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Investigating the iPhone application for young children, which reveals signs of autism, has shown that it is easy to use, is welcomed by caretakers and works well with reliable scientific data.

The study, described on June 1 in the journal of open access to Digital Medicine, points the way to a wider, easier access to the diagnosis of autism and other neurodevelopmental disorders.

The application first manages the consent forms for care and polling, and then uses the phone's "selfie" camera to collect video reactions of young children's reactions while they watch films designed to identify the risk of autism, for example, emotions and attention on the device screen .

The child's video reactions are sent to the research servers, where the automatic behavioral coding software tracks the movement of video landmarks on the child's face and quantifies the emotions and attention of the child. For example, in response to a short video of bubbles floating around the screen, the video encoding algorithm looks for the movements of the person that will point to joy.

In this study, children whose parents rated their child as having a large number of autism symptoms showed less joyful emotions in response to the blisters.

Prevention of autism in young children is currently carried out in a clinical setting, rather than in the child's natural environment, and people with a high degree of preparation are required to learn and analyze the results. "It's not scalable," says Helen Egger of New York University, one of the co-leaders of the study.

This study, based on informed consent on data collection and preliminary analysis, was conducted using an application available free of charge from the Apple Store and based on Apple ResearchKit's open source development platform.

During the year, more than 10,000 downloads of the application were downloaded, and the study involved 1,756 families with children aged one to six years. Parents completed 5,618 polls and downloaded 4,441 videos. Useful data was collected on 88 percent of downloaded videos, demonstrating for the first time the possibility of using this type of tool for observation and coding in natural environments.

"This demonstrates the feasibility of this approach," says Geraldine Dawson, Ph.D., director of the Center for Autism and Brain Development and co-chair of the study. "Many educators were ready to participate, the data was of high quality, and the video analysis algorithms produced results consistent with the results we produce in our autism program."

The application-based approach can significantly improve in areas with insufficient protection and greatly facilitate tracking of changes in each child over time, said Guillermo Sapiro, Edmund T. Pratt, Jr. Professor of the Department of Electrical and Computer Engineering Duke and one of the co-chairs of the study .

"This technology has the potential to transform how we screen and control the development of children," said Sapiro.

The project reported consisted of a 12-month study. The whole test took about 20 minutes, and only a few minutes with the child's participation.

The application also included a widespread questionnaire that screens the autism spectrum disorder. On the basis of the questionnaire, participating families received some feedback from the appendix on what could be an obvious risk of autism in a child. If parents reported a high level of signs of autism in the questionnaire, they were asked to seek further medical advice.


Materials provided by Duke University.

Journal Reference:

Helen L. Egger, Geraldine Dawson, Jordan Hashemi, Kimberly L. Kh. Carpenter, Stephen Espinosa, Kathleen Campbell, Samuel Brotkin, Jana Shaich-Borg, Qian Qiu, Mariano Tepper, Jeffrey P. Baker, Richard A. Bloomfield , Guillermo Sapiro. Automatic analysis of emotions and attention in young children at home: a feasibility study of Autism ResearchKit. npj Digital Medicine, 2018; 1 (1) DOI: 10.1038 / s41746-018-0024-6



According to studies of a large population, girls with a diagnosis of autism have more serious violations in social communication than boys.

There are one girl in four diagnosed boys. But this ratio may partially reflect the bias in the diagnostic process: the tools used for screening and diagnosis are based primarily on the data of the boys.

New work suggests that girls are more likely to get an autism diagnosis only if they have significant social impairments - supporting the idea that diagnostic tools are missing some girls with this disease.

"This is worrying," says lead researcher Laura Carpenter, a professor of pediatrics and psychiatry at the University of South Carolina Medical School in Charleston. "Do we miss the girls who have weaker signs of autism?"

The findings also highlight the gender differences in social communication among typical children: girls may need better social skills, for "normal" behavior.

«The study contributes in terms of large-scale demonstration of the differences of the population makes autism spectrum disorders" - says Renee Jamison, a clinical associate professor at the University of Kansas Medical Center in Kansas City, who was not involved in the study. "This illustrates the need to consider reference groups on the basis of gender."

Boy's mobility:

Carpenter and her colleagues checked 1731 boys and 1,789 girls for autism symptoms using a social communication form (SCQ) that parents fill out. Children between the ages of 8 and 10 are part of the South Carolina Children's Educational Surveillance, an autism survey of children born in 2004, and study in 123 schools.

Of their SCQ estimates, researchers classified about 9 percent of boys and about 5 percent of girls as being at risk of autism. Of these children, 112 had a full diagnostic evaluation. A random sample of 160 children who did not score in the risk group also completed the evaluation.

The ratio of boys and girls who have been diagnosed with autism is even higher than that of a risk group: about 25% of boys were diagnosed compared with 7.4% of girls.

