Attività scientifica

Contributi a congressi nazionali

Titolo: Andare al museo rende felici: studio pilota con persone con disabilità cognitiva presso il Museo Teatrale alla Scala (2018)

Autore: Annamaria Ravagnan 1, Antonia Castelnuovo 2, Enzo Grossi 2

Info: Accepted at Strategie partecipative per i musei. Opportunità di crescita, ICOM (International Council of Museums) Torino, 16-17 Novembre

abstract

 I musei sono una risorsa sotto sfruttata per interventi di sanità pubblica e di promozione della salute, mentre gli istituti e i luoghi della cultura potrebbero essere particolarmente rilevanti per le persone con disturbi neuro-psichiatrici. 

Recenti studi hanno dimostrato che i pazienti affetti da deficit cognitivo di varia natura sono in grado di percepire stimoli estetici di bellezza artistica e che rendere accessibile l’arte ai pazienti con disabilità mentale può offrire vantaggi potenziali come ad esempio maggiore autostima, stimolazione mentale e maggiori interazioni sociali. 

Negli ultimi anni molti musei hanno definito progetti specifici per persone con problemi di salute mentale. Sebbene la parola benessere sembri essere onnipresente, esistono pochissime indicazioni sulla metodologia da adottare per rilevare eventuali effetti benefici nel contesto quotidiano e ciò costituisce la principale difficoltà nella misurazione dell’impatto. 

Scopo di questa esperienza pilota intrapresa dall’Istituto Villa Santa Maria in stretta collaborazione con il Museo Teatrale alla Scala è rilevare la fattibilità di una fruizione speciale dell’esperienza museale in soggetti sia minorenni che adulti affetti da differenti forme di patologie neuro-psichiatriche. Gli elementi innovativi del progetto sono: 

a) la costruzione di un programma personalizzato di visita al museo da parte di un mediatore culturale con specifica preparazione; 

b) una esperienza di ascolto musicale condotta dal maestro Fabio Sartorelli e dai suoi allievi con un riadattamento del Flauto Magico di Mozart; 

c) la misurazione dell’impatto di questa esperienza sul benessere psicologico attraverso l’uso di una scala analogica cromatica continua presentata come regolo di 10 cm. Il regolo presenta un cursore scorrevole che il soggetto è invitato a posizionare al livello corrispondente al suo attuale benessere psicologico percepito. A posizionamento avvenuto il valore è registrato in un apposito data base per elaborazioni statistiche successive. 

Sono stati coinvolti nello studio tre gruppi di soggetti con disabilità mentale di varia eziologia: 

1. 6 adolescenti con autismo (età 10-17 anni) 

2. 5 adolescenti con psicopatologia (età 12-17 anni) 

3. 6 adulti con deficit intellettivo di varia natura (31- 62 anni) 

 

La misurazione del wellbeing nei giorni precedenti ha permesso di stabilire un livello di wellbeing basale di riferimento, con un valore medio di 66 nel gruppo autismo, 58 nel gruppo psicopatologia e 60 nel gruppo adulti. La misurazione del wellbeing subito dopo l’esperienza estetica ha messo in evidenza un forte impatto emotivo con un incremento statisticamente significativo del benessere psicologico momentaneo che è risultato del 37% nel gruppo autismo; del 64% nel gruppo psicopatologia e del 50% nel gruppo adulti. Questo studio pilota conferma che l’arte è in grado di sollecitare parti del cervello che rimangono intatte anche dopo l’insorgere di patologie neuro-psichiatriche e che la misurazione del wellbeing momentaneo è attuabile anche in presenza di un deficit cognitivo importante. 

 

 

GOING TO THE MUSEUM MAKES YOU HAPPY: A PILOT STUDY WITH SUBJECTS WITH COGNITIVE DISABILITY AT THE LA SCALA THEATER MUSEUM 

 

Museums are a under exploited resource for public health and health promotion interventions, despite the fact that institutions and places of culture could be particularly relevant for people with neuro-psychiatric disorders. 

