Are early visual behavior impairments involved in the onset of autism spectrum disorders? Insights for early diagnosis and intervention.

A correct use of the visual behavior (VB), and its integration with motor function, represents the earliest mean used by infants to explore and act on the social and non-social surrounding environment. The aim of this mini review is to present influential evidence of abnormalities in the VB domain in ASD individuals and to discuss the implication of these findings for early identification and intervention. We analyzed the possible anomalies in oculomotor abilities, visual attention, and visual-motor integration, as parts of a wider visual behavior defect, that could affect children with autism spectrum disorders (ASD) since the early stages of development.Conclusion: According to the literature, difficulties in these three areas have been often reported in children with ASD, and the visual-perception deficit could have cascading effects on learning processes and on social development. Despite this evidence of atypical VB in ASD, their investigation is not yet included into diagnostic processes, and they are not yet considered a specific treatment target.What is Known:•Atypical social use of visual behavior is one the first symptoms in children with autism spectrum disorders•Individuals with autism spectrum disorders often show unusual visual exploration of the surrounding environmentWhat is New:•It is possible to hypothesize that early visual behavior abnormalities may affect experiences that permit learning processes and social and communicative development in infants•An early assessment of visual behavior, as a core symptom of ASD, might improve the diagnostic processes and might help to developing more individualized treatments.

A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers.

Autism spectrum disorder (ASD) refers to a neurodevelopmental condition whose detection still remains challenging in young females due to the heterogeneity of the behavioral phenotype and the capacity of camouflage. The availability of quantitative biomarkers to assess brain function may support in the assessment of ASD. Functional Near-infrared Spectroscopy (fNIRS) is a non-invasive and flexible tool that quantifies cortical hemodynamic responses (HDR) that can be easily employed to describe brain activity. Since the study of the visual phenotype is a paradigmatic model to evaluate cerebral processing in many neurodevelopmental conditions, we hypothesized that visually-evoked HDR (vHDR) might represent a potential biomarker in ASD females. We performed a case-control study comparing vHDR in a cohort of high-functioning preschooler females with ASD (fASD) and sex/age matched peers. We demonstrated the feasibility of visual fNIRS measurements in fASD, and the possibility to discriminate between fASD and typical subjects using different signal features, such as the amplitude and lateralization of vHDR. Moreover, the level of response lateralization was correlated to the severity of autistic traits. These results corroborate the cruciality of sensory symptoms in ASD, paving the way for the validation of the fNIRS analytical tool for diagnosis and treatment outcome monitoring in the ASD population.

Case report: Preemptive intervention for an infant with early signs of autism spectrum disorder during the first year of life.

Autism spectrum disorder (ASD) includes neurodevelopmental conditions traditionally considered to bring life long disabilities, severely impacting individuals and their families. Very early identification and intervention during the very first phases of life have shown to significantly diminish symptom severity and disability, and improve developmental trajectories. Here we report the case of a young child showing early behavioral signs of ASD during the first months of life, including diminished eye contact, reduced social reciprocity, repetitive movements. The child received a pre-emptive parent mediated intervention based on the Infant Start, an adaptation of the Early Start Denver Model (ESDM), specifically developed for children with ASD signs during the first year of life. The child here described received intervention from 6 to 32 months of age, in combination with educational services. Diagnostic evaluations performed at several time points (8, 14, 19, and 32 months) showed progressive improvements in his developmental level and ASD symptoms. Our case study supports the possibility of identifying ASD symptoms and providing services as soon as concerns emerge even during the first year of life. Our report, in combination with recent infant identification and intervention studies, suggests the need for very early screening and preemptive intervention to promote optimal outcomes.

High-Risk Siblings without Autism: Insights from a Clinical and Eye-Tracking Study.

Joint attention (JA)-the human ability to coordinate our attention with that of other people-is impaired in the early stage of Autism Spectrum Disorder (ASD). However, little is known about the JA skills in the younger siblings of children with ASD who do not develop ASD at 36 months of age [high-risk (HR)-noASD]. In order to advance our understanding of this topic, a prospective multicenter observational study was conducted with three groups of toddlers (age range: 18-33 months): 17 with ASD, 19 with HR-noASD and 16 with typical development (TD). All subjects underwent a comprehensive clinical assessment and an eye-tracking experiment with pre-recorded stimuli in which the visual patterns during two tasks eliciting initiating joint attention (IJA) were measured. Specifically, fixations, transitions and alternating gaze were analyzed. Clinical evaluation revealed that HR-noASD subjects had lower non-verbal cognitive skills than TD children, while similar levels of restricted and repetitive behaviors and better social communication skills were detected in comparison with ASD children. Eye-tracking paradigms indicated that HR-noASD toddlers had visual patterns resembling TD in terms of target-object-to-face gaze alternations, while their looking behaviors were similar to ASD toddlers regarding not-target-object-to-face gaze alternations. This study indicated that high-risk, unaffected siblings displayed a shared profile of IJA-eye-tracking measures with both ASD patients and TD controls, providing new insights into the characterization of social attention in this group of toddlers.

