Opposite of autistic
Williams syndrome | Spectrum | Autism Research News
Implicated genes:
In a 2011 study, researcher engineered a mouse model lacking one copy of GTF21, a gene included in the Williams syndrome region.
GTF2I is one of a handful of genes that researchers consider to be key players in Williams syndrome. The protein it encodes is a transcription factor, affecting the expression of other genes, but its precise role is unknown.
Control mice are interested in novelty — they eagerly investigate a new mouse or object placed in their cage. Once they’ve sniffed around a bit and the item becomes familiar to them, they lose interest, a process known as habituation.
When the GTF2I-deficient mice are shown a familiar object and a new object, however, they’re equally interested in both. And when a new mouse is introduced into their environment, they don’t habituate as rapidly as control mice do.
More than one gene may contribute to social abnormalities in the disorder. For example, a study published in October 2010 found that mice lacking a protein called PSD-95 are more social than controls. These mice also express about 50 percent less of CYLN2 a gene in the Williams syndrome region, compared with controls2.
Presented with a choice between exploring a room with an empty cage in it or a room with a cage holding a mouse inside, the PSD-95 mutant mice choose the room with the playmate. In fact, they spend even more time with the new mouse than do controls.
Language:
Prevailing wisdom says that Williams syndrome severely diminishes spatial and mathematical reasoning, while leaving language skills intact. A 2010 study, however, reports that children with the syndrome do not understand passive sentences that use abstract verbs, such as ‘love’ or ‘remember’3.
Relevance to autism:
In some ways Williams syndrome is the opposite of autism. For example, people with Williams syndrome love to talk and tell stories, whereas those with autism usually have language delay and little imagination.
Many people with Williams syndrome draw disjointed pictures, some with autism draw pictures in perfect detail. Infants with Williams syndrome stare at other people’s eyes and babies with autism avoid eye contact.
However, several individuals with Williams syndrome are also diagnosed with autism. This suggests that they share an underlying mechanism and understanding one disorder can shed light on the other.
Children with a duplication in the Williams syndrome region have some autism-like features4. Like children with autism, they struggle to speak and lag years behind their typical peers in language production.
There is also crossover between the genes implicated in each disorder. GTF21 interacts with DLX5 and DLX6, transcription factors implicated in autism5. The DLX genes are involved in the formation of neurons that release the neurotransmitter GABA, and may have a connection to the imbalance between neuronal excitation and inhibition seen in autism.
In October 2010, the Williams Syndrome Association hosted a symposium that included a discussion of the overlap between Williams syndrome and autism.
References:
- Sakurai T. et al. Autism Res. Epub ahead of print (2010) PubMed
- Feyder M. et al. Am. J. Psychiatry 167, 1508-1517 (2010) PubMed
- Perovic A. and K. Wexler J. Speech Lang. Hear. Res. 53, 1294-1306 (2010) PubMed
- Van der Aa N. et al. Eur. J. Med. Genet. 52, 94-100 (2009) PubMed
- Poitras L. et al. Development 137, 3089-3097 (2010) PubMed
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Living with Williams Syndrome, the 'opposite of autism'
Published
Image source, Tim Smith
Image caption,Chris Steel says he is happiest when he is acting, as he "wants to show people what he can do"
By Pippa Stephens
Health reporter, BBC News
"I get so anxious if I want to go out to things. I live with my Mum because I don't want to live on my own. I can't do money. I wish I could."
Chris Steel is 40 years old. He is remarkably friendly and engaging, and is happiest when he is on stage acting in plays such as George Orwell's Animal Farm.
As a child, his caring nature led him to take to the bedside of a victim of the Hillsborough disaster, with such compassion and diligence he was given an award by former UK Prime Minister Margaret Thatcher.
But he is unable to go out alone - once, when he did, his openness towards strangers and difficulty in understanding when he is in danger meant he lent his phone to a stranger, who stole it.
He has severe anxiety, and needs constant reassurance from the people around him.
'Reeling people in'
Chris has Williams Syndrome (WS), a rare genetic disorder affecting around one in 18,000 people in Britain. It has often been dubbed the 'opposite of autism'.