Recent studies have shown that patients with cognitive impairment of various kinds are able to perceive aesthetic stimuli of artistic beauty and that making art accessible to patients with mental disability can offer potential benefits such as greater self-esteem, mental stimulation and greater social interactions. 

In recent years, many museums have defined specific projects for people with mental health problems. Although the word “wellbeing” seems to be omnipresent, there are very few indications on the methodology to be adopted to detect any beneficial effects in the daily context and this constitutes the main difficulty in measuring the impact. 

The aim of this pilot experience undertaken by the Villa Santa Maria Institute in close collaboration with the Museo Teatrale alla Scala is to highlight the feasibility of a special use of the museum experience in both adolescents and adults subjects suffering from different forms of neuro-psychiatric diseases. The innovative elements of the project are: 

a) the construction of a personalized program of museum visits by a cultural mediator with specific preparation; 

b) a musical listening experience conducted by maestro Fabio Sartorelli and his students with a re-adaptation of Mozart's Magic Flute; 

c) the measurement of the impact of this experience on psychological well-being through the use of a continuous chromatic analogue scale presented as a 10 cm rule. The ruler has a sliding cursor that the subject is invited to position at the level corresponding to his current perceived psychological well-being. After positioning, the value is recorded in a specific database for subsequent statistical processing. 

Three groups of subjects with mental disability of various etiology were involved in the study: 

1. 6 adolescents with autism (age 10-17) 

2. 5 adolescents with psychopathology (age 12-17 years) 

3. 6 adults with intellectual impairment of various kinds (31-62 years) 

The wellbeing measurement in the previous days allowed to establish a baseline wellbeing level of reference, with an average value of 66 in the autism group, 58 in the psychopathology group and 60 in the adult group. Measuring wellbeing immediately after the aesthetic experience highlighted a strong emotional impact with a statistically significant increase in the momentary psychological well-being that was 37% in the autism group; of 64% in the psychopathology group and 50% in the adult group. This pilot study confirms that the art is able to solicit parts of the brain that remain intact even after the onset of neuro-psychiatric pathologies and that the measurement of the momentary wellbeing is feasible even in the presence of an important cognitive deficit. 

 

Notes:

1 ICOM Italia
2 Fondazione Villa Santa Maria

Titolo: Tip-toe behavior in Autism Spectrum Disorder subjects: quantitative assessment during standing and walking (2018)

Autore: Giulio Valagussa1,3,*, Valeria Balatti1, Luca Trentin1, Alessio Signori2, Alessandro Grassi1, Enzo Grossi1

Info: Accepted at Congresso SIF (Società Italiana Fisioterapia) 2018, Istituto Clinico Humanitas, Rozzano (MI), 20 ottobre

url

abstract

 

Background and aims 

Twenty-thirty percent of individuals with autism walk on their tiptoes[1]. Studies about quantitative assessment of Tip-toe behavior (TTB) are scarce. In a previous study we described three mutually exclusive clinical functional classes of TTB of increasing severity using a qualitative assessment: TTB only during running (TTB1), TTB only during walking and running (TTB2) and TTB during standing, walking and running (TTB3)[2]. The aims of this cross-sectional cohort study are: 1) to quantify TTB during both a static and a dynamic test in an ASD sample; 2) to compare the intensity of TTB in the three TTB clinical functional classes and in a NO-TTB group. 

Methods 

45 ASD subjects (mean age 13,15 years, 40 males) diagnosed according to the DSM V criteria were assessed for the presence/absence of TTB during standing, walking and running using standardized protocol[2]. The quantitative tests were conducted using a standardized video recordings. The quantity of TTB during static and dynamic tests was calculated as percentage of time spent on the tip toes and as the percentage of toe steps. 

