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I disturbi dello spettro autistico sono caratterizzati da difficoltà nell'interazione socio-comunicativa, dalla presenza di comportamenti e interessi ristretti e ripetitivi. In determinate circostanze, ad esempio durante un periodo di lockdown, quando l'isolamento sociale e il distanziamento diventano obbligatori per tutti, in particolare per le famiglie con un bambino con disturbo dello spettro l'interruzione delle routine quotidiane (scuola, terapia, tempo libero) rischia di minare il lavoro terapeutico e i progressi che faticosamente le famiglie avevano raggiunto fino a quel momento. In questo studio abbiamo monitorato 81 famiglie di bambini con disturbo dello spettro, valutandole prima dell'inizio della pandemia e circa 4 mesi dopo, per verificare quali comportamenti dei bambini fossero peggiorati e quali invece fossero rimasti stabili o anche migliorati. Le famiglie sono state intervistate, a febbraio e luglio 2020, attraverso rating scale standardizzate e i risultati hanno evidenziato un intensificarsi nei bambini di irrequietezza motoria, difficoltà nella regolazione del sonno, mentre non sono emersi peggioramenti nelle condotte autolesive o etero-aggressive, né nelle autonomie personali. Va considerato che tutte le famiglie coinvolte nella presente ricerca erano inserite in percorsi terapeutici e non hanno interrotto il percorso di supporto psicologico (online), con lo specifico obiettivo di sostenerli nel loro ruolo genitoriale nelle fasi più critiche vissute dai bambini, e nel renderli sempre più attivi nei processi di consolidamento delle competenze acquisite dai bambini.

Purpose The assessment of Autism Spectrum Disorders (ASD) in childhood has two essential aspects: the identification of the risk (under 30 months of age) and the definition of a diagnosis that takes into account its core areas as well as further non-specific aspects. The purpose of this paper is to present an approach that considers the combination of clinical evaluation with the use of tools that analyse the various levels of the child’s functioning as fundamental. Design/methodology/approach The comprehensive assessment at the Institute of Ortofonologia in Rome provides the ADOS-2 and the Leiter-R for the evaluation of the symptomatology, the severity level, the non-verbal cognitive functioning and the fluid reasoning; the TCE and the UOI are used to identify, respectively, the child’s emotional skills and the ability to understand the intentions of others, as precursors of the theory of mind. Within this assessment, the Brief-P, the Short Sensory Profile and the RBS are also included for the evaluation of executive functions, sensory pattern and of restricted and repetitive behaviours, as observed by parents. Findings How to define a reliable development profile, which allows to plan a specific intervention calibrated on the potential of the child and on his development trajectory, is described. Two clinical cases are also presented. Originality/value The entire process is aimed both at a detailed assessment of the child’s functioning and at identifying a specific therapeutic project and predictive factors for achieving an optimal outcome.

Background and aims The daily challenges of caring for a child with autism spectrum disorder affect many areas of everyday life and parental well-being, as well as parents’ ability to manage the needs of the family and the child concerned. A better understanding of parents’ perception of their child’s characteristics can allow better support for them and individualize intervention protocols in a more accurate way. The main objective of this study is the evaluation of the perception of stress by parents of children with autism compared to parents of children with specific language impairment. Methods The parents of 87 children aged between 2 and 6 years were included in this study, 34 children with a specific language impairment diagnosis and 53 children with an autism spectrum disorder diagnosis (ASD) or at risk of developing it. They were asked to complete a self-report on perceived stress and rating scales on adaptive/problematic behaviours, executive functions and sensory profile of the child. Results The results reveal that parents of ASD children, compared to the control group, showed significantly higher levels of stress, mainly due to the difficulty of managing unexpected events, the feeling of loss of control over one's life and the fear of not being able to cope with the adversities they were experiences. The most critical area, both for ASD and control group, concern the executive function related to emotional reactions. Conclusions Thus, we argue that the difficulties in self-control, sensory modulation and emotional regulation, represent an element of stress for parents of children with developmental disorders. Implications: Regarding the difficulties of children with ASD, supporting the ways in which caregivers adapt to the signals of children is an important strategy, which has now become a key element of treatments for autism mediated by parents.