People with WS are empathetic, social, friendly and endearing but they tend to have a low IQ, making tasks such as counting money difficult.
They can feel anxious over stimuli such as the buzzing of a bee, or the texture of food.
The need for reassurance in some cases can leave children of loving households calling 999 and feigning an emergency, as they crave adult attention so much.
WS, first identified in 1961, can also cause heart problems, developmental delays, and learning disabilities.
For the psychological side of the disorder, acting can play to the strengths of people with WS. Chris says: "I am good at reeling people in and being a character in different things."
He acts with a charity called Mind the Gap, based in Bradford, near his home town of Bingley in West Yorkshire, and cites the time he was a pirate in a play called Treasure Island as amongst his favourites.
Behavioural subtleties
When he was a child, and visiting his father in hospital, Chris met Tony Bland, who was severely brain damaged when he was crushed in the Hillsborough stadium disaster in 1989.
Chris befriended Tony, and stayed, loyally, by his bedside for weeks. "Chris can talk to anyone and doesn't need a response," his mother Judy says.
Judy says he is also "great to take to parties" as he happily introduces himself to new people.
But there is a flip side of this social ease. Judy says Chris is "too trusting", and has been taken advantage of.
She said he also needs people around him to be happy and guide him in what opinions he should have.
People with WS may make prolonged eye-contact, and be over-engaging, which can put them in danger.
Language ahead of mind
There are also further aspects of the disorder which can land them in hot water.
Lizzie Hurst, chief executive at the Williams Syndrome Foundation, says: "People [with the disorder] conduct themselves in a way that makes them extremely vulnerable.
"They don't have the cognitive ability to match their linguistic age.
"There is a classic autistic profile to which Williams Syndrome is the polar opposite. People can gauge the mood of a crowd and adopt without understanding the nuances of the situation."
Image source, SPL
Image caption,People with Williams Syndrome can make good party companions, as they are friendly and compassionate
Ms Hurst says there were "questions to be raised" over whether people with WS could be legally responsible for themselves.
"I would say they cannot," she adds.
She is working to raise the profile of the disorder amongst GPs, as she says only one in 40 GPs will encounter the disorder and babies with WS can be difficult to identify.
Facial features in young children include a small, upturned nose, long upper lip, wide mouth, full lips, small chin and a white lacy pattern on the eye's iris.
Autism 'tidal wave'
Anxiety can be made worse if the disorder is not diagnosed, she said, as people feel even more isolated.
Ms Hurst's charity does not get any funding from the government, relying on fundraising and donations. She puts on barbecues, Christmas parties and holidays for people with WS and their families.
"I think the government should do more," she says. "It can be difficult when you see the surge of funding for the tidal wave of autism.
"WS people are just as needing as other people with mental disorders and in many ways they are more needing of support and attention, and that all comes at a price.
"
People with WS do not have a lower life expectancy than other people, and some may go on to get jobs, most often in a voluntary capacity, where their helpful nature can be useful.
Dr Debbie Riby, senior lecturer in the Department of Psychology at Durham University, has been working on the disorder for 12 years.
Genetic basis
She says WS occurs when part of chromosome seven is deleted, which happens sporadically.
"Anybody can have a child with Williams Syndrome," she says.
Dr Riby says there is no pre-natal screening, but often doctors can pick up clues if a young child has heart murmurs, and problems putting on weight.
She has been running parent focus groups to understand the anxiety side of WS to come up with practical steps families can take to help themselves keep their children calm and happy.
Dr Riby says: "The work around Williams Syndrome used to focus on the theoretical side. I wanted to focus on the practical side.
There is still an awful lot that we can do.
"The most important thing is for us to think about how we can use research to support families."
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What is autism? | VCERM them. A.M. Nikiforov EMERCOM of Russia in St. Petersburg
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Describing the problem of autism is a difficult task. Researchers do not yet know what exactly causes the disease and what is happening in the brain at that moment. There is no universal definition of autism.
Autism Spectrum Disorder (ASD) is the name of a group of brain developmental disorders. This disorder is quite common: about 1% of all people have it (in men it occurs 4-7 times more often than in women). In addition to autism itself, this disorder includes Asperger's syndrome, known as a more benign and high-functioning version of autism, and penetrating developmental disorder (something like an intermediate state between Asperger's and autism).
