After 100 years of research, autism remains a puzzle

Michael Wigler, a professor at Cold Spring Harbor Laboratory (CSHL) was surprised. A molecular biologist and geneticist, with a background in mathematics and medicine, he devoted two decades of his research career to studying the causes of autism. In the early 2000s, Wigler and his team revealed that a certain portion of autism cases have genetic underpinnings. One of the team’s goals was to elucidate the full extent of autism’s genetic causes in order to find clues to its treatment and prevention. The team thought they had a good theory, which they dubbed the “unified hypothesis,” but in 2017 that theory began to develop cracks. Now, the most recent findings produced by Wigler and his colleagues are not at all what they expected.

Based on theory, the team projected that affected siblings would share more genetic determinants inherited from their mothers than the fathers. But the findings showed the opposite. “In fact, we see a greater signal of sharing from the father than from the mother,” Wigler says. That parental gender surprise is a head-scratcher that the team has only recently been able to explain. “It’s a puzzle. And we do not like our solutions.”

photo of Michael Wigler
Cold Spring Harbor Laboratory Professor Michael Wigler

A complex condition, autism afflicts 1 in 44 children in the United States, according to the Centers for Disease Control. It manifests itself in a multitude of symptoms, from social awkwardness to anxiety and repetitive behaviors to resisting change. This variability is the reason why it’s called an autism spectrum disorder or ASD. Where on the spectrum an individual fits matters greatly. Those who fall into the high end of the spectrum have better prospects—they are the high-functioning individuals who often have special abilities such as superior math skills or photographic memory, which help them cope with life challenges, such as social anxieties. At the low end of the spectrum are those with intellectual disabilities and those who don’t talk at all. It’s estimated that 31% of children with ASD have an intellectual disability, and an even greater number have problems with motor skills.

Gender has always been a big part of the conundrum. Boys are about four times more likely to be diagnosed with autism than girls. According to the statistics published by the Johns Hopkins Bloomberg School of Public Health, 1 in 34 boys has autism (2.97%) compared to only 1 in 145 girls (0.69%). Girls often have different symptoms than boys. For example, they tend to suffer more from anxieties rather than display repetitive behaviors, and because anxieties can be masked or overlooked by clinicians, a certain percentage of girls may end up being misdiagnosed. Instead of being placed on the spectrum, some may be diagnosed with psychiatric disorders, such as depression or anxiety, says Catherine Lord, a practicing clinician who focuses on autism and is a professor of human development and psychology at the University of California, Los Angeles.

Some women self-diagnose later in life, having grown up without a clue that they might be autistic. Despite the increased focus on autism in the past two decades, which has lifted some of the social stigma from the condition, that trend is rising, Lord says. “The number of self-diagnosed people who are female is increasing every day,” she says. “And it’s not so much true for males.” Brandy Schillace, editor-in-chief of BMJ Medical Humanities, author, and host of Peculiar Book Club podcast, self-diagnosed when she was an adult, after being told to “not be weird in public” for most of her childhood. “What makes autism a disability is not that you are broken, but that society disables you because it’s not built around your needs,” Schillace says.

Gender is a big part of the conundrum. Boys are about four times more likely to be diagnosed with autism than girls.”

It’s hardly surprising that society doesn’t cater well to the people on the spectrum. After all, the exact definition of autism is still evolving. It took decades for society to even recognize autism properly as a condition. For a good chunk of the 20th century, autism was viewed as childhood schizophrenia. People with autism had been classified as psychopaths rather than neurodiverse individuals. Even the modern-day definition of autism as a spectrum disorder is still developing. The current fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-5, described certain autistic features differently from its predecessor, DSM-4, a testament to the fact that scientists are still working to fully identify its nuances.

The underlying causes of the disorder had been equally puzzling, sometimes leading scholars in the wrong directions, such as pinning the blame on the children’s mothers for their “cold and unemotional parenting.” And without knowing what causes autism, physicians had—and still have—no means of preventing it or reducing its severity or risk of occurring. Just like with any other affliction, the path to mitigating autism lies in understanding where it comes from. If medics understand autism causes better, they would be able to design better therapies and potentially even better prevention.

That’s exactly what Wigler has been doing for the past 20 years. As the genomic methods matured on the brink of the millennium, he hoped to find the answers in the genes of people on the spectrum. But piecing these answers together proved just as complicated and nonlinear as the history of this puzzling condition.

A complex history of a complex disorder

The two people typically credited with the definition of autism are Hans Asperger, an Austrian physician who practiced in Vienna before and during World War II and Leo Kanner, a Jewish psychiatrist born in 1894 in Klekotiv, then in Poland and now in Ukraine, who later left Europe for the United States. Both began using the term “autism” in the 1940s. Asperger, for whom the Asperger syndrome is named, described the children he studied as “autistic psychopaths,” and as recent findings revealed, went on to collaborate with the Nazis on euthanizing patients that were deemed mentally unfit to exist in society. Kanner’s paper described his patients as not relating “in the ordinary way” to people or situations, and said their “behavior is governed by an anxiously obsessive desire for the maintenance of sameness.” He was the one who, at first, explained the disorder is caused by unemotional parenting, coining the term “refrigerator mother”—a view he denounced later.

It took decades for the autism research community to find out that neither man was the first to define and describe autism. A Ukrainian-born Jewish psychologist named Grunya Sukhareva beat them by about 20 years. She was just well hidden behind the Iron Curtain.

Sukhareva graduated from medical school in Kyiv in 1915 and worked at the city’s psychiatric hospital. A few years later, she moved to Moscow, where she worked at the Pedagogical Sanatorium School for children with special needs. Some of them were traumatized by the dramatic events of the time—World War I, the Russian Revolution and civil war. Others were noticeably different from their peers: They had social deficits, motor-skills issues, and preferred to play alone or interact with adults rather than kids their age. Sukhareva described one of the boys, a 12-year-old who read everything he could find and never played with toys, as an introvert “with an autistic inclination into himself.”

Photo of little boy standing behind the window in sad mood
A complex condition, autism afflicts 1 in 44 children in the United States, according to the Centers for Disease Control. It manifests itself in a multitude of symptoms, from social awkwardness to anxiety and repetitive behaviors to resisting change. Image: © goodmoments –

Children with severe challenges sometimes lived in the sanatorium for two to three years, taking school classes and physical education, and receiving social- and motor-skills training. In a 1925 paper, Sukhareva described six boys with “autistic tendencies,” chronicling their behaviors in finest detail, including the fact that some were gifted—one excelled at playing violin and another had an incredible memory for numbers. Her findings, along with other records of the clinical work, were published in Russian and a year later in a German journal, where her name was misspelled as Ssucharewa. The paper was not translated into English, so neither her term autistic nor her detailed observations reached English-speaking psychiatrists. The German-speaking Asperger and Kanner might have read it, although it’s hard to tell because neither one mentioned her name or referenced her in their own papers. The fact that the German version of her name had several typos likely didn’t help either.

Nearly 100 years later, another Russian-speaking psychologist, Irina Manouilenko, found the original 1925 volume while working on her dissertation at the Karolinska Institute in Sweden. She decided to compare Sukhareva’s descriptions with the modern-day standard definitions in the DSM-5, published by the American Psychiatric Association. She was surprised to see how spot-on Sukhareva’s descriptions were. Manouilenko published these comparisons in a 2015 paper, “Sukhareva—Prior to Asperger and Kanner.” What the DSM-5 depicts as deficits in “social interactions” and understanding relationships, Sukhareva described as “flattened affective life,” “lack of facial expressiveness and expressive movements,” “tendency toward abstraction and schematization,” and “keeping apart from their peers, avoiding communal games.” And, where the DSM-5 lists “stereotyped or repetitive motor movements,” “insistence on sameness,” “fixated interests,” and “sensitivity to sensory input,” Sukhareva’s notes speak of “talking in stereotypic ways,” being “pedantic,” with “strong interests pursued exclusively,” and sensitivity to noise or smell. Moreover, they were worded so simply that any parent or grandparent could understand them.

The simple hypothesis that the mothers passed a strong autism-causing variant didn’t stand the test.”

With the only diagnostic tools available to her being the keen power of observation, Sukhareva couldn’t pin down the causes of this strange disorder. Instead, she focused on helping these children improve their social and motor skills by interacting with others and taking classes in painting, woodwork, and gymnastics—until they were ready to transfer to regular schools. Remarkably, the basic foundations of the interventions she set up haven’t changed much over a century. Even some modern schools like Meristem, which prepare autistic young adults for an independent life and employment, in essence follow similar principles. Nonetheless, it took more than a few decades for diagnostic and analytical tools to mature enough for scientists to start chipping away at the puzzle.

