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Revision as of 16:11, 29 July 2011

For the WikiDoc page for this topic, click here

Template:DiseaseDisorder infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Assistant Editor-in-Chief: Ethan Leeman

Overview

Down syndrome, or Down's syndrome (primarily in the United Kingdom), trisomy 21, or trisomy G, is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Down syndrome in a fetus can be identified with amniocentesis during pregnancy, or in a baby at birth.

Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although it is statistically much more common with older mothers. Other factors may also play a role.

Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.

What are the symptoms of Down syndrome?

Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed. Common physical signs include:

Decreased muscle tone at birth
Excess skin at the nape of the neck
Flattened nose
Separated joints between the bones of the skull (sutures)
Single crease in the palm of the hand
Small ears
Small mouth
Upward slanting eyes
Wide, short hands with short fingers
White spots on the colored part of the eye (Brushfield spots)

Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.

Children may also have delayed mental and social development. Common problems may include:

Impulsive behavior
Poor judgment
Short attention span
Slow learning

As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.

Many different medical conditions are seen in people with Down syndrome, including:

Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
Dementia may be seen
Eye problems, such as cataracts (most children with Down syndrome need glasses)
Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia
Hearing problems, probably caused by regular ear infections
Hip problems and risk of dislocation
Long-term (chronic) constipation problems
Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)
Teeth that appear later than normal and in a location that may cause problems with chewing
Underactive thyroid (hypothyroidism)

Who is at highest risk?

Experts recommend genetic counseling for persons with a family history of Down syndrome who wish to have a baby. A woman's risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older. Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition. Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome. The American College of Obstetricians and Gynecologists recommends offering Down syndrome screening tests to all pregnant women, regardless of age.

When to seek urgent medical care?

A health care provider should be consulted to determine if the child needs special education and training. It is important for the child to have regular check ups with his or her doctor.

Diagnosis

A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.

A blood test can be done to check for the extra chromosome and confirm the diagnosis. See: Chromosome studies

Other tests that may be done include:

Echocardiogram to check for heart defects (usually done soon after birth)
ECG
X-rays of the chest and gastrointestinal tract

Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:

Eye exam every year during infancy
Hearing tests every 6 - 12 months, depending on age
Dental exams every 6 months
X-rays of the upper or cervical spine between ages 3 - 5 years
Pap smears and pelvic exams beginning during puberty or by age 21
Thyroid testing every 12 months

Treatment options

There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined. Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.

Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:

Be taught about pregnancy and taking the proper precautions
Learn to advocate for themselves in difficult situations
Be in a safe environment

If the person has any heart defects or problems, check with the physician about the need for antibiotics to prevent heart infections called endocarditis.

Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.

Where to find medical care for Down syndrome

Directions to Hospitals Treating Down syndrome

What to expect (Outlook/Prognosis)

These factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups. However, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down Syndrome who survive into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.

Possible Complications

Airway blockage during sleep
Compression injury of the spinal cord
Endocarditis
Eye problems
Frequent ear infections and increased risk of other infections
Hearing loss
Heart problems
Gastrointestinal blockage
Weakness of the back bones at the top of the neck