Results 

According to the qualitative assessment, 25 ASD subjects resulted not TTB, 3 resulted in TTB class 1, 10 in TTB class 2 and 7 in TTB class 3. During the static quantitative test, the TTB time percentage values was 0.25% in NO-TTB group vs 1.82% in TTB1+2 vs 32,34% in TTB3 (p 

Conclusions

We quantified TTB using a new structured static and dynamic assessment test in our ASD sample. We found significant difference between NO-TTB and the 2 TTB subgroups. The TTB quantity in the static test is correlated with TTB quantity in the dynamic test. 

Notes:

1 Autism Research Unit, Villa Santa Maria Foundation, Tavernerio (Como), Italy;
2 University of Genoa; (3) School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy

Titolo: A prospective cohort study of Tip-Toe Behavior in Autism Spectrum Disorder subjects (2018)

Autore: Giulio Valagussa1,2,*, Valeria Balatti1, Luca Trentin1, Alessandro Grassi1, Enzo Grossi1

Info: Accepted at Congresso SIF (Società Italiana Fisioterapia) 2018, Istituto Clinico Humanitas, Rozzano (MI), 20 ottobre

url

abstract

 

Background and Aim 

About 20-30% of individuals with ASD present tip-toe behavior (TTB)[1]. We described three mutually exclusive clinical functional classes with a different degree of severity: Tip-toe Behavior (TTB) during running (TTB1), TTB during walking and running (TTB2) and TTB during standing, walking and running (TTB3)[2]. Assessing and monitoring TTB in ASD subjects is critical to identify ASD subjects at risk of developing muscle shortening, but systematic observations of the natural history of TTB in ASD sub using standardized assessment are lacking. The aim of this prospective cohort study is to describe the natural history of TTB and NO-TTB ASD subjects at short-medium term. 

Methods 

The inclusion criteria were: an ASD diagnosis according to the DSM V criteria and a diagnosis confirmation based on the ADOS2. The exclusion criteria were: presence of co-morbid diagnoses that would have an impact on gait. The prospective study included 72 consecutive subjects (62 males; mean age: 15,68 years – SD 3,85) present in our Institute. The assessment of presence/absence of TTB during standing, walking and running was done using a standardized assessment[2]. We repeated the same evaluation 12 to 44 months (mean: 29,88 months – SD 8,86; median: 34,5 months) after the first observation. 

Results 

During the first TTB assessment 49 subjects resulted Non-TTB (68,1%) and 23 resulted TTB. In TTB group, 4 subjects were TTB1, 9 subjects were TTB2 and 10 subjects were TTB3. At follow up 7 out of 23 TTB subjects (30%) changed the severity class, 5 decreasing and 2 increasing severity (table 1). No one shifted to NO-TTB group. In NO-TTB group 8 subjects (16%) shifted to TTB group (5 in TTB 1 class, 2 in TTB 2 class and 1 in TTB class 3. The ADOS calibrated severity score of the converters was not different from non-converters (7,5 – 1,4 SD versus 7,56 – 1,74 SD). 

Conclusions 

TTB behavior can change over time in ASD subjects. In an average time of two years 30% of TTB subjects change their severity class and 16% of Non-TTB subjects become TTB. This finding underlies the importance of close monitoring of TTB with standardized protocols. 

Notes:

1 Autism Research Unit, Villa Santa Maria Foundation, Tavernerio (Como), Italy
2 School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy

Titolo: Cammino sulle punte e autismo: pattern di presentazione e possibili meccanismi patogenetici (2018)

Autore: Enzo Grossi

Info: 3° Convegno nazionale AIRA, Roma, 26-27 marzo

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Titolo: Valutazione del controllo posturale in bambini con ASD utilizzando la Pediatric Balance Scale e il Fall Screen Assessment System: risultati di uno studio pilota (2017)

Autore: Miriam Mazzucchelli, Valentina Gariboldi, Giulio Valagussa, Erica Terragni, Luca Trentin, Davide Mauri, Cecilia Perin, Cesare Cerri, Enzo Grossi

Info: Congresso Nazionale Medici in Medicina Fisica e Riabilitativa, Bologna, 14 settembre

abstract

Questo studio conferma che i soggetti con ASD sono quotidianamente esposti a un maggior rischio di caduta, probabilmente a causa di un deficit di elaborazione ed integrazione degli impulsi sensitivi e motori.

