Prader-Willi Syndrome

Prader-Willi Syndrome
Prader-Willi syndrome is a rare, abnormal, congenital condition identified by the presence of mental, physical, and behavioral abnormalities, the most distinctive of which is continuous and insatiable hunger that commences after age one year and persists for the rest of the patient’s life.

Voracious and frequent eating to overcome the effects of extreme hunger pangs typically results in obesity, which then causes several obesity-linked health complications. Specialists from varied fields are required to manage and control the signs and symptoms of Prader-Willi syndrome as well as to prevent the onset of complications.

Symptoms  

The signs and symptoms of Prader-Willi syndrome are categorized into two stages, one that occurs during the first year after birth and the second that occurs between ages 1 and 4 years.

Stage 1: It is marked by:

• Unusual and easily noticeable facial features such as a mouth which droops downwards, an elongated head that tapers towards the temples, eyes shaped like almonds, and slim upper lip.


• The condition of poor muscle tone known as hypotonia. When held in one’s hands, Prader-Willi syndrome babies may feel flaccid like bean babies or rag dolls.  Floppy and extended knees and elbows may pose problems in comfortable seating and resting.


• Poor muscle tone can also cause inadequate sucking reflex, thereby causing feeding issues, inadequate gain of weight, and eventual failure to grow normally and thrive.


• Babies with Prader-Willi syndrome may show abnormal or poor response to stimulation, have difficulties in waking up after sleep, feel unusually tired and lethargic, and exhibit a weak cry.


• Lack of coordination between the eyes with regards to their movement. This can cause the eyes to meander to the sides or be cross. The ocular disorder is known as strabismus.

Stage 2: It is marked by:

• Infants with Prader-Willi syndrome suffer from poor development and growth. The feet and hands may not be as long as normal. All these factors including the presence of lowered muscle mass results in them being shorter as adults when compared with other members of their family.


• Continuous food cravings can result in rapid and considerable weight gain. The hunger pangs persist even after the intake of large meals, which cause Prader-Willi syndrome patients to eat more and at regular intervals. Eating frozen food or garbage, hoarding of food, and other abnormal food seeking behaviors may also be visible.


• Delays in motor development and achievement of developmental milestones. Sitting upright may occur in 12 months or more, while walking may occur after 2 years or more.


• The testes or ovaries may produce nil or miniscule amounts of sex hormones causing hypogonadism, immature sex organs, and stunted growth after the onset of puberty. Male Prader-Willi syndrome patients will feature voices that do not deepen completely and minimal or absent facial hair, while female patients may never menstruate or have periods only after they reach their thirties. Infertility among both sexes is common.


• There may be minor or medium levels of cognitive problems. Even those patients with no observable cognitive deficit may display some problems in learning.


• Delays in speech development. Babies may start speaking only after they become two years old. Diction impairment and other speech problems may persist.


• Several children affected by Prader-Willi syndrome may also experience abnormal curving of the spine, i.e., scoliosis.


• Sleep disorders, including sleep apnea, abnormal patterns of sleep, and disturbances in sleep cycles, etc., may be evident. Obesity can aggravate these problems.


• Varied mental problems, behavioral issues, and psychological abnormalities such as OCD marked by repetitive behaviors and actions and recurring thoughts; major aggression and temper tantrums which become more prevalent when food is not given; and rectal gouging, picking at skin, etc., ,may be observed.


• Some individuals with Prader-Willi syndrome may exhibit symptoms such increased tolerance capacity for pain, nearsightedness, and pale skin.

Causes

• Prader-Willi syndrome is a hereditary condition caused due to genetic defects or errors. Doctors are not aware of the exact gene that has the errors, but research indicates that the defective gene may be present in a particular section of chromosome 15.


• All genes, excluding the gender genes, are passed on from the parents in pairs wherein one copy comes from the mother and the other from the father. Each copy of most genes is active, while some genes may continue functioning even when just one copy is expressed or active.


• Prader-Willi syndrome is caused when the copy of a gene passed from the father does not get expressed; its expression is essential to proper functioning. This genetic anomaly may arise due to:
  
  
  
  • Paternal copy of chromosome 15 is absent.
  
  
  • Presence of defects, errors, or mutations in paternal copy of chromosome 15.
  
  
  • Inheritance of 2 maternal copies of chromosome 15, while none from the father.
  
  
  • The genetic anomaly that causes Prader-Willi syndrome also affects the functioning of the hypothalamus. This part of the brain is responsible for regulation of hunger, thirst, and other important body functions as well as controlling the production of hormones responsible for growth and development. Thus, dysfunction of hypothalamus is what eventually causes stunted growth, insatiable hunger, sexual problems, and other deficits associated with Prader-Willi syndrome.
  
  
  
  

Treatment

There is no cure for correcting the genetic mutation associated with Prader-Willi syndrome. Treatment is aimed at managing the symptoms and preventing complications.

• Feeding problems and subsequent weight gain issues can be overcome with a high-calorie diet given to affected babies. Older children then need to be given a calorie-controlled diet to avoid obesity.


• Growth hormone therapy can help improve metabolic activities, lower body fat, aid growth, and enhance muscle mass and tone.


• Mental health problems can be corrected with medications and psychological therapies. Speech issues can be corrected with speech therapy, cognitive issues can be corrected with behavioral cognitive therapy, while occupational therapy can help cope with the daily routine and work life.


• Hormone replacement therapy can help increase the levels of sex hormones.

Prader-Willi Syndrome life expectancy

Prader-Willi syndrome does not come with any standard or specific life expectancy. Patients who can efficiently control their diet and hunger pangs can completely avoid the onset of obesity and related complications such as lung failure or cardiac diseases. This will not only prolong the life of such patients but will also result in a better overall quality of life. Specialized care and supervision may be needed for some patients across their lifespan.

Prader-Willi Syndrome pictures

The hypothalamus location

Turner Syndrome

Turner Syndrome
Turner syndrome is a condition associated with girl’s chromosomes where a girl grows short in height. When there is a problem with the girl’s X chromosome, it can lead to this condition. When diagnosed in advance, a girl can be treated for short stature and able to reach a height of about 1.4 meters or 4 feet and 7 inches. Researchers do not exactly know what causes Turner syndrome but they do hold that the condition occurs due to missing or incomplete X chromosomes. The X chromosomes are involved in body growth and sex development. This is the reason why girls with this condition tend to grow shorter and may have abnormal sexual features.

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Causes of Turner Syndrome

Females have two X chromosomes, which they inherit from their parents. One X chromosome is inherited from the mother while the other X chromosome is passed from the father. When one of the X chromosomes is missing or incomplete, this may lead to Turner syndrome. A process known as nondisjunction may occur whereby the pair of sex chromosomes does not separate when eggs or sperms are forming.

An abnormal egg may bond with a normal sperm in the process of forming an embryo. In this situation, you have a person with an embryo, which misses one of the sex chromosomes referred to as X chromosome. Therefore, instead of having XX chromosomes, a girl may have only one X chromosome meaning one sex chromosome. When the embryo begins to grow, the cell division occurs but every cell has a missing X chromosomes.

Turner syndrome is not usually passed from affected parent to a child. This means that a mother may have Turner syndrome and not pass it to child. This is because in the first place, Turner syndrome leads to sterile condition in women where they cannot have children on their own without artificial fertilization.

In other cases, one of the two X chromosomes may be abnormal and result to growth problems in a girl. The reason why Turner syndrome is found in girls is because it involves the X chromosomes. By and large, female foetus with XX chromosomes can survive with one X chromosome but contrary to female foetus, male foetus, which is made up of XY chromosome, cannot survive without the X.

If a male foetus has only the Y chromosome and lacks the X chromosome, it will not survive. This again tries to explain why the condition is found in females than in males. Missing X chromosome is much worse than missing Y chromosome. To substantiate, Y chromosome contains fewer DNA molecules essential for life while X chromosome is a longer chain of DNA molecules with many genes that are responsible for cell functions in body.

Symptoms of Turner syndrome

Females with turner syndrome have problems with growth and sexual characters. Girls are shorter than normal. A woman with this condition has a stocky appearance and the arms may turn out at the elbow position. Another sign may be a receding lower jaw. A woman may also have a low hairline at the neck back and short webbed neck. In a webbed neck situation, there is development of extra skin folds, which extend from the shoulder tops to the neck sides. A girl may also have different shaped ears, which may be set in an unusual position at the lower sides of the head.

In addition, girls may also fail to start puberty when they attain the pubic age. This situation occurs because of underdevelopment of ovaries and synthesis of sex hormones like progesterone and oestrogen. When ovaries do not develop properly, it means that they cannot produce eggs and when this is coupled with problem in synthesis of sex hormones, it makes the puberty development a problem.

Besides these symptoms and signs, a girl may also show other symptoms such as swelling of hands and feet, in what is known as lymphedema. There may be heart and kidney defects, infertility and high blood pressure problems. Abnormal bone development may be witnessed in girls and particularly in the hands and arms. A girl may have more unusual moles on the skin. Because turner syndrome affects growth of body and sexual characteristics, a girl may experience self-esteem problems due to emotional challenges and self-denial.

Turner Syndrome Treatment

There is no specific cure for Turner syndrome because this condition is caused by abnormality in chromosomes. Nonetheless, there are treatments that can correct some of the problems and they are applied depending on the symptoms. People with Turner syndrome may show different symptoms. Some will have physical differences and body symptoms and others have fewer medical problems.

If the condition is diagnosed early in advance, a girl can lead near normal and healthy productive lifestyle. One form of treatment is use of growth hormone to improve the growth and development of the body. The growth hormones can influence the height of a girl, which is one of the aspects affected by the condition. The growth hormone treatment needs to be started early to aid the girl grow to average height range.

Moreover, oestrogen replacement may be done to help a girl reach and go through puberty stage. The oestrogen helps in enhancing physical changes of puberty such as menstrual periods and breast development. The oestrogen replacement treatment can be started at the age of 12 or 13.  Since Turner syndromes affects the ability of a women to become pregnant, doctors can use artificial ways of fertilisation to enable the women become pregnant.

A process known as “in vitro” fertilization is applied to help some women with the condition to bear children. A donor egg is used to create an embryo in a laboratory setting and then the embryo is introduced into the womb of the woman. With the right care, the woman can be able to carry the pregnancy and deliver a normal baby.

Other symptoms are managed such as lack of self-esteem and high blood pressure. Heart problems can be treated depending on their severity. Other conditions like thyroid problems may be addressed with use of hormones. Overweight, diabetes, hearing loss can also be treated with medications and changes in lifestyles. However, these are secondary symptoms and may not show in every other patient with the condition. Some girls may develop problems in their learning abilities and they need assistance in learning and in particular, mathematics.

Life expectancy in Turner Syndrome Patients

Women who have Turner Syndrome have a relatively lesser life expectancy compared to other healthier women.  The average age is 69-70 years with half of the patients dying from cardiovascular problems while 25 percent die from malignant issues.

Turner Syndrome Pictures including karyotype