Researchers identified a specific form of autism caused by a specific neuronal alteration: the presence of an excessive number of synapses in the cerebral cortex. CREDIT IIT-Istituto Italiano di Tecnologia

The autism spectrum is marked by a high degree of heterogeneity, with symptoms and dysfunctions at a neurological level having different degrees of severity and impact. Researchers at the Istituto Italiano di Tecnologia (Italian Institute of Technology, IIT) and at the University of Pisa have identified a form of autism caused by a specific neuronal alteration: the presence of an excessive number of synapses in the cerebral cortex. This discovery, published in the journal Nature Communications, might help guide the development of future pharmacological treatments designed to correct these variations.

The research group includes Alessandro Gozzi, Coordinator of the Centre for Neurosciences and Cognitive Systems (CNCS) at IIT in Rovereto, Michael Lombardo, senior researcher at IIT, and Prof. Massimo Pasqualetti from the University of Pisa. Gozzi and Lombardo are performing research on the brain with resources provided in part by finance from the European Research Council (ERC).

More specifically, experimental observations in animal models using magnetic resonance imaging revealed that an excessive number of synapses, i.e. the microscopic protuberances that send and receive signals amongst neurons, produce dysfunction in brain circuits that are crucial for brain function and social communication.

The researchers further showed that this alteration can be linked to aberrant mTOR protein activity, a key regulator of the production of synapses and a potential target for pharmacological treatment. The investigators confirmed this notion by showing that, when mTOR-hyperactivity is pharmacologically inhibited, the number of synapses returns to physiological levels, completely restoring the functionality and connectivity of the circuits involved.

Based on these results, the researchers then used machine learning methods to investigate whether this specific circuit dysfunction could be identified and singled-out in publicly-available brain scans of people with autism, thereby defining a specific form of autism. This activity revealed that a subgroup of scans do exhibit cerebral connectivity dysfunction very similar to that seen in the murine model. Importantly, a subsequent genetic decoding showed that the identified circuital dysfunction can be mechanistically linked to aberrant mTOR protein activity.

“This work is part of a larger research program aimed to map brain connectivity and understand neurodevelopmental disorders at our Research Centre in Rovereto.”, told Alessandro Gozzi, coordinator of CNCS at IIT. “Our results might help decode the mosaic of autism, which in fact is a heterogeneous group of problems and causes. The challenge that lies ahead of us is now the identification of all the remaining pieces of the autism mosaic, which might enable the future development of precision therapy targeted to specific subsets of autism.”

 “This study shows”, concluded Pasqualetti, “just how important it is to juxtapose advanced models for the study of the functioning of our brain alongside clinical research, both to understand which molecular and cellular alterations could be involved in the origin of the pathology; and to test, on the same models, experimental pharmaceutical protocols or therapeutic interventions which could ameliorate or even correct the cellular alterations observed in the pathological condition”.

The research study has been supported by grants from European Research Council, European Union’s Horizon 2020 – MSCA programme, and Simons Foundation.

Parents and teachers of Jewish autistic children say they frequently have to disregard outdated professional advice not to teach them Hebrew – a recommendation they describe as “stealing” their cultural identity.

In a University of Cambridge study with families and schools around the UK, Jewish parents of autistic children told researchers that non-Jewish specialists, such as speech therapists and paediatricians, often counsel them against teaching their children Hebrew as a second language. Many found this guidance distressing, given Hebrew’s centrality to their spiritual and family life.

The study was the first to investigate Hebrew-English bilingualism and autism in schools. Broadly, a growing body of research suggests that autistic children from bilingual settings will benefit if they learn a second language, but that practitioners often contradict the scientific evidence and tell families this is inappropriate.

Unexpectedly, the new study found that education professionals in Jewish schools tended to back parents in rejecting such guidance as old-fashioned and “unjust”. Jewish teachers’ default position was that autistic children should learn Hebrew wherever possible. In some cases, the pupils then mastered it more proficiently than their neurotypical peers.

