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Pathology and All About Autism | Diseases and conditions


Diseases and Conditions
Note: This translation is provided for educational purposes and may contain errors or be inaccurate.

All about autism | Diseases and conditions

Table of contents:

1. What is autism
2 causes of autism
3 types of autism
4 symptoms of autism
5 diagnosis of autism
6. treatment of autism
7 animals for autism therapies
8 frequently asked questions about autism
9. autism in children

1. What is autism

Autism It is defined as a set of complex disorders of the neurological development, characterized by difficulties in social relations, alterations of the capacity of communication, and restricted, repetitive, and stereotyped patterns of behavior.
Autism is the best-known of the generalized developmental disorders (PDD), which for this reason also referred to as autism spectrum disorders (ASD) disorders, neuropsychiatric disorders that present a variety of clinical manifestations and organic causes are considered, and variously and with varying degrees of intensity affect each individual; This means that two people with the same diagnosis may behave differently and have different skills.
That the incidence of autism around the world time is three to six children in every 1,000, existing four times more likely to appearance in men than in women, without distinction between races, socioeconomic status or geographical area.
Here you can see some more information on autism in children.

2 causes of autism

Often the causes of autism are unknown; Although in many cases it is suspected to be due to changes or mutations in the genes, not all genes involved in the development of this disease have been identified. Scientific investigations have linked the onset of autism in the child with the following causes:
Genetic cause of autism agents: it has been shown that there is a certain genetic load in autistic disorder. In clinical studies with twins, has been observed that when it detects the disorder in one of the brothers, there is a high proportion (around 90%) chance that the other brother also develop it. If the study is carried out in the family, the statistics show that there is a 5% chance of occurrence in the newborn in the event that you have a sibling with the disorder, which is a probability rather than it would have in the event that there were no documented history in his family. These data clearly indicate a genetic load linked to autistic disorder. Research aims to determine the genes involved in the emergence of the disorder, and have already established the direct relationship between inhibition of the NL1 neuroligina gene and the development of autism, although it is known that there are more genes involved.
Neurologic as a cause of autism agents: they have found neurological alterations, mainly in areas that coordinate the learning and behavior, in those patients diagnosed with autistic spectrum disorders.
Biochemical as a cause of autism agents: are have been able to determine alterations in the levels of certain neurotransmitters, especially serotonin and tryptophan.
Agents infectious and environmental as a cause of autism: certain infections or exposure to certain substances during pregnancy can cause alterations in the neural development of the foetus which, at the time of birth, can speak with various alterations such as, for example, autism spectrum disorders and malformations.

3 types of autism

The pervasive developmental disorders (PDD), include autism, are characterized because those affected have difficulties to engage in various areas: communication (verbal and non-verbal), social interaction, and activities, which is limited in number and presents a pattern of repetitive and monotonous.
Statistical Manual and diagnosis of mental disorders (DSM), in its latest revision, DSM-IV, includes five disorders under the category of the pervasive development disorders: autistic disorder, Asperger's syndrome, Rett syndrome, disorder child disintegration, and pervasive unspecified developmental disorder.
The differential diagnosis between different disorders sets addressing aspects such as the degree of development of the language, the age in which appeared the first symptoms and the severity of the disorder. There are no specific medical tests that determine which disorder is and, therefore, the diagnosis of different types of autism is based on the observation of the clinical presentation and interviews with the patient and his family.
Asperger syndrome: fairly mild form of autism in which patients are not able to interpret non-emotional States (lack of empathy). These people are unable to relate the information provided by the environment and the body language of people about the cognitive and emotional States of these.
Rett syndrome: rare cognitive disorder (approximately affects 1 in 10,000 people, mainly female) that manifests itself during the second year of life, or in a period not exceeding the first 4 years of life. It is characterized by the appearance of serious delays in the process of acquisition of language and motor coordination. In a high percentage of patients is associated with mental retardation severe or mild. The process of cognitive impairment is persistent and progressive.
Disorder of childhood disintegration: shows a sudden and chronic process of profound regression and breakup behavior after 3-4 years of cognitive and social development right. There is usually a first period of characteristic symptoms (irritability, restlessness, anxiety and relative hyperactivity), which is followed by the progressive loss of abilities of social relationship, with marked alterations of personal relationships, speech and language, loss or lack of interest in objects, establishment of stereotypic movements and mannerisms.
General development not otherwise specified (PDD-NOS) disorder: is diagnosed in children who have difficulties of communication, socialization and behavior, but which do not meet the specific criteria for the diagnosis of any of the other pervasive developmental disorders.