Autism is a neurodevelopmental disorder characterized by impairments in social communication and presence of restricted and repetitive patterns of behavior and interests, including abnormal reactions to sensory stimuli. Atypical responses to sensory input are increasingly recognized as a common feature of ASDs. In addition to repetitive patterns of behavior, the inclusion of sensory aspects in the diagnosis of autism in the latest Diagnostic and Statistical Manual of Mental Disorders (DSM-5) is evidence of the prevalence of sensory dysfunctions in this population. There are several tools investigating these areas, mostly rating scales that, far from wishing to replace other methods, allow a better understanding of the alterations presents and help in defining clinical picture and individual trajectory so improving diagnosis and intervention. The purpose of this study was to investigate the relation between sensory and repetitive behavioral characteristics of a sample of 50 preschool children with ASD measured with the Short Sensory Profile and the Repetitive Behavior Scales-Revised. Results are consistent with previous researches describing the co-occurrence of repetitive behaviors and sensory response abnormalities in the ASD population. We found evidence to support that the most frequently dysfunctional sensory areas in ASD children regard tactile hypersensitivity, auditory filtering, hyporeactivity and low energy/weak; while among repetitive behaviors the most common are those stereotyped. Furthermore it emerged that direct assessment with ADOS-2, a gold standard test for ASDs, and indirect assessment with questionnaires converged on the same profiles, so suggesting the usefulness to hold together both ecological and structured observations.

Autism spectrum disorders (ASDs) are a class of neurodevelopmental disorders defined by qualitative impairments in social functioning and communication, often accompanied by repetitive and stereotyped patterns of behaviour’s and interests, with their typical onset during the first three years of life. Recent researches demonstrate that early diagnosis and intervention sensibly improve outcomes. Until now, a limit of the most common therapies has been to get poor results in approaching the relational and emotional difficulties that, finding their origin in the early interactions that the child has with the outside world, must take account of the body as first experiential and communicative channel for the new-born. Although the current assessment protocols provide for development scales and observation of motor skills, do not yet exist studies aimed at identifying characteristic psychomotor profiles and too little attention is paid to bodily dimension in therapeutic terms. The purpose of present paper is to examine the psychomotor profiles of 61 children diagnosed with ASD, analyse their specifies and correlations with symptoms and cognitive development. Results show that children with more severe impairment have greater troubles in modulating their body, in attention, in spatial organization, in symbolic play, in motor behaviour’s, starting from imitation, and in communication, even from the most archaic mode, namely the tonic dialogue. Findings, supported by what has already been published on the effectiveness of early developmental-relationship-bodily based approach with ASD children, support the idea that psychomotor area should represent an essential element in childhood rehabilitative therapies, especially in autism, where it is necessary to start from body and experience intended as a solid foundation on which build cognitive and social skills

The article aims to highlight some predictive indicators of improvement in ADOS scores in a group of 49 children with Autism Spectrum Disorders. For this purpose we created a specific protocol named T.U.L.I.P. that, using the Fluid Reasoning of the Leiter-R, the presence of Emotional Contagion (TCE) and the ability to understand the intentions of the others (UOI) as predictive indicators, can identify a category of autistic children who positively respond to treatment and improves the autistic symptomatology. The children who at the intake had predictive indicators of Emerging or Present UOI and TCE improved their autistic symptomatology with therapy and some of them (those with Present indicators) positively changed their ADOS diagnosis. In pre-school children, or in the first year of their schooling, the assessment of cognitive and social components shows that relational skills have a greater importance in predicting the decrease of the ADOS scores. The presence of predictive indicators, especially on the emotional response and the ability to understand the intentions of the others, also helps to work through a developmental- relational approach that activates in children their existing potentialities to get improvements even in the cognitive functioning. The Social Affection component of the ADOS-2 correlates with predictive indicators and accounts for an intervention targeted to the emotional dimension.