This result suggests that the diagnostic score is skewed. Girls diagnosed with autism were completely superimposed on those who met SCQ cutoffs, which indicates that the screen is accurate for girls. "The interpretation is that the actual diagnostic assessment is biased against the phenotype of female autism," says William Mandy, a senior lecturer in clinical psychology at London College London, who did not participate in the study. The results were published on March 30 in the Journal of Clinical Pediatric and Adolescent Psychology.

Testing the test:

Supporting this interpretation, girls with child autism scored four points higher in SCQ on average than boys, assuming that only girls with severe characteristics are diagnosed. In particular, girls tend to have more problems with social communication, for example, playing in groups or smiling. (There was no difference between boys and girls in limited and repetitive behavior, which contradicts the previous work.)

The differences in social communication may be partly related to the problems faced by women when they approach adolescence, - says Maricela Huerta, associate professor of clinical psychiatry psychology at Weill Cornell Medicine in New York, who was not involved in the study .

"Perhaps we will put an end when the expectation of social behavior for girls as a whole may not be the same as for boys," says Huerta.

The researchers analyzed individual SCQ questions to determine which of them best distinguish children who have autism from those who do not. Elements that measure the social and spontaneous behavior of children aged 4 and 5 years, when signs of autism often become apparent, are the most predictable for diagnosing autism. These questions are also particularly good in identifying girls with this disease. However, questions about limited and repeated behavior are not good predictors of the condition in either girls or boys.

SCQ seems problematic as a diagnosis for boys: about 10 percent of boys who fall below the risk level have autism. This suggests that clinicians should be more attentive to boys who do not meet SCQ criteria, or to combine diagnostics with other tests.

The Carpenter team plans to look at the sex differences in the characteristics of autism among young children using several screening and diagnostic tools.


Evans SC et al. J Clin. The child is a teenager. Psychol. Epub (2018) PubMed


Brianna Abbott

Beim kindlichen Autismus gibt es oft Probleme, die Gedanken anderer Menschen zu verstehen, und einige können dies kompensieren, indem sie Szenarien erstellen und andere erlernte Strategien verwenden, um in sozialen Situationen zu navigieren. Aber diese Entschädigung ist teuer, eine neue Studie legt nahe, dass Kinder, die dies tun, extrem ängstlich werden.

Diese Kinder sind auch berechenbarer als diejenigen, die hohe Grade in verbalen Intelligenztests und eine Reihe von mentalen Fähigkeiten, die exekutive Funktionen genannt werden, nicht kompensieren.

Kompensation kann nützlich sein für Menschen, die keine starke Theorie der Vernunft haben, das heißt, die Fähigkeit, die Wünsche und Absichten anderer zu verstehen.

«Wir glauben, dass diese Menschen, die für ihre Schwierigkeiten Theorie des Geistes“ kompensieren kann - sagt Lucy Livingston, ein Doktorand im Labor von Francesca Happe am Kings College London, die an der Studie gearbeitet. "Aber die Beweise deuten darauf hin, dass es möglicherweise eine negative Auswirkung dieser Entschädigung geben könnte."

Die Ergebnisse legen nahe, dass Kliniker versuchen sollten, Kinder zu identifizieren, die Schwierigkeiten ausgleichen und auf eine Therapie verweisen, die Angstzustände lindert und ihre sozialen Fähigkeiten verbessert.

«Wenn Sie solche Bedenken rufen können Sie die Menschen die Möglichkeit geben, für sie, um effektiver zu kompensieren, weil sie„nicht unter Stress - sagt Igor Skuz David, Professor für Verhaltens- und Neurowissenschaften am University College London, der nicht an der Studie beteiligt war. "Hier sehe ich Möglichkeiten zur Intervention."

Den Geist messen:

Die Studie umfasste 136 Kinder mit Autismus-Symptomen im Alter von 10 bis 15 Jahren, die Teil des Studiums der sozialen Beziehungen im Vereinigten Königreich sind. Die Forscher bewerteten die Zeichen von Autismus bei Kindern anhand einer Grafik der autistischen diagnostischen Beobachtung (ADOS).

Kinder und ihre Eltern füllten Fragebögen aus, um das Ausmaß der Angst von Kindern zu beurteilen. Für Kinder auch Tests der verbalen und nonverbalen Intelligenz durchgeführt (IQ) sie Aufgaben durchgeführt, die ihre Theorie des Geistes und der Exekutivfunktion ausgewertet, einschließlich Kurzzeitgedächtnis und die Fähigkeit, von einer Aufgabe zur anderen zu wechseln.

Bei Kindern mit Schwierigkeiten in der Theorie der Vernunft zeigen etwa die Hälfte starke Sozialkompetenzen bei ADOS, was darauf hindeutet, dass sie ihr soziales Defizit kompensieren.

Kinder, die eine Entschädigung erhalten, haben im verbalen IQ-Test 93 Punkte erzielt, im Durchschnitt 9 Punkte mehr als andere Punkte. Kinder, die eine Entschädigung erhalten, haben auch eine bessere Exekutivfunktion als diejenigen, die keine Entschädigung erhalten.

