardiac rhythm abnormalities (some of these can be fatal);
constipation – it can be severe and long-term;
delayed growth;
eating difficulties can result in nutritional deficiencies.

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Causes

#13 The genetic mutation which causes the syndrome occurs randomly, typically on the MECP2 gene. Eight mutations in the gene represent the most prevalent causes of RTT.

#14 The MECP2 gene contains instructions for producing a particular protein, that is required for brain development. The MECP2 gene is located on the X chromosome, one of the two chromosomes which establish a person’s gender.

#15 Less than 5% of cases are inherited. When a mother is a known carrier of the mutated gene, there is a fifty percent chance of passing that mutation on to her kids.

Risk Factors

#16 The risk factors of RTT include:

being a girl;
having a close family member with the disorder.

Diagnosis

#17 The syndrome is typically discovered in the first 2 years of life. A genetic blood test can be used to identify the genetic mutation responsible for RTT, but, the diagnosis is usually based on symptoms and clinical history.

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Treatment

#18 There is no known cure for RTT, however, the treatment is directed at improving symptoms. Treatment options that can help affected children and adults include:

behavioral intervention – developing healthy sleeping habits may be helpful;
nutritional support – a high-calorie, well-balanced diet may be recommended;
speech-language therapy – it can help improve a child’s life by teaching nonverbal ways of communicating;
occupational therapy – it may improve the purposeful use of the hands for activities like – feeding and dressing;
physical therapy – it can help maintain movement and improve walking skills;
medications – they may help control muscle stiffness, seizures, or problems with sleep, breathing, or the heart;
regular medical care, especially for heart problems and scoliosis.

Prognosis

#19 Sufferers have an increased risk of life-threatening arrhythmias (a disorder of the heart which affects the rate or rhythm) associated with a prolonged QT interval.

Prevention

#20 There are no prevention methods since most cases are sporadic, which means the mutation occurs randomly, and is not inherited.

Famous People With Rett Syndrome

In the present day, there are no famous people who suffer from Rett Syndrome.

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References

https://www.nichd.nih.gov/health/topics/rett/clinicaltrials/default
http://news.mit.edu/2014/rett-syndrome-drug-shows-promise-clinical-trial-0623
https://adc.bmj.com/content/80/4/384