This study examines the context of executive functioning in preschool children with Autism Spectrum Disorders (ASDs) and verifies the degree of agreement between the compilation of the Behavior Rating Inventory of Executive Functions-Preschool Version (BRIEF-P) by parents and therapists. To this end, parents and professionals of 46 ASD children aged between 24 and 71 months completed the BRIEF-P in order to highlight the level of agreement between these two different evaluators and then investigate the correlations between executive functions impairment, the degree of autistic symptomatology, the level of cognitive development, the chronological age and the therapy duration. The results showed that parents tend to underestimate the impairment of executive functions in ASD children compared to what estimated by specialized operators. A low level of agreement was found between the two evaluators. Moreover, both for parents and professionals, the EF impairment was not related to the severity of autistic symptoms, assessed with the ADOS-2, while it was correlated to cognitive development in professional evaluations, and to chronological age and therapy duration in parental evaluations. These results indicate that, even if among the pathogenic assumptions about ASDs there has been included also that of the EF impairment, this, if present, does not correlate with the severity of autistic symptoms. With regard to cognitive development, the greater correlation between cognitive and executive impairment seems to be rather obvious. The use of the BRIEF-P completed by parents allows them a greater awareness but does not add clinical data to the diagnosis.

Background: Children with autism spectrum disorder show a deficit in neurobiological processes. This deficit hinders the development of intentional behavior and appropriate problem-solving, leading the child to implement repetitive and stereotyped behaviors and to have difficulties in reciprocal interactions, empathy and in the development of a theory of mind. The objective of this research is to verify the effectiveness of a relationship-based approach on the positive evolution of autistic symptoms. Method: A sample of 80 children with autism spectrum disorder was monitored during the first four years of therapy, through a clinical diagnostic assessment at the time of intake and then in two follow-up. Results: The results showed that through the Autism Diagnostic Observation Schedule it is possible to assess the socio-relational key elements on which the therapy is based. There was evidence, in fact, of significant improvements after two and four years of therapy, both for children with severe autistic symptoms and for those in autistic spectrum. Conclusions: Socio-relational aspects represent the primary element on which work in therapy with autistic children and can be considered as indicators of a positive evolution and prognosis that will produce improvements even in the cognitive area.

Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG demonstrated improvement in epileptiform activity, associated with behavioural improvement in disinhibition, aggression and coprolalia. Though typically avoided in SSADHD due to inhibitory effects on any residual enzymatic activity, valproate was effective and safe in our patient. Sodium valproate has previously demonstrated therapeutic utility in SSADHD, but the use of the magnesium conjugate has not been reported. Epilepsy remains well controlled in our patient, with concomitant improvements in behavioural symptoms . Our results suggest that MgVPA intervention may have utility in selected cases of SSADHD

Psychomotor development is a maturational process that in the early years of life enables the child to acquire postural, motor, cognitive, communicative and relational skills and abilities. It is a continuous progress, essentially dependent on the maturation of the central nervous system (CNS), with variable timing and conditions for each child, but where is possible to identify the "stages" that are achieved in a similar sequence [1-6]. Knowledge of this "normal" development is needed to identify the early indicators of risk and to enable a project of "Care" which has as its objective the support of the child and its potential. What was said can only occur in a network that sees Care and Rehabilitation Centers, Hospital and Territory, Pediatricians, School and Parents in close collaboration. The therapeutic alliance Pediatrician-Child neurologist and psychiatrist-Parents is a key element for the evaluation and monitoring of the neurobehavioral development of the child and for the opportunity to do prevention. Through early diagnosis passes the opportunity to identify action habilitation / rehabilitation plans involving effective child and family, improving the knowledge of the natural history of specific neurodevelopmental disorders; ultimate goal is to guide the institutions on health policy interventions that enable an effective and efficient operation of the network [2]. The pathologies of language and movement are a "range of possibilities" with different gradations in the expressiveness, mirror of developmental system and brain mapping thatunderlies it, as well as the genetic control, we often see in comorbidity in different "individual trajectories”. Therefore about Autism Spectrum Disorders, specific learning disorders or dyspraxia, is to identify a large chapter with transitional symptom patterns that change in attitude and somehow coexist with variable expressivity in relation to the multigenic neurodevelopmental and environmental control that modulates them [3,4] Is appropriate a reflection on broad spectrum screening models that, from the identification of early indicators of risk in the first years of life, allowing us to change the traditional model of rehabilitation of the child in relation to neurobiological model and individual evolutionary characteristics whose language and movement are an expression [5].