Sources

Template:SIB

Template:WH Template:WS

@@ Line 1: / Line 1: @@
 '''For the WikiDoc page for this topic, click [[Down syndrome|here]]'''
 {{SI}}
+{{DiseaseDisorder infobox |
+  Name           = Down syndrome |
+  ICD10          = {{ICD10|Q|90||q|90}} |
+  ICD9           = {{ICD9|758.0}} |
+  ICDO           = |
+  Image          = Drill.jpg <!--- Do not change this picture without discussing it in the Down syndrome discussion page. Because of continued vandalism, pictures will be immediately reverted. ---> |
+  Caption        = Boy with Down syndrome assembling a bookcase|
+  OMIM           = 190685 |
+  OMIM_mult      = |
+  MedlinePlus    = 000997 |
+  eMedicineSubj  = ped |
+  eMedicineTopic = 615 |
+  DiseasesDB     = 3898 |
+  MeshID         = D004314 |
+}}
+{{CMG}};'''Assistant Editor-in-Chief:''' Ethan Leeman
-'''Editor-in-Chief:''' Ethan Leeman
+==Overview==
+'''Down syndrome''', or Down's syndrome (primarily in the United Kingdom), trisomy 21, or trisomy G, is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Down syndrome in a fetus can be identified with [[amniocentesis]] during pregnancy, or in a baby at birth.
-{{EJ}}
+Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although it is statistically much more common with older mothers. Other factors may also play a role.
-==What is Down syndrome?==
-'''Down syndrome''', or Down's syndrome (primarily in the United Kingdom), trisomy 21, or trisomy G, is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. The condition is characterized by a combination of major and minor differences in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Down syndrome in a fetus can be identified with amniocentesis during pregnancy, or in a baby at birth.
-Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although it is statistically much more common with older mothers. Other factors may also play a role.
 Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.
 ==What are the symptoms of Down syndrome?==
-Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin), oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold), muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) or macroglossia, a short neck, white spots on the iris known as Brushfield spots, excessive joint laxity including atlanto-axial instability, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. They also may have a broad head and a very round face.
+Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed. Common physical signs include:
+*Decreased muscle tone at birth
+*Excess skin at the nape of the neck
+*Flattened nose
+*Separated joints between the bones of the skull (sutures)
+*Single crease in the palm of the hand
+*Small ears
+*Small mouth
+*Upward slanting eyes
+*Wide, short hands with short fingers
+*White spots on the colored part of the eye (Brushfield spots)
+Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.
-The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any related disability or illnesses.
+Children may also have delayed mental and social development. Common problems may include:
+*Impulsive behavior
+*Poor judgment
+*Short attention span
+*Slow learning
+As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.
-Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.
+Many different medical conditions are seen in people with Down syndrome, including:
+*Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
+*[[Dementia]] may be seen
+*Eye problems, such as cataracts (most children with Down syndrome need glasses)
+*Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia
+*Hearing problems, probably caused by regular ear infections
+*Hip problems and risk of dislocation
+*Long-term (chronic) constipation problems
+*[[Sleep apnea]] (because the mouth, throat, and airway are narrowed in children with Down syndrome)
+*Teeth that appear later than normal and in a location that may cause problems with chewing
+*Underactive thyroid ([[hypothyroidism]])
-The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, congenital heart disease (typically a ventricular septal defect), hearing deficits (maybe due to sensory-neural factors, or chronic serous otitis media, also known as Glue-ear), short stature, thyroid disorders, and Alzheimer's disease. Other less common serious illnesses include leukemia, immune deficiencies, and epilepsy.
+==Who is at highest risk?==
+Experts recommend genetic counseling for persons with a family history of Down syndrome who wish to have a baby. A woman's risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older. Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition. Tests such as [[nuchal translucency ultrasound]], [[amniocentesis]], or [[chorionic villus]] sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome. The American College of Obstetricians and Gynecologists recommends offering Down syndrome screening tests to all pregnant women, regardless of age.
-However, health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer — although it is, as yet, unclear whether the reduced incidence of various fatal cancers among people with Down syndrome is as a direct result of tumor-suppressor genes on chromosome 21, because of reduced exposure to environmental factors that contribute to cancer risk, or some other as-yet unspecified factor. In addition to a reduced risk of most kinds of cancer, people with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy.
+==When to seek urgent medical care?==
+A health care provider should be consulted to determine if the child needs special education and training. It is important for the child to have regular check ups with his or her doctor.
-Cognitive development in children with Down syndrome is quite variable. It is not currently possible at birth to predict the capabilities of any individual reliably, nor are the number or appearance of physical features predictive of future ability. The identification of the best methods of teaching each particular child ideally begins soon after birth through early intervention programs. Since children with Down syndrome have a wide range of abilities, success at school can vary greatly, which underlines the importance of evaluating children individually. The cognitive problems that are found among children with Down syndrome can also be found among typical children. Therefore, parents can use general programs that are offered through the schools or other means.
+==Diagnosis==
+A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.
-Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay, requiring speech therapy to improve expressive language. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Effects of the disorder on the development of gross motor skills are quite variable. Some children will begin walking at around 2 years of age, while others will not walk until age 4. Physical therapy, and/or participation in a program of adapted physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children.
+A blood test can be done to check for the extra chromosome and confirm the diagnosis. See: Chromosome studies
-Individuals with Down syndrome differ considerably in their language and communication skills. It is routine to screen for middle ear problems and hearing loss; low gain hearing aids or other amplification devices can be useful for language learning. Early communication intervention fosters linguistic skills. Language assessments can help profile strengths and weaknesses; for example, it is common for receptive language skills to exceed expressive skills. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication. Relatively little research has focused on the effectiveness of communications intervention strategies.
