Autism spectrum disorder (ASD) and autism are both general terms for a group of

complex disorders of brain development. These disorders are characterized, in

varying degrees, by difficulties in social interaction, verbal and nonverbal
communication and repetitive behaviors. With the May 2013 publication of the DSM5 diagnostic manual, all autism disorders were merged into one umbrella diagnosis
of ASD. Previously, they were recognized as distinct subtypes, including autistic
disorder, childhood disintegrative disorder, pervasive developmental disorder-not
otherwise specified (PDD-NOS) and Asperger syndrome.
ASD can be associated with intellectual disability, difficulties in motor coordination
and attention and physical health issues such as sleep and gastrointestinal
disturbances. Some persons with ASD excel in visual skills, music, math and art.
Autism appears to have its roots in very early brain development. However, the most
obvious signs of autism and symptoms of autism tend to emerge between 2 and 3
years of age. Autism Speaks continues to fund research on effective methods for
earlier diagnosis, as early intervention with proven behavioral therapies can improve
outcomes. Increasing autism awareness is a key aspect of this work and one in
which our families and volunteers play an invaluable role.
Not long ago, the answer to this question would have been we have no idea.
Research is now delivering the answers. First and foremost, we now know that there
is no one cause of autism just as there is no one type of autism. Over the last five
years, scientists have identified a number of rare gene changes, or mutations,
associated with autism. A small number of these are sufficient to cause autism by
themselves. Most cases of autism, however, appear to be caused by a combination
of autism risk genes and environmental factors influencing early brain development.
In the presence of a genetic predisposition to autism, a number of nongenetic, or
environmental, stresses appear to further increase a childs risk. The clearest
evidence of these autism risk factors involves events before and during birth. They
include advanced parental age at time of conception (both mom and dad), maternal
illness during pregnancy and certain difficulties during birth, particularly those
involving periods of oxygen deprivation to the babys brain. It is important to keep in
mind that these factors, by themselves, do not cause autism. Rather, in combination
with genetic risk factors, they appear to modestly increase risk.

A growing body of research suggests that a woman can reduce her risk of having a
child with autism by taking prenatal vitamins containing folic acid and/or eating a diet
rich in folic acid (at least 600 mcg a day) during the months before and after
conception.
Increasingly, researchers are looking at the role of the immune system in autism.
Autism Speaks is working to increase awareness and investigation of these and
other issues, where further research has the potential to improve the lives of those
who struggle with autism. Learn more

What is Turner syndrome?

Turner syndrome is a chromosomal condition that affects development in females.

The most common feature of Turner syndrome is short stature, which becomes
evident by about age 5. An early loss of ovarian function (ovarian hypofunction or
premature ovarian failure) is also very common. The ovaries develop normally at
first, but egg cells (oocytes) usually die prematurely and most ovarian tissue
degenerates before birth. Many affected girls do not undergo puberty unless they
receive hormone therapy, and most are unable to conceive (infertile). A small
percentage of females with Turner syndrome retain normal ovarian function
through young adulthood.
About 30 percent of females with Turner syndrome have extra folds of skin on the
neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling
(lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems.
One third to one half of individuals with Turner syndrome are born with a heart
defect, such as a narrowing of the large artery leaving the heart (coarctation of the
aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic
valve). Complications associated with these heart defects can be life-threatening.
Most girls and women with Turner syndrome have normal intelligence.
Developmental delays, nonverbal learning disabilities, and behavioral problems are
possible, although these characteristics vary among affected individuals.
Turner syndrome (TS) also known as UllrichTurner syndrome, gonadal dysgenesis,
and 45,X, is a condition in which a female is partly or completely missing an X chromosome.
[1]

Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set

ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at
birth. Typically they are without menstrual periods, do not develop breasts, and are unable to
have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most
people with TS have normal intelligence. Many, however, have troubles with spatial

visualization such as that needed for mathematics.[2] Vision and hearing problems occur more
often.[3]
Turner syndrome is not usually inherited from a person's parents.[4] No environmental risks are
known and the mother's age does not play a role. [4][5] Turner syndrome is due to a chromosomal
abnormality in which all or part of one of the X chromosomes is missing or altered. While most
people have 46 chromosomes, people with TS usually have 45. [6] The chromosomal abnormality
may be present in just some cells in which case it is known as TS with mosaicism.[3] In these
cases, the symptoms are usually fewer and possibly none occur at all. [7] Diagnosis is based on
physical signs and genetic testing.[8]
No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human
growth hormone injections during childhood may increase adult height. Estrogen replacement
therapy can promote development of the breasts and hips. Medical care is often required to
manage other health problems with which TS is associated.[9]
Turner syndrome occurs in between one in 2000[10] and one in 5000 females at birth.[11] All regions
of the world and cultures are affected about equally.[4] People with TS have a shorter life
expectancy, mostly due to heart problems and diabetes.[3] Henry Turner first described the
condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality

What is Klinefelter syndrome?