All of these conditions are characterized by impaired socialization and communication skills and repetitive/structured behaviors and attachments. The severity of certain impairments determines where a person is on the spectrum. Someone can be silent and remain completely immersed in some kind of repetitive activity for hours, someone can talk about their interests without interruption, not perceiving hints of stopping the story and not understanding irony or sarcasm. nine0003
The level of cognitive functions in autism ranges from disability to superintelligence. While it is no longer fashionable to associate autism with low IQ (scientists are beginning to acknowledge that this may be because standard IQ tests do not reflect the cognitive abilities of autistic children), recent studies show that almost half of children with ASD have average intelligence. or slightly above average.
ASD does not have a single known cause. It is believed that genetics plays an important role in it (autism occurs in relatives, the likelihood of its occurrence in both identical twins is higher than in fraternal twins, etc.
). However, it is not clear what is happening: there is no one “autism gene”, but only a complex set of interactions. However, it is clear that at least some genes are responsible for abnormal brain development in ASD. nine0003
The brain in autism
We know that autistic brains are wired differently, but we don't know exactly how (because the results of the study of connections contradict each other due to different methods and samples). Some studies have found that the brain with ASD is too strongly connected, while others have been found to be too weak. However, scientists believe that patterns are starting to emerge from this confusion, such as fewer connections between distant parts of the brain (and those connections are weaker), and more connections over short distances. nine0003
The theory of "intensive world" is based on these discoveries. She argues that local hyperconnectivity in certain areas of the brain leads to over-functioning, which in turn leads to hyper-receptivity to information and extreme work of attention and sensory processing.
This doesn't sound too bad, and may explain the geniuses' abilities, but the weak connection of distant sites makes it difficult to understand all this incoming information and the ability to prioritize the source of information (because the information cannot be properly integrated). This quickly overloads the mind, so people with ASD try to cope with sensory overload by withdrawing from society or immersing themselves in repetitive activities (which help create a sense of stability and keep an overly bright world within limits). And although this is actually a very interesting theory, it should be treated with caution until it is properly studied. nine0003
One of the main features of ASD is a disorder of social interactions. Autistic people may look like people who are not interested in social cues, or like people who are unable to read them. Among the most common problems, in varying degrees of severity, are the inability to decipher facial expressions, sarcasm, irony, feelings and other people's points of view.
There are a couple of things in the brain that can explain this phenomenon. One model for the development of social skills claims that we have an innate ability to recognize faces, and that the amygdala, one of the emotional centers, enhances this ability in infants, giving them pleasure when looking at the faces of people who care for them. As a result, we often look at faces and gain a lot of experience processing and reading their expressions. This is done with the help of the "fusiform face area" [fusiform face area, FFA], which, through experience, increases the ability to analyze facial expressions. The model assumes that this experience becomes the basis for understanding non-verbal communications and complex social interactions. And in the case of children with autism, it appears that the FFA and the amygdala do not develop correctly, which impairs the production of social experience. nine0003
Pervasive developmental disorder, unspecified
Pervasive developmental disorder is a general term that includes autism, Asperger's syndrome, and several other disorders.
When a patient appears to have some type of autism but does not quite fit the diagnostic formula, the patient is diagnosed with pervasive developmental disorder unspecified or atypical autism. Often these are people with "lower" functioning than people with a formal diagnosis of autism, but not necessarily. nine0003
High functioning autism
This is another commonly used term, although it does not have a diagnostic definition. It is used in relation to people who have pronounced symptoms of autism, but at the same time they have well-developed speech skills, and the level of intelligence is relatively "normal". The opposite of high-functioning autism is not "low-functioning autism" at all, as some people think. This is "classic autism" or "Kanner's autism" (named after Leo Kanner, who first described autism). nine0003
Asperger's Syndrome
This diagnostic term is used for people with autism who also have very good language skills (plus they may have other less noticeable differences).