Titolo: Standing, walking and running acquisition milestones in Autism Spectrum Disorder subjects with Tip-Toe Behavior: a cohort observational study (2017)

Autore: Giulio Valagussa, Valeria Balatti, Luca Trentin, Enzo Grossi - Autism Research Unit, Villa Santa Maria, Tavernerio - Como, Italy.

Info: Congresso Scientifico AIFI (Associazione Italiana Fisioterapisti) Roma, 12-13 ottobre

abstract

BACKGROUND AND PURPOSE The literature confirms that 20-30% of individuals with autism walk on their tiptoes1. In a previous study, we found that this behavior transpires not only during walking but also while standing and running, and described three mutually exclusive clinical functional classes2. To our knowledge, systematic observations about the natural history of Tiptoe Behavior (TTB) in Autism Spectrum Disorder (ASD) subjects in the literature are scarce. Specifically, it is not known if TTB parallels the acquisition of standing, walking and running milestones or appears later on and if these milestones are delayed compared to normally developing peers. The aims of this retrospective study are: to describe when TTB ASD subjects started to stand, walk and run compared to both normal population3-4 and non-TTB ASD subjects; to observe if TTB was exhibited simultaneously or subsequently to the acquisition of standing, walking and running milestones. MATERIALS AND METHODS Our study sample included 36 ASD subjects (34 males; mean age: 14.3 years – SD 3.22) diagnosed with Autism according to the DSM V criteria, confirmed through ADOS 2 and under observation at our Institute. We asked all the subjects’ parents to answer a structured interview. We collected information about standing, walking and running milestones. We also asked if and when TTB was observed and when it eventually stopped. Another therapist confirmed the presence of TTB using a standardized method we described in a previous study2. RESULTS We found that: - Eightheen subjects (50%) never showed TTB, 13 TTB subjects (36%) present TTB at least in one of three previous described situations, while 5 subjects (14%) had TTB in the past but it later stopped. - The mean age of standing acquisition of the ASD sample resulted in line with the normative values3, without significant differences between TTB and non-TTB subjects (table 1). - The mean age of walking acquisition of the ASD sample resulted higher compared to the normative value3 [16.4 months – SD 5.55 (9-30 range) vs 12.1 months – SD 1.8 (9-18 range)] without significant differences between TTB and non-TTB subjects. - The mean age of running acquisition in the ASD sample resulted higher compared to the normative value4 [26.55 months – SD 14.5 (12-72 range) vs 15 months – SD 11.8 (13-20 range)] without significant differences between TTB and non-TTB subjects (absolute difference in favor of non-TTB). - We observed that Tip-toe behavior in TTB subjects started significantly later than the acquisition of standing and walking milestone (table 2). Conversely, there was no significant difference between running acquisition and the start of TTB while running. CONCLUSION - TTB subjects exhibit this behavior significantly later to the acquisition of standing and walking milestones while there is no significant difference between running acquisition and the start of TTB while running. - No significant difference in the age of acquisition of standing, walking and running milestones between TTB and non-TTB ASD subjects was found. - The ASD sample showed a delay in walking and running acquisition compared to the normative values.

Titolo: Postural control assessment in Autism Spectrum Disorder (ASD) subjects using the Pediatric Balance Scale and the Fall Screen Assessment System: results from a pilot study (2017)

Autore: Giulio Valagussa1,2, Luca Trentin1, Erica Terragni2, Cesare Cerri2, Valentina Gariboldi2, Cecilia Perin2, Davide Mauri1, Enzo Grossi1 1. Autism Research Unit – Villa Santa Maria Institute, Tavernerio (Como), Italy 2. School of Medicine and Surgery, Univ

