What is Rett Syndrome

What is Rett syndrome?

Rett syndrome is a disorder of brain development that occurs almost exclusively in girls. After 6 to 18 months of apparently normal development, girls with the classic form of Rett syndrome develop severe problems with language and communication, learning, coordination, and other brain functions. 
Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). 
Other signs and symptoms can include breathing abnormalities, seizures, an abnormal curvature of the spine (scoliosis), and sleep disturbances.
Researchers have described several variants of Rett syndrome with overlapping signs and symptoms. The atypical forms of this disorder range from a mild type, in which speech is preserved, to a very severe type that has no period of normal development. A form of Rett syndrome called the early-onset seizure variant has most of the characteristic features of classic Rett syndrome, but also causes seizures that begin in infancy.

 

How common is Rett syndrome?

This condition affects an estimated 1 : 10,000-22,000 females. Groups of the disease have appeared within families and certain geographic regions, including Norway, Sweden, and northern Italy.

Causes, incidence, and risk factors

Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.
Studies have linked many Rett syndrome cases to a defect in the methl-CpG-binding protein 2 (MeCP2) gene. This gene is on the X chromosome. Females have two X chromosomes, so even when one has this significant defect, the other X chromosome is normal enough for the child to survive.
Males born with this defective gene do not have a second X chromosome to make up for the problem.
 Therefore, the defect usually results in miscarriage, stillbirth, or very early death.

Symptoms

An infant with Rett syndrome usually has normal development for the first 6 - 18 months. Symptoms range from mild to severe.
Symptoms may include:

• Apraxia [verbal apraxia or dyspraxia, is a speech disorder in which a person has trouble saying what he or she wants to say correctly and consistently. It is not due to weakness or paralysis of the speech muscles (the muscles of the face, tongue, and lips). The severity of apraxia of speech can range from mild to severe.]
• Breathing problems -- problems tend to get worse with stress; breathing is usually normal during sleep and abnormal while awake
• Change in development
• Excessive saliva and drooling
• Floppy arms and legs -- frequently the first sign
• Intellectual disabilities and learning difficulties (assessing cognitive skills in those with Rett syndrome, however, is difficult because of the speech and hand motion abnormalities)
• Scoliosis
  
  
• Shaky, unsteady, or stiff gait; or toe walking
• Seizures
• Slowing head growth beginning at approximately 5 - 6 months of age
• Loss of normal sleep patterns
• Loss of purposeful hand movements; for example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth
• Loss of social engagement
• Ongoing, severe constipation and gastroesophageal reflux (GERD)
• Poor circulation that can lead to cold and bluish arms and legs
• Severe language development problems

NOTE:
Problems in breathing pattern may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts in Rett syndrome recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.

 

Signs and tests

Genetic testing may be done to look for the gene defect associated with the syndrome. However, since the defect is not identified in everyone with the disease, the diagnosis of Rett syndrome is based on symptoms.
There are several different types of Rett syndrome:

• Atypical
• Classical (meets the diagnostic criteria)
• Provisional (some symptoms appear between ages 1 and 3)

Rett syndrome is classified as atypical if:

• It begins early (soon after birth) or late (beyond 18 months of age, sometimes as late as 3 or 4 years old)
• Speech and hand skill problems are mild
• It is appears in a boy (very rare)

 

Treatment

Treatment may include:

• Assistance with feeding and diapering
• Methods to treat constipation and GERD
• Physical therapy to help prevent the hands from contracting
• Weight bearing exercises for those with scoliosis

Supplemental feedings can help those with slowed growth. A feeding tube may be needed if the patient breathes in (aspirates) food. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. Weight gain may improve alertness and social interactions.
Medications such as carbamazepine may be used to treat seizures. Other medications or supplements that have been used or studied include:

• Bromocriptine
• Dextromethorphan
• Folate and betaine
• L-carnitine, which may help improve language skills, muscle mass, alertness, energy and quality of life while decreasing constipation and daytime sleepiness
• L-dopa for motor rigidity in later stages of the disease

Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.

 

Support Groups

International Rett Syndrome Association - www.rettsyndrome.org

Expectations (prognosis)_

The disease slowly progresses until the patient is a teenager. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in late adolescence.
Developmental regression or delays vary. Usually, a child with Rett syndrome sits up properly but may not crawl. For those who do crawl, many do so by scooting on their tummy without using their hands.
Similarly, some children walk independently within the normal age range, while others are delayed, don't learn to walk independently at all, or don't learn to walk until late childhood or early adolescence. For those children who do learn to walk at the normal time, some keep that ability for their lifetime, while other children lose the skill.
Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy of a girl with Rett syndrome may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.

Calling your health care provider

Call your health care provider if you have any concerns about your child's development, if you notice a lack of normal development with motor or language skills in a child, or if there are associated disorders that need treatment.

