In recent decades some studies described the frequent co-occurrence of celiac disease autoimmunity and overt celiac disease in patients with autism. Therefore, it was suggested that celiac disease ...could play a possible role in the etiopathogenesis of autism spectrum disorder. However, several other studies have not confirmed this association. The aim of the present study was to elucidate the potential association between autism spectrum disorder and celiac disease.
We prospectively collected data from an Italian cohort of 223 children at the time of their clinical diagnosis of autism spectrum disorder in the 2019-2020 period. A serological celiac disease screening was performed and data were available for 196 patients; male (M):female (F) ratio = 4.4:1; median age = 3.6 years; age range = 1.6-12.8 years. Full-blown celiac disease was established according to the diagnostic algorithm of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2012 or 2019 guidelines. Fisher's exact test was used to compare the celiac disease seroprevalence and prevalence in our autism spectrum disorder cohort and in the Italian healthy pediatric population studied by Gatti et al. to highlight the possible differences between the two groups.
A not statistically significant difference between the celiac disease seroprevalence in our autism spectrum disorder cohort (4.08%) and Gatti's Italian healthy group (2.22%) was found, p = 0.0810; OR = 1.871. A similar result emerged for overt celiac disease prevalences (2.24% versus 1.58%, respectively), p = 0.2862; OR = 1.431.
Our data validates a weakness of association between autism spectrum disorder and celiac disease. On the basis of our results, a regular screening for CD in patients with ASD is not recommended to a greater extent than in the general population.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Abstract Objective To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural ...profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. Method 47 DMD boys, aged 2 to 18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features. Patients “at risk” based on questionnaires scores were evaluated by a clinical structured interview using Development and Well Being Assessment (DAWBA) or Autism Diagnostic Observation Schedule (ADOS), as required. Results The 47 enrolled patients, defined with a Full Scale Intelligence Quotient (FSIQ) of 80.38 (one SD below average), and presenting a large and significant difference in FSIQ in relation to the site of mutation along the dystrophin gene (distal mutations associated with a more severe cognitive deficit), were showing Internalizing Problems (23.4%) and Autism Spectrum Disorders (14.8%). Interestingly, an association of internalizing problems with distal deletion of the DMD gene is documented. Conclusion even though preliminary, these data show that the use of validated clinical instruments, that focus on the impact of emotional/behaviour problems on everyday life, allows to carefully identify clinically significant psychopathology.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that can be associated with intellectual disability (ID) and epilepsy (E). The etiology and the pathogenesis of this disorder ...is in most cases still to be clarified. Several studies have underlined that the EEG recordings in children with these clinical pictures are abnormal, however the precise frequency of these abnormalities and their relationship with the pathogenic mechanisms and in particular with epileptic seizures are still unknown. We retrospectively reviewed 292 routine polysomnographic EEG tracings of preschool children (age < 6 years) who had received a first multidisciplinary diagnosis of ASD according to DSM-5 clinical criteria. Children (mean age: 34.6 months) were diagnosed at IRCCS E. Medea (Bosisio Parini, Italy). We evaluated: the background activity during wakefulness and sleep, the presence and the characteristics (focal or diffuse) of the slow-waves abnormalities and the interictal epileptiform discharges. In 78.0% of cases the EEG recordings were found to be abnormal, particularly during sleep. Paroxysmal slowing and epileptiform abnormalities were found in the 28.4% of the subjects, confirming the high percentage of abnormal polysomnographic EEG recordings in children with ASD. These alterations seem to be more correlated with the characteristics of the underlying pathology than with intellectual disability and epilepsy. In particular, we underline the possible significance of the prevalence of EEG abnormalities during sleep. Moreover, we analyzed the possibility that EEG data reduces the ASD clinical heterogeneity and suggests the exams to be carried out to clarify the etiology of the disorder.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
•Methyl ferulate was identified for the first time in the phenolic fraction of millet.•Response Surface Methodology (RSM) applied for basic and acidic hydrolyses.•Acidic hydrolysis gave the best ...yields of extracted flavonoids and phenolic acids.•Total free and bound phenols were obtained in a single extractive step.