Info: Congresso Scientifico AIFI (Associazione Italiana Fisioterapisti) Roma, 12-13 ottobre

abstract

BACKGROUND AND PURPOSE The maintenance of balance depends on the interaction of multiple sensory, motor and integrative systems (i.e. vestibular function, vision, peripheral sensation, muscle force and reaction time). A deficit in any one of these factors may increase the risk of falling. A key sensorimotor control process affected by ASD is the management of upright standing. Few studies on this topic are available in the literature; most of them used instrumental approaches, neglecting the assessment of different balance components. The aims of this pilot study are: 1) to assess balance in a group of ASD subjects using the Pediatric Balance Scale (PBS); 2) to assess balance in the same sample, using the Fall Screen Assessment System (FSAS), comparing the results with a control group of normally developing children. MATERIALS AND METHODS The ASD sample included nine individuals diagnosed according to the DSM V criteria and confirmed through ADOS 2; control group included sixteen healthy age subjects. We employed: a) FSAS, a multi-item scale internationally validated on adult subjects; b) PBS, a multi-item functional assessment tool exploring functional balance. RESULTS The two groups resulted homogeneous as regards age distribution (ASD group mean age 12.2 years - 4.29 SD vs control group mean age 12.8 years - 3.8 SD). We found that five (56%) ASD subjects showed a balance deficit as detected by the PBS (scores below the normality cut-off) and were also positive for the FSAS. Two more subjects were found at risk of falling only by FSAS. FSAS was easily applicable to children and adolescents and showed a statistically significant difference (p = <0.05) between the two groups in the following tests: visual contrast sensitivity, touch sensitivity, ankle dorsiflexion force, knee extension and flexion force, reaction time for hand, and all postural sway tests (table 1), thus evidencing an overall postural control impairment in ASD. CONCLUSIONS - This study confirms that ASD individuals are at major risk of falling. This is attributable to an altered integration and elaboration of sensory and motor information. - FSAS integrates the information derived from standard clinical assessment, and can be suggested as a complementary tool in the management of ASD. - Moreover, by directly assessing an individual’s physiological abilities, intervention strategies can be implemented to target areas of deficit. Further studies are necessary to confirm the results of this pilot study.

Titolo: Italian Cross-Cultural Adaptation of the Short Sensory Profile (2017)

Autore: Alessandra Nale, Rita Pirovano, Giulio Valagussa, Enzo Grossi

Info: Congresso Scientifico AIFI (Associazione Italiana Fisioterapisti) Roma, 12-13 ottobre

abstract

BACKGROUND AND PURPOSE Autism is a neurodevelopmental disorder characterized by widespread abnormalities of reciprocal social interactions and communication, as well as severely restricted interests and highly repetitive behavior. Sensory processing problems are reported in children with autism spectrum disorders and are included in the diagnosis of autism in the latest Diagnostic and Statistical Manual of Mental Disorders (DSM-5). One of the most useful tools to assess sensory characteristics in ASD individuals is the Short Sensory Profile (SSP), but no Italian version of this instrument is currently available. The aim of this study is to validate an Italian cross-cultural adaptation of the Short Sensory Profile1. MATERIALS AND METHODS Following the guidelines for the process of cross-cultural adaptation of self-report measures2 we did a translation of the process (two independent translators) followed by a back-up translation (two independent translators) and a final review in which full agreement was reached by the study team. We also did a pilot study to apply the SSP in a sample of 46 Italian ASD individuals (7 females; 39 males; mean age 163.5 months – SD 34.3 months, range: 87 – 226 months). The ASD diagnosis was done using the DSM V criteria, and it was confirmed using the ADOS 2. We chose capable special education teachers who carefully and fully reported their behaviors. RESULTS The SSP mean total score of the sample was 147.65 (range 119-176) pointing out the presence of sensory function impairment (the expected value ranges between 155 and 190) (table 1). Thirty-two percent (N = 15) of the participants obtained a typical performance total score (range 155-190), 30.4% (N = 14) obtained a probable difference score (range 142-154), and 37% (N = 17) obtained a definite difference score (range 38-141). The sensory function impairment resulted particularly severe in two of the Scale sections: “Underresponsive/Seeks Sensation” (8.7% belonging to typical performance score, 26.1% belonging to probable difference score, 65.2% belonging to definite difference score) and “Auditory Filtering” (17.4% belonging to typical performance score, 39.1% belonging to probable difference score, 43.5% belonging to definite difference score). The section “Low energy / Weak” has a total mean score in the range of probable difference (58.7% belonging to typical performance score, 2.2% belonging to probable difference score, 39.1% belonging to definite difference score). The others sections (“Tactile sensitivity”, “Taste/Smell Sensitivity”, “Movement Sensitivity”, and “Visual Auditory Sensitivity”) have a mean score in the range of typical performance (table 2). CONCLUSIONS - The Short Sensory Profile scale is now validated for use in Italy. - The performance of the scales are in line with findings observed in the SSP literature3. - We confirm the existence of sensory impairments in ASD, particularly expressed as under-responsiveness or seeking stimuli and an increased or decreased response to auditory stimuli.