Looking for "fNIRS Signature" in Autism Spectrum: A Systematic Review Starting From Preschoolers.

Accumulating evidence suggests that functional Near-Infrared Spectroscopy (fNIRS) can provide an essential bridge between our current understanding of neural circuit organization and cortical activity in the developing brain. Indeed, fNIRS allows studying brain functions through the measurement of neurovascular coupling that links neural activity to subsequent changes in cerebral blood flow and hemoglobin oxygenation levels. While the literature offers a multitude of fNIRS applications to typical development, only recently this tool has been extended to the study of neurodevelopmental disorders (NDDs). The exponential rise of scientific publications on this topic during the last years reflects the interest to identify a "fNIRS signature" as a biomarker of high translational value to support both early clinical diagnosis and treatment outcome. The purpose of this systematic review is to describe the updating clinical applications of fNIRS in NDDs, with a specific focus on preschool population. Starting from this rationale, a systematic search was conducted for relevant studies in different scientific databases (Pubmed, Scopus, and Web of Science) resulting in 13 published articles. In these studies, fNIRS was applied in individuals with Autism Spectrum Disorder (ASD) or infants at high risk of developing ASD. Both functional connectivity in resting-state conditions and task-evoked brain activation using multiple experimental paradigms were used in the selected investigations, suggesting that fNIRS might be considered a promising method for identifying early quantitative biomarkers in the autism field.

A Combined Study on the Use of the Child Behavior Checklist 1½-5 for Identifying Autism Spectrum Disorders at 18 Months.

The capacity of the Child Behavior Checklist 1½-5 (CBCL 1½-5) to identify children with autism spectrum disorder (ASD) at 18 months was tested on 37 children clinically referred for ASD and 46 children at elevated likelihood of developing ASD due to having an affected brother/sister. At 30 months the clinically referred children all received a confirmatory diagnosis, and 10 out of 46 siblings received a diagnosis of ASD. CBCL 1½-5 profiles were compared with a group of matched children with typical development (effect of cognitive level controlled for). The capacity of the CBCL 1½-5 DSM Oriented-Pervasive Developmental Problems scale to differentiate correctly between children diagnosed with ASD and children with typical development appeared dependent on group ascertainment methodology.

Moving Toward Telehealth Surveillance Services for Toddlers at Risk for Autism During the COVID-19 Pandemic.

Since 2016, the project "Early Bird Diagnostic Protocol for Autism Spectrum Disorders (ASD)" funded by the Italian Ministry of Health has been operative at IRCCS Fondazione Stella Maris (FSM), Pisa (IT), with the main aim of developing early age-specific diagnostic protocols by longitudinally enrolling two different populations at risk for ASD: (i) toddlers with older siblings with ASD (FR) and (ii) toddlers referred by a child psychiatrist or pediatrician for suspected ASD (CR). On January 30, 2020, when the World Health Organization declared the outbreak of coronavirus disease 2019 (COVID-19), 136 patients (85 FR; 51 CR; 93 males; 43 females) had been enrolled in the project with 324 completed time points and 64 still missing. Considering both the huge psychological burden on families with toddlers at risk for ASD during the lockdown and the longitudinal studies reporting the positive "surveillance effect" in terms of a better outcome in at-risk toddlers, our priority has been to maintain regular contact and support to enrolled families. To do this, the research team, being authorized for smart-working research activities, has set up a detailed remote surveillance protocol (RSP). The RSP includes three online interviews and one online video registration of parent-child play. In the current community case study, the authors report the telehealth procedure and discuss possible future directions in developing remote assessment and new evaluation modalities for ecological parent-child play video recordings in at-risk populations. Hopefully, the surveillance protocol will further improve our ability to detect risk and activate early tailored intervention.