Combing through the genes

Wigler’s interest in autism stemmed from his early life experiences. His girlfriend’s brother was different from every other kid he knew. “He never looked you in the eye, but he knew every baseball player and all the statistics of the baseball players, and that’s all he would talk about,” Wigler says. “He made a profound impression on me.”

Wigler didn’t know the boy had autism. Later, in medical school, Wigler learned about the condition and became curious about its causes. At first, he doubted it was merely hereditary, attributing it to mutations called de novo mutations—not present in parents but arising in their child. “What struck me about this kid was that he was so different from anybody else in the family so I thought from the beginning that autism was the result of a new mutation.”

Autism causal mutations
Mutations that appear in a child which are not present in either parent—called de novo mutations—can be important in autism.

In the 1980s, he became interested in a method called genome difference analysis. The method had proved useful in studying cancer causes, so he decided to look for new mutations in the genomes of people with autism. At the time, such methods didn’t yet exist, so his team published a paper describing the theory behind building such technology. Shortly after, at the end of the 1980s, Russian scientist Nikolai Lisitsyn, who had been working on a similar problem, contacted Wigler’s lab. Lisitsyn had managed to solve a particular technical problem, and, detecting his interest in fleeing a collapsing Soviet state, Wigler invited him over to work at CSHL. This collaboration laid the foundation for the future methods of genomic analysis Wigler’s lab would follow for years to come.

In the early 2000s, Wigler’s team got a chance to put their genome mining tools to the test. Child psychiatrist Susan Folstein, at Tufts New England Medical Center at the time, had put together the first small simplex (only 1 child affected) collection of genomic DNA from about 200 families with instances of autism. She passed her collection of genomic DNA to James S. Sutcliffe, an associate professor of psychiatry at Vanderbilt University who studies the genetic underpinnings of autism spectrum disorders. Wigler, who was looking for such collections, got in touch. After applying their genomic analysis methods to the samples, Wigler and his colleagues Lakshmi Muthuswamy and Jonathan Sebat showed that de novo mutations most certainly play a role.

The particular culprits were “copy number variations”—genetic glitches in which large chunks of the genome get deleted or duplicated. They looked as if someone had torn a piece out of the DNA string. “Your genome is a long string. It’s a ribbon. And if you were to cut out a piece of the ribbon and then tie it together, you’d be missing a large piece of your ribbon,” Wigler explains. “Some of them are really large, hard to miss with our new techniques, as easy as seeing a crater on the moon with a low power telescope.”

Notably, not all de novo mutations cause trouble. There are about 100 to 200 de novo mutations in the genome for every birth, Wigler explains, and most of them don’t affect anything. For example, genes involved in the sense of smell or the immune system function vary greatly between people, and some variants may even be advantageous. “There’s great tolerance and probably even positive selection for variation in these genes,” he explains. But other genes’ functions are so essential and specific that any changes would render the organism inviable or severely disadvantaged. The large copy number mutations are of that type, just too massive not to leave a mark. And they were clearly more abundant in children that had autism than in their neurotypical peers. The team showed that the copy number variations were responsible for a substantial number of autism cases. That finding opened new horizons, sparking hope that by sequencing the DNA of people with autism and looking for smaller sequence variants that alter gene function, researchers would be able to pin down the causative genes.

photo of Michael Wigler discussing research findings with Peter Andrews
Michael Wigler discussing research findings with Peter Andrews, Senior Computer Scientist, in the Wigler Lab at Cold Spring Harbor Laboratory. The photograph was taken in 2018.

Previously, and still today, some scientists used more standard approaches, combing through collections of genomes for variants that might be common to people with similar disorders, a technique called Genome Wide Association Studies. One such collection was called AGRE for Autism Genetic Resource Exchange, an effort aimed to shed more light on familial autism, studying the multiplex families—those that had multiple siblings and multiple members affected. Another collection named the Autism Genome Project was composed of different groups across the U.S. and Europe and gathered information about affected siblings. “The idea was to see what regions of the genome are shared between affected individuals across large collections,” says Sutcliff. “And that effort failed to find loci strongly influencing autism incidence,” Wigler notes. “A very important failure, since it pointed to other causes, including new mutations.”

Consequently, the Simons Foundation followed the lead of Folstein, and created the Simons Simplex Collection, or SSC. The effort was led by Lord, an expert in diagnostic criteria. They amassed genetic samples from 2,600 families, where only one child affected was on the spectrum while no siblings or parents were. “With SSC there was hope to find the ‘core autism’—the mutation or set of genes specific to autism,” says Sutcliffe. By comparing the autistic child’s genome to the genomes of other family members, scientists aimed to pinpoint the genes that made this child different. Wigler worked closely with Lord to mine the SSC collection for answers and identify the genetic mishaps in children from families that did not have any other members affected. More recently, embracing the ideology of “strength in numbers,” the Simons Foundation launched SPARK, an ambitious ongoing effort to collect data from 50,000 families of any kind and, so far, has collected about 30,000.

Notably and somewhat strikingly, de novo mutations played out differently in boys versus girls. While boys with “comparable-size craters” succumbed to autism, the girls did not. “It took a larger hit to make a girl autistic than it took to make a boy autistic,” Wigler says. “That was one of the first indications that girls were resistant.” In their 2011 study, Wigler and his team explained that women have greater resistance to autism from genetic causes. The phenomenon became known as a female protective effect. “Female protective effect means that you need a higher load of mutations to rise to a phenotypically recognized autism spectrum disorder that can be clinically determined,” Sutcliff says.

Yet, as seminal as the findings were, overall they explained only about 30% of autism cases. Neither was it possible to identify that definitive “core autism” set of genes. “We had hoped that there was one, but the answer is ‘no, not really’,” Sutcliff says. “Today’s data doesn’t allow us to do that.”

The data is very hard to fit with standard genetic models.”

Aiming to solve the rest of the puzzle, Wigler’s team proposed the unified hypothesis of autism. They postulated that there must be other kinds of mutations that weren’t possible to see so easily. For example, these mutations may not be occurring together in the genome but are instead spread out across multiple genes in different places. They also hypothesized that these mutations would be transmitted largely from the mother because—while mothers were better protected as females—they still could carry the autism-causing variants and then pass them onto their children. “We made a unified hypothesis, stating that autism results from de novo mutations and is transmitted by the survivors of the de novo, namely the girls,” Wigler says.

Eventually, when there were enough large sample collections, with enough genome data, Wigler, in collaboration with Matt Wroten and Ivan Iossifov, both of Cold Spring Harbor Laboratory, and Kenny Ye from Albert Einstein College of Medicine, developed a method to test their hypothesis. Specifically, the team wanted to measure the genomic differences between siblings that were discordant for autism (meaning one has it and the other doesn’t) and concordant for autism (meaning both siblings have it). Overall, they applied the method to about 1,300 pairs of concordant siblings and 4,500 pairs of discordant siblings from the SSC, AGRE, and SPARK collections.

But the simple hypothesis that the mothers passed a strong autism-causing variant didn’t stand the test. “Surprisingly, we observed that the concordant siblings shared more of the fathers’ genomes.” Wigler says. “The more extensive sharing of paternal than maternal genomes contradicted our expectations that mothers will be the primary source of damaging variants in the high-risk multiplex families.” And that meant that there was more work to do: more hypotheses to formulate and prove.

Some hypotheses invoke complex genetics, and these might be correct, but Wigler and colleagues doubt it will be the full story. “The data is very hard to fit with standard genetic models,” he says. They already have some other ideas that might help explain the mystery. He and another Cold Spring Harbor Laboratory researcher, Tobias Janowitz, considered theories that the mother’s immune system plays a role, potentially impairing fetal development. Recent research supports such a theory. A 2017 study by Johns Hopkins Bloomberg School of Public Health team concluded that when pregnant mothers have fevers, their children’s risk of autism increases. A 2018 study by Columbia University researchers found that if a pregnant woman suffers a high fever in her second trimester, her child’s chances of developing autism increase by 40%.

Healthy pregnancies are a good start to reducing autism severity and risk.”

Michael Wigler, Ph.D.

The immune system can play an even greater role in the mother-father conundrum, Wigler thinks. For example, the father may be carrying an antigen—meaning a protein—that the mother’s body doesn’t like so it attacks it in the fetus. “The father may not be carrying an autism risk gene—just an antigen that the mother doesn’t like,” Wigler explains. “The kids who have autism, may be kids who’ve suffered from an immunological attack on them while they were in utero. Some portion of autism might not be caused by conventional genetics, but by the maternal-fetal conflict.”