Titolo: Assessment of global functioning in autism with SDQ and HoNOSCA scales: a pilot feasibility study (2017)

Autore: Katiusha Hall*, Enzo Grossi*, Laura Reale**, Maurizio Bonati** - *Autism Research Unit Villa Santa Maria Institute, Tavernerio, Italy **Laboratory for Mother and Child Health, Department of Public Health, IRCCS – Istituto di Ricerche Farmacologiche Mar

Info: Accepted as poster at XII Edizione Giornate di Neuropsicologia dell'Età Evolutiva; Bressanone, 18-21 gennaio

abstract

The clinical assessment of global functioning in children with autism is essential in order to identify needs and to arrange therapeutic and educational interventions. The aim of this study is to describe the overall clinical autism profile using Strengths and Difficulties Questionnaire (SDQ) and the Health of the Nation Outcome Scales for Children and Adolescents (HoNOSCA), and to assess correlation between the two instruments. The SDQ is a 25-item questionnaire completed by educators useful to screen emotional, behavioral and social problems in children. The HoNOSCA is a 15-item clinical assessment scale completed by a clinician which measures global functioning through 4 different areas: behavioral, impairment, symptoms, social functioning. Ten consecutive patients with low-functioning autism (age 5-14 years) observed at Villa Santa Maria Institute have been enrolled. The SDQ subscales with abnormal mean scores were “peer relations” and “pro-sociality”, while in the HoNOSCA the social functioning domain resulted as the most problematic area. HoNOSCA behavioral and social functioning scores were highly correlated with emotional difficulties (r = 0.71; p 0.02), and peer relationships of SDQ (r = 0.55; p = 0.09), and with behavioral problems of SDQ (r = 0.52; p = 0.12) respectively. These association were also confirmed by a map projection using the minimum spanning tree method. In conclusion SDQ and HoNOSCA can be a simple and efficient way to screen children and adolescents with low-functioning autism. They could help to recognize co-occurring disorders and reduce their impact on social functioning and peer relationship domains with appropriate interventions.

Titolo: Postural Control Assessment in ASD Children Using the Pediatric Balance Scale and the Fall Screen Assessment System: Results from a Pilot Study (2016)

Autore: Valentina Gariboldi**, Giulio Valagussa*, **, Erica Terragni**, Luca Trentin*, Davide Mauri*, Cecilia Perin**, Cesare Cerri**, Enzo Grossi* - * Autism Research Unit, “Villa S. Maria” Institute, Tavernerio, Italy ** School of Medicine and Surgery – Un

