Autism, early diagnosis and timely treatment thanks to telemedicine screening

The estimates speak for themselves. In Italy one child in 77 aged 7-9 would have an autism spectrum disorder. The risk appears higher among boys, 4.4 times more than among girls. A biologically determined behavioral condition that It begins in the very first years of life and manifests itself in mutual social interaction, communication skills and interests that are repeated in a repetitive and stereotyped way. Let’s be clear. These are very different signals, for example very young children do not respond to laughter and hugs, they are very different and personal, they are often accompanied by language disorders and delays in intellectual development.

The “signals” already present in the first year of life

As it often happens, early diagnosis is essential. We need to be able to grasp signals that may be present already in the first year of life. Recognizing them and arriving at early recognition of the picture is essential to carry out habilitative and rehabilitative strengthening activities to intervene on the developmental trajectory of children. Furthermore, it is important make the family aware and help them to respond to the characteristics of children so that they can develop their own skills and ensure that they can integrate into society in the best possible way.

In identifying the first signs it is crucial the intervention of the pediatrician of free choice in the screening activity in order to send the children to Territorial autism functional nuclei (NFA) for further information and possible confirmation of the diagnostic question.

The telemedicine platform

In 2021, the Lombardy Region launched the «Regional Autism Operational Plan» where the WIN4ASD (Web Italian Network for Autism Spectrum Disorder) telemedicine platform, which allows you to speed up evaluation times, it is referred to as the tool for early diagnosis. It is available to all paediatricians of free choice and extended to the eight regional health protection agencies (ATS).

The web tool was born from a project, financed with a tender from the Ministry of Health, by the researcher’s group Paola Colombo, head of Medea SmartLab, Digital Innovation Laboratory for clinical and applied research in developmental psychopathology, IRCCS E. Medea Associazione La Nostra Famiglia. The objective was twofold: to respond to the need for the pediatrician to recognize the first signs of the disorder and to arrive at the neuropsychiatrist’s diagnosis as soon as possible.

Quick and simple controls

«Our idea was to develop a telemedicine system that would satisfy the need of pediatricians to carry out a simple and fast screening and to be interconnected with the local Neuropsychiatry service – explains Paola Colombo – so that the child at risk could be sent to the relevant service as quickly as possible».

CHAT screening

From this need, WIN4ASD was born in 2016, the application created by researchers which allows, on the occasion of the 18-month health assessment, to CHAT screening (Checklist for Autism in Toddlers) as indicated by the guidelines of the Higher Institute of Health for autism spectrum disorders.

The tool involves the pediatrician: 14 questions, nine are answered by the parents, the other five are observations by the specialist and ten minutes are enough. Responses are processed and within seconds and the application sends the result of the CHAT: no risk, medium or high. And therefore the pediatrician can take the foreseen actions such as, for example, repeating the test after thirty days or sending the child to the specialist for further diagnostic analysis.

The results: over 52 thousand checks carried out

«Initially they were involved in the test a group of 15 pediatricians from the Lecco area, it was subsequently expanded with specialists from Valle Olona and now there are 1,237 members and 69% are active daily – clarifies the expert -. To date, 51,386 children have been assessed, for a total of 52,039 screenings performedin some cases it must be repeated after a month by the pediatrician. The children sent to the territorial NFAs in Fast-Track mode are 633. From of these, 327 were found to be at high risk with the indication of receiving a first visit within two weeks of the report”.

These are important numbers that denote the capillarity and value of the screening that makes it possible taken over by the specialist e therefore the possibility of helping the child to enhance his adaptability to society and improve his quality of life and that of his family. The project was the subject of the study published in the international journal Brain Science in 2022.

SmartLab activities: neurodevelopmental disorders

«Among the activities carried out by SmartLab in our centre, it has been active for some years Medical BIT an innovative digital service for neurodevelopmental disordersemotional fragility and behavioral difficulties – explains Paola Colombo, to date almost 3 thousand patients belonging to our Child Neuropsychiatry Center have used the services on the platform. It is a platform dedicated to children and their families, which accompanies them in evaluation, rehabilitation and treatment, thanks to innovative individualized multimedia paths that integrate with traditional clinical practice, enriching the therapeutic and rehabilitation process”.

The NIDA Regional Center

In the Lombardy Region, the IRCCS E. Medea is the regional NIDA centre, the Italian Network for the Early Recognition of Autism Spectrum Disorders coordinated by the Higher Institute of Health. It is a network aimed at the early identification of children with neurodevelopmental disorders, in particular, with autism spectrum disorder (ASD). «For over seventy years we have been engaged in research, treatment and training in the field of neurological and neuropsychiatric pathologies of the developmental age – he explains Massimo Moltenichild neuropsychiatrist, central health director of IRCCS E. Medea La Nostra Famiglia Association and head of the Developmental Psychopathology Area – Every year around 1,600 children and young people are hospitalized and around 7,900 people are hospitalized in rehabilitation centres.

«In 2023, thanks to the clinical activity of the Developmental Psychopathology Area of ​​the Bosisio Parini headquarters, approximately 300 patients have received the diagnosis of Autism Spectrum Disorder, 230 patients have been followed in clinical follow-up, and over 200 patients access the services to set up the rehabilitation process. – And the expert concludes – our commitment to neurodevelopmental disorders is being able to start children on a path to treatment as early as possible that can help them and their families to better integrate into society.”