Prevention

The likelihood of having another child with Rett syndrome is less than 1%.

Reference:
http://ghr.nlm.nih.gov/condition/rett-syndrome
http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
http://www.nidcd.nih.gov/health/voice/apraxia.html
http://www.rettsyndrome.org/

Improving Posture and Ergonomics

 Human positions refers to the different positions that the human body can take.

There are several synonyms that refer to the human position, often used interchangeably, but having specific flavors.

• Position is a general term for a configuration of the human body
• Posture means the intentionally or habitually assumed position
• Pose implies artistic or aesthetic intention of the position
• Attitude refers to postures assumed for purpose of imitation, intentional or not, as well as in some standard collocations in reference to some distinguished types of posture: "Freud never assumed a fencer's attitude, yet almost all took him for a swordsman."
• Bearing refers to the manner, of the posture, as well as of gestures and other aspects of the conduct.

      Over time, poor posture may be caused by habits from everyday activities such as :
-sitting in office chairs,
-looking at the computer,
-driving,
-standing for long periods of time,
-or even sleeping.

Poor posture can easily become second nature, causing or aggravating episodes of back pain and damaging spinal structures. Fortunately, the main factors affecting posture and ergonomics are completely within one’s ability to control and are not difficult to change.
The following guidelines suggest several ways to improve posture and ergonomics, especially for people who work sitting in an office chair for most of the day.

Why is good posture important?

• When it comes to posture, your mother did know best. Her frequent reminders to stand up straight and stop slouching were good advice.

• Your spine is strong and stable when you practice healthy posture. But when you stoop or slouch, your muscles and ligaments struggle to keep you balanced — which can lead to fatigue, back pain and other problems. 

Your spine's curves

 
A healthy back has 3 natural curves:

• An inward or forward curve at the neck (Cervical curve)
• An outward or backward curve at the upper back (Thoracic curve)
• An inward curve at the lower back (Lumbar curve)

Good posture helps maintain these natural curves, while poor posture does the opposite — which can stress or pull muscles and cause pain.

 Good standing posture
When standing, keep these tips in mind:

• Hold your chest high.
• Keep your shoulders back and relaxed.
• Pull in your abdomen and buttocks.
• Keep your feet parallel.
• Balance your weight evenly on both feet.

Try not to tilt your head forward, backward or sideways, and make sure your knees are relaxed — not locked.

Take the wall test!

To test your standing posture, take the wall test. Stand with your head, shoulder blades and buttocks touching a wall, and your heels about two to four inches (five to 10 centimeters) away from the wall. Reach back and slide your hand behind the curve in your lower back, with your palm flat against the wall.
Ideally, you'll feel about one hand's thickness of space between your back and the wall. If there's too much space, tighten your abdominal muscles to flatten the curve in your back. If there's too little space, arch your back so that your hand fits comfortably behind you. Walk away from the wall while maintaining this posture. Keep it up throughout your daily activities.


 What is good posture?
           Posture is the position in which you hold your body upright against gravity while standing, sitting or laying down. Good posture involves training the body to stand, walk, sit and lie in positions where the least strain is placed on supporting muscles and ligaments.

Good posture helps maintain these natural curves, while poor posture does the opposite — which can stress or pull muscles and cause pain.

Proper posture:
1. Keeps bones and joints in the correct alignment so that muscles are being used properly.
2. Helps decrease the abnormal wearing of joint surfaces.
3. Decreases the stress on the ligaments holding the joints of the spine together.
4. Prevents the spine from becoming fixed in abnormal positions.
5. Prevents fatigue because muscles are being used more efficiently, allowing the body to use less energy.
6. Prevents backache and muscular pain.
7. Contributes to a good appearance.

Proper posture requirements:
1. Good muscle flexibility
2. Normal motion in the joints
3. Strong postural muscles
4. A balance of muscles on both sides of the spine
5. Awareness of your own posture, plus awareness of proper posture which leads to conscious correction.
With much practice, the correct posture for standing, sitting, and lying down (as described below) will gradually replace your old posture.

What is the correct way to stand?
1. Hold your head up straight with your chin in. Do not tilt your head forward, backward or sideways.
2. Make sure your earlobes are in line with the middle of your shoulders.
3. Stretch the top of your head toward the ceiling.
4. Keep your shoulders back, your knees straight and your back straight.
5. Tuck your stomach in. Do not tilt your pelvis forward.
6. The arches in your feet should be supported.