4 symptoms of autism

Although it is not easy to accurately identify a child with this disorder, the fact is that there are some symptoms which make suspect autism.

Main symptoms of autism

Social interaction is poor: tends to be detected initially by the people closest to the baby, when they observed that this is indifferent to his environment or presents long periods of focus of attention on an object or person in particular, isolating it from the rest. This alteration may appear from the moment of birth or develop past a certain time. They tend not to respond to the verbalization of the name, and in a great number of occasions, avoided eye contact with the people in their environment manifest form.
Lack of empathy: patients have difficulties to interpret the emotional situation of persons from its surroundings, as well as their thoughts, to be incapable of understanding the social guidelines, such as the tone of voice or facial expressions. Add to this situation that, in general, these people not focus their attention in the face of others, and therefore are not able to see and learn appropriate behavior patterns.
They have difficulty to communicate (verbal and non-verbal communication). Some individuals fail to develop any kind of language, do not speak nor are able to communicate with expressions or gestures; other if they speak, but the form and the content of your speech is not suitable, and tend to repeat words or phrases, or to ignore his interlocutor.
Stereotyped and repetitive movements: such as rocking, spinning compulsively, etc can also be a symptom of autism. In certain cases the subjects even develop injurios behaviours such as biting or head banging. They often have problems to assimilate any change in its environment, and exit routine or familiar environment causes them anxiety.
Inability to self-recognition: sometimes call themselves in third person, by its own name, rather than first-person "I" or "me".
Capacity of altered social game: are children who do not know, or are unable, to develop games involving interaction with other children. In addition, his imaginative capacity is very limited so it cannot participate in simulation games.
Other associated symptoms that patients may present are anxiety, sleep disorders, gastrointestinal disorders, violent crises, mental retardation...
The symptoms of autism can vary significantly, not only from one person to another, but in the same patient with the passage of time.
In a clinical way, has been established a clear relationship between the emergence of autistic disorder in children and an increased risk of developing certain concomitant disorders, mainly:
Fragile X syndrome: is the main cause of hereditary mental retardation and is due to a mutation in a gene in the X chromosome. Those affected by this disease have features in common with autism.
Tuberous sclerosis: its name is derived from the risk of tumors in the brain area. The disease affects the skin, the brain, the nervous system, the kidneys and the heart.
Epileptic seizures: it has been estimated that around 20-30% of children with autism spectrum disorders develop epilepsy in adults.
Tourette Syndrome: neurological disorder characterized by development on the subject of repetitive, stereotyped, involuntary movements and uttering sounds, vocal, consistent or not, called tics.
Sotos syndrome: people with this condition are characterized by excessive growth and macrocephaly, and usually have some mental retardation, difficulties in the acquisition of language, and learning disabilities. Some patients meet all the criteria for autism.
Attention deficit hyperactivity (ADHD) disorder.

5 diagnosis of autism

The autism spectrum disorders vary widely in the manifested symptoms and the severity of these, and can go completely unnoticed in the event that the symptoms are very mild, or are masked by other more serious diseases or with more pronounced symptoms.
Although the diagnosis of autism should always be performed by a multidisciplinary team (neurologist, psychologist, psychiatrist, therapist language and, occasionally, other specialists) in this type of disorders, there are certain symptoms that may cause to suspect the presence of this disorder. These symptoms are:

Symptoms of autism in the first year (infant)

• Baby shows little interest in the environment.
• Is able to stay a long time in the crib without requiring attention.
• Absence of response to the embrace of the mother.
• At the end of four months of life shows no social smile.
• There may be signs of joy not justified in almost none of the cases of social type.
• Do not shows interest or response to the maternal face.
• Is able to differentiate between family members.
• Lack of social interest.
• Indifferent to the game and carantonas.
• Unjustified prolonged crying.
• Absence of response to the verbalization of the name.

Second and third year

• Absence of emotional responses to the closest relatives (parents, grandparents, brothers, etc).
• Intense lack or total absence of verbal communication.
• Very marked lack or total absence of eye contact.
• Development of stereotyped repetitive movements (automecerse, head banging, flapping the hands).
• Lack of painful response.
• Fear of noises.
• Uncontrollable crying without apparent causal agent.
• Absence of game objects.
• Delay in the acquisition of habits of personal hygiene.
• Absent or poor sphincter control.

Symptoms of autism in children

• Same distinctive features as in previous stages, but tend to exacerbate rather than mitigate, as in the rest of the children.
• Are able to dress properly alone without external oversight.
• Do not relate to other children and do not tend to play social or imaginative, preferring the solitude.
• Compulsive tendency to the arrangement of objects (alignment of things). In general, the child usually show abnormal patterns of interest in intensity and focus, and they are very restricted (shows abnormal and excessive interest by a range of things).
• Communication of experiences and autoexperiencias low or non-existent.
• Verbal communication is scarce and defective. In many cases of repetitive and unusual type.
• Emergence of outbursts against itself or the environment, without apparent causal agent, and high intensity.

Symptoms of autism in the adolescencia-adultez

• At this time the symptoms are similar to the mental retardation, since they depend on factors such as:
• Language: they have difficulties to express needs, which may lead to frustration and other emotional disorders.
• Habits of self-help: the subject tends towards independence in tasks that usually require external support for its proper implementation, such as personal hygiene, food, clothing. Only through the early training the subject may achieve that independence of execution.
The diagnosis of autistic disorder is composed of various cognitive tests and language, as well as a detailed neurological examination. The objective of these tests, in addition to the own diagnosis of the disease, is ruled out is from other diseases, such as hearing or schizophrenia disorders (although people with schizophrenia may exhibit certain behaviors of autism-like character, usually their symptoms not usually manifest itself until the end of adolescence or the beginning of adulthood (, and often present alterations of perception such as hallucinations and delusions, non-existent in people with autistic spectrum disorders).
Depending on the degree of involvement and the skills involved, patients are diagnosed of one kind or another alteration of the autism spectrum. Thus, children with autistic symptoms but well structured and developed language skills tend to be diagnosed "Syndrome of Asperger's", while if they meet a marked set of symptoms of autistic character, but not enough to form classic autism, is usually a diagnosis of "Generalized unspecified developmental disorder".

6. treatment of autism

None of the autistic spectrum disorders be cured. All therapies are focused to the alleviation of the symptoms and to the improvement of the quality of life of the patient. Therapy tends to be individualized and adjusted to the precise needs cover the subject, getting better the more precocious is his home. The treatment of autism in this sense typically include:
Interventions behavioral educational: are diagnosed autism subject, both in his close family environment. The therapy consists of a series of sessions aimed at obtaining intensive capabilities and high structure, oriented subjects to develop social skills and language. It is often used the applied behavioral analysis. Therapy also includes the people that make up the environment of the subject (parents, brothers, teachers, etc.), in order to support them in the development of everyday life with an autistic disorder diagnosed person and acquiring the skills to interact with this person.
Emotional and psychological interventions: aimed at the acquisition and development of emotional expression and recognition of feelings, empathy development skills... As well as educational social interventions, therapy includes close social circle, which is also the expression of their feelings, frustrations, prints, etc., towards the subject with autistic disorder.
Drugs: there are no specific medicines for the treatment of autistic disorder, so it is used always palliative therapy of the symptoms developed by the subject. Thus, if convulsions, are prescribed one or more specific anticonvulsants, and if there is impulsivity, or hyperactivity, resort to the use of medicines in common use in patients with attention deficit disorder. The most common medications administered to these patients are anxiolytics, antidepressants and employees in obsessive-compulsive disorder.
Prevention of autism
In the majority of patients the symptoms presented a good evolution with early diagnosis and treatment. In general, the sooner you start therapy, it is better the prognosis of the patient; However, some variables have a fairly negative developments, to treat disorders in which the subject presented a correct development of skills up to certain age, which occurred a progressive not controllable recoil.
There is a percentage of patients who are able to develop a personal life and work standalone or with a degree of support low, although it is common that patients need support and external services throughout life.