While some genetic causes of autism, like the copy number variations, have become proven culprits, others will take longer to identify. A full list of autism’s genetic underpinnings might take years, if not decades, to put together, and it still may be incomplete. In the meantime, Wigler says, healthy pregnancies are a good start to reducing autism severity and risk. That involves parents and physicians. Doctors can monitor pregnancies better. They can intervene earlier. They can watch out for certain dangerous conditions that occur in pregnancies, such as preeclampsia—a problem related to the placenta. “There isn’t much we can do about genetic mutations yet, but we can work on the maternal-fetal conflict,” Wigler says. “If we could control that process better, we could have healthier babies and reduce autism risk.”

Written by: Lina Zeldovich, Science Writer | | 516-367-8455


Publicado en AUTISMO, DIVULGACIÓN | Deja un comentario

Luz Raquel Padilla

Luz Raquel Padilla: la madre de un niño autista que fue quemada viva tras denunciar amenazas en México

  • Marcos González Díaz
  • Corresponsal de BBC News Mundo en México

22 julio 2022

Luz Raquel Padilla.
Pie de foto,Luz Raquel Padilla murió este martes después de que la rociaran con alcohol y prendieran fuego el pasado sábado.

«Ella se dedicaba por completo a cuidar a su hijo. Era su vida estar al lado de su hijo. Era muy alegre, con esa chispa que te hacía reír con sus ocurrencias. Muy buena amiga y buena madre comprometida».

Así recuerda Mily Cruz Díaz, coordinadora en Jalisco del colectivo Yo Cuido México, a Luz Raquel Padilla, brutalmente asesinada por un grupo de personas que la rociaron con alcohol y prendieron fuego en un parque de Zapopan, México.

La joven pertenecía a esta asociación -que aglutina a otras cuidadoras de personas dependientes- como madre de un niño con autismo en el que se enfocaba prácticamente las 24 horas.

Su asesinato provocó un gran impacto e indignación en México no solo por su brutalidad, sino por el hecho de que previamente ya había denunciado ante la policía y en sus propias redes sociales numerosas amenazas de muerte y agresiones por parte de vecinos de su edificio.

Pero, una vez más, ponerlo en conocimiento de las autoridades no evitó el ataque sufrido el sábado 16 de julio y que el martes 19, tras tres días de agonía con casi el 90% de su cuerpo quemado, acabara falleciendo.

Publicado en AUTISMO, DIVULGACIÓN | Deja un comentario


autism friendly environment 2

Over the past few years, more and more people have asked themselves how they can create an autism-friendly environment. Architects have written about designing autism-friendly buildings and families have remodelled rooms to provide positive sensory experiences.

It is clear from listening to people who have an autistic spectrum condition that they can experience the world very differently to others. This can be both debilitating and empowering. In creating an autism-friendly environment we must try to reduce the negative effects of sensory differences and enhance the positive effects.

Every individual on the autism spectrum will experience the world differently from a sensory point of view; therefore, the points below are very generic and, where possible, attention needs to be paid to each individual’s preferences.

Questions we need to ask ourselves


Before we begin to remodel a room or design a building there are some questions we should be asking ourselves to help inform how we will go about making changes that will be positive for individuals with autism. Many of these questions entail assessing the existing environment and taking into account the seven sense indicators, as well as being attentive to the people who will be using the environment.

It is important when considering the questions relating to the senses to remember that people with autism can be either hypersensitive (receive too much sensory information) or hyposensitive (receive too little sensory information). They can also be both hypersensitive or hyposensitive, requiring less stimulus at times and more at others.

The questions we should ask ourselves when trying to create an autism-friendly environment deal with –

  1. Visual sense (Sight)
  2. Auditory sense (Hearing)
  3. Touch and pressure sense
  4. Olfactory sense (Smell)
  5. Taste sense
  6. Vestibular sense(Balance)
  7. Proprioceptive sense (Space)
  8. Who will use the space?
  9. What the space will be used for?

Questions dealing with visual input

  • What is the lighting like in the rooms, both natural and artificial?
  • What colour are the walls?
  • How many things are in the room that would require visual awareness/recognition?
  • Are curtains, carpets and furnishings patterned?

Lighting plays a large part in the sensory experiences of many autistic people. We now know that fluorescent lights can be distracting to the point of debilitating for some people because they can see the lights flickering at 60 flashes per second (60Hz). Some fluorescent lights have a flicker rate of 120 Hz.

Natural lighting also plays a part, especially with sleeping patterns. One reason is that melatonin (a hormone which helps to regulate sleep/wake patterns). Usually melatonin rises during darkness and dips during daylight hours. If people with autism are experiencing sleep problems, one of the many strategies to try is to ensure that there is darkness during times of sleep.

Paying attention to colour is also important. Different colours have different effects on us. As an example, the colour red has the longest wave length and, therefore, can stimulate us and raise our pulse rate. Yellow also has a long wavelength and can stimulate. Light blues can calm the mind and aid concentration. Green can be restful. Think about the room you are designing – are you trying to create a stimulating environment or a calming one?

How cluttered or minimalist rooms are should also be taken into consideration. Many autistic people are particularly observant of every detail and can become overwhelmed by too much visual information to process. Others need more visual stimulation.

Patterned fabrics can be particularly distressing to some individuals with an autistic spectrum condition. Patterns can be distracting and overwhelming and can even cause visual distortion.

Questions dealing with auditory input

  • Are there regular external sounds, such as traffic, children playing or building works?
  • Are there regular internal sounds, such as clocks ticking, refrigerators humming, music?
  • Is it possible to reduce external sounds from permeating to the inside?
  • Is there a way of reducing sounds for each individual, such as earplugs?

Many people with autism tell us that they can hear sounds at many decibels above those others can hear. They can hear sounds that are a lot further away and the intensity of sounds can be deafening. They can be listening to rock music on high volume and still hear a conversation in the room next door.

Questions dealing with touch and pressure

  • Is there an area that provides for different textures to be felt or stroked?
  • Are there items to provide different feelings on the skin, such as sand or water?
  • Are there items to provide pressure if needed, such as wooden massagers?

Some autistic people shun touch unless they are in control of it. Others need extra pressure to feel calm and safe and benefit from items such as weighted blankets if used appropriately. Some people need extra stimulation to feel, if they are particularly hyposensitive (filter out too much sensory information as opposed to too little).

Questions dealing with the sense of smell (Olfactory)

  • Are there any smells outside of the room or building that permeate through the walls, windows or doors?
  • Are there any smells from indoors that can cause distress, such as cleaning products, perfumed products or foods?

Some people with autism find smells so overwhelming that they cause extreme nausea. Some will even smell the product long after it has been removed from the room or cupboard.

Questions dealing with taste

In creating an environment where the sense of taste will be used, such as dining rooms, it is worth remembering that sometimes we can assume a distaste for a flavour when the distaste could be something else. It is possible that distaste can come from a discomfort from the texture of the food, or the appearance of the food. Questions to ask would be –

  • Have we created an environment where choice is available and clear to see?
  • Are choices of foods shown pictorially as well as in words?

Questions dealing with balance (vestibular) and space (proprioceptive)

  • Are there opportunities for swinging?
  • Are there opportunities to balance on beams or boards?
  • Are there opportunities to bounce or climb?
  • Are there opportunities for a person to sit with their backs against the wall?
  • Are there opportunities to sit where a person can see the whole room?
  • Are there quick exit routes?

Some autistic people find it difficult to have a sense of themselves in relation to the physical world around them. Rocking, swinging and balancing can help them gain a sense of self. Having too much room in front of them or behind them can cause anxiety if they need to have something directly behind them or in front of them to gain a sense of themselves. In addition, some people with autism experience anxiety if they cannot see what is happening or where sounds are coming from and they find this very disorientating.

Many people with autism need space around them and feel overwhelmed by crowds or clutter. They can feel hemmed in by corridors and need to know there is a quick escape route.

Who will use the space?

This might seem an obvious question to ask; however, it is important to think the answer through. The environment might need to be different for children or adults. You might also need to consider whether the same environment will be used by others who might have sensory differences, or by a group with very differing sensory needs. If there is a risk of sensory overload; is there somewhere else a person can go to escape from the overload?

What will the space be used for?

Some spaces are used for large groups of people, such as school halls or open-plan offices. Other spaces are for single use or small groups. Yet, other spaces are intended for transition, eg corridors or lifts.

Transition spaces can be difficult for people on the autism spectrum, because it can sometimes be difficult to move from one space to another or one activity to another.

Therefore, consideration needs to be made as to how to make transition spaces easier to deal with. Some questions you can ask are –

  • Can there be a natural flow from one space to another without using a corridor? Are there less claustrophobic ways to go up or down a building than the use of lifts?
  • If spaces are being used for large numbers of people, are there smaller spaces available for retreat if necessary?
  • If spaces are small and intimate, are there opportunities to go easily to a more open space?
  • Can you create a map of where individuals with autism seem to become most anxious? Are there alternative routes?