 

Simple Stretches to Loosen Your Back Muscles

• Lower back cat stretch: This stretch is done on all fours, fingers facing forward. Start by dropping your head and raising your back as you push the shoulder blades upward. Repeat in the opposite direction by pushing your chest downward, arching your lower back.
• Knees to chest: While lying on your back, pull both knees to the chest with your hands behind your knees. Keep your tailbone on the floor and hold this stretch for at least 15 seconds.
• Shoulder blade squeeze: Have arms straight out in front of you at shoulder height. Now swing both arms horizontally towards your back, like you are trying to reconnect your fingers behind your back. Swing your arms back to the front. Do this motion slowly several times.
• Shoulder blade lift: Have arms straight out in front of you at shoulder height. Now swing both arms vertically in opposite directions. Keep arms straight. Do this motion slowly several times.
• The Core Twist: Hold arms out, bent at shoulder height. Feet planted on the ground, toes facing forward. Keeping your hips facing forward, twist your upper body towards the back (try to look behind you). Twist from side to side. Twist baby! Twist!

Exercises to Strengthen Your Back Muscles

Any type of exercise will benefit you by improving muscle endurance and increasing strength. Exercises that strengthen your core are the most helpful for improving and building the muscles that lead to good posture. Your core is your torso – shoulders to hips – the source of all your strength to your limbs. Here are three exercises that help improve posture:

• Back extensions: Lying face down on the floor with hands behind head. Slowly lift your upper body a few inches off the ground and hold for 5 seconds. Slowly lower to the ground. Repeat 10 – 12 times.
• Superman: Lying face down on the floor, lift your right arm and left leg off the floor several inches. Hold for two seconds and then lower. Repeat with left arm and right leg. Do 10-12 repetitions.
• Shoulder Squeeze: Lift shoulders toward ears and squeeze together, holding the position for five seconds. Relax and repeat 3-5 times

www.spine-health.com/wellness/ergonomics/guidelines-improve-posture
http://www.spine-health.com/wellness/ergonomics/ten-tips-improving-posture-and-ergonomics

Urination Problems

Pain and difficulty with urination are common conditions in both men and women. But urination problems may be a sign of more serious problems. Follow this chart for more information about these symptoms and their care.

SYMPTOMS		DIAGNOSIS		SELF-CARE
1. Do you have pain or burning with urination?		Go to Question 7.**
2. Is your urine cloudy?		Go to Question 5.*
3. Do you have a fever and/or backache?		Pain and fever may be caused by an infection of the kidneys called PYELONEPHRITIS.		See your doctor right away.
4. Do you have sharp, knife-like, intense pains in your back or groin?		You may have a KIDNEY STONE or another serious problem.		EMERGENCY See your doctor or go to the emergency room right away.
		You may have a BLADDER INFECTION or a more serious problem with the KIDNEYS.		See your doctor right away. Left untreated, problems with your kidneys may cause blood poisoning.
*5. Are you a man, and do you have an ache under your scrotum?		You may have PROSTATITIS, an infection of the prostate gland.		See your doctor.
6. Are you a man, and do you have a discharge from the tip of your penis?		These may be symptoms of an INFECTION such as URETHRITIS or a SEXUALLY TRANSMITTED INFECTION, such as GONORRHEA.		See your doctor right away.
**7. Do you have the urge to urinate after just using the restroom, and are you only urinating small amounts at a time?		Your symptoms may be caused by an infection in the bladder, called CYSTITIS, or from an irritation of the bladder, called INTERSTITIAL CYSTITIS, or from a KIDNEY STONE stuck in the bladder, or a chemical in the urine.		See your doctor.
8. Are you producing more urine than usual?		Go to Question 10.***
9. Have you been losing weight, drinking lots of fluids and/or have a history of diabetes in the family?		You may have DIABETES, a condition in which your body lacks insulin or doesn't use it in the right way.		See your doctor.
		You may be taking a medicine that can cause increased urination. Drinking liquids containing caffeine can also cause increased urination.		You may want to check with your doctor. If you drink caffeinated beverages, try decreasing the amount you drink.
***10. Are you a woman, and do you leak urine when you cough or sneeze?		Your symptoms may be from a weakness in the bladder due to childbirth or aging. This weakness causes STRESS INCONTINENCE.		Absorbent protection may be helpful. Kegel exercises may help strengthen muscles that support the bladder. See your doctor.
11. Are you a man, and do you leak or dribble urine after you urinate, or do you have problems starting the urine stream, or do you wake many times at night to urinate?		You may have a problem with your PROSTATE GLAND. Your symptoms may be caused by a benign (non-cancerous) ENLARGEMENT or a more serious condition such as INFECTION or CANCER.		See your doctor.
12. Do you have blood in your urine?		You may have a KIDNEY STONE, a TUMOR in the kidney or bladder, a BLADDER INFECTION, TRAUMA to your kidney, or possibly a BLEEDING DISORDER.		See your doctor right away.
For more information, please talk to your doctor. If you think the problem is serious, call your doctor right away.