Cross-sectional imaging of acute gynaecologic disorders: CT and MRI findings with differential diagnosis-part I: corpus luteum and haemorrhagic ovarian cysts, genital causes of haemoperitoneum and adnexal torsion.

Acute gynaecologic disorders are commonly encountered in daily clinical practice of emergency departments (ED) and predominantly occur in reproductive-age women. Since clinical presentation may be nonspecific and physical findings are often inconclusive, imaging is required for a timely and accurate diagnosis. Although ultrasound is the ideal non-invasive first-line technique, nowadays multidetector computed tomography (CT) is extensively used in the ED, particularly when a non-gynaecologic disorder is suspected and differential diagnosis from gastrointestinal and urologic diseases is needed. As a result, CT often provides the first diagnosis of female genital emergencies. If clinical conditions and scanner availability permit, magnetic resonance imaging (MRI) is superior to CT for further characterisation of gynaecologic abnormalities, due to the excellent soft-tissue contrast, intrinsic multiplanar capabilities and lack of ionising radiation.The purpose of this pictorial review is to provide radiologists with a thorough familiarity with gynaecologic emergencies by illustrating their cross-sectional imaging appearances. The present first section will review the CT and MRI findings of corpus luteum and haemorrhagic ovarian cysts, gynaecologic haemoperitoneum (from either ruptured corpus luteum or ectopic pregnancy) and adnexal torsion, with an emphasis on differential diagnosis. Additionally, comprehensive and time-efficient MRI acquisition protocols are provided.

Cross-sectional imaging of acute gynaecologic disorders: CT and MRI findings with differential diagnosis-part II: uterine emergencies and pelvic inflammatory disease.

Due to the growing use of cross-sectional imaging in emergency departments, acute gynaecologic disorders are increasingly diagnosed on urgent multidetector computed tomography (CT) studies, often requested under alternative presumptive diagnoses in reproductive-age women. If clinical conditions and state-of-the-art scanner availability permit, magnetic resonance imaging (MRI) is superior to CT due to its more in-depth characterisationof abnormal or inconclusive gynaecological findings, owing to excellent soft-tissue contrast, intrinsic multiplanar capabilities and lack of ionising radiation.This pictorial review aims to provide radiologists with a thorough familiarity with gynaecologic emergencies by illustrating their CT and MRI appearances, in order to provide a timely and correct imaging diagnosis. Specifically, this second instalment reviews with examples and emphasis on differential diagnosis the main non-pregnancy-related uterine emergencies (including endometrial polyps, degenerated leiomyomas and uterine inversion) and the spectrum of pelvic inflammatory disease.

How Attention to Faces and Objects Changes Over Time in Toddlers with Autism Spectrum Disorders: Preliminary Evidence from An Eye Tracking Study.

Further understanding of the longitudinal changes in visual pattern of toddlers with autism spectrum disorders (ASDs) is needed. We examined twelve 19 to 33-month-old toddlers at their first diagnosis (mean age: 25.1 months) and after six months (mean age: 31.7 months) during two initiating joint attention (IJA) tasks using eye tracking. Results were compared with the performance of age-matched typically developing (TD) toddlers evaluated at a single time-point. Autistic toddlers showed longitudinal changes in the visual sensory processing of the IJA tasks, approaching TD performance with an improvement in the ability to disengage and to explore the global space. Findings suggest the use of eye tracking technology as an objective, non-intrusive, adjunctive tool to measure outcomes in toddlers with ASD.

Diffusion-MR in kidney transplant recipients: is diuretic stimulation a useful diagnostic tool for improving differentiation between functioning and non-functioning kidneys?

OBJECTIVES: To evaluate the effects of diuretic stimulation on Diffusion Weighted Imaging (DWI) and Diffusion Tensor Imaging (DTI) techniques in transplanted kidneys. METHODS: 33 transplanted kidney recipients underwent DWI and DTI sequences before and after furosemide. Cortical and medullary Apparent Diffusion Coefficient (ADC) and Fractional Anisotropy (FA) values were calculated in transplanted kidneys. Patients were divided into two groups according to their estimated glomerular rate filtration (Group A ≥ 60 ml/min and Group B < 60 ml/min). Wilcoxon matched pairs signed rank test was applied to compare pre- and post-furosemide values. ADC and FA values were compared between the 2 groups using a Mann-Whitney U test. Receiver Operating Curves (ROC) analysis was performed to predict normal renal function. RESULTS: Wilcoxon test revealed a statistically significant difference for all pre- and post- ADC and FA values in group B. For group A, a significant difference was found comparing pre- and post-medullary ADC and FA values (p = 0.0151 and p = 0.0054). In the comparison between group A and group B, cortical and medullary mean ADC values were significantly different before and after furosemide. With regard to medullary FA values, a significant difference was found between groups before and after diuretic stimulation (p respectively of 0.004 and 0.042). Comparing cortical FA mean values, no statistical difference was observed between groups before and after furosemide. The highest Area Under Curve values were reported for cortical ADC (0.878) and medullary ADC (0.863) before diuretic bolus. CONCLUSIONS: In transplanted kidneys, furosemide did not improve the differentiation between normal and reduced function.