There are architects who specialise in designing buildings that are autism-friendly such as Maria Luigia Assirelli Dott. Arch (Rome) ARB, partner in GA Architects and Magda Mostafa, associate professor in the Department of Construction and Architebtural Engineering in Egypt. However, we can all play a part in providing an autism-friendly environment by taking into consideration sensory differences and the need for structure.

Although every individual on the autistic spectrum will have their own environmental needs, there are some general questions we can ask ourselves to create a physical environment that will reduce anxieties as opposed to increasing them. We need to pay attention to all seven of the senses – visual, auditory, olfactory, taste, touch, vestibular and proprioceptive. We also need to pay attention to space and how it is used.

Addressing everyone’s personal preferences will always be difficult; however, some thought and consideration can make all the difference to some.

by Manar Matusiak FROM

Publicado en AUTISMO, DIVULGACIÓN | 3 comentarios




Publicado en autismo | 2 comentarios


Una de las actividades más relajantes para un autista es pasear, sin embargo a pesar de ser una actividad ludica sencilla no esta exenta de cietas medidas de precaución.

Lo primero es proveerse de una bolsa o mochila y al menos llevar agua, algo de comer que le guste y pequeñas ayudas como pañuelos, quiza algún objeto que le calme en una situación de más escitación y poco más.

Planificar un poco el itinenario es aconsejable, que tenga sitios de parada por ejemplo un banco para sentarse a la sombra si hace sol o sitios donde guarecerse si hay riesgo de lluvia.

Es ideal que desde el principio se creen cierta complicidad, por ejemplo, caminar juntos pero no de la mano, solo se da la mano cuando se va a cruzar una calle o cuando es necesario. Se debe caminar en paralelo anque si no es posible de puede combinar con uno delante y otro atras.

Cuidado con los peligros en las calles de la ciudad, respetar los semaforos para que se acostumbre a su significado de luces y sonidos.

Evitar sitios ruidosos o con mucha gente, si fuera así hay que buscar otro sitio por donde pasear.

Conviene repetir itinerarios pero que no sean unicos, combinarlos, variarlos, de modo que siendo conocidos no siempre se hace lo mismo, pero que incorporen un serie de paradas y constumbres como puede ser sentarse en una zona, tomar alli una fruta, etc.

No es adecuado que el trayecto sea muy largo e ir avanzando poco a poco.

También es adecuado tener un parque o zona de naturaleza para salir de la ciudad, hay determinados sitios que son de especial atractivo como cascadas, fuentes de agua, etc.

Publicado en AUTISMO, DIVULGACIÓN | 8 comentarios


Diagnosis in Young Children

Diagnosis in young children is often a two-stage process.

Stage 1: General Developmental Screening During Well-Child Checkups

Every child should receive well-child check-ups with a pediatrician or an early childhood health care provider. The American Academy of Pediatrics recommends that all children receive screening for developmental delays at their 9-, 18-, and 24- or 30-month well-child visits, with specific autism screenings at their 18- and 24-month well-child visits. A child may receive additional screening if they are at high risk for ASD or developmental problems. Children at high risk include those who have a family member with ASD, show some behaviors that are typical of ASD, have older parents, have certain genetic conditions, or who had a very low birth weight.

Considering caregivers’ experiences and concerns is an important part of the screening process for young children. The health care provider may ask questions about the child’s behaviors and evaluate those answers in combination with information from ASD screening tools and clinical observations of the child. Read more about screening instruments on the Centers for Disease Control and Prevention (CDC) website.

If a child shows developmental differences in behavior or functioning during this screening process, the health care provider may refer the child for additional evaluation.

Stage 2: Additional Diagnostic Evaluation

It is important to accurately detect and diagnose children with ASD as early as possible, as this will shed light on their unique strengths and challenges. Early detection also can help caregivers determine which services, educational programs, and behavioral therapies are most likely to be helpful for their child.

A team of health care providers who have experience diagnosing ASD will conduct the diagnostic evaluation. This team may include child neurologists, developmental pediatricians, speech-language pathologists, child psychologists and psychiatrists, educational specialists, and occupational therapists.

The diagnostic evaluation is likely to include:

  • Medical and neurological examinations
  • Assessment of the child’s cognitive abilities
  • Assessment of the child’s language abilities
  • Observation of the child’s behavior
  • An in-depth conversation with the child’s caregivers about the child’s behavior and development
  • Assessment of age-appropriate skills needed to complete daily activities independently, such as eating, dressing, and toileting

Because ASD is a complex disorder that sometimes occurs with other illnesses or learning disorders, the comprehensive evaluation may include:

  • Blood tests
  • Hearing test

The outcome of the evaluation may result in a formal diagnosis and recommendations for treatment.

Diagnosis in older children and adolescents

Caregivers and teachers are often the first to recognize ASD symptoms in older children and adolescents who attend school. The school’s special education team may perform an initial evaluation and then recommend that a child undergo additional evaluation with their primary health care provider or a health care provider who specialize in ASD.

A child’s caregivers may talk with these health care providers about their child’s social difficulties, including problems with subtle communication. These subtle communication differences may include problems understanding tone of voice, facial expressions, or body language. Older children and adolescents may have trouble understanding figures of speech, humor, or sarcasm. They also may have trouble forming friendships with peers.

Diagnosis in adults

Diagnosing ASD in adults is often more difficult than diagnosing ASD in children. In adults, some ASD symptoms can overlap with symptoms of other mental health disorders, such as anxiety disorder or attention-deficit/hyperactivity disorder (ADHD).

Adults who notice the signs and symptoms of ASD should talk with a health care provider and ask for a referral for an ASD evaluation. Although evaluation for ASD in adults is still being refined, adults can be referred to a neuropsychologist, psychologist, or psychiatrist who has experience with ASD. The expert will ask about:

  • Social interaction and communication challenges
  • Sensory issues
  • Repetitive behaviors
  • Restricted interests

The evaluation also may include a conversation with caregivers or other family members to learn about the person’s early developmental history, which can help ensure an accurate diagnosis.

Obtaining a correct diagnosis of ASD as an adult can help a person understand past challenges, identify personal strengths, and find the right kind of help. Studies are underway to determine the types of services and supports that are most helpful for improving the functioning and community integration of autistic transition-age youth and adults.

Publicado en AUTISMO, DIVULGACIÓN | 4 comentarios



Datos y cifras

  • El autismo –denominado también trastorno del espectro autista– constituye un grupo de afecciones diversas relacionadas con el desarrollo del cerebro.
  • Las características pueden detectarse en la primera infancia, pero, a menudo, el autismo no se diagnostica hasta mucho más tarde.
  • Aproximadamente uno de cada 100 niños tiene autismo.
  • Las capacidades y las necesidades de las personas con autismo varían y pueden evolucionar con el tiempo. Aunque algunas personas con autismo pueden vivir de manera independiente, hay otras con discapacidades graves que necesitan constante atención y apoyo durante toda su vida.
  • Las intervenciones psicosociales basadas en evidencias pueden mejorar las aptitudes sociales y para la comunicación, y tener un impacto positivo en el bienestar y la calidad de vida de las personas con autismo y de sus cuidadores.
  • La atención a las personas con autismo debe ir acompañada de medidas en el ámbito comunitario y social para lograr mayor accesibilidad, inclusividad y apoyo.


Los trastornos del espectro autista (TEA) son un grupo de afecciones diversas. Se caracterizan por algún grado de dificultad en la interacción social y la comunicación. Otras características que presentan son patrones atípicos de actividad y comportamiento; por ejemplo, dificultad para pasar de una actividad a otra, gran atención a los detalles y reacciones poco habituales a las sensaciones.

Las capacidades y las necesidades de las personas con autismo varían y pueden evolucionar con el tiempo. Aunque algunas personas con autismo pueden vivir de manera independiente, hay otras con discapacidades graves que necesitan constante atención y apoyo durante toda su vida. El autismo suele influir en la educación y las oportunidades de empleo. Además, impone exigencias considerables a las familias que prestan atención y apoyo. Las actitudes sociales y el nivel de apoyo prestado por las autoridades locales y nacionales son factores importantes que determinan la calidad de vida de las personas con autismo.

Las características del autismo pueden detectarse en la primera infancia, pero, a menudo, el autismo no se diagnostica hasta mucho más tarde.

Las personas con autismo presentan a menudo afecciones comórbidas, como epilepsia, depresión, ansiedad y trastorno de déficit de atención e hiperactividad, y comportamientos problemáticos, como dificultad para dormir y autolesiones. El nivel intelectual varía mucho de un caso a otro, y va desde un deterioro profundo hasta casos con aptitudes cognitivas altas.


Se calcula que, en todo el mundo, uno de cada 100 niños tiene autismo(1). Esta estimación representa una cifra media, pues la prevalencia observada varía considerablemente entre los distintos estudios. No obstante, en algunos estudios bien controlados se han registrado cifras notablemente mayores. La prevalencia del autismo en muchos países de ingresos bajos y medianos es hasta ahora desconocida.


