“I have been suspended for almost twenty years. Even shopping for me is a problem, sometimes going to the bathroom is a problem. I feel a hostage. For those who do not live in our situation, it is difficult to understand how our days are. It should be April 2 every day “. Stefania Stellino is the mother of Daniel and Nicole, aged 15 and 19, both suffering from autism and president of ANGSA-Lazio, the national association for parents of people with autism. And the reason she thinks it should be April 2 every day is because April 2 is World Autism Awareness Day.
It was established in 2007 by the United Nations General Assembly for this very reason: to raise awareness and draw everyone’s attention to the rights of people on the autism spectrum. Which are many, we are talking about a neurodevelopmental disorder that affects about 1 in 100 people with males affected 3-4 times more than females, which in Italy affects one in 500 thousand families and one in 77 children between 7 and 9 years. And that begins in childhood but lasts a lifetime: children with autism become boys and girls, then adults and then elderly, and have a life expectancy comparable to the general one.
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Many situations and only one core
Autism is not only one, but it is a spectrum of disorders, in fact we speak of Autism Spectrum Disorders (ASD) that is a heterogeneous set of situations, but with a core common which consists of impaired social interaction and communication, and repetitive and stereotyped patterns of behavior Symptoms can be mild to moderate or severe, and there may or may not be cognitive impairment: 40-50% of people with autism have also an intellectual disability, but 50-60% do not. Then there is a great heterogeneity of language skills: some have a rich vocabulary and others do not speak.
“These people – he explains Giovanni Valeri, child neuropsychiatrist in charge of the Autism area of the Bambino Gesù Hospital in Rome – they have different functional skills, are able to do different things and need different support. Here, when the diagnosis is made, which is multi-specialist and requires a neuropsychiatrist, a psychologist, a speech therapist and possibly also a neuropsychomotricist, all this is evaluated for each individual child “
The diagnosis
The diagnosis of ASD arrives on average around 3-4 years but it can be done already at 24 months, given that we are talking about an atypical organization of some areas of the brain that occurs between 18 and 36 months. “This is so, we are managing to lower the age of diagnosis, in this sense we have done a lot, but we still have a gap of about two years in Italy as in the rest of the world, and which is probably due to the fact that even today the to grasp the signs of autism is still insufficient, especially in cases of medium-mild severity and without cognitive impairment – he resumes -. And it is a shame because even mild forms can benefit from treatments. This diagnostic gap must be filled. in this sense, the ISS, the Higher Institute of Health, is doing a great job “.
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The national network and children most at risk
Funded by the Ministry of Health and entrusted to the ISS in Italy, we have a National Observatory for the monitoring of autism spectrum disorders which essentially has two objectives: to measure the prevalence of autism spectrum disorders and to identify children with autism and most at risk early. of autism. For this reason, a National Autism Network was built, shared by specialists from all over the country and a year ago, in February 2021, the first diagnostic and therapeutic protocols developed for the National Health Service were presented.
History
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The genetic component
We know that autism has a genetic component since studies on homozygous twins (with the same genetic makeup) and heterozygous twins (different DNA) were conducted in the 1970s. From those studies it emerged that if a child is autistic the probability that his identical twin is also is 80-90%, while in heterozygous twins this probability is 10-20%.
“Since then, several dozen gene loci associated with autism susceptibility have been found – says Valeri. But beyond genetics, there is the environment, understood as the context that surrounds the child from conception. From very extensive studies. it appears that among the environmental risk factors there is the advanced age of the parents at the moment of conception, for example, or prematurity, or an interval of less than 12 months between one pregnancy and the next. ‘is already an individual susceptibility “.
The new guidelines by the end of the year
Since 2017 autism is in the LEA, i.e. the essential levels of assistance are included in the services related to the treatment of ASD, which ensures the affected people a series of free services for the diagnosis and treatment of the disorder. “In Italy we are at the forefront of regulations: for example, we are the only country in Europe to have canceled special classes for children and young people with autism for decades. At one time, the fate of these people was in psychiatric institutes or hospitals that we have closed: choices of civilization, which have also stimulated us Italians to find and implement effective therapeutic paths “, recalls Valeri.
