Previous neuroradiologic studies reported a high incidence of abnormalities in low-functioning autistic children. In this population, it is difficult to know which abnormality depends on autism itself and which is related to intellectual disability associated with autism. The aim of this study was to evaluate the frequency of neuroradiologic abnormalities in low-functioning autistic children compared to Intellectual Quotient and age-matched nonsyndromic children, using the same set of magnetic resonance imaging (MRI) sequences. MRI was rated as abnormal in 44% of autistic and 54% of children with intellectual disability. The main results were mega cisterna magna in autism and hypoplastic corpus callosum in intellectual disability. These abnormalities are morphologically visible signs of altered brain development. These findings, more frequent than expected, are not specific to the 2 conditions. Although MRI cannot be considered mandatory, it allows an in-depth clinical assessment in nonsyndromic intellectual-disabled and autistic children.

BACKGROUND AND PURPOSE: In the past decades, a large body of work aimed at investigating brain structural anomalies accrued in autism spectrum disorder. Autism spectrum disorder is associated with intellectual disability in up to 50% of cases. However, only a few neuroimaging studies were conducted in autism spectrum disorder with intellectual disability, and none of them benefited from a nonsyndromic intellectual disability control group. MATERIALS AND METHODS: We performed a voxelwise investigation of the structural alterations in 25 children with autism spectrum disorder with intellectual disability by comparing them with 25 typically developing children and 25 nonsyndromic children with an intellectual disability. Besides a classic voxel-based morphometry statistical approach, the threshold-free cluster enhancement statistical approach was adopted. RESULTS: Classic voxel-based morphometry results did not survive family-wise error correction. The threshold-free cluster enhancement–based analysis corrected for family-wise error highlighted the following: 1) widespread focal cortical anomalies and corpus callosum alteration detected in autism spectrum disorder with intellectual disability; 2) basal ganglia and basal forebrain alteration detected both in autism spectrum disorder with intellectual disability and in nonsyndromic intellectual disability; and 3) differences in the frontocingulate-parietal cortex between autism spectrum disorder with intellectual disability and nonsyndromic intellectual disability. CONCLUSIONS: The present study suggests that the frontocingulate-parietal cortex may be the eligible key region for further investigations aiming at detecting imaging biomarkers in autism spectrum disorder with intellectual disability. The detection of structural alterations in neurodevelopmental disorders may be dramatically improved by using a threshold-free cluster enhancement statistical approach.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication, social interaction, and restricted behaviors. The importance of early intervention has been widely demonstrated, and developmental trajectories in ASD emphasize the importance of nonverbal communication, such as intransitive gesture production, as a possible positive prognostic factor for language development. The use of technological tools in the therapy of individuals with ASD has also become increasingly important due to their higher engagement and responsiveness to technological objects, such as robots.Materials and methods: We developed a training protocol using the humanoid robot NAO, called IOGIOCO (Interactive mirroring Games wIth sOCial rObot), based on the use of intransitive gestures embedded in naturalistic dialogues, stimulating a triadic interaction between child, robot and therapist. The training was divided into six levels; the first 2 levels were called “familiarization levels,” and the other 4 were “training levels”. The technological setup includes different complexity levels, from mirroring tasks to building spontaneous interactions. We tested the protocol on 10 preschool children with ASD (aged 2–6 years) for 14 weeks. We assessed them at recruitment (T0), at the end of training (T1), and after 6 months (T2).Results: We demonstrated the tolerability of the protocol. We found that one group (n=4, males and 2 females) reached the training level, while another and group (n=6 males) remained at a familiarization level (mirroring), we analyzed the results for the two groups. In the group that reached the training levels, we found promising results, such as an improvement in the Social Adaptive Domain of the ABAS-II questionnaire between T0 and T2.Conclusion: While current results will need a Randomized Controlled Trial to be confirmed, the present work sets an important milestone in using social robots for ASD treatment, aimed at impacting social and communication skills in everyday life.