[Infographic] The Truth About Sitting Down

Does your job involve a lot of sitting? If yes, then you might want to do something about it. And fast. Turns out sitting for long periods of time in your daily routine has a surprising number of disadvantages. Check out this infographic to learn more.

The Importance of a Pap Test

   The Papanicolaou test (also called Pap smear, Pap test, cervical smear, or smear test) is a screening test used in gynecology to detect premalignant and malignant (cancerous) processes in the ectocervix. Significant changes can be treated, thus preventing cervical cancer. The cervix is the lower part of the uterus (womb) that opens at the top of the vagina.

How the Test is Performed

The Pap smear is done as part of a gynecological exam. You will lie on a table and place your feet in stirrups to position your pelvis for examination. The health care provider will insert an instrument (speculum) into your vagina and open it slightly to see inside the vaginal canal.
The health care provider will take a sample of cells from the outside and just inside the opening of the cervix (cervical canal) by gently scraping the outside of the cervix with a wooden or plastic spatula, then inserting a small brush that looks like a pipe cleaner into the canal.
The cells are placed on a glass slide, or put in a bottle containing a preservative, and then sent to the lab for examination.
Watch Videos:
http://abcnews.go.com/Health/video/pap-smear-12772099
http://www.cbsnews.com/video/watch/?id=5721042n

How to Prepare for the Test

Tell your health care provider if you:

• Are taking any medications or birth control pills
• Have had an abnormal Pap smear
• Might be pregnant

Within 24 hours of the test, avoid:

• Douching
• Having intercourse
• Taking a tub bath
• Using tampons

Avoid scheduling your Pap smear while you have your period (are menstruating), because blood and cells from the uterus may affect the accuracy of the Pap smear. Empty your bladder just before the test.

How the Test Will Feel

You may have some discomfort, similar to menstrual cramps, and a feeling of pressure during the procedure. You may bleed a little bit after the test.

Why the Test is Performed

The Pap smear can detect cancerous or precancerous conditions of the cervix. Most invasive cancers of the cervix can be detected early if women have Pap tests and pelvic examinations.
Screening should start within 3 years after first having vaginal intercourse or by age 21. After the first test:

• Woman should have a Pap smear every 2 years to check for cervical cancer.
• If you are over age 30 or your Pap smears have been negative for 3 times in a row, your doctor may tell you that you only need a Pap smear every 3 years.
• If you or your sexual partner have other new partners, then you should have a Pap smear every 2 years.
• After age 65-70, most women can stop having Pap smears as long as they have had three negative tests within the past 10 years.
• If you have a new sexual partner after age 65, you should begin having Pap smear screening again.

Women who have had a total hysterectomy (uterus and cervix removed) and have not had any previous history of cervical dysplasia (abnormal cells), cervical cancer, or any other kind of pelvic cancer, may not need to have Pap smears.

Normal Results

A normal value is negative, meaning there are no abnormal cells present.
Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.

What Abnormal Results Mean

The current system divides the abnormal results into these main areas:

• ASCUS or AGUS (atypical cells of uncertain significance): These changes may be due to infection with HPV but may also mean there are precancerous changes present.
• LSIL (low-grade dysplasia) or HSIL (high-grade dysplasia): This means precancer changes are likely to be present; the risk of cancer is greater if the result is HSIL.
• Carcinoma in situ (CIS): This usually means the abnormal changes are likely to progress to cancer.
• Atypical squamous cells (ASC–H): This means abnormal changes have been found and may be HSIL.
• Atypical glandular cells (AGC): Cell changes are seen that suggest precancer of the upper part of the cervical canal or inside the uterus.

When a Pap smear shows abnormalities, further testing or follow-up is needed. The next step depends on the results of the Pap smear, your previous history of Pap smears, and risk factors you may have for cervical cancer.
This may include:

• Colposcopy-directed biopsy
• An HPV test to check for the presence of the HPV virus types most likely to cause cancer

For minor cell changes, doctors usually recommend having a repeat Pap smear in 3-6 months.

Risks

There are no risks involved.

Considerations

The Pap smear test is not 100% accurate. Cervical cancer may be missed in a small number of cases. Fortunately, cervical cancer develops very slowly in most women and follow-up Pap smears should identify worrisome changes in time for treatment.
The following drugs may affect Pap smears:

• Colchicine
• Compounds in cigarettes
• Estrogen
• Podophyllin
• Progestins
• Silver nitrate

Sources:
http://www.medicinenet.com/pap_smear/article.htm 
http://abcnews.go.com/Health/video/pap-smear-12772099
http://www.cbsnews.com/video/watch/?id=5721042n
Are Pap smears still necessary if I'm 62 years old and have had a hysterectomy?http://www.mayoclinic.com/health/pap-smear/AN00013

#Infographic : Radiation Exposure and The Body