Extraction of free and bound phenols from millet in acidic and basic hydrolytic conditions were compared for the first time. Acidic hydrolysis was able to extract the highest amount of total phenolic compounds (up to 178 mg/100 g) while the basic hydrolysis underestimates the phenolic concentration. Our findings pointed out for the first time that methyl ferulate is naturally present as bound phenol in millet. Response Surface Methodology was then applied to both acidic and basic hydrolytic extractive conditions: the acidic procedure, optimized in terms of extractive time and temperature and concentration of the acidic mean, gave the best results, allowing definition of Method Operable Design Region and quantitation of the total amount of phenols in millet samples in a single extractive step. This optimized method is suitable for further accurate investigations of the typical phenols of the numerous varieties of this recently re-discovered minor cereal.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Early identification of autism spectrum disorder (ASD) is crucial for the formulation of effective intervention programs. Language deficits may be a hallmark feature of ASD and language delay ...observed in ASD shows striking similarities to that observed in children with language impairment (LI). Auditory processing deficits are seen in both LI and ASD, however, they have not previously been compared directly using Event-Related Potentials (ERPs) in the two at-risk populations. This study aims to characterize infants at-risk for ASD (HR-ASD) at the electrophysiological level and to compare them with infants at-risk for LI (HR-LI) and controls, to find specific markers with predictive value. At 12-month-old, auditory processing in HR-ASD, HR-LI and controls was characterized via ERP oddball paradigm. All infants were then evaluated at 20 months, to investigate the associations between auditory processing and language/ASD-related outcomes. In both HR-ASD and HR-LI, mismatch response latency was delayed compared to controls, whereas only HR-ASD showed overall larger P3 amplitude compared to controls. Interestingly, these ERP measures correlated with later expressive vocabulary and M-CHAT critical items in the whole sample. These results may support the use of objective measurement of auditory processing to delineate pathophysiological mechanisms in ASD, as compared to LI.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
This study investigated the individual variability in oral tactile sensitivity considering touch, by means of Von Frey Hair monofilaments (VFH) and spatial resolution, using the grating orientation ...test (GOT). The relationships of the two measures with 6‐n‐propylthiouracil (PROP) responsiveness and fungiform papillae density and size were investigated. One hundred and forty‐four subjects (48.6% women, aged 18–30) participated in the study. VFH and GOT thresholds were assessed by three‐down/one‐up staircase method. Responsiveness to 3.2 mM PROP was assessed on the general Labeled Magnitude Scale. Fungiform papillae density (FPD) and size were determined from automated counting. VFH thresholds appeared unsuitable to reveal individual variation in responsiveness to point‐pressure on the tongue. The frequency of GOT thresholds approximated a normal distribution and covered the whole range of variation, thus indicating an ability to measure individual variation in oral tactile sensitivity. No significant linear correlations were found between any of the oral tactile sensitivity measures and PROP responsiveness, FPD total and size class. VFH and GOT thresholds were not significantly associated. Agglomerative hierarchical clustering was used to classify participants for their PROP responsiveness, total FPD and GOT threshold. Three clusters were identified, C1 (n = 67), Cl2 (n = 42), and Cl3 (n = 35), differing for PROP responsiveness and FPD only. Results encourage future studies to explore association between GOT and both perception and preference for different food texture. Furthermore, deeper investigation of individual variability in sensitivity to different types of oral tactile stimuli would be helpful to capture differences in tactile sensitivity among the most sensitive individuals.
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FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
Background
Living with a progressive disease as muscular dystrophy (MD) can be challenging for the patient and the entire family from both emotional and practical point of view. We aimed to extend ...our previously published data about mental health in patients with MDs, also investigating coping profiles of both themselves and their parents. Furthermore, we wanted to verify whether psychological adaptation of patients can be predicted by coping strategies, taking also into account physical impairment, cognitive level and socioeconomic status.
Methods
112 patients with MDs, aged 2–32 were included. Their emotional and behavioural features were assessed through parent- and self-report Achenbach System for Empirically Based Assessment questionnaires and Strength and Difficulties Questionnaires. Development and Well-Being Assessment or Autism Diagnostic Observation Schedule were administered to confirm suspected diagnoses. Coping profile of both parents and patients was assessed through the self-administered New Italian Version of the Coping Orientation to the Problems Experienced questionnaire and its relationship with emotional/behavioural outcome was examined in linear regression analyses.
Results
High prevalence of intellectual disability and autism spectrum disorders was confirmed in Duchenne MD. Despite the high rate of internalizing symptomatology, we did not report higher rate of psychopathological disorders compared to general population. Parents tend to rely more on positive reinterpretation and less on disengagement coping. Avoidance coping, whether used by parents or patients, and ID, predicted increased emotional/behavioural problems.