Validation of the Quantitative Checklist for Autism in Toddlers in an Italian Clinical Sample of Young Children With Autism and Other Developmental Disorders.

Background: The Quantitative Checklist for Autism in Toddlers (Q-CHAT) is parent-report screening questionnaire for detecting threshold and sub-threshold autistic features in toddlers. The Q-CHAT is a dimensional measure normally distributed in the general population sample and is able to differentiate between a group of children with a diagnosis of autism and unselected toddlers. Objectives: We aim to investigate the psychometric properties, score distribution, and external validity of the Q-CHAT in an Italian clinical sample of young children with autism versus children with developmental delay and typically developing children. Method: N = 126 typically developing children (TD), n = 139 children with autism, and n = 50 children presenting developmental delay (DD) were administered the Q-CHAT. Standardized measures of cognitive functions, language, and behaviors were also obtained. Results: The Q-CHAT scores were normally distributed and demonstrated adequate internal consistency and good item to total score correlations. The mean Q-CHAT score in the autism group was significantly higher than those found in the DD sample and TD children. No difference on the mean Q-CHAT score between DD and TD children was found. The accuracy of the Q-CHAT to discriminate between autism and TD was very good. Two different cut-points (27 and 31, respectively) maximized sensitivity and specificity for autism versus TD and DD, respectively. Finally, higher Q-CHAT scores were correlated with lower language and social communication skills. Conclusions: In clinical settings, the Q-CHAT demonstrated good psychometric properties and external validity to discriminate autism children not just from children with typical development but also from children with developmental delay.

Thyroid adenolipoma: a case report.

Generally, small quantities of adipose tissue is present in the thyroid gland. The adenolipoma of the thyroid gland is considered a rare finding. It consists in a benign, encapsulated neoplasm composed of mature adipose tissue and glandular elements. We report a case of a 71 year-old female patient presenting with swelling of the anterior neck and history of airway obstruction. Ultrasound (US) examination showed a bulky multinodular goiter which caused dislocation and compression of the trachea. The scans performed at the level of the isthmic region showed the presence of a hyperechoic oval formation with a homogeneous echostructure and regular contours; these characteristics suggested the lipomatous nature of the nodule. The patient was subsequently subjected to a Computer Tomography (CT) of the neck for a pre-operative balance of the goitre and to exclude extra-thyroid pathologies. The CT scan confirmed the sonographic findings, and the probable adipose nature of the isthmic formation. After the patient has been subjected to total thyroidectomy and histological examination confirmed the diagnosis of adenolipoma.

Bilateral Patterns of Repetitive Movements in 6- to 12-Month-Old Infants with Autism Spectrum Disorders.

Aim: Some patterns of repetitive movements and their frequency have been proved to distinguish infants with Autism Spectrum Disorders (ASD) from infants with Typical Development (TD) and Developmental Delay (DD) from 12 months of life on. The purpose of this study is to investigate if a specific repertoire of repetitive movements is present earlier in life, and if their higher rate and duration could differentiate infants with ASD from infants with DD and TD aged between 6 and 12 months. Method: We conducted a retrospective analysis of video-clips taken from home videos to compare the frequency and the duration of Repetitive Movement Episodes (RMEs) in a sample of 30 children equally distributed among the three groups. Results: Significantly higher total scores in bilateral RMEs with arms, hands, fingers, and lower limbs were found to distinguish ASD infants from both DD and TD infants, with a satisfactory diagnostic efficiency. No significant difference was found between the distributions of unilateral RMEs between ASD and DD/TD. Interpretation: Results indicate the presence at this age of an ASD-specific pattern of bilateral repetitive movements. We hypothesize a continuum between this pattern and the lack of variability in finalized and communicative movements and gestures observed in children with ASD during the second year of life.