Info: La Riabilitazione delle Funzioni Adattive in Età Evolutiva; Brescia, 12-13 dicembre

abstract

Background ASD in children is associated with impairments in fine and gross motor skills, planning and coordination of movement, and praxis. ASD affects in particular the basic sensorimotor control process of upright standing. Little evidence is available on this topic in the literature, mostly neglecting the assessment of different balance’s constituents in favor of simpler and functional approaches. The aim of this study is balance’s assessment in a group of ASD subjects: 1) using the Pediatric Balance Scale (PBS); 2) using the Fall Screen Assessment System (FSAS), matching the results with a control group of normally developing subjects. Methods The study sample included 9 ASD subjects and 16 healthy subjects matched by age. ASD subjects were diagnosed according to the DSM V criteria. Tests used were: 1) PBS; 2) FSAS, a multi-item mean which explores sensorimotor performances, validated for adult subjects. Results The two groups were comparable as regards age distribution. Five ASD subjects (56%) showed a balance deficit at the PBS and were also positive for the FSAS. Two more subjects appear to be at risk of falling only by the FSAS. FSAS application resulted to be easily feasible both for children and adolescents. A statistically significant difference (p<0.05) between the two groups was found for: visual contrast sensitivity, touch sensitivity, ankle and knee forces, reaction time for hand and sway tests, evidencing an overall postural control impairment in ASD. Conclusion This study confirms that ASD subjects are at major risk of fall in everyday life, probably due to a deficit in processing of sensory and motor inputs. We suggest FSAS as a complementary tool in ASD’s management since it directly assesses the individual’s physiological abilities as regards balance. In this way intervention strategies can be improved towards areas of deficit. Further studies are necessary to confirm the results of this pilot study.

Titolo: Partecipazione delle persone con disabilità psichica alle attività culturali. Un esempio di formazione e di offerta dei musei lombardi (2016)

Autore: Isabella Tiziana Steffan, Annamaria Ravagnan

Info: XI Congresso Nazionale SIE (Società Italiana di Ergonomia); Napoli, 16-18 novembre 2016

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Titolo: Difetti di sviluppo motorio nei bambini con disturbi dello spettro autistico: la relazione con le variabili cliniche esplorata attraverso la statistica delle reti neurali (2016)

Autore: Francesca Fulceri, Enzo Grossi, Annarita Contaldo, Antonio Narzisi, Raffaella Tancredi, Fabio Apicella, Sara Calderoni, Filippo Muratori

Info: Accettato per la Discussione orale al Congresso AIRA, Roma, 6-7 Dicembre

abstract

Una crescente letteratura riporta che i bambini con Disturbo dello Spettro Autistico (DSA) mostrano precoci atipie di sviluppo nelle abilità grosso e fino motorie. Ad oggi, la relazione tra questi disturbi del movimento e i sintomi nucleari dell’autismo è incerta. La comprensione della natura del difetto motorio nei DSA assume una rilevanza teorica alla luce delle ipotesi che collegano la cognizione sociale alla capacità di predire e comprendere le intenzioni delle azioni motorie degli altri, una abilità correlata all’organizzazione del sistema corticale motorio. Questo studio ha incluso 32 bambini maschi di età prescolare con diagnosi di DSA afferiti all’Istituto Scientifico Stella Maris di Pisa. Tutti i bambini hanno ricevuto una valutazione clinica inclusiva della stima delle abilità cognitive e della gravità dei sintomi autistici. Il livello di sviluppo motorio è stato valutato mediante Peabody Developmental Motor Scales-2 (PDMS-2). La relazione tra le abilità motorie e le variabili di sviluppo, il deficit socio-comunicativo e la presenza di comportamenti ripetitivi è stata esplorata attraverso Il sistema Auto-Contractive Maps, un particolare tipo di rete neurale ideato e sviluppato al centro di ricerche Semeion di Roma, che permette di scoprire la densità probabilistica comune fra ciascuna variabile e tutte le altre e generare una mappa semantica basata sulla teoria dei grafi in cui vi sono espliciti schemi di connessione tra le variabili tenendo conto sia delle relazioni lineari che non lineari. I risultati descrivono che i bambini prescolari con DSA presentano un diffuso difetto delle abilità di sviluppo motorio variabilmente associato sia al difetto socio-comunicativo che alla presenza di comportamenti ripetitivi. In particolare, la gravità del difetto di sviluppo motorio sembra informativa della gravità dei sintomi nucleari dell’autismo e del grado di compromissione del funzionamento cognitivo. La valutazione del profilo di funzionamento motorio dei bambini con DSA potrebbe avere implicazioni non solo nell’ambito del trattamento ma contribuire anche alla definizione di fenotipi clinici e alla comprensione delle caratteristiche nucleari del disturbo. Parole chiave: autismo, motricità, reti neurali