There is debate about whether Asperger's syndrome is different from high-functioning autism or from the general diagnosis of autism, or whether it should be treated as a completely separate disorder. The term "Asperger's Syndrome" was coined by Lorna Wing, the author of the term "Autism Spectrum Disorder". nine0003
People with Asperger's Syndrome face unique challenges in life. Since their speech abilities are very high, the people around them (including professionals) assume that their social and life skills are as developed as their speech. This assumption is erroneous, since without exception, people with autism have significant problems with social skills, and this affects their educational and employment opportunities.
Most professionals use the terms "Asperger's syndrome" and "high functioning autism" interchangeably. nine0003
They agree that people with Asperger's are people with autism. However, the opposite is not true: not all people with autism have Asperger's.
We can say that Asperger's syndrome is a subtype of autism.
In the context of autism, it is interesting to study the article by Marjorie Olney (Olney, 2000), in which she analyzed the autobiographical accounts of people with autism and identified common features of their experiences. Her study data included:
Feelings. People with autism often reported having "altered" sensitivity to sounds, touch, sights, tastes, smells, and movements. One of the authors recalled that as a child, when she looked at other people, she saw only scattered parts of the body, and not people as a whole. Many people with autism have reported that sounds or visual information in the background is too distracting for them to filter out.
On the other hand, altered sensations are very often a source of great enjoyment for many people with autism. They often enjoy situations and objects that other people don't even notice. nine0003
Attention. Many people with autism report difficulty paying attention to more than one sensation at a time.
For example, if they are listening to something, they may not be able to simultaneously perceive what they see.
Perception of time and space. Some people with autism have reported severe problems with orientation in time and space that prevent them from understanding what will happen next. As with sensory issues, their perception of time and space may have been reduced or fragmented. As a result, they may not understand “what is happening” in the most ordinary situation, and also experience extreme anxiety in case of waiting, changing plans, or moving to another activity. nine0003
In situations like this, people with autism seem to be greatly helped by familiar activities and objects, as well as a rigid routine.
Strategies for self-regulation. Most people with autism reported having ways to calm down or manage their autism symptoms. Such strategies are often met with rituals, rhythmic activities, or repetitive behaviors.
Interestingly, these self-soothing activities fit the diagnostic criteria for autism and the triad of Wing and Gould disorders. They seem almost universal to people with autism and can include rhythmic, repetitive movements such as rocking the torso, shaking the hands, bellowing under the nose, pacing back and forth, and other motions without a specific purpose. nine0003
Some people with autism say that repetitive movement calms them and helps them cope with hypersensitivity. Others say that such movements help them think or focus.
For some people with autism, self-regulation strategies include rigid daily routines and daily routines. For example, it can be sorting things and storing them in a strictly defined place. This obsession with routine and order seems to help people with autism cope with severe anxiety, including difficulty orienting themselves in time and space. nine0003
Olney's list of features from autobiographical descriptions of autism demonstrates similarities with the concept of sensory processing disorder.
All together they can be considered as the third model of autism. This experiential/sensory processing model does not tell us anything about the causes of autism, but it does allow us to begin to understand how the different elements of the triad of disorders relate to each other.
Cognitive sphere
Measured level of intelligence. nine0042 "Intelligence" in people with autism can vary widely, from very low to very high. The level of intelligence does not depend on the severity of autism symptoms.
Concrete thinking. People with autism often think very concretely rather than abstractly. Their perception of the world can be extremely limited, intense and detailed. This can lead to difficulty understanding complex speech. People with autism learn more easily from demonstrations, visual examples, or diagrams than from verbal instructions. nine0003
When it comes to language, people with autism often interpret speech expressions literally.
Phrases such as "Keep your mouth shut", "We'll meet later", "Cheap words" can confuse them. A literal understanding or ignorance of the hidden meaning can cause negative feelings towards other people, since a person with autism may perceive a non-binding agreement as a firm promise or consider life advice to be a hard and fast rule.
Attention to detail. nine0042 Some people with autism have a developed ability to focus on details and notice patterns. They can easily notice that the books on the shelf are out of order, that the items on the table are stacked differently, or that not all of the data in the table fits together. This feature makes some people with autism very capable of detail-oriented work.