La evidencia científica disponible indica la existencia de múltiples factores, entre ellos los genéticos y ambientales, que hacen más probable que un niño pueda tener autismo.

Los datos epidemiológicos disponibles demuestran de forma concluyente que no hay pruebas de una relación causal entre el autismo y la vacuna contra el sarampión, la parotiditis y la rubéola. Los estudios anteriores que señalaban una relación causal estaban plagados de errores metodológicos (2)(3).

Tampoco hay prueba alguna de que otras vacunas infantiles puedan aumentar el riesgo de autismo. Los exámenes de los datos sobre una posible asociación entre el riesgo de autismo y la presencia en las vacunas inactivadas del conservante tiomersal o de adyuvantes con aluminio han concluido firmemente que las vacunas no incrementan dicho riesgo.

Evaluación y atención

Desde la primera infancia y durante toda la vida, una amplia gama de intervenciones pueden optimizar el desarrollo, la salud, el bienestar y la calidad de vida de las personas con autismo. El acceso oportuno a intervenciones psicosociales tempranas basadas en las evidencias puede mejorar la capacidad de los niños con autismo para comunicarse eficazmente e interactuar socialmente. Se recomienda incluir el seguimiento del desarrollo infantil en la atención sistemática a la salud de la madre y el niño.

Una vez diagnosticado el autismo, es importante que se les ofrezca al niño o adolescente con autismo y a su familia información y servicios pertinentes, derivación a especialistas y ayudas prácticas de acuerdo con sus necesidades y preferencias y con la evolución de estas.

Las necesidades de atención de salud de las personas con autismo son complejas y requieren una serie de servicios integrados, que abarcan la promoción de la salud, la atención y la rehabilitación. Es importante la colaboración entre el sector de la salud y otros sectores, en particular los relacionados con la educación, el empleo y la asistencia social.

Las intervenciones dirigidas a las personas con autismo y otras discapacidades del desarrollo deben diseñarse y realizarse con la participación de personas que presenten esos trastornos. La atención debe ir acompañada de medidas en el ámbito comunitario y social para lograr mayor accesibilidad, inclusividad y apoyo.

Derechos humanos

Todas las personas, incluidas las que padecen autismo, tienen derecho al disfrute del más alto nivel posible de salud física y mental.

Sin embargo, las personas con autismo a menudo son objeto de estigmatización y discriminación, que incluye la privación injusta de atención de salud, educación y oportunidades para participar en sus comunidades.

Las personas con autismo tienen los mismos problemas de salud que el resto de la población, pero pueden tener además otras necesidades asistenciales especiales relacionadas con el autismo u otras afecciones comórbidas. Pueden ser más vulnerables a padecer enfermedades no trasmisibles crónicas debido a factores de riesgo como inactividad física o malas preferencias dietéticas, y corren mayor riesgo de sufrir violencia, lesiones y abusos.

Al igual que el resto de los individuos, las personas con autismo necesitan servicios de salud accesibles para sus necesidades de atención de salud generales, en particular servicios de promoción, prevención y tratamiento de enfermedades agudas y crónicas. Sin embargo, en comparación con el resto de la población, las personas con autismo tienen más necesidades de atención de salud desatendidas y son también más vulnerables en caso de emergencia humanitaria. Un obstáculo frecuente radica en los conocimientos insuficientes y las ideas equivocadas que tienen los proveedores de atención de salud sobre el autismo.

Resolución de la OMS sobre los trastornos del espectro autista

En mayo de 2014, la 67.ª Asamblea Mundial de la Salud adoptó la resolución titulada Medidas integrales y coordinadas para gestionar los trastornos del espectro autista, que contó con el apoyo de más de 60 países.

En la resolución se insta a la OMS a colaborar con los Estados Miembros y organismos asociados en el fortalecimiento de las capacidades nacionales para abordar los TEA y otros problemas del desarrollo.

Respuesta de la OMS

La OMS y sus asociados reconocen la necesidad de fortalecer la capacidad de los países para promover una salud y un bienestar óptimos para todas las personas con autismo.

Los esfuerzos de la OMS se centran en:

  • aumentar el compromiso de los gobiernos con la adopción de medidas que mejoren la calidad de vida de las personas con autismo;
  • proporcionar orientación sobre políticas y planes de acción que aborden el autismo en el marco más general de la salud, la salud mental y cerebral y las discapacidades;
  • contribuir a fortalecer la capacidad del personal de salud para proporcionar una atención adecuada y eficaz a las personas con autismo y promover normas óptimas para su salud y bienestar; y
  • fomentar los entornos inclusivos y favorables para las personas con autismo y otras discapacidades del desarrollo y prestar apoyo a sus cuidadores.

En el Plan de Acción Integral de la OMS sobre Salud Mental 2013–2030 y la resolución WHA73.10 de la Asamblea Mundial de la Salud sobre «Medidas mundiales contra la epilepsia y otros trastornos neurológicos» se hace un llamamiento a los países para que aborden las considerables deficiencias actuales en la detección temprana, atención, tratamiento y rehabilitación para los trastornos mentales y las alteraciones del desarrollo neurológico, entre los que se incluye el autismo. En la resolución se insta asimismo a los países a que aborden las necesidades sociales, económicas, educativas y en materia de inclusión, de las personas con trastornos mentales y otros trastornos neurológicos, así como de sus familias, y a que mejoren la vigilancia y la investigación pertinentes. 

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La Dirección General de la Policía firma un protocolo de actuación para eliminar las barreras para las personas con autismo

  • Con la Confederación Autismo España y la Asociación a favor de Personas con Discapacidad de la Policía Nacional
  • Las tres instituciones se comprometen a diseñar apoyos para favorecer el acceso a la justicia de las personas con trastorno del espectro del autismo
  • Está prevista la realización de actividades formativas conjuntas, la edición de materiales informativos y el diseño de apoyos que permitan un acceso más fácil a los servicios policiales

El director general de la Policía, Francisco Pardo Piqueras, el director general de Confederación Autismo España, Jesús Miguel García Lorente, y la presidenta de la Asociación a Favor de Personas con Discapacidad de la Policía Nacional, María Jesús Llorente Vega, han suscrito un Protocolo General de Actuación que tiene como objetivo la eliminación de barreras para las personas con trastorno del espectro del autismo.

La iniciativa de crear un marco de colaboración a favor de las personas con trastorno del espectro del autismo surgió a instancias de la Unidad de Atención a la Familia y Mujer (UFAM) de la Comisaría General de la Policía Judicial, que viene trabajando con población vulnerable en materia de accesibilidad universal para evitar la doble victimización.

Uno de los principales objetivos de la colaboración es conocer cuáles son las dificultades o las barreras a las que hacen frente las personas con trastorno del espectro del autismo en sus relaciones con la Policía Nacional y cómo pueden salvarse.

Para ello está prevista la realización de actividades formativas conjuntas, la edición de materiales informativos y el diseño de apoyos que permitan un acceso más fácil a los servicios policiales,especialmente cuando las personas con trastorno del espectro del autismo son víctimas.

La Confederación Autismo España y la Asociación a Favor de Personas con Discapacidad de la Policía Nacional aportarán sus conocimientos y experiencia para llevar a buen puerto esta colaboración.

Publicado en AUTISMO, DIVULGACIÓN | 10 comentarios

CR7 y un chico Asperger

La «agresión» a un chico con asperger que pone la guinda al peor año de Cristiano Ronaldo


El manotazo mientras abandonaba el terreno de juego está siendo investigado por las autoridades de Reino Unido. El jugador y su equipo se encuentran en el ojo del huracán de las críticas.

El jugador pagó su impotencia durante el último partido con un chaval de 14 años.
El jugador pagó su impotencia durante el último partido con un chaval de 14 años.

Con gesto dolorido, cabizbajo y apoyándose en un compañero, Cristiano Ronaldo (37) se dirigía hacia el túnel de vestuarios del Goodinson Park después de que su equipo, el Manchester United, perdiera 1-0 contra el Everton.

Como ocurre al final de los encuentros un grupo de aficionados móvil intentaba sacar fotos y vídeos de sus ídolos con el móvil. Entre ellos, un chaval de 14 años con capacidades especiales llamado Jake Harding al que Cristiano Ronaldo golpeó con fuerza en la mano con la que sujetaba el teléfono antes de entrar en el túnel de vestuarios.