Copeman nodule: a case report.

The Copeman nodule is a disease of the subcutaneous soft tissue consisting in subcutaneous adipose tissue herniation through the superficial muscular fascia. A 30-year-old female patient presented with chronic left pain just above the iliac crest. Ultrasound examination showed subcutaneous adipose tissue herniation through the superficial muscular fascia with a hernia gap of 15.9 mm in diameter. Then the patient underwent surgery under local anesthesia with suturing of the hernia gap and immediate regression of chronic pain. Ultrasound can accurately highlight or exclude the presence of Copeman nodule and, in our view, should be used as first examination in patients with superficial chronic pain to the right or left side.

Wilkie's syndrome.

Superior mesenteric artery syndrome, also known as Wilkie's syndrome, is a rare vascular disease caused by the anomalous course of the superior mesenteric artery arising from the abdominal aorta with a smaller angle than the norm (<22°). The reduced angle compresses the structures situated between the aorta and the superior mesenteric artery, such as the duodenum and left renal vein; this can determine painful crises, intestinal subocclusions, and left varicocele. This syndrome can be congenital or acquired. The acquired type is more common and is generally caused by reduced perivascular fat surrounding the abdominal aorta and the superior mesenteric artery; this form is common among anorexic patients that have had a rapid weight loss. We present the case of a female patient who suffered from repeated postprandial vomiting and who lost 12 kg in 4 months. B-mode ultrasound imaging revealed evidence of a reduced angle between the aorta and the superior mesenteric artery, as found in Wilkie's syndrome. After diagnosis, the patient followed a high-calorie diet, and 2 months later an ultrasound scan proved the restoration of the aorto-mesenteric angle as a consequence of increased perivascular fat with regression of symptoms.

Pre-linguistic Vocal Trajectories at 6-18 Months of Age As Early Markers of Autism.

This study explores pre-linguistic vocal trajectories in infants with autism spectrum disorder (ASD) during caregiver-infant interaction. Home videos were obtained from 10 infants with ASD and 10 typically developing infants (TD), covering three time periods: 0-6 months (T1, 47 video sequences), 6-12 months (T2, 47 video sequences), and 12-18 months (T3, 48 video sequences). In total 142 video sequences were analyzed. Vocalizations, long reduplicated babbling, 2-syllable babbling, and first words were investigated longitudinally. Face-gazing was also analyzed, to evaluate the social quality of vocal behaviors. Results show a lower rate of vocalizations in the ASD group at T2, and a lower rate of first words at T3, compared to the TD group. However, the prevalence of non-social babbling, appeared higher in the ASD group. The implications of these findings for screening programs are discussed.

Early detection of autism spectrum disorders: From retrospective home video studies to prospective 'high risk' sibling studies.

In the autism spectrum disorders (ASD) field of research there is scientific consensus on the importance of early identification (and subsequently, of timely treatment) for a better prognosis. For this reason, early diagnosis represents a common challenge for clinicians and an area of great interest for researchers. In the past decades, many studies have focused on identifying subclinical signs of ASD with different types of experimental designs and methods, both retrospectively and prospectively. The purpose of this narrative review is to present changes in methodology, from a historical point of view, highlighting the strengths and weaknesses of different research designs. Conclusions are drawn taking into account potentialities of prospective designs for the study of early predictors of ASD.

Reciprocity in interaction: a window on the first year of life in autism.

From early infancy onwards, young children appear motivated to engage reciprocally with others and share psychological states during dyadic interactions. Although poor reciprocity is one of the defining features of autism spectrum disorders (ASDs), few studies have focused on the direct assessment of real-life reciprocal behavior; consequently, our knowledge of the nature and the development of this core feature of autism is still limited. In this study, we describe the phenomenon of reciprocity in infant-caregiver interaction by analyzing family movies taken during the first year of life of 10 infants with ASD and 9 infants with typical development (TD). We analyzed reciprocal behaviors by means of a coding scheme developed for this purpose (caregiver-infant reciprocity scale (CIRS)). Infants with ASD displayed less motor activity during the first semester and subsequently fewer vocalizations, compared to TD infants. Caregivers of ASD infants showed in the second semester shorter periods of involvement and a reduction of affectionate touch. These results suggest that from the first months of life a nonsynchronic motor-vocal pattern may interfere in different ways with the development of reciprocity in the primary relationship between infants later diagnosed with ASD and their caregivers.