Fixation. Very often, people with autism have a fixation on a favorite topic or activity (this feature is part of the diagnostic criteria). Such people have a very strong motivation to experience, study and think about their favorite topic, and if they have developed the ability to speak, often such people constantly talk about their favorite topic, because of which they can monopolize the conversation.
Some people are attracted to ordered systems such as computers, lists of information, or special kinds of machinery (such as light bulbs or vending machines). Also, a person with autism may have a fixation on the rhythm of words, counting, or lists of objects. Non-speaking people may have fixations on feeling certain surfaces, repeating complex rituals, or rocking back and forth. nine0003
A person with autism's knowledge of a favorite topic or activity can be surprisingly deep, but perhaps also very narrow. Also, a person with autism may not understand that other people are not interested in this topic. However, if a person's instructions, responsibilities, or job tasks are consistent with their personal fixations, then those fixations can become highly functional.
Communication and two-way communication
Expressive language (oral speech, communication with other people). Some people with autism have advanced language skills and an extensive vocabulary.
Others have very limited speech skills. Many people with autism, even those with advanced language skills, express emotions through behavior rather than words, but the meaning of a particular behavior varies from person to person.
It is very important that the people around each person with autism understand the meaning of the language of his behavior.
Receptive tongue (listening comprehension, understanding other people). Most (but not all) people with autism process information better visually than aurally. During a conversation, a person with autism needs long pauses to process verbal information.
A person with autism may also need extra time to answer a question or make a decision. Visual information (diagrams, color coding, symbolic images, written information, and so on) can help a person with autism to better understand other people's speech. nine0003
Social interaction. The social skills of people with autism can be very different, but they all have some difficulty in perceiving social cues.
Some people with autism seem to be immersed in their inner world (although in reality they may be acutely aware of everything that is going on around them). Other people with autism may be very outgoing and people-oriented, but still find it difficult to correctly understand social situations and choose appropriate responses. Almost all people with autism can benefit from some form of social skills training. nine0003
Eye contact. Lack of eye contact is one of the most noticeable features of people with autism, especially when talking to other people. Others may mistakenly perceive the lack of eye contact as inattention, shyness, rudeness, or some kind of negative emotion. People with autism do not perceive eye contact as important, and for some, eye contact causes discomfort. Some people with autism find that making eye contact requires so much concentration that they cannot simultaneously focus on what the other person is saying. nine0003
Behavioral features
Sticking to routine.
People with autism often value established routines highly, and in any new environment quickly develop new routines. Changes in the usual order can be very frustrating for them, so it is always advisable to describe in advance in detail the upcoming changes to them. In some cases, the routines of a person with autism can become so rigid that they resemble obsessive-compulsive disorder. Similarly, some people with autism prefer a very orderly environment, they can arrange things in rows, align things, and so on. A person with autism may experience intense anxiety if things have been moved or if the room is in a lot of disorder. nine0003
Hint dependency and generalization difficulties. Routines are highly valued by people with autism and are often tied to specific elements of the environment. When such clue elements disappear from the familiar situation, the routine falls apart completely, which can lead to confusion, anxiety and dissatisfaction. Also remember not to teach a person with autism a skill in one setting and then ask them to repeat that skill in a completely different setting.
Generalizing a skill to different situations is difficult for people with autism, and one should, whenever possible, teach the person in a close environment, using the same cues as in the natural environment. nine0003
Gross motor problems. Such difficulties may be expressed in general clumsiness, strange posture and gait, difficulty walking or other movements.
Fine motor problems. Difficulty grasping small objects, problems with handwriting, and so on.
How to deal with special people?
- Be patient and friendly
- Be ready to help nine0131 Do not raise your voice or touch the person without permission
- Don't be offended by what they might tell you
- Do not talk about or ignore a person with autism in the third person
- Do not tell parents of children with autism how to behave
- Don't let others bully people with special needs
There is a misconception that people with ASD do their best to avoid contacts and do not need them - this is not true.
They have a need for communication, they just behave in a special way and react in a completely different way than we are used to. Be patient and be friendly. There are different people and they may have different needs, but they all deserve love and respect. nine0003
The article uses materials from the Vykhod Foundation for Assistance in Solving Autism Problems in Russia, Geektimes and Meduza publications.