Un gesto de impotencia de CR7 que evidencia como el portugués atraviesa lo que él mismo ha calificado de «momentos difíciles» marcados por las lesiones, un bajo rendimiento deportivo y malos resultados para su equipo. Una tesitura que contrasta con la felicidad y las altísimas cuotas de fama que su esposa, Georgina (28) está alcanzando. A ella le va mejor que nunca. A él, todo lo contrario.PUBLICIDAD

El incidente protagonizado por Cristiano Ronaldo fue respondido de forma inmediata por un sonoro abucheo de los aficionados que presenciaron el manotazo del luso. Un clamor que en cuestión de minutos saltó a las redes sociales y a las tertulias deportivas de todo el mundo señalando que responde al comportamiento «prepotente» que se achaca al jugador desde sus tiempos en el Real Madrid.

La que hubiera sido una experiencia desagradable para cualquier chaval, se ha convertido en un suceso aún más complicado para el joven Harding. Unos hechos que su madre no ha dudado en tildar de «agresión«.

Un calificativo con el que también coinciden las autoridades británicas, que han lanzado una investigación sobre el incidente que se saldó con la mano amoratada de Jake y con la pantalla de su teléfono móvil destrozada, según mostró su progenitora.

Asimismo, la madre ha explicado que el muchacho se encuentra muy afectado porque padece de dispraxia -un desorden que afecta a la coordinación- y autismo, una patología que «hace que no pueda digerir las cosas de la misma manera que alguien sin discapacidad».

Además, para desgracia del chaval, se trataba del primer partido al que acudía y esto ha provocado que le coja miedo a los campos de fútbol.PUBLICIDAD

Minutos después del incidente Cristiano Ronaldo intentó aplacar la avalancha de críticas en redes sociales publicando una disculpa acompañada de una foto en Instagram.

«Nunca ha sido sencillo lidiar con emociones en momentos difíciles como el que estamos viviendo. De todos modos, siempre debemos ser respetuosos, pacientes y ejemplares hacia los jóvenes que aman este precioso juego.

Me gustaría pedir disculpas por mi arrebato y, si es posible, invitar a este aficionado a ver un partido en Old Trafford [el estadio del Manchester United] como muestra de juego limpio y deportividad», rezaba el post en la red social del jugador.

Unas disculpas que no han resultado suficientes ni para la madre del chico, ni para Scotland Yard, ni para Save The Children, una entidad sin ánimo de lucro de la que el futbolista era embajador y que ha querido apartar al portugués de su lado tras el incidente, según publica la prensa británica.

Mientras tanto, la familia del muchacho ha rechazado las disculpas públicas del jugador a través de su cuenta de Instagram. «Es un niño autista que ha sido agredido por un jugador de fútbol profesional. Esta es mi perspectiva de madre», ha asegurado. Asimismo ha declinado la oferta de acudir a ver un partido del Manchester United. «Si alguien le pegase por la calle y luego nos invitase a cenar no iríamos. ¿Pero si se trata de Cristiano Ronaldo tenemos que ir? Suena a como si le debiéramos un favor. Mi hijo ha dejado muy claro que no quiere ir, ni ver a Ronaldo«.

Una polémica por la que la mujer ha confesado además sentirse acosada a través de las redes sociales por los fans del Manchester United, que habrían cerrado filas con Cristiano Ronaldo.

El propio CR7 es padre 4 hijos -el mayor, uno nacido del vientre de Georgina y dos de ellos por gestación subrogada según la prensa británica- a los que muestra en fotos publicadas a través de redes sociales y a los que defiende de forma ferviente ante los comentarios de prensa y aficionados.

En su disculpa por el incidente, Cristiano reconocía estar viviendo «momentos difíciles». Algo que es objetivamente cierto. El 2022 está resultando ser un año nefasto en lo deportivo para el portugués tanto a nivel individual como colectivo con el conjunto de los Red Devils de Manchester.

En lo que va de año, ha acumulado cuatro bajas deportivas. Una de ellas correspondiente a una enfermedad que le apartó seis días de su actividad profesional y otras tres correspondientes a lesiones: en la ingle, en la cadera y una última en la espinilla durante el partido contra el Everton en el que se produjo el incidente. Una cantidad de bajas médicas sin paragón para el portugués en un periodo de tan solo cuatro meses.

Asimismo, se trata de la primera temporada en 10 años en la que Cristiano Ronaldo no ganará ningún título. Su actual equipo, el Manchester United, está teniendo un lamentable desempeño durante los últimos meses.

Fue eliminado por el Atlético de Madrid en Champions, solo ha ganado uno de los últimos cinco partidos en la liga inglesa y actualmente se encuentra séptimo en la clasificación, fuera de puestos de Champions y de Europa League. Una posición a la que Cristiano no está acostumbrado.

A falta de un milagro para colarse en puestos de Champions, algo matemáticamente posible pero improbable en vista del rendimiento del equipo, la situación obligaría a Cristiano Ronaldo a tener que buscarse un nuevo conjunto al acabar la temporada si quiere jugar el año que viene al máximo nivel competitivo en la Champions League.


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Cuando una familia convive con el autismo: «La discapacidad da igual, tu hijo es maravilloso como es»

Mario Díaz y Ana Blanco, director adjunto y jefa de diseño de EL ESPAÑOL, conversan con ENCLAVE ODS sobre cómo el trastorno que sufre su hijo ha cambiado sus vidas. 

Cuando eres padre, tan solo tres letras pueden cambiarte la vida. El trastorno del espectro austista (TEA) es una alteración neurobiólogica que afecta al desarrollo, en distintos niveles, de quien lo padece provocando principalmente problemas o dificultades en la interacción social. 

Con motivo del Día Mundial de la Concienciación sobre el Autismo, Mario Díaz y Ana Blanco, director adjunto y jefa de diseño de EL ESPAÑOL, conversan con ENCLAVE ODS sobre cómo ha cambiado su vida desde que se dieron cuenta de que su hijo tenía autismo y cómo conviven con esta situación.

Pregunta: ¿En qué momento os disteis cuenta de que vuestro hijo tenía autismo?

Ana Blanco: Empezó a los ocho meses, más o menos, cuando yo empecé a darme cuenta de que mi hijo no reaccionaba con otros bebés y no hacía las cosas que hacían los otros. A los ocho meses empecé a sospechar.

El tema es que estuvimos dando vueltas, yo al principio ni siquiera lo compartí con Mario y empecé a averiguar mucho. La alerta máxima fue cuando en la guardería también nos lo dijeron y esto fue a los 17 meses. Básicamente, no respondía a su nombre y no señalaba. Fue entonces cuando nos dimos cuenta de que algo pasaba. 

La experiencia de Mario y Ana, padres de un hijo autista

Mario Díaz: Ahí es muy curioso como funcionan la paternidad y la maternidad de forma distinta. Porque sí es verdad que Ana se dio cuenta o tuvo sospechas con 8 meses.

Sin embargo, como padre, vives un poco más alejado del bebé porque no tienes ese contacto tan íntimo con él. Sí es verdad que podría haber apreciado más detalles o podría haberme dado cuenta de otras cosas, pero es cierto que lo ves desde otra distancia.

Entonces, cuando empecé a darme cuenta de que Ana llevaba meses sospechando de la situación y, bueno, la verdad es que es una de esas situaciones que te pueden llegar a frustrar realmente en estas circunstancias.

Porque te das cuenta de que no has observado correctamente a tu hijo, que es algo que luego con el tiempo evoluciona precisamente a todo lo contrario.

Evoluciona a una sobreobservación y una sobreprotección de la criatura porque estás tan encima de él, tan encima de cada de cada estímulo, tan encima de cada reacción, que pasas del blanco al negro muy rápidamente. 

¿Cuál es el siguiente paso una vez que os dais cuenta de que ocurre algo?

A.B.: Es un viaje largo. Primero empiezas yendo al médico de cabecera a contar las sospechas. Ahí te derivan al neuropediatra, que es el que lo observa y más o menos te lo confirma. A nosotros directamente el pediatra nos lo confirmó sin necesidad de psicólogo. Y luego te mandan al psicólogo porque es este especialista el que da el diagnóstico final.Mario Díaz y Ana Blanco

Mario Díaz y Ana Blanco Javier Carvajal

Miedo y desconocimiento

Les preguntamos cómo viven ellos, como padres, esta situación. Blanco explica que fue un momento complicado y de mucho miedo por el desconocimiento. “No sabía prácticamente nada del autismo hasta que empecé a sospechar”. 

La reacción de Díaz fue algo diferente. Recuerda que le costó mucho aceptar la situación: “El hecho de aceptar en cierta medida que tu vida no va a ser como todo el sistema te ha dicho que va a ser y como tú te has preconfigurado en tu cabeza es un shock muy fuerte”

Para preparase para, precisamente, este cambio, esta nueva situación, Díaz y Blanco se han apoyado en otros padres que han pasado previamente por esto y les han ayudado con su experiencia. 