Conclusions
Psychosocial interventions should address problems of anxiety and depression that people with MDs frequently experience, even through fostering parents’ and childrens’ engagement coping over disengagement coping.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
In order to increase the knowledge of locomotor disturbances in children with autism, and of the mechanism underlying them, the objective of this exploratory study was to reliably and quantitatively ...evaluate linear gait parameters (spatio-temporal and kinematic parameters), upper body kinematic parameters, walk orientation and smoothness using an automatic motion analyser (ELITE systems) in drug naïve children with Autistic Disorder (AD) and healthy controls. The children with AD showed a stiffer gait in which the usual fluidity of walking was lost, trunk postural abnormalities, highly significant difficulties to maintain a straight line and a marked loss of smoothness (increase of jerk index), compared to the healthy controls. As a whole, these data suggest a complex motor dysfunction involving both the cortical and the subcortical area or, maybe, a possible deficit in the integration of sensory-motor information within motor networks (i.e., anomalous connections within the fronto-cerebello-thalamo-frontal network). Although the underlying neural structures involved remain to be better defined, these data may contribute to highlighting the central role of motor impairment in autism and suggest the usefulness of taking into account motor difficulties when developing new diagnostic and rehabilitation programs.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Feeding/behavior problems are highly prevalent in autistic children. This study aimed to explore the interplay between autistic features, sensory processing patterns, emotional/behavioral ...difficulties, and feeding problems in children with a clinical diagnosis of autism spectrum disorder. Ninety-nine children aged 1.5–5 years were assessed using the Children’s Eating Behavior Inventory (CEBI), the Child Behavior Checklist, the Revised Sensory Profile—Second Edition (SP-2), and the Food Frequency Questionnaire. The sample was divided into two subgroups based on the presence of feeding behavior problems as rated by parents on the CEBI. Children with feeding problems showed more severe internalizing symptoms and were more reactive to sensory stimuli than children without feeding problems. We also found a significant relationship between higher levels of autistic features and greater feeding behavior problems. A mediation analysis model indicated that this relationship was mediated by sensory processing, as reflected by SP-2 quadrants scores. Although preliminary, these findings suggest that children with higher levels of autistic features could be at greater risk of developing feeding behavior problems only if they also have a higher sensory sensitivity to environmental stimuli.
Lay abstract
This study adds to a growing body of research documenting feeding problems in autistic children. Our results indicate that children aged 1.5–5 years with feeding problems may present with elevated internalizing difficulties and alterations in sensory processing when compared to same-age children without feeding problems. Our study also proposes that sensory processing may be an important, mediating factor in the relationship between autism features and feeding problems. The present work suggests, therefore, that implementers should thoroughly consider the sensory profile of autistic children prior to intervening on feeding behaviors. In particular, based on these preliminary findings, feeding interventions could benefit from environments designed to support children who can find them noisy and overwhelming.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Notwithstanding several research efforts in the past years, robust and replicable molecular signatures for autism spectrum disorders from peripheral blood remain elusive. The available literature on ...blood transcriptome in ASD suggests that through accurate experimental design it is possible to extract important information on the disease pathophysiology at the peripheral level. Here we exploit the availability of a resource for molecular biomarkers in ASD, the Italian Autism Network (ITAN) collection, for the investigation of transcriptomic signatures in ASD based on a discordant sibling pair design. Whole blood samples from 75 discordant sibling pairs selected from the ITAN network where submitted to RNASeq analysis and data analyzed by complementary approaches. Overall, differences in gene expression between affected and unaffected siblings were small. In order to assess the contribution of differences in the relative proportion of blood cells between discordant siblings, we have applied two different cell deconvolution algorithms, showing that the observed molecular signatures mainly reflect changes in peripheral blood immune cell composition, in particular NK cells. The results obtained by the cell deconvolution approach are supported by the analysis performed by WGCNA. Our report describes the largest differential gene expression profiling in peripheral blood of ASD subjects and controls conducted by RNASeq. The observed signatures are consistent with the hypothesis of immune alterations in autism and an increased risk of developing autism in subjects exposed to prenatal infections or stress. Our study also points to a potential role of NMUR1, HMGB3, and PTPRN2 in ASD.
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