Titolo: Storia naturale del comportamento in punta nei soggetti con disturbo dello spettro autistico (2016)

Autore: Giulio Valagussa, Valeria Balatti, Luca Trentin, Enzo Grossi

Info: Sottomesso al Congresso AIRA, Roma, 6-7 Dicembre

abstract

Il 20-30% degli individui con autismo (ASD) camminano in punta di piedi. In uno studio precedente abbiamo evidenziato questo comportamento anche durante la stazione eretta e la corsa, descrivendo tre patterns clinici con cui questo comportamento si manifesta. Le osservazioni sistematiche sulla storia naturale della comportamento in punta (CIP) nei soggetti ASD sono scarse. In particolare, non è noto se il CIP è contemporaneo all'acquisizione della stazione eretta, del cammino e della corsa o se compare più tardi e se i soggetti ASD con CIP hanno un’acquisizione ritardata di queste tappe rispetto ai soggetti ASD senza CIP e rispetto ai coetanei con sviluppo normale. Per rispondere a queste domande abbiamo condotto uno studio retrospettivo su 36 soggetti ASD (34 maschi; età media: 14.3 anni) seguiti nel nostro Istituto, diagnosticati secondo i criteri del DSM V. Abbiamo raccolto dati riguardo il tempo di acquisizione di alcune tappe di sviluppo e del tempo in cui è cominciato ed eventualmente scomparso il CIP attraverso una intervista strutturata dei genitori. Un altro terapista esperto ha valutato la presenza o meno del CIP utilizzando una metodologia standardizzata descritta in uno studio precedente. Analizzando i dati raccolti abbiamo osservato che l’età media di acquisizione della stazione eretta dell’intero campione (10,92 mesi - DS 3,56; range: 6-24) era in linea con i valori normativi e non presentava differenze tra soggetti con e senza CIP. L’età media di acquisizione del cammino del campione è risultata più alta rispetto alla norma (16.4 mesi (range 9-30) vs 12 mesi (range 9-18)) ma non presentava differenze significative tra soggetti con e senza CIP. L’età media dell’acquisizione della corsa del campione è risultata più alta rispetto alla norma (26.55 mesi (range 12-72) vs 15 mesi (range 13-20)) ma non presentava differenze significative tra soggetti con e senza CIP. Abbiamo inoltre potuto osservare che nei soggetti con comportamento in punta vi era una differenza statisticamente significativa (p < 0.01) tra il tempo dell’acquisizione della stazione eretta e del cammino ed il tempo di inizio del CIP in tali attività. Al contrario, non vi era alcuna differenza significativa tra l'acquisizione della corsa e l'inizio del CIP durante tale attività. Il nostro campione ha mostrato un ritardo nell’acquisizione del cammino e della corsa rispetto ai valori normativi. Non sembrano però esserci differenze nel tempo di acquisizione della stazione eretta, del cammino e della corsa tra soggetti con e senza CIP. I soggetti con CIP manifestano tale comportamento significativamente più tardi rispetto all’acquisizione della stazione eretta e del cammino. Parole chiave: cammino in punta; stazione eretta; storia naturale

Titolo: Adattamento transculturale del questionario Short Sensory Profile (2016)

Autore: Alessandra Nale, Rita Pirovano, Giulio Valagussa, Enzo Grossi

Info: Sottomesso al Congresso AIRA, Roma, 6-7 Dicembre

abstract

Nel DSM V la diagnosi di disturbo dello spettro autistico (ASD) include nei criteri diagnostici la presenza di disfunzioni sensoriali. Uno degli strumenti più utilizzati in letteratura per valutