WARNING

WARNING : FOR 18 YRS AND ABOVE ONLY

THIS SITE IS MEANT FOR EDUCATIONAL PURPOSES ONLY. THIS IS MEANT TO BE FRANK DISCUSSION OF HUMAN REPRODUCTIVE HEALTH WITH SPECIAL PAPERS ON ADOLESCENT REPRODUCTIVE HEALTH AND WALEFARE.
THE PAGES CONTAINS PHOTOS, DIAGRAMS AND SKETCHES OF HUMAN SEXUAL ORGANS, AND ANATOMY AND PHYSIOLOGY INCLUDING CHEMISTRY OF IT. SO SOME ARTICLES ARE NOT SUITABLE FOR BOYS / GIRLS UNDER 12 YRS OF AGE, AND SOME MAY FIND IT OFFENSIVE.
SO I SUGGEST THE PARENTS TO GO THROUGH THE ARTICLE AND DECIDE ON ITS DEGREE AND GUIDE THEIR WARDS ACORDINGLY. AND IF YOU ARE NOT 18
PARENTAL SUPERVISION IS ADVISED.
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CHROMOSOMAL ABNORMALITIES

CHROMOSOMAL ABNORMALITIES:

Chromosomal abnormalities are a group of conditions that are the result of a problem with one of the 23 pairs of chromosomes. Chromosomes are the structures within the body’s cells that contain genes. Normally, people have 23 pairs of chromosomes but an abnormality can affect any chromosome, including the sex chromosomes.

Usually, people have two sex chromosomes. Females have two X chromosomes (XX) and males have one X and one Y chromosome (XY).

A chromosomal abnormality can affect the number of chromosomes, the structure of certain chromosomes, or the composition of chromosomes. If the material found in chromosomes is balanced so that the expected amount is found in each cell, no abnormalities occur. If that balance is upset, chromosomal abnormalities occur and can cause a wide range of abnormalities, usually birth defects or death of the embryo or fetus before birth.

DOWN SYNDROME:

Down syndrome (trisomy 21) is the most common and best known chromosomal abnormality. It is a trisomy condition, where there is an extra, third chromosome rather than just the standard two.

With Down syndrome, physical and mental development is delayed. Infants with Down syndrome tend to be quiet, passive, and have somewhat limp muscles. Most children with Down syndrome have a lower than average IQ. Children with Down syndrome tend to have a small head, a broad, flat face with slanting eyes and a short nose. The tongue is large and their ears are small and set low in the head. The hands are short and broad, with a single crease across the palm.

Children with Down syndrome often have heart defects, and many people with Down syndrome develop thyroid disease. They are also prone to hearing and vision problems.

Down syndrome can be diagnosed before birth. Your physician may be able to recognize some of the distinctive physical characteristics of an infant with Down syndrome during an ultrasound. The diagnosis is confirmed by testing the infant's chromosomes for trisomy 21 or other disorders of the 21st chromosome. After the diagnosis is made, doctors use further tests to detect abnormalities associated with Down syndrome.

Most children with Down syndrome survive to adulthood. Life expectancy for a child with Down syndrome is about 45-55 years old. IQ levels and educational/vocational achievement vary greatly. Many, but not all, have progressively worsening mental functioning. Heart abnormalities are often treatable with drugs or surgery. Heart disease and leukemia account for most deaths among children with Down syndrome.

FRAGILE X-SYNDROME:

Fragile X syndrome is the next most commonly diagnosed genetic cause of mental retardation after Down syndrome. The symptoms of fragile X syndrome are caused by abnormalities in DNA on the X chromosome. Usually, the condition is passed down to affected children by their mothers. Many children with the syndrome have normal intelligence. The severity of symptoms, including mental retardation, is worse in boys than in girls with the disorder. Fragile X results in delayed development, large, protuberant ears, a prominent chin and forehead, and, in boys, large testes, which is most apparent after puberty. The joints may be abnormally flexible, and heart disease (mitral valve prolapse) may occur. Features of autism may develop. Women may experience menopause in their mid 30s.

The presence of abnormal DNA on the fragile X chromosome can be detected by tests before or after birth. The greater the number of abnormal repetitions of DNA found, the more likely the child will have symptoms.

KLIENFELTER SYNDROME:

Klinefelter syndrome is a disorder in which male infants are born with an extra X chromosome (XXY). While most boys with Klinefelter syndrome have normal or slightly decreased intelligence, many have speech and reading disabilities and difficulties with planning. Most also have problems with language skills. Early problems with language may lead to problems with social interactions that affect behavior. Although physical characteristics can vary greatly, most boys with the condition are tall with long arms but otherwise normal in appearance.

Puberty usually occurs at the normal time, but the testes remain small. At puberty, growth of facial hair is minimal, and the breasts may enlarge somewhat. Men and boys with the syndrome are usually infertile. Men with Klinefelter syndrome develop diabetes mellitus, chronic lung disease, varicose veins, hypothyroidism, and breast cancer more often than other men.

The syndrome usually isn’t suspected until puberty when most of the symptoms develop. Chromosomal analysis confirms the diagnosis.



LONG QT SYNDROME:

Long QT syndrome is the result of an abnormality of the heart's electrical system, which may cause loss of consciousness or sudden death. It affects as many as one in 7,000 people. In the United States, it may cause sudden death in 3,000 to 4,000 children and young adults each year. In children, this disorder is usually due to a genetic abnormality. A person with the disorder may have family members who died suddenly and inexplicably. In most adults, long QT syndrome is caused by use of a drug or a disorder.

People who have long QT syndrome are predisposed to developing an unusually fast heart rate, which often occurs during physical activity or emotional excitement. When the heart rate is too fast, the brain may not receive enough blood. The result is loss of consciousness. Some people with long QT syndrome are also born deaf. But about one third of people have no symptoms. Long QT syndrome can cause sudden death at a young age.

NOONAN SYNDROME:

Noonan syndrome can be inherited or can develop unpredictably in children whose parents have normal genes. Although children with the syndrome have normal chromosomal structure, they have many characteristics typical of Turner syndrome. In the past, Noonan syndrome was called "male Turner syndrome." Boys or girls can be affected. The gene responsible for Noonan syndrome is located on chromosome 12.

Symptoms may include webbing of the neck, low-set ears, droopy eyelids, short stature, shortened ring fingers, a high-arched palate, heart and blood vessel abnormalities, and impaired intelligence. Most affected people are short. Boys may have underdeveloped or undescended testes. In girls, the ovaries may be underactive or stop working. Puberty may be delayed, and infertility is possible.

TRIPLE X:

Triple X (trisomy X) syndrome is a rare disorder in which female infants are born with three X chromosomes. Girls with triple X syndrome tend to have slightly lower intelligence and particular problems with verbal skills. Sometimes the syndrome causes infertility, although some women with triple X syndrome have given birth to physically normal children with normal chromosomes.

Extremely rare cases of infants with four or even five X chromosomes have been identified. The more X chromosomes the girl has, the greater the chance of mental retardation and physical abnormalities.

TURNER SYNDROME:

In Turner syndrome, girls are born with one of the two X chromosomes partially or completely missing.

Many newborns with Turner syndrome have swelling on the backs of their hands and tops of their feet. Swelling or loose folds of skin are often evident on the back of the neck. Many other abnormalities often develop, including a webbed neck, a low hairline at the back of the neck, a broad chest with wide-spaced nipples, and poorly developed nails.

As a girl with Turner syndrome gets older, she has no menstrual periods and the breasts, vagina, and labia remain childlike rather than undergoing the changes of puberty. The ovaries usually do not contain developing eggs. A girl or woman with Turner syndrome is almost always short and obesity is common.

Other disorders, such as heart defects, kidney and eye defects, and diabetes mellitus, often develop. Occasionally, abnormal blood vessels in the intestine cause bleeding.

Many girls with Turner syndrome have difficulty in assessing visual and spatial relationships and have problems with planning and attention. They tend to score poorly on certain performance tests and in mathematics, even if they achieve average or above-average scores on verbal intelligence tests. Mental retardation is uncommon.

XYY SYNDROME:

XYY syndrome is a disorder in which a male infant is born with an extra Y chromosome.

Boys with XYY syndrome tend to be tall and have difficulties with language. Their IQ tends to be slightly lower than that of their family members. Many experience learning disabilities, attention deficit disorder, and minor behavioral disorders. The XYY syndrome was once thought to cause aggressive or violent criminal behavior, but this theory has been disproved.

These are just a few of the conditions that result from chromosomal abnormalities. Talk to your health care provider if you are concerned about unusual symptoms in your child.



RISK FACTORS FOR CHROMOSOMAL ABNORMALITIES:

A risk factor is something that increases your likelihood of getting a disease or condition.

It is possible to develop a chromosomal abnormality with or without the risk factors listed below. However, the more risk factors you have, the greater your likelihood of having a baby that develops a chromosomal abnormality. Talk to your healthcare provider about how you can reduce your risk.
Age

The leading cause of chromosomal abnormality is the mother’s age. The likelihood increases as the mother’s age increase. However, more babies are born to younger women so more younger women have babies with a chromosomal abnormality. The actual number of chromosomal abnormalities passed on is difficult to determine because most result in miscarriages early in the pregnancy
.Maternal Age Risk of chromosomal abnormality Risk of Down’s Syndrome

15-24 1/500 1/1500

25-29 1/385 1/1100

35 1/178 1/350

40 1/63 1/100

45 1/18 1/25


These statistics only account for live births.

MEDICAL CONDITIONS

If you have already had a child affected by a chromosomal abnormality, you are at increased risk for passing along another chromosomal abnormality.

If you and your partner have experienced at least two spontaneous abortions, you should talk to your health care provider about conducting an investigation of your chromosomes. This investigation comes back normal 95% of the time. If the results are not normal, you and your partner should meet with a human geneticist since this is an ever changing field.


SYMPTOMS OF CHROMOSOMAL ABNORMALITIES

Symptoms are the result of problems in the genetic structure of a baby’s chromosomes, the “packages” of genes and other DNA found in the nucleus of a cell.

There are many different types of syndromes that are the result of a chromosomal abnormality, and each has its own specific symptoms. However, most children with chromosomal abnormalities have mental retardation, learning disabilities, or behavioral problems.

Another symptom of chromosomal abnormality in a couple attempting to conceive is at least two spontaneous abortions. Talk to your health care provider about conducting an investigation of your chromosomes. This investigation comes back normal 95% of the time. If the results are not normal, you and your partner should meet with a human geneticist since this is an ever changing field.


TREATMENT FOR CHROSOMAL ABNORMALITIES

There are no cures for chromosomal abnormalities but treatments are available to correct some of the conditions that result from them. For example, about half of babies born with Down syndrome have a heart defect. About 10 percent are born with intestinal malformations that require surgery, and more than 50 percent have some visual or hearing impairment. Treatments for many of these conditions allow a better quality of life. Most communities offer special education for mentally handicapped children.

Because most chromosomal abnormalities are not treatable, genetic counseling can offer guidance to couples who are carriers of chromosomal abnormalities. Once the risk of passing on an abnormality is assessed, the couple can then decide whether to continue to try to conceive using their own eggs and sperm, try using donor eggs or donor sperm, consider adoption, or remain childless.



Reducing Your Risk of Chromosomal Abnormalities



The risk of passing a chromosomal abnormality on to your baby increases with the mother’s age. There has been, however, substantial research and development in this field so most women in their late 30s and 40s can have a health pregnancy and a normal, healthy baby.

If you are over 35 and trying to conceive, consider the following guidelines to increase your changes of a successful, healthy pregnancy and baby:
See a doctor before you try to conceive to review your medical conditions, medications, and immunizations.
Take a prenatal vitamin containing 400 micrograms of folic acid daily before you become pregnant and through the first month of pregnancy to help prevent neural tube defects.
Get early and regular prenatal care.
Eat a variety of nutritious foods, including foods containing folic acid, like fortified breakfast cereals, enriched grain products, leafy green vegetables, oranges and orange juice, and peanuts.
Begin pregnancy at a healthy weight.
Do not smoke or drink alcohol.
Don't use any drug, even over-the-counter medications or herbal preparations, unless recommended by a health care provider who knows you are pregnant.
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Attention Deficit Hyperactivity Disorder (ADHD) and Attention Deficit Disorder (ADD)


Definition

Attention deficit hyperactivity disorder (ADHD) is a chronic behavioral disorder of childhood onset (by age seven). It is characterized by behavior that is hyperactive, impulsive, and/or inattentive. These behaviors must persist for at least six months and be present in two environments (home, work, or school). ADHD affects children, adolescents, and adults.


Causes

The cause of ADHD is unknown. It most likely is caused by a chemical imbalance in the brain. There also appears to be a genetic factor since ADHD can run in families.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.


All children display some of the symptoms of ADHD sometimes. Children with ADHD, however, have symptoms that are noticeably more severe and consistent. Unlike normal children with lots of energy, children with ADHD often have difficulty in school and with their family and peers.

Behaviors linked to ADHD can last into adulthood. In adulthood, ADHD symptoms can continue to cause relationship difficulties, as well as problems with job performance and retention.

There are three types of ADHD (based on the symptoms displayed):

Inattentive (classic "ADD")–predominantly inattentive
Hyperactive-impulsive–predominantly hyperactive and impulsive
Combined–combined inattentive, hyperactive, and impulsive
Inattentive (classic "ADD")
Easily distracted by sights and sounds
Doesn't pay attention to detail
Doesn't seem to listen when spoken to
Makes careless mistakes
Doesn't follow through on instructions or tasks
Avoids or dislikes activities that require longer periods of mental effort
Loses or forgets items necessary for tasks
Is forgetful in day-to-day activities
Hyperactive-impulsive
Is restless, fidgets, and squirms
Runs and climbs and is not able to stay seated
Blurts out answers before hearing the entire question
Has difficulty playing quietly
Talks excessively
Interrupts others
Has difficulty waiting in line or waiting for a turn
Combined
Has a combination of the above symptoms

Combined ADHD is the most common type.

Many people with ADHD also often have:
Depression-Anxiety-Conduct disorder-Oppositional defiant disorder-Learning disorders-Substance abuse-
Diagnosis

There is no standard test to diagnose ADHD. The diagnosis is made by a trained mental health professional. Family and teachers are involved as well.

The American Academy of Pediatrics recommends that the following guidelines be used for diagnosis in children 6-12 years of age:

Diagnosis should be initiated if a child shows signs of difficulty in:

School--Academic achievement--Relationships with peers and family
During diagnosis, the following information should be gathered directly from parents, caregivers, teachers, or other school professionals:
Assessment of symptoms of ADHD in different settings (home and school)
Age at which symptoms started---How much the behavior affects the child's ability to function
The healthcare professional should examine the child for:
Other conditions that might be causing or aggravating symptoms
Learning and language problems—Aggression--Disruptive behavior--Depression or anxiety--Psychotic symptoms
Personality disorder

For a diagnosis of ADHD to be made, symptoms must:
Be present in two or more of the child's settings
Interfere with the child's ability to function for at least six months

ADHD diagnosis is often complicated by the presence of other, sometimes co-existing, disorders such as learning disorder, conduct disorder, depression, anxiety disorder, and adjustment disorder.

Treatment

Therapies aim to improve the child's ability to function. Guidelines from the American Academy of Pediatrics encourage physicians to work as a team with parents and school personnel. Together they can set realistic treatment goals and evaluate the child's response.

Treatments include:

Medication

Medications can help control behavior and increase attention span. Stimulants are the most common treatment for ADHD. They increase activity in parts of the brain that appear to be underactive in children with ADHD.

Stimulant medications include:

Methylphenidate (Ritalin, Concerta, Metadate, Daytrana)

Dextroamphetamine (Dexedrine)

Amphetamine (Adderall)

Atomoxetine (Strattera)

In February 2007, the US Food and Drug Administration (FDA) directed the manufacturers of all drugs approved for the treatment of ADHD to develop Patient Medication Guides to alert patients to possible cardiovascular risks and adverse psychiatric symptoms associated with the medicines. There have been reports of sudden death in patients with underlying serious heart problems or defects and of stroke or heart attack in adults with certain risk factors. Another FDA review revealed a slight increased risk (about 1 per 1,000) for drug-related psychiatric adverse events, such as hearing voices, becoming suspicious for no reason, or becoming manic, even in patients who did not have previous psychiatric problems.

Other drugs include:

Antidepressants–such as imipramine, Effexor, and Wellbutrin

Atomoxetine (Strattera)

Clonidine (used for Tourette's syndrome)–to treat impulsivity

BEHAVIOR THERAPY

Children who take medication and practice behavioral techniques do better than those who just use medication. Sometimes behavioral therapy includes working one-on-one with a therapist. Together they practice social and problem-solving skills. Counselors will also teach parents and teachers to modify the child's behavior through positive reinforcement. This could involve change in the classroom as well as in parenting style. Often, daily report cards are exchanged between parents and teachers.

PREVENTION

There are no guidelines for preventing ADHD because the cause is unknown. Proper treatment can prevent problems later in life with school, relationships, and drug and alcohol abuse.