Repetitive and stereotyped behaviors in neurodevelopmental disorders: an observational analysis of four diagnostic groups.

BACKGROUND: Repetitive and Stereotyped Behaviors (ST) are one of the key features of autism spectrum disorder (ASD) and they frequently occur in children with developmental delay/intellectual disability or sensory deprivation, but they are also described in children otherwise typical. This study aims to describe and compare ST in children with different neurodevelopmental disorders and in children having stereotypies but no other medical diagnosis (primary stereotypies). METHODS: The study sample comprised children with autism spectrum disorder (ASD) developmental delay (DD), severe visual impairment (VI) and primary stereotypies (PS), aged between 2 and 12 years old. The characteristics of the ST (age of onset, frequency, duration, triggers, phenomenology) were collected from their clinical history. The children's caregivers completed the Repetitive Behavior Scalerevised (RBS-R) and the Child Behavior Checklist (CBCL) to assess the ST and to screen for behavioral problems, respectively. Data concerning family history and comorbidity were also collected. RESULTS: 87 children (ASD [n=23]; DD [n=21]; VI [n=20]; PS [n=23]) were assessed. Mean age of ST onset was before 24 months in the whole sample. Symptoms usually occurred more than once a day in all groups, but Self-Injurious Behavior (SIB) and ST were reported at higher scores on the RBS-R in Secondary group. Stereotypies lasted less than 5 minutes in all but VI sample, in which lasted longer. Stereotypies of locomotion were mostly reported in ASD, self-injurious behaviors in VI, upper limb stereotypies in PS and DD. Parents reported several repetitive behaviors on the RBS-R, while attention deficit and withdrawn behavior appeared to be the main findings of the sample in the CBCL. Finally, a high number of comorbidities and family history for neurodevelopmental disorders was found in all groups. CONCLUSIONS: The study showed that some specific patterns of stereotypies could be identified in most groups of disorders. At the same time the behavioral profile of children with stereotypies shows a significant overlap among different groups. These preliminary results suggest that stereotypies are strongly linked to neurodevelopmental disorders, but their association needs to be clarified with further studies.

Management of Autism Spectrum Disorder in Italian Units of Child and Adolescent Mental Health: Diagnostic and Referral Pathways.

Overall, the present pilot study provides detailed information on clinical management for Autism Spectrum Disorder (ASD) referral and diagnosis processes that are mandatory for child and adolescent mental health management. The analysis of ASD management, even if carried out on a selected sample of Child and Adolescent Mental Health (CAMH) units, represents a good approximation of how, in Italian outpatient settings, children and adolescents with ASD are recognised and eventually diagnosed. One of the aims of the study was to verify the adherence of Italian CAMH units to international recommendations for ASD referral and diagnosis and whether these processes can be traced using individual chart reports. Overall, the analysis evidenced that Italian CAMH units adopt an acceptable standard for ASD diagnosis, although the reporting of the ASD managing process in the individual chart is not always accurate. Furthermore, data collected suggest some improvements that CAMH units should implement to fill the gap with international recommendations, namely, establishing a multidisciplinary team for diagnosis, improving the assessment of physical and mental conditions by the use of standardised tools, implementing a specific assessment for challenging behaviours that could allow timely and specific planning of intervention.

Autistic-Like Features in Visually Impaired Children: A Review of Literature and Directions for Future Research.

There remains great interest in understanding the relationship between visual impairment (VI) and autism spectrum disorder (ASD) due to the extraordinarily high prevalence of ASD in blind and visually impaired children. The broad variability across individuals and assessment methodologies have made it difficult to understand whether autistic-like symptoms shown by some children with VI might reflect the influence of the visual deficit, or represent a primary neurodevelopmental condition that occurs independently of the VI itself. In the absence of a valid methodology adapted for the visually impaired population, diagnosis of ASD in children with VI is often based on non-objective clinical impression, with inconclusive prevalence data. In this review, we discuss the current state of knowledge and suggest directions for future research.

Autism in Children With Cerebral and Peripheral Visual Impairment: Fact or Artifact?

The aim of this study was to evaluate the occurrence and clinical characteristics of autism spectrum disorder in visually impaired children. In total, 273 participants, 214 with cerebral causes of vision impairment and 59 with peripheral causes, were assessed using multiple assessment methods and adapted for individuals with vision loss. We found that autism spectrum disorder was more prevalent in the visually impaired compared to general population, and that the prevalence varied according to the type of visual disorder (2.8% for cerebral and 8.4% for peripheral visual impairment). In subjects with cerebral visual impairment, the presence of autistic symptoms was consistent with the diagnosis of autism spectrum disorder. In children with peripheral visual impairment, certain symptoms related to visual loss overlapped with the clinical features of autism spectrum disorder, thus making clinical diagnosis more challenging. The development of assessment tools that take into account the type and level of visual impairment and validation testing in a larger population sample are needed in order to confirm these initial findings regarding the diagnosis of autism spectrum disorder in visually impaired children.

Social cognition in autism: Face tuning.

Faces convey valuable information for social cognition, effective interpersonal interaction, and non-verbal communication. Face perception is believed to be atypical in autism, but the origin of this deficit is controversial. Dominant featural face encoding is suggested to be responsible for face tuning scarcity. Here we used a recently developed Face-n-Food paradigm for studying face tuning in individuals with autistic spectrum disorders (ASD). The key benefit of these images is that single components do not explicitly trigger face processing. In a spontaneous recognition task, adolescents with autism and typically developing matched controls were presented with a set of Face-n-Food images in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The set of images was shown in a predetermined order from the least to most resembling a face. Thresholds for recognition of the Face-n-Food images as a face in ASD individuals were substantially higher than in typically developing controls: they did not report seeing a face on the images, which controls easily recognized as a face, and gave overall fewer face responses. This outcome not only lends support to atypical face tuning, but provides novel insights into the origin of face encoding deficits in autism.

Representation of survey and route spatial descriptions in children with nonverbal (visuospatial) learning disabilities.

This study aims to investigate the types of difficulty encountered by children with nonverbal (visuospatial) learning disabilities (NLD) during the processing of spatial information derived from descriptions. Two spatial descriptions--one in survey, one in route perspective--and one nonspatial description were orally presented to children aged 9-12 divided in three groups: (i) with NLD (N=12), (ii) with reading disability (RD) (N=11), and (iii) without learning disabilities who served as controls (N=16). Children performed two tasks: sentence verification and location. In the verification task, NLD performed worse in survey text than control and RD groups. Moreover, in the location task NLD were worse than controls in both survey and route descriptions, but significantly poorer than the RD group only in the survey description. The results are discussed considering their implications in understanding the neuropsychological profile of NLD and the processes involved by different types of spatial descriptions.