7 animals for autism therapies

Dogs, horses, dolphins, and sea lions up to, have helped people with disabilities or socially isolated (alcoholics, drug addicts, the elderly...) to achieve or regain contact with their environment, or to develop their communication skills, such as those affected by autism spectrum disorders.
Investigations in this regard have shown that people suffering from autism can achieve great benefits if they follow therapies assisted with animals such as dogs and horses. The difficulties that these patients presented include the delay in the acquisition of the language (in many cases not even arrive to talk) and his inability to show empathy, which makes them isolated from the people in their environment and decreases their chances of learning how to function in society.
The animals preferred to implement this type of therapies are dogs and horses, among other things, for being the most accessible in our midst. In the case of the horse, hippotherapy offers the advantage of being an activity that is performed in the open air and in contact with nature. The affection of this animal, which is even able to perceive the physical and mental limitations of the patients, is combined with the therapeutic effect offering its movement, and which increases the balance, concentration and the self-esteem of those affected by physical or mental disabilities.
Dogs are intelligent and affectionate animals that enjoy human company and do not need to talk to convey his affection, do not judge people and do not require a level of demanding communication; In addition, they are capable of learning to obey simple commands and adapt perfectly to the routine that children with autism need.
The best therapists
The good results achieved by using animals to help people with a disability, or even in the treatment of depression or anxiety, have prompted studies on the therapeutic effects that you can get with animals as diverse as the sea lion. The fun of this type of experimental therapies look also helps to motivate patients and facilitates their participation. Although many animals could be used for this purpose, normally the most used as therapists by their availability are:
Dogs show a special affection and attachment by human beings and it is easy to train them. Always have collaborated with people in numerous works, as well as tasks of rescue, tracking, as guides... They have demonstrated their ability to help people who are blind or who have other physical disabilities, and probably why he thought in them to start therapy with autistic children.
In addition to his company, the dog can learn to obey the child using simple commands. The child is no longer a dependent being, and becomes someone important to another depending from it (in this case the dog). Therapy Dogs-based studies have shown that children who were suffering from an autism spectrum disorder have developed interactions with the animal, such as repeated visual contact, understanding of some manifestations of mood of the dog, how to move the tail when you're happy, signs of affection and have even been able to perform, without help, actions such as putting the collar to get a ride.
Progress, of course, are different depending on the capabilities of the child and its degree of autism, and therapy must be completed with other interventions. Dogs chosen for treatment have to be calm and balanced, and be trained to carry out their mission. Normally the favorite breeds are the golden retriever, labrador and German Shepherd.
Horse-assisted therapy has proven to improve balance and mobility, and this has been used in people suffering from different types of paralysis. But it also has effects on communication and behavior, and it can improve the quality of life for people with special needs. Hippotherapy is considered by the patient as a recreational activity, which takes place in a pleasant environment that helps relax. In addition, the horse is a very intelligent animal that seems to understand people when they try to communicate with him, and this allows to establish a narrow link between the rider and the horse; Thus, the affective relationship that establishes the patient with the animal allows you to develop their capacity for empathy, encouraging their social integration and their ability to adapt to different situations.
These friendly mammals are very bright and intelligent and very good results have been achieved when they have been used in therapy with autistic children. The studies that have been conducted on Dolphin have revealed that the interaction with dolphins improves concentration and communication skills of children affected by a pervasive development disorder.
To help children with autism Dolphin-assisted therapy makes years which is used in other European countries and in the United States. In Spain, the Department of Social Welfare in collaboration with the Catholic University of Valencia and l' Oceanogràfic in the city of Arts and Sciences, has developed this alternative therapy experiences, in order to deepen the knowledge of the possibilities of improvement which can offer people with this disorder.

8 frequently asked questions about autism

Then we will try to respond to some of the most common questions that often arise when someone faces for the first time to autism.
Is autism a genetic disease?
The investigations have revealed that, indeed, there are genes involved in the development of autism, but the genetic load may not fully explain the development of the disease, whose appearance would be rather the result of a combination of genetic and environmental factors. Still has not been identified genes, or the interaction between them, responsible for this disorder, but it is estimated that there are up to 30 different genes involved.
If a member of my family has autism, can I have a son with the disorder?
It is estimated that you between 10 and 15% of people with autism have an identifiable genetic condition. In fact, known genetic factors involved in various hereditary character disorders associated with autism, like syndrome fragile X, tuberous sclerosis, Tourette's syndrome, Sotos syndrome or neurofibromatosis type 1, among others. If one of these disorders is related to autism that your family suffers, the doctor can calculate the risk of recurrence of the disease in other members of the family, although it can not be determined accurately. If the cause of autism (which is in most cases) is unknown, it is not possible to predict what are the chances that your child will develop the disorder.
What is the difference between autism and other pervasive development disorders?
Autism is one of the pervasive developmental disorders, that share a number of symptoms, reason why sometimes a same patient is diagnosed different disorders until it determines the correct. In the case of autism, diagnosis must meet a fundamental criterion, which is that the patient has symptoms that make it hard you to engage in three different areas: communication (verbal and non-verbal, and especially the delay in the acquisition of language or even the inability to speak where there is no physical problems that prevent this); socialization (difficulties to interact with others, and lack of empathy); and behavior (behavior is stereotypical and repetitive, with resistance to any change). The age of onset of symptoms also guide professional diagnosis or other.
In spite of this, in some cases professionals are not in agreement in the diagnosis of certain individuals, because symptoms vary widely from one person to another, the differences are very subtle, and there is a medical test that used to determine accurately what disorder is treated, so that some patients are diagnosed them various pervasive developmental disorders or directly, a generalized disorder of unspecified development.
Why is autism a disease much more frequent among men than among women?
For every woman who suffers from autism, there are four men with the disorder, but the reason for this prevalence is unknown. It could be explained, however, in the event that autism is linked to the X chromosome, since the diseases associated with alterations in any of the X chromosome genes cause disease more frequently in men than in women. This is so because women have two X chromosomes, so if one of them is faulty the situation can be compensated with another copy, what happens in the case of males, who have one X chromosome and one chromosome and. However, scientists have not found evidence relating the X chromosome with the development of autism, although it has been recognized the association between autism and a condition called fragile X syndrome (around 2-3% of people with autism suffer from this syndrome), which is caused by the mutation of a gene located on the X chromosome precisely.
Is it possible to cure autism?
At the moment there is a treatment that permanently cure the disease, although investigations in this regard have shown that early diagnosis and intervention improves the quality of life and the prognosis of the patients. People affected by autism spectrum disorders can learn to perform numerous activities without assistance if they have a proper education. It is important to understand that, even with the same diagnosis, two people can act very differently and have different capabilities, so that its evolution will not be equal.
In 1995 a group of doctors, biologists and biochemists (most parents of children diagnosed with autism or other pervasive developmental disorders) created the group Defeat Autism Now! ("To overcome Autism Now!"), in order to evaluate therapies that were being implemented to those affected by this type of disorders as well as investigate new treatments to help them. The group is inspired by the work of Dr. Bernard Rimland, father of an autistic child who became a successful painter and who always said that autism can be cured.
The experts who are part of Defeat Autism Now! have established a protocol to assist in the treatment of those affected, taking into account their specificities, since they consider that there is no equal two autistic children. However, although many patients treated with this method have experienced remarkable improvements, not all manage to recover, since the cause of the disorder and the age at which treatment is started significantly influence the outcomes.