Klinefelter syndrome is a chromosomal condition that affects male physical and

cognitive development. Its signs and symptoms vary among affected individuals.
Affected individuals typically have small testes that do not produce as much
testosterone as usual. Testosterone is the hormone that directs male sexual
development before birth and during puberty. A shortage of testosterone can lead to
delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial
and body hair, and an inability to have biological children (infertility). Some
affected individuals also have genital differences including undescended testes
(cryptorchidism), the opening of the urethra on the underside of the penis
(hypospadias), or an unusually small penis (micropenis).
Older children and adults with Klinefelter syndrome tend to be taller than their
peers. Compared with unaffected men, adults with Klinefelter syndrome have an
increased risk of developing breast cancer and a chronic inflammatory disease
called systemic lupus erythematosus. Their chance of developing these disorders is
similar to that of women in the general population.

Children with Klinefelter syndrome may have learning disabilities and delayed
speech and language development. They tend to be quiet, sensitive, and
unassertive, but personality characteristics vary among affected individuals.

Klinefelter syndrome or Klinefelter's syndrome (KS) (/klanfltr/) also known

as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
[1]

The primary feature is sterility.[1] Often symptoms may be subtle and many people do not

realize they are affected. Sometimes symptoms are more prominent and may include weaker
muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth, and
less interest in sex.[2] Often it is only at puberty that these symptoms are noticed.[3] Intelligence is
usually normal; however, reading difficulties and problems with speech are more common.
Symptoms are typically more severe if three or more X chromosomes are present. [2]
Klinefelter syndrome usually occurs randomly. An older mother might increase the risk slightly.
The condition is not inherited from one's parents.[4] The underlying mechanisms involves at least
one extra X chromosome in addition to a Y chromosome such that there is a total of 47 or
more chromosomes rather than usual 46.[5] KS is diagnosed by the genetic test known as
a karyotype.[3]
While there is no cure, a number of treatments may help. [6] Physical therapy, speech and
language therapy, counselling, and adjustments of teaching methods may be
useful. Testosterone replacement may be used in those who have significantly low levels.
Enlarged breasts may be removed by surgery. About half of males affected with the help
of assisted reproductive technology have a chance of having children; however, this is expensive
and carries risks.[7] The condition has a nearly normal life expectancy.[6]
Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to
1:1000 live male births.[4][8] It is named after Harry Klinefelter who identified the condition in the
1940s.[9] 1956 saw the identification of the extra X chromosome.[10]Mice also can have the XXY
syndrome, making them a useful research model.

Pervasive developmental disorder

The diagnostic category pervasive developmental disorders (PDD), as opposed to specific
developmental disorders (SDD), refers to a group of five disorders characterized by delays in the
development of multiple basic functions including socialization andcommunication. The pervasive
developmental disorders are pervasive developmental disorder not otherwise specified (PDDNOS), which includes atypical autism and is the most common; autism, the best-known, now

understood to be part of a spectrum; Asperger syndrome; Rett syndrome; and childhood

disintegrative disorder (CDD).[1]
The first three of these disorders are commonly called the autism spectrum disorders; the last
two disorders are much rarer, and are sometimes placed in the autism spectrum and sometimes
not.[2][3]
The onset of pervasive developmental disorders occurs during infancy, but the condition is
usually not identified until the child is around three years old. Parents may begin to question the
health of their child when developmental milestones are not met, including age appropriate motor
movement and speech production.[4]
There is a division among doctors on the use of the term PDD.[1] Many use the term PDD as a
short way of saying PDD-NOS.[1] Others use the general category label of PDD because they are
hesitant to diagnose very young children with a specific type of PDD, such as autism. [1] Both
approaches contribute to confusion about the term, because the term PDD actually refers to a
category of disorders and is not a diagnostic label

What is autistic disorder?

Autistic disorder (also called autism; more recently described as "mindblindedness") is a
neurological and developmental disorder that usually appears during the first three years of
life. A child with autism appears to live in their own world, showing little interest in others and
a lack of social awareness. The focus of an autistic child is a consistent routine and includes
an interest in repeating odd and peculiar behaviors. Autistic children often have problems in
communication, avoid eye contact and show limited attachment to others.
More than 500,000 people in the US have been diagnosed with some form of autism. Autism
can prevent a child from forming relationships with others (in part, due to an inability to
interpret facial expressions or emotions). A child with autism may resist cuddling, play alone,
be resistant to change and have delayed speech development. Persons with autism tend to
exhibit repeated body movements (such as flapping hands or rocking) and have unusual
attachments to objects. However, many persons with autism excel consistently on certain
mental tasks (i.e., counting, measuring, art, music, memory).

What causes autism?

The cause of autism is not known. Research suggests that autism is a genetic condition. It is
believed that several genes are involved in the development of autism. Research studies in
autism have found a variety of abnormalities in the brain structure and chemicals in the
brain, however, there have been no consistent findings. One theory is the possibility that
autistic disorder is a behavioral syndrome that includes several distinct conditions. However,
parenting behaviors are not the cause or a contributing factor to the cause or causes of
autism.