+Other tests that may be done include:
+*[[Echocardiogram]] to check for heart defects (usually done soon after birth)
+*[[ECG]]
+*X-rays of the chest and gastrointestinal tract
-In education, mainstreaming of children with Down syndrome is becoming less controversial in many countries. For example, there is a presumption of mainstream in many parts of the UK. Mainstreaming is the process whereby students of differing abilities are placed in classes with their chronological peers. Children with Down syndrome may not age emotionally/socially and intellectually at the same rates as children without Down syndrome, so over time the intellectual and emotional gap between children with and without Down syndrome may widen. Complex thinking as required in sciences but also in history, the arts, and other subjects can often be beyond the abilities of some, or achieved much later than in other children. Therefore, children with Down syndrome may benefit from mainstreaming provided that some adjustments are made to the curriculum.
+Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:
+*Eye exam every year during infancy
+*Hearing tests every 6 - 12 months, depending on age
+*Dental exams every 6 months
+*X-rays of the upper or cervical spine between ages 3 - 5 years
+*Pap smears and pelvic exams beginning during puberty or by age 21
+*Thyroid testing every 12 months
-Some European countries such as Germany and Denmark advise a two-teacher system, whereby the second teacher takes over a group of children with disabilities within the class. A popular alternative is cooperation between special schools and mainstream schools. In cooperation, the core subjects are taught in separate classes, which neither slows down the typical students nor neglects the students with disabilities. Social activities, outings, and many sports and arts activities are performed together, as are all breaks and meals.
+==Treatment options==
+There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined. Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.
-Fertility amongst both males and females is reduced; males are usually unable to father children, while females demonstrate significantly lower rates of conception relative to unaffected individuals.[citation needed] Approximately half of the offspring of someone with Down syndrome also have the syndrome themselves. There have been only three recorded instances of males with Down syndrome fathering children.
+Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:
+*Be taught about pregnancy and taking the proper precautions
+*Learn to advocate for themselves in difficult situations
+*Be in a safe environment
+If the person has any heart defects or problems, check with the physician about the need for antibiotics to prevent heart infections called endocarditis.
-==Genetics==
+Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.
-Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history, and pure chance. Down syndrome occurs in all human populations, and analogous effects have been found in other species such as chimpanzees and mice. Recently, researchers have created transgenic mice with most of human chromosome 21 (in addition to the normal mouse chromosomes). The extra chromosomal material can come about in several distinct ways. A typical human karyotype is designated as 46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement typical of females and 46 chromosomes with an XY arrangement typical of males.
-==Screening==
-Pregnant women can be screened for various complications during pregnancy. Many standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. In the United States, ACOG guidelines recommend that non-invasive screening and invasive testing be offered to all women, regardless of their age, and most likely all physicians currently follow these guidelines. However, some insurance plans will only reimburse invasive testing if a woman is >34 years old or if she has received a high-risk score from a non-invasive screening test.
-Amniocentesis and CVS are considered invasive procedures, in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. The risks of miscarriage for CVS and amniocentesis are often quoted as 1% and 0.5% respectively. There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester. Due to the nature of screens, each has a significant chance of a false positive, suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality. Screen positives must be verified before a Down syndrome diagnosis is made.
-==Treatment options==
-Treatment of individuals with Down Syndrome depends on the particular manifestations of the disorder. For instance, individuals with congenital heart disease may need to undergo major corrective surgery soon after birth. Other individuals may have relatively minor health problems requiring no therapy.
-Plastic surgery has sometimes been advocated and performed on children with Down syndrome, based on the assumption that surgery can reduce the facial features associated with Down syndrome, therefore decreasing social stigma, and leading to a better quality of life. Plastic surgery on children with Down syndrome is uncommon, and continues to be controversial.
 ==Where to find medical care for Down syndrome==
 [http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Down syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Down syndrome]
-==Epidemiology==
+==What to expect (Outlook/Prognosis)==
-The incidence of Down syndrome is estimated at one per 800 to one per 1000 births. In 2006, the Centers for Disease Control and Prevention estimated the rate as one per 733 live births in the United States (5429 new cases per year). Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes.
+These factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups. However, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down Syndrome who survive into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.
-Maternal age influences the chances of conceiving a baby with Down syndrome. At maternal age 20 to 24, the probability is one in 1562; at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19. Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35, reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42, also increases the risk of Down syndrome manifesting.
-Current research (as of 2008) has shown that Down syndrome is due to a random event during the formation of sex cells or pregnancy. There has been no evidence that it is due to parental behavior (other than age) or environmental factors.
+==Possible Complications==
+*Airway blockage during sleep
+*Compression injury of the spinal cord
+*[[Endocarditis]]
+*Eye problems
+*Frequent [[ear infections]] and increased risk of other infections
+*Hearing loss
+*Heart problems
+*[[Gastrointestinal]] blockage
+*Weakness of the back bones at the top of the neck
-==What to expect (Outlook/Prognosis)==
-These factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups. However, in recent decades, the life expectancy among persons with Down syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages. Most people with Down Syndrome who survive into their 40s and 50s begin to suffer from an Alzheimer's disease-like dementia.
 ==Sources==
-*[http://en.wikipedia.org/wiki/Down_syndrome Wikipedia]
+{{reflist}}
-{{reflist}}
 {{SIB}}
-[[Category:Patient Information]] {{WH}} {{WS}}
+[[Category:Pediatrics]]
+[[Category:Pediatrics patient information]]
+[[Category:Patient information]]
+[[Category:Genetic disorders]]
+[[Category:Genetic disorders patient information]]
+[[Category:Syndromes]]
+[[Category:Mature chapter]]
+{{WH}} {{WS}}