Además, Díaz incide en que el sistema no está preparado para atender a personas como su hijo. “El sistema entiende a mi hijo como un fallo del sistema. Y no es el hecho de que le puedan tratar mal.

Es que el sistema no está preparado para dedicar una atención especial y especializada a niños con autismo, con Down o con cualquier otro tipo de discapacidad. No está preparando sanitariamente, no está preparado educativamente, no está preparado prácticamente a ningún nivel”. 

Problemas de interacción social

Todos los niños con TEA son distintos, hay una amplísima variedad y una amplísima variedad de síntomas. De hecho, el término espectro dentro del trastorno autista hace referencia a un gran abanico de síntomas y gravedad. 

El principal síntoma de las personas con autismo tiene que ver con la interacción social. Suelen tener problemas de comunicación y sus interacciones sociales son diferentes.

«Mi hijo puede relacionarse, pero solo lo hace cuando él quiere»

Mario Díaz, director adjunto de ‘EL ESPAÑOL’

Blanco explica que, por ejemplo, los niños con TEA no son capaces de imitar cuando son pequeños, por lo que hay que enseñarles a jugar. Aunque apunta que cuando son más grandes se nota más. “Los compañeros tienen que entender todas estas dificultades que tiene y ayudarle”. Además, señala que los sitios en los que hay mucha gente pueden ser para ellos un desafío enorme. 

Hay personas con TEA que son incapaces de relacionarse e incluso de hablar. Aunque este no es el caso del hijo de Díaz y Blanco.  “Mi hijo puede relacionarse, pero solo lo hace cuando él quiere”, indica el padre, que añade que estas interacciones suelen responder a intereses concretos del menor. 

Distintas percepciones

Las personas con autismo pueden tener problemas con cada uno de los sentidos. Se tiende a pensar que estas personas tienen problemas con sonidos fuertes, pero Díaz aclara que pueden sentir molestias por el ruido, pero también por su ausencia. 

En este sentido, Blanco pone el ejemplo de los centros comerciales. “Son lugares muy ruidosos donde se pueden sentir muy agobiados. Para ellos puede ser realmente insoportable estar ahí porque perciben todos los sonidos con el mismo volumen”. 

El caso del tacto es curioso. Hay casos en los que la ropa puede molestarles por el roce y otros en los que necesitan sentir la ropa, por lo que visten prendas muy ajustadas. 

Además, subrayan la importancia del gusto, pues este deriva a la comida y a los problemas de alimentación. Por ello, es muy importante tenerlo en cuenta para identificarlo y poder prevenir problemas nutricionales. 

Un hijo maravilloso

Pregunta: ¿Qué es lo más importante que habéis aprendido como padres?

M.D.: Que la discapacidad da igual, tu hijo es maravilloso como es. 

A.B.: Yo, sobre todo, que todos somos diferentes. La verdad es que ahora juzgo mucho menos a la gente en general, porque somos distintos todos y hay que apreciar lo bueno de cada uno. 

¿Qué mensaje le daríais a unos padres que acaban de confirmar o estén en el proceso de confirmar que su hijo tiene autismo?

M.D.: Yo creo que hay que lanzar un mensaje de esperanza. Quiero decir, esto no es una maldición, no son las plagas de Egipto, no es nada por el estilo. Como te he dicho, nuestro hijo es maravilloso como es.

¿Tiene problemas? Por supuesto, todos tenemos problemas. Discapacitados o no, todos tenemos problemas. ¿La vida va a ser un poquito más difícil? Seguro. Prácticamente, como te decía, a todos los niveles, va a ser un poquito más difícil. ¿Vas a poder ser feliz? Sin ningún género de duda. Absolutamente.

O sea, que tu hijo sea autista no te va a impedir que tú seas feliz, ni va a impedir que tu hijo sea feliz. Es cuestión de encontrar un punto de equilibrio en esa nueva situación. Fácil no va a ser, pero lo vas a encontrar. 


Publicado en AUTISMO, DIVULGACIÓN | 9 comentarios


Publicado en AUTISMO, DIVULGACIÓN | 10 comentarios


Publicado en AUTISMO, DIVULGACIÓN | 9 comentarios



Publicado en AUTISMO, DIVULGACIÓN | 9 comentarios



Campaña 2022

"Un feliz viaje por la vida", campaña de Autismo Europa y Autismo España por el Día Mundial de Concienciación sobre el Autismo 2022

Bajo el lema «Un feliz viaje por la vida» queremos hacer comprender a la ciudadanía el derecho de las personas con trastorno del espectro del autismo (TEA) y sus familias a vivir una vida feliz.

Para garantizar su calidad de vida, las personas con TEA, especialmente aquellas con más necesidades de apoyo, necesitan acceder a una serie de servicios individualizados, específicos y especializados que deben ir adaptándose en función de la etapa del desarrollo en la que se encuentren, así como de las experiencias que hayan ido adquiriendo a lo largo de su vida.

Además, debemos tener en cuenta que el TEA no impacta solo en quien lo presenta, sino también en su familia. Siendo la familia la fuente de apoyo principal para las personas con autismo, es indispensable también atender sus necesidades, contribuyendo así a garantizar su bienestar emocional y su calidad de vida.

World Autism Awareness Day (WAAD) aims to put a spotlight on the hurdles that people with autism and others living with autism face every day. As a growing global health issue owing to its increasing exposure in the press and common knowledge, autism is an issue that is only gaining more understanding and WAAD activities are planned every year to further increase and develop world knowledge of children and adults who have autism spectrum disorder (ASD).

What’s more, World Autism Awareness Day goes one step further to celebrate the unique talents of those with autism, while putting a huge focus on the warm embrace and welcome that these skills deserve through community events around the globe.

Publicado en AUTISMO, DEFINICIONES | 250 comentarios

Insight into the genetics of autism offers hope for new drug treatments


Drugs to increase insulin signaling may be effective for treating autism say Lancaster University researchers, who have discovered how a genetic change impacts on insulin signaling and glucose metabolism in the brain.

In the human genome small sections of DNA have been found to be duplicated or deleted in some people, a phenomenon known as Copy Number Variation.

Some of these genetic changes cause neurodevelopmental problems and dramatically increase someone’s risk of developing disorders such as autism, schizophrenia and Tourette’s syndrome.

For example, people with a DNA deletion at chromosome 2p16.3, which results in deletion of the Neurexin1 gene, commonly experience neurodevelopmental delay and cognitive problems.

People with the 2p16.3 deletion are also around 14 to 20 times more likely to develop neurodevelopmental disorders including autism, schizophrenia and Tourette’s syndrome than people without the deletion.

There are an estimated two to three million people worldwide who have this type of DNA deletion but there are currently no effective drug treatments for their resulting cognitive problems.

For the first time, in research funded by The Royal Society, scientists have demonstrated that Neurexin1 gene deletion reduces glucose metabolism in the prefrontal cortex, a key brain region involved in higher-level cognitive functions including cognitive flexibility and paying attention.

Neurexin1 deletion was also found to reduce insulin receptor signaling in the prefrontal cortex, which likely underlies the reduced glucose metabolism seen in this region.

The research, published in the journal Autism Research, give valuable new insight into how this leads to cognitive deficits, behavioural changes and dramatically increases the risk of developing a range of neurodevelopmental disorders.

The key finding that Neurexin1 deletion impacts on insulin signaling and glucose metabolism in the prefrontal cortex suggests that using drugs to increase insulin signaling may be an effective therapeutic strategy.

Lead researcher Dr Neil Dawson from Lancaster University said: «There is an urgent need to further understand the underlying neurobiology of neurodevelopmental disorders in order to develop new treatments.

Drugs to help people with their cognitive and social problems are particularly urgently needed, as these symptoms dramatically impact on their quality of life.»

In addition, the researchers also showed that Neurexin1 deletion causes deficits in cognitive functions that depend on the prefrontal cortex, including a deficit in the ability to be flexible.

The research also found that the reduced glucose metabolism in the prefrontal cortex that results from Neurexin1 deletion was linked with being hyperactive when experiencing novel situations.

A second brain region identified as being impacted by Neurexin1 deletion was the dorsal raphé, which showed increased activity.

This region is the origin of serotonin neurons that project throughout the brain, suggesting that Neurexin1 deletion also makes the serotonin neurotransmitter system dysfunctional.

Dr Neil Dawson said: «In addition, the observation that the serotonin system may be dysfunctional requires further research, and suggests that drugs targeting this neurotransmitter system may also be useful.

We can now test the ability of drugs that target these mechanisms to restore these translational changes seen as part of ongoing research to develop better treatments for people with 2p16.3 deletion, autism, schizophrenia and Tourette’s syndrome.»


Publicado en AUTISMO, DIVULGACIÓN, INVESTIGACION | 27 comentarios

Study identifies biomarkers linked to autism risk

A large study by researchers at Columbia University Mailman School of Public Health and the Norwegian National Institute of Public Health has identified molecular signatures of gestational inflammation linked to the risk of developing autism spectrum disorder (ASD).

In earlier studies, the researchers linked ASD risk to prenatal exposure to maternal fever, and to influenza infection and herpesvirus type 2 infection — two of many potential triggers for maternal inflammation and ASD.

These findings, which provide insights into abnormal brain development, could eventually lead to a test to screen for ASD at birth. The study is published in the journal Molecular Psychiatry.

The new research aligns with growing evidence that the risk of ASD is increased by fetal exposure to inflammation.

In the new study, researchers analyzed the presence of 60 molecular markers of immune response, including cytokines and growth factors.

Blood samples were collected during pregnancy (maternal mid-gestational blood sample) and at birth (cord blood) from 957 children, roughly half of whom were later diagnosed with ASD.

The study linked ASD risk to groupings of inflammation-related molecules, with different groupings seen in boys versus girls. Among the most predictive molecules were interleukins like IL1RA and IL4.

Four molecules thought to be involved in fetal brain development were also linked to ASD risk in both sexes: TNFα, Serpin E1, VCAM1, and IL1β. Biomarkers collected at birth were only slightly less predictive than those collected during pregnancy.

«Our research suggests a period of vulnerability during gestation when inflammation can interfere with central nervous system development,» says first author Xiaoyu (Jason) Che, PhD, assistant professor of biostatistics in the Center for Infection and Immunity at Columbia Mailman School.

«We found immune signatures in mid-pregnancy blood samples from mothers and in umbilical cord blood from children later diagnosed with autism that correlate with responses to infection, and molecules important for the development of the brain and its blood supply,» says study co-first author Mady Hornig, MD, associate professor of epidemiology at Columbia Mailman School.

«This work illustrates the unique power of prospective cohorts for elucidating the roots of disease,» says corresponding author, Ezra Susser, professor of epidemiology and psychiatry.

«This paper is the culmination of more than 20 years of data and sample collection and analysis in collaboration with our colleagues in the Norwegian Institute of Public Health.

Our future research will focus on finding the triggers for inflammation and links between those triggers and genetic susceptibility,» said W. Ian Lipkin, John Snow Professor of Epidemiology and professor of neurology and pathology.

About the Autism Birth Cohort (ABC) Study

The Autism Birth Cohort (ABC) study was conducted within a large Norwegian cohort of more than 100,000 children who have been followed since before their birth.

ABC is a joint effort of the Norwegian National Institute of Public Health (NIPH) and Columbia Mailman School investigators, overseen by a Steering Committee of four people:

Camilla Stoltenberg and Per Magnus in Norway; and Ian Lipkin and Ezra Susser at Columbia. «The ABC study is unique for the scope, depth, and breadth of both biological and social data on ASD,» notes Susser.

The research was supported by the National Institutes of Health (grants NS047537, NS086122), Jane Botsford Johnson Foundation, Korein Foundation, Simons Foundation Autism Research Initiative, the Norwegian Ministry of Health and Care Services, the Norwegian Ministry of Education and Research, and Research Council of Norway (grants 189457, 190694, 196452).

The funders had no role in study design, data collection, and interpretation, or the decision to submit the work for publication. None of the authors reported biomedical financial interests or potential conflicts of interest.


Publicado en AUTISMO, DIVULGACIÓN | 15 comentarios

Different autism risk genes, same effects on brain development

Different autism risk genes

Autism spectrum disorder has been associated with hundreds of different genes, but how these distinct genetic mutations converge on a similar pathology in patients has remained a mystery.

Now, researchers at Harvard University and the Broad Institute of MIT and Harvard have found that three different autism risk genes actually affect similar aspects of neural formation and the same types of neurons in the developing human brain.

By testing the genetic mutations in miniature 3D models of the human brain called «brain organoids,» the researchers identified similar overall defects for each risk gene, although each one acted through unique underlying molecular mechanisms.

The results, published in the journal Nature, give researchers a better understanding of autism spectrum disorder and are a first step toward finding treatments for the condition.

«Much effort in the field is dedicated to understanding whether commonalities exist among the many risk genes associated with autism. Finding such shared features may highlight common targets for broad therapeutic intervention, independent from the genetic origin of disease.

Our data show that multiple disease mutations indeed converge on affecting the same cells and developmental processes, but through distinct mechanisms.

These results encourage the future investigation of therapeutic approaches aimed at the modulation of shared dysfunctional brain properties,» said senior author of the study Paola Arlotta, who is the Golub Family Professor of Stem Cell and Regenerative Biology at Harvard University and an institute member in the Stanley Center for Psychiatric Research at the Broad Institute.

The Arlotta lab focuses on organoid models of the human cerebral cortex, the part of the brain responsible for cognition, perception, and language.

The models start off as stem cells, then grow into a 3D tissue that contains many of the cell types of the cortex, including neurons that are able to fire and connect into circuits.

«In 2019, we published a method to allow the production of organoids with the unique ability to grow reproducibly. They consistently form the same types of cells, in the same order, as the developing human cerebral cortex,» said Silvia Velasco, a senior postdoctoral fellow in the Arlotta lab and a co-lead author in the new study.

«It is a dream come true to now see that organoids can be used to discover something unexpected and very new about a disease as complex as autism.»

In the new study, the researchers generated organoids with a mutation in one of three autism risk genes, which are named SUV420H1ARID1B, and CHD8.

«We decided to start with three genes that have a very broad hypothetical function. They don’t have a clear function that could easily explain what is happening in autism spectrum disorder, so we were interested in seeing if these genes were somehow doing similar things,» said Bruna Paulsen, a postdoctoral fellow in the Arlotta lab and co-lead author.

The researchers grew the organoids over the course of several months, closely modeling the progressive stages of how the human cerebral cortex forms.

They then analyzed the organoids using several technologies: single-cell RNA sequencing and single-cell ATAC-sequencing to measure the changes and regulation in gene expression caused by each disease mutation; proteomics to measure responses in proteins; and calcium imaging to check whether molecular changes were reflected in abnormal activity of the neurons and their networks.

«This study was only possible as a collaboration of several labs that came together, each with their own expertise, to attack a complex problem from multiple angles,» said co-author Joshua Levin, an institute scientist in the Stanley Center and the Klarman Cell Observatory at the Broad Institute.

The researchers found that the risk genes all affected neurons in a similar way, either accelerating or slowing down neural development.

In other words, the neurons developed at the wrong time. Also, not all cells were affected — rather, the risk genes all impacted the same two populations of neurons, an inhibitory type called GABAergic neurons and an excitatory type called deep-layer excitatory projection neurons. This pointed at selected cells that may be special targets in autism.

«The cortex is made in a very orchestrated way: each type of neuron appears at a specific moment, and they start to connect very early.

If you have some cells forming too early or too late compared to when they are supposed to, you might be changing the way circuits are ultimately wired,» said Martina Pigoni, a former postdoctoral fellow in the Arlotta lab and co-lead author.

In addition to testing different risk genes, the researchers also produced organoids using stem cells from different donor individuals.

«Our goal was to see how changes in the organoids might be impacted by an individual’s unique genetic background,» said Amanda Kedaigle, an Arlotta lab computational biologist and co-lead author.

When looking at organoids made from different donors, the overall changes in neural development were similar, yet the level of severity varied across individuals. The risk genes’ effects were fine-tuned by the rest of the donor genome.

«It is puzzling how the same autism risk gene mutations often show variable clinical manifestations in patients.

We found that different human genomic contexts can modulate the manifestation of disease phenotypes in organoids, suggesting that we may be able to use organoids in the future to disentangle these distinct genetic contributions and move closer to more a complete understanding of this complex pathology,» Arlotta said.

«Genetic studies have been wildly successful at identifying alterations in the genome associated with autism spectrum disorders and other neurodevelopmental conditions.

The difficult next step on the path to discovering new treatments is to understand exactly what these mutations do to the developing brain,» said Steven Hyman, who is a Harvard University Distinguished Service Professor of Stem Cell and Regenerative Biology, the director of the Stanley Center at the Broad, and a Broad Institute core member.

«By mapping the alterations in brain circuits when genetic variations are present, we can take the tentative next step in the direction of better diagnoses and uncover new avenues for therapeutic exploration.»

This research was supported by the Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, the National Institutes of Health (R01-MH112940, P50MH094271, U01MH115727, 1RF1MH123977), the Klarman Cell Observatory, and the Howard Hughes Medical Institute. One of the cell lines (HUES66 CHD8) was created with support from the Simons Foundation and the National Institutes of Health.


Publicado en AUTISMO, DIVULGACIÓN | 15 comentarios




Publicado en autismo | 24 comentarios