Autism is a neurodevelopmental disorder characterized by impaired social

interaction, verbal and non-verbal communication, and restricted and repetitive behavior. Parents
usually notice signs in the first two years of their child's life. [2] These signs often develop
gradually, though some children with autism reach their developmental milestones at a normal
pace and then regress.[3] The diagnostic criteria require that symptoms become apparent in early
childhood, typically before age three.[4]
While autism is highly heritable, researchers suspect both environmental and genetic factors as
causes.[5] In rare cases, autism is strongly associated with agents that cause birth defects.
[6]

Controversies surround other proposed environmental causes;[7] for example, the vaccine

hypotheses have been disproven. Autism affects information processing in the brain by altering
how nerve cells and their synapses connect and organize; how this occurs is not well
understood.[8] It is one of three recognized disorders in the autism spectrum (ASDs), the other
two being Asperger syndrome, which lacks delays in cognitive development and language, and
pervasive developmental disorder, not otherwise specified (commonly abbreviated as PDDNOS), which is diagnosed when the full set of criteria for autism or Asperger syndrome are not
met

Asperger's syndrome,
also called Asperger's disorder, is a type of pervasive developmental disorder (PDD).
PDDs are a group of conditions that involve delays in the development of many basic
skills, most notably the ability to socialize with others, to communicate, and to use
imagination. There is a spectrum within the PDD disorders.
Although Asperger's syndrome is similar in some ways to autism -- another, more
severe type of PDD -- there are some important differences. Children with Asperger's
syndrome typically function better than do those with autism. In addition, children
with Asperger's syndrome generally have normal intelligence and near-normal
language development, although they may develop problems communicating as they
get older.
Asperger's syndrome was named for the Austrian doctor, Hans Asperger, who first
described the disorder in 1944. However, Asperger's syndrome was not recognized
as a unique disorder until much later.

What Are the Symptoms of Asperger's Syndrome?

The symptoms of Asperger's syndrome vary and can range from mild to severe.
Common symptoms include:

Problems with social skills: Children with Asperger's syndrome generally have
difficulty interacting with others and often are awkward in social situations. They generally do
not make friends easily. They have difficulty initiating and maintaining conversation.

Eccentric or repetitive behaviors: Children with this condition may develop odd,
repetitive movements, such as hand wringing or finger twisting.

Unusual preoccupations or rituals: A child with Asperger's syndrome may develop

rituals that he or she refuses to alter, such as getting dressed in a specific order.

Communication difficulties: People with Asperger's syndrome may not

make eye contact when speaking with someone. They may have trouble using facial
expressions and gestures, and understanding body language. They also tend to have
problems understanding language in context and are very literal in their use of language.

Limited range of interests: A child with Asperger's syndrome may develop an

intense, almost obsessive, interest in a few areas, such as sports schedules, weather, or
maps.

Coordination problems: The movements of children with Asperger's syndrome may

seem clumsy or awkward.

Skilled or talented: Many children with Asperger's syndrome are exceptionally

talented or skilled in a particular area, such as music or math.
Asperger syndrome (AS), also known as Asperger's syndrome, Asperger disorder (AD) or
simply Asperger's, is an autism spectrum disorder (ASD) that is characterized by significant
difficulties in social interaction and nonverbal communication, alongside restricted and repetitive
patterns of behavior and interests. It differs from other autism spectrum disorders by its relative
preservation of linguistic and cognitive development. Although not required for diagnosis,
physical clumsiness and atypical (peculiar or odd) use of language are frequently reported. [1]
[2]

The diagnosis of Asperger's was eliminated in the 2013 fifth edition of the Diagnostic and

Statistical Manual of Mental Disorders (DSM-5) and replaced by a diagnosis of autism spectrum
disorder on a severity scale.[3]

The syndrome is named after the Austrian pediatrician Hans Asperger who, in 1944,
studied and described children in his practice who lacked nonverbal communication
skills, demonstrated limited empathy with their peers, and were physically clumsy.[4] The
modern conception of Asperger syndrome came into existence in 1981[5] and went
through a period of popularization,[6][7] becoming standardized as a diagnosis in the early
1990s. Many questions and controversies remain about aspects of the disorder.[8] There

is doubt about whether it is distinct from high-functioning autism (HFA);[9] partly because
of this, its prevalence is not firmly established.[1]

The exact cause of Asperger's is unknown. Although research suggests the likelihood of
a genetic basis,[1] there is no known genetic cause,[10][11] and brain imaging techniques
have not identified a clear common pathology.[1] There is no single treatment, and the
effectiveness of particular interventions is supported by only limited data. [1] Intervention is
aimed at improving symptoms and function. The mainstay of management is behavioral
therapy, focusing on specific deficits to address poor communication skills, obsessive or
repetitive routines, and physical clumsiness.[12] Most children improve as they mature to
adulthood, but social and communication difficulties may persist.[8] Some researchers and
people on the autism spectrum have advocated a shift in attitudestoward the view that it
is a difference, rather than a disease that must be treated or cured.[13][14] In 2013,
Asperger's was estimated to affect 31 million people globally