The researchers suggest that practitioners, when advising bilingual families with an autistic child, may lack both an awareness of the latest scientific evidence, and appropriate knowledge of cultural contexts which can make second languages critically important to the wider development of autistic people.

They point out that autistic Jewish children who miss out on learning Hebrew are likely to become marginalised from key communal and lifecycle events. For example, they will be less able to join in with annual festivals, or to fulfil the bar mitzvah ceremony at age 13, which involves reading from the Torah.

The study was led by Rabbi David Sher, a doctoral researcher who undertook it while studying for an MPhil in Psychology and Education at the Faculty of Education, University of Cambridge.

“Autistic children often face inequalities throughout school,” he said. “Depressingly, being discouraged from learning a second language, even if their own culture is bilingual, seems to be one example.”

“Although there is no evidence that teaching autistic children a second language is harmful, there seems to be a prevailing, outdated view that it will confuse them and impede their acquisition of English. This overlooks the fact that Jewish children use Hebrew extensively to participate in community and family life. For autistic children, those opportunities are hugely important.”

The researchers conducted detailed interviews and written surveys with 53 parents and educational practitioners, collectively representing 168 autistic children and 20 of the 90 Jewish primary schools in the UK – including four of the five Jewish special schools.

Parents described themselves as being “shocked” after being told not to teach their child Hebrew. One recalled of a meeting with her doctor: “He said straight away: ‘Two languages with children like this complicates things.’ He didn’t even know [my son]; it was part of the rhetoric.” Another parent told the researchers: “It’s their heritage at the end of the day. It’s like stealing what should be theirs.”

Other studies on bilingualism and autism have typically found that schools tend to follow professional guidance about language-learning, even if this contradicts parents’ preferences. In this case, however, the researchers found that staff at Jewish schools – perhaps because of their familiarity with the cultural context – typically overlook the guidance and do teach pupils Hebrew, unless they are already struggling with English.

Teachers often echoed parents’ concerns that forcing autistic children not to learn Hebrew might impoverish their engagement with their faith and the wider community. One, who teaches seven autistic pupils, dismissed the guidance as outdated: “People who hear that a person has autism switch to the old-fashioned model: they think they’re retarded.”

Some teachers said that they had devised bespoke techniques, such as a flashcard-based memorisation system, to help their autistic pupils learn Hebrew words and scripture. “We are ambitious for them to achieve like the other children,” one head told the researchers. “Our autistic children usually learn Hebrew like the rest of the class”. Participants frequently described the effect, in helping children to participate in prayers, festivals, and other activities, as “empowering”.

Teachers and parents also reported that autistic pupils who did acquire proficiency in English showed no difficulty grasping Hebrew as well – sometimes doing so with greater ease than their peers. The finding corresponds to other studies which indicate that despite the advice of some practitioners, bilingual autistic children do not generally experience language development delays.

The research is likely to be relevant to other bilingual communities where parents of autistic children often face similar challenges. For example, Wales has no Welsh-medium specialist autism schools, forcing parents to make a sometimes painful choice between supporting their child’s autism and their cultural heritage.

The researchers, Sher, Dr Jenny Gibson and Dr Wendy Browne, recommend that more should be done to ensure that practitioners working with autistic children from diverse communities understand the cultural and linguistic values of their families. Addressing this may involve awareness training, or simply matching autistic children to psychologists and therapists from similar backgrounds where possible.

Gibson, associate professor of psychology and education at the University of Cambridge, said: “It is essential that practitioners recognise the importance of linguistic and cultural diversity when considering how to support children from minority backgrounds. The idea that autistic children can only learn one language is a myth. Research shows that speaking home languages with family and friends can be incredibly important for building social connections, participating in cultural life, and fostering a sense of wellbeing.”

 

Children with autism spectrum disorder (ASD) are twice as likely to report suicidal thoughts when screened for suicidal ideation during routine medical assessments, according to new research from the Kennedy Krieger Institute.

The study, which was published in the Journal of Developmental & Behavioral Pediatrics, highlights the importance of implementing suicide risk screenings as part of routine health care in children with neurodevelopmental disorders, and especially those with ASD, said Suzanne Rybczynski, MD, MSHCM, Kennedy Krieger’s associate chief medical officer and the study’s principal investigator.

“We need talk about mental health, especially suicide, and work to destigmatize it,” Dr. Rybczynski said. “Mental health is not separate from overall health—it’s all one person. Performing suicide risk screenings along with routine medical screenings recognizes that mental health is as important as our physical health and a key part of our lives.”

The study concluded that implementing a routine suicide risk screening for children with neurodevelopmental disabilities, identifying risk among those participants, and then providing follow-up mental health care to the patients who needed it were feasible steps to undertake as clinicians work to lower the risk of suicide among children and adolescents.

Suicide is the second leading cause of death for people ages 10 to 34 in the U.S.

In 2017, Kennedy Krieger clinicians instituted a four-question suicide risk screening for all patients ages 8 to 18 as part of every medical screening at the Institute’s outpatient clinics. The suicide risk screening questions were developed by the National Institute of Mental Health. If patients answered yes to any of the four questions, a physician, nurse practitioner, psychologist, or social worker performed a suicide safety assessment. An appropriate mental health plan was formulated for the patient based on the assessment.

“Many early suicide prevention efforts among children and adolescents focused on typically developing children, but we need to consider children with neurodevelopmental disabilities as well,” Rybczynski said. “Just because we don’t think a patient is capable of having suicidal thoughts, doesn’t mean they aren’t having those thoughts.”

The study examined the suicide risk screenings during a six-month period and found that children with neurodevelopmental disorders were as likely as their peers to experience suicidal ideation. However, children with ASD were twice as likely to report suicidal thoughts during these screenings, which correlates with other research on this population, Dr. Rybczynski said.

The next step is for researchers to further assess the validity of the study’s suicide risk screening tools in children with neurodevelopmental disabilities and to continue to advocate for routine suicide risk screenings for all children to identify those that need our help, Dr. Rybczynski said.

In some New Jersey communities up to 8 percent of children have autism spectrum disorder (ASD) — more than triple the national average, according to a Rutgers study.

Funded by the Centers for Disease Control and Prevention the study appears in the journal Autism Research.

Researchers analyzed data from the Autism and Developmental Disabilities Monitoring Network — a group of programs funded by CDC to estimate the number of children with autism — looking at 5,453 children in public school districts in Essex, Hudson and Union counties who were 8 years old in 2016.

They discovered an estimated autism prevalence of 36 children per 1,000 in most regions, but greater than 70 per 1,000 in multiple school districts in the state. The national average of children with autiusm is 2 percent.

“When we focused on the district level, we recognized that many communities in our region —approximately one in five, including some of the largest — had autism rates between 5 percent and 10 percent,” said study co-author Josephine Shenouda, a project coordinator at Rutgers New Jersey Medical School. “These variations may reflect differences in use of services or access to care. Larger districts may provide more services from a greater number of professionals or have additional resources for detection or care of autism.  It is also possible that parents of children with learning or developmental disorders relocate from small districts to large districts to maximize their children’s educational attainment.”

The study also found that one in five school districts had autism estimates greater than 5 percent and that Hispanic children were less likely to be identified with autism , compared to white and Black peers, indicating a significant disparity in identification.

Autism prevalence was approximately 5 percent in Newark, the state’s largest school district. Tom’s River, which is the state’s largest suburban school district, had the highest autism prevalence (7.3 percent), with a 12 percent prevalence among boys. “We found that mid-socioeconomic status communities, like Toms River, had the highest ASD rates, which was contrary to expectation because in earlier U.S. studies ASD rates were highest in high- socioeconomic status communities,” said Shenouda.

“The study suggests that effective educational and health planning should be informed by community and county level estimates and data as well as by state and national averages,” said coauthor Walter Zahorodny, an associate professor of pediatrics at Rutgers New Jersey Medical School. “It also shows that additional effort is needed to reduce disparities in the identification of ASD in the Hispanic community, including expansion of ASD screening of toddler-age children.”

Other Rutgers authors include Emily Barrett, Amy L. Davidow, William Halperin and Vincent Silenzio.