9. autism in children

What is autism

Autism is a neuropsychiatric disorder, which usually manifests itself during the first three years of life and is characterized by:
• Social isolation.
• Difficulties to communicate (language, mimicry...).
• Stereotyped patterns of behavior, in other words, gestures or expressions which are repeated without variation.

Causes of autism in children

The causes are not known exactly, but it is likely that both genetic factor and the environmental, play a fundamental role in this disease.
It has been discovered that there are certain genes that are related to the development of autism. In addition, studies of people with autism show with irregularities in several regions of the brain.


Individuals of every race and culture, and with different socio-economic levels may develop this disorder. However, the incidence in children is four times higher than for girls.
Globally it is estimated that 5 out of 10,000 people have classic autism. The prevalence increases if one takes into account children who have milder symptoms, then increase the amount to 21 in every 10,000 people.

Symptoms of autism in children

There are various symptoms that can help to know if a child has autism:
Early indicators:
• Do not babble no words per year of age.
• Do not says anything up to 12 months.
• Do not respond to his name.
• Do not pronounce words up to 16 months, or phrases of two or more words to approximately two years.
• Do not set a proper eye contact.
• Ranks excessively toys or other objects.
• No smiles or shows social responsiveness.
Late indicators:
• Do not have interest in making friends.
• Is able to start or maintain a conversation.
• It is unimaginative when it comes to play.
• Uses a repetitive language.
• You have routines and any attempt to modify them generates great anxiety.
• Shows an excessive attachment to certain objects.

Diagnosis of autism in children

The doctor will make a questionnaire to parents to gather all possible information on the conduct and development of the child. If there are suspicions that the child could suffer from this disorder will undergo you a comprehensive assessment, which includes a psychologist, a neurologist, a psychiatrist, a language therapist, and other specialists trained to diagnose children with autism.
The best is an early diagnosis, and already have means to detect this disorder before 24 months of age.

Treatment of childhood autism

Full-time, intensive, and appropriate intervention will improve the prognosis of children with autism. Currently, there are different behavioral and educational programs to treat autistic child, including construction activities and Visual AIDS that are useful.
Therapy behavioral: consists of training behaviors using behavioral psychology; desirable actions are stimulated, and the undesirable are limited. Both parents and educators must be previously trained to perform this therapy with children.
Special education program: aimed at favouring the development of communicative language and the interaction with other people. Schools that go the minor must have qualified staff and adequate material to help the child to develop language and facilitate their social integration.
Pharmacotherapy: in cases where the child does not respond to another type of treatment, the doctor may prescribe any drug.


The evolution of the disease depends on each person; Some will need assistance when they are adults, while others manage to live independently.
The Outlook will be worse in children whose IQ is low, and those who are not able to talk in understandable manner before the age of 5.
Traduction authorized by the website: MedlinePlus
Disclaimer: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.


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