Diese Kinder berichten über ein höheres Maß an Angst, obwohl sich dieser Unterschied nicht in den Berichten der Eltern widerspiegelt. Die Studie erschien am 26. März im Journal of Child Psychology und Psychiatrie.

"Die Ergebnisse gehen in die erwartete Richtung, ein höheres Maß an Intelligenz, das ist die beste Exekutivfunktion und erhöhte Angst", sagt Skues.

Die Forscher fanden keine Korrelation zwischen Kompensation und Geschlecht, trotz der Arbeit, die nahelegt, dass Verschleierung (implizierte Verschleierung von sozialen Problemen, Kopieren des Verhaltens anderer) bei Mädchen häufiger ist. Aber Jungen in der Studie übertrafen die Zahl der Mädchen von 12 bis 24 Jahren, so dass Wissenschaftler bessere Indikatoren brauchen, um den Unterschied zu finden.

Begrenztes Verständnis:

Die Forscher wissen immer noch nicht genau, wie weit verbreitet die Kompensation ist oder wer diese Technik am häufigsten verwendet.

"Jetzt haben wir ein sehr begrenztes Verständnis", sagt Lauren Kennworthy, außerordentliche Professorin für Neurologie, Pädiatrie und Psychiatrie an der George Washington Universität in Washington, DC, die an dieser Arbeit nicht beteiligt war. "Diese Arbeit richtet unsere Aufmerksamkeit auf die Kompensation."

Die Ergebnisse sind vorläufig, und die Fähigkeit einer Person, zu kompensieren, kann sich von den klinischen Bedingungen unterscheiden.

Die Studie basiert auf "einer ziemlich strukturierten Interaktion einer Person mit einer anderen", sagt Livingston. "Kompensation in realen Situationen kann viel schwieriger sein."

Forscher versuchen, Entschädigung in realistischen sozialen Umgebungen wie Spielplätzen oder Klassenzimmern zu studieren. Sie planen auch, Leute zu fragen, die Entschädigung verwenden, welche Strategien sie verwenden. Eines der Ziele ist es, festzustellen, ob Menschen mit einer Autismus-Diagnose der Ansicht sind, dass Sozialleistungen etwas Wertvolles sind.


Livingston LA et al. J. Kind Psychol. Psychiatrie Epub vor dem Druck (2018) PubMed


Researchers at the University of Adelaide discovered a genetic signal that is characteristic of both cerebral palsy and autism.

The detection comes from the first large-scale study of gene expression in children with cerebral palsy.

Scientists from the Australian joint cerebral palsy group at the Robinson Research Institute also showed common basic molecular pathways in clinically diverse cerebral palsy. They say that both conclusions significantly affect the weight of evidence for the underlying genetic causes of cerebral palsy. "Cerebral palsy is the most common motor incapacity of childhood with a frequency of about two in 1,000 newborns," said lead researcher Dr. Clare van Eyck, a research assistant, Adelaide Medical School, and the University of Adelaide. "We know that, like autism, it is a brain development disorder primarily during pregnancy. But the main causes of cerebral palsy are still poorly understood. "

In this study, scientists use the new RNA sequencing technology to measure messenger genes (RNAs) in cells in children with cerebral palsy.

Cell lines were studied in 182 individuals with cerebral palsy, and many of them showed impaired cellular signaling and inflammatory pathways, as seen in some children diagnosed with autism. "The results showed that neurological or signaling pathways that are disrupted in children with cerebral palsy intersect with those that are observed in childhood autism," says Dr. van Eyck. "This supports common biological changes in both cerebral palsy and autism spectrum disorders. Sometimes autism and cerebral palsy co-exist, which further emphasizes the general cause of appearance in some people. "

This is the last of a series of studies from the University of Adelaide, which has revealed a greater number of genetic mutations that are a probable cause of cerebral palsy. The use of these data, together with existing DNA sequencing results, increases the proportion of people with a probable genetic cause to about 25%.

The research group of the Cerebral Palsy of the University is headed by the Honored Professor Alastair McLannan and Professor Josef Gech, the Chairman of the Research Fund of the 7th Channel on the Prevention of Childhood Disability. They are leading the world in discovering the increasing genetic basis of cerebral palsy.

"This study continues to disprove the historical assumption that cerebral palsy is often associated with birth difficulties," says Professor McLennan.

Source: Materials provided by the University of Adelaide.

Journal Reference:

Claire L. van Eyck, Mark A. Corbett, Alison Gardner, Breguet W. van Bone, Jessica L. Broadbent, Kelly Harper, Alastair M. McLennan, Joseph Hex. The analysis of 182 transcripts of cerebral palsy indicates the dysregulation of trophic signaling pathways and overlap with autism. Translational psychiatry, 2018; 8 (1) DOI: 10.1038 / s41398-018-0136-4


About our Centre

The Scientific and Practical Center for the Rehabilitation and Treatment of Autism Spectrum Disorders is working together with the Center for the Rehabilitation of Disabled Children "Our Sunny World".

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We offer a wide range of professional training programs and seminars for all groups of professionals interacting with autism spectrum disorders.