Speaking of therapeutic pathways, we are currently following the guidelines of 2011 “but by the end of 2022 new guidelines will be ready on the diagnosis and treatment of autism spectrum disorders in children and adolescents. And for the first time – adds the neuropsychiatrist infantile – guidelines for adults with autism spectrum disorders will also be published based on the evolution of pathophysiological and therapeutic knowledge. ” Because interventions for people with autism that always include the involvement of families, are there and they work: people with autism do not recover but if treated adequately and early, even in cases of serious disorder they can develop a degree of autonomy essential for the future .
Medicines against associated symptoms
We don’t have any anti-symptom molecules yet core gods of autism. But we have, effective and approved by regulatory agencies, against the symptoms associated with the disorder, risperidone and aripiprazole against irritability and methylphenidate and atomoxetine against hyperactivity. A recent article published in the Journal of Psychiatric Reserch tested the association of risperidone with palmitoylethanolamide (PEA, a lipid molecule with a role in the control of inflammatory phenomena) on a sample of 70 children between 4 and 12 years of age with autism. ).
At the end of the treatment the combination of PEA and risperidone showed a statistically significantly superior effect compared to the therapeutic regimen with risperidone and placebo, with regard to the symptoms of irritability and hyperactivity. The effect of the combined treatment on hyperactivity – the authors declared – was already visible after only 5 weeks of treatment. “However, various researches are underway on new molecules against the symptoms associated with autism – concludes Valeri -. And also against core symptoms”.
Ink on the paper
Waiting for the results of future research, the experts are asking for more concreteness and interventions to protect patients and families. “On paper, a lot has been done and I am referring in particular to Law 134 of 2015, which established the inclusion of ASDs in the LEA and that people with autism, starting from the diagnosis, entered a path of taking charge and accessing therapeutic interventions provided for by the 2011 guidelines “, he resumes Stefania Stellino – But in the vast majority of cases all this has remained ink on the paper. The interventions envisaged by the guidelines are not provided in all regions. In general, families, therapies, and we talk about interventions based on scientific evidence, if they pay for them “.
Some regions require contributions but accessing them is difficult, you need a very low ISEE index. A problem because the interventions are very expensive. “We must consider that we are talking about interventions (cognitive-behavioral, mediated by parents, and more ed) which cost at least 1000-1200 euros per month. Today, early diagnosis is made more than in the past, it is true. But, once the diagnosis has been made, in order to have access to an intervention in the public system, you may have to face a waiting list of one to 3 years long: children thus lose a fundamental time window, because that is the age at which the brain is more plastic, and the intervention should be more intensive to be more effective, “adds Stellino.
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Blue monuments and a dedicated telephone
The evening of 2 April will see the most important Italian monuments light up in blue to inform the population about the issues of autism. Precisely on the occasion of this day, in 2022, the awareness and fundraising campaign # sfidAutismo22 by FIA – Italian Foundation for Autism is back, to which the associations and bodies representing the world of relatives of autistic people and services belong to autism and scientific research. The Campaign opens with RAI which, through RAI per il Sociale, will devote ample space to this issue on all networks with a television program dedicated to April 2, and then continue on many other national and local television and radio broadcasters up to the day of April 10.
Pope Francis alongside patients
Starting with the # sfidAutismo15 campaign, the FIA, the Italian Foundation for Autism, financially supports the Telefono Blu project, implemented by ANGSA. Telefono Blu is a free telephone line, which can be contacted at 800 03 18 19 or at the email address [email protected], from Monday to Friday from 9:30 to 12:30. Telefono Blu is the first and only telephone line dedicated to relatives of autistic people. A number that can provide support and listening.
Pope Francis on Friday 1 April granted a special audience to the Italian Foundation for Autism. During the meeting, the Pontiff will bring his greetings to all present and will have the opportunity to listen to the message of Philip, a 20-year-old boy, who will be the spokesperson and witness of the needs, the joy of living and the efforts that people with autism spectrum disorders.
From 28 March to 10 April, through a Solidarity SMS to 45592, it will be possible to challenge autism by donating 2 euros via SMS from a personal mobile phone Wind Tre, TIM, Vodafone, Iliad, PosteMobile, CoopVoce, Tiscali. The donation will instead be 5 or 10 euros for calls from the fixed network TIM, Vodafone, Wind Tre, Fastweb and Tiscali and 5 euros for calls from the fixed network TWT, Convergenze and PosteMobile.