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Early childhood autism
Autism (from the Greek autos - self) is a mental state characterized by the predominance of a closed inner life and an active withdrawal from the outside world. Autism can be either a secondary symptom of schizophrenia (see the Schizophrenia section) or an independent nosological entity. In the latter case, it occurs in the first years of life and is called early childhood autism (EDA) .
RDA, which is not included in the spectrum of schizophrenic symptoms, is characterized by disorders in all areas of the psyche - sensorimotor, perceptual, cognitive, speech and emotional, as well as underdeveloped social interaction with others.
According to ICD-10, childhood (typical) autism and atypical autism are distinguished among psychological developmental disorders. Symptoms of childhood autism appear before the age of three years, while signs of mental disorders in atypical autism are observed after three years. More detailed classification is presented in table 1.
Table 1. ICD-10 classification of autism.
1. TYPICAL AUTISM
1.1. Autistic disorders,
1.2. Infantile autism,
1.3. Infantile psychosis,
1.4. Kanner's autism syndrome.
2. ATYPICAL AUTISM
2.1. Atypical childhood psychoses,
2.2. UMO with autistic traits.
3. Rett syndrome
The etiology and pathogenesis of early childhood autism is unclear. As explanations, the "theory of emotional coldness of parents", hereditary disorders and organic lesions of the central nervous system are put forward. nine0003
In connection with the problem of autism, the issues of diagnosing this disorder, the symptoms of which are similar to other disorders of neuropsychic development, are topical.
Children with early childhood autism in the first 2-3 years of life may be misdiagnosed, so a clear differentiation of RDA and other diseases with similar external manifestations is necessary.
The incidence of RDA ranges from 4 to 6 per 10,000 children. The ratio of boys to girls is approximately 4-5/1. The IQ of children with RDA is below 70 in more than two-thirds of cases.
The clinical picture of autistic syndrome in children with RDA is determined by manifestations of detachment, inability to form communication, to be aware of strangers and inanimate objects / proto-diacrisis phenomena /, lack of imitation, reactions to comfort and discomfort, monotonous and monotonous behavior with "symptoms of identity". They are characterized by the dominance of drives, opposite desires, affects, ideas, lack of unity and internal logic in behavior. Emotional reaction to loved ones is weakened up to complete external response (the so-called "affective blockade"). Insufficient reaction to visual and auditory stimuli gives children a resemblance to the blind and deaf.
In the external appearance of such children, with the usual prettiness, attention is drawn to the look turned and emptiness, inward, “look past”, with a predominance of visual perception on the periphery of the field of vision. Motor skills are usually angular, movements are non-rhythmic, "ossified" or inaccurate, with tendencies of motor stereotypes in the fingers, hands, tiptoe walking, monotonous running, jumping with support not on the entire foot. Speech is usually not directed to the interlocutor, there is no expression, gesticulation, the voice is either quiet or loud, the pronunciation of sounds varies from correct to incorrect. Often there are deviations in tonality, speed, rhythm, lack of intonation transfer, echolalia, incoherence, inability to conduct a dialogue. The tendency to mannered word creation has been preserved for a long time. Brief phrases with "loose" associations, shifting thoughts, and the absence of personal verbal and pronominal forms are characteristic. nine0003
Many children have disturbances in instinctive life, inversion of the sleep cycle, perverse appetite, variability in muscle tone to hypotension or hypertension.
After one and a half to two years, the dissociation of personality development becomes clear with a violation of the sequence of displacement of primitive functions by complex ones within all spheres of activity.
The severity of autism is not the same, which undoubtedly depends on the genetic predisposition and external factors (most authors distinguish 4 degrees of RDA). By 3-5 years of a child's life, dysontogenetic manifestations in the range of autistic syndrome reach their greatest severity; in the future, this type of disorder often becomes almost identical to the disorders in autistic schizoid psychopathy of the Asperger type. Closely related personality disorders of the autistic type can also occur in children with mild residual conditions due to minimal brain dysfunction or more obvious organic residual brain lesions. nine0003
Medical care is based on individual clinical verification of the child's condition and is represented by various therapeutic profiles: psychopharmacotherapy, psychotherapy (individual and family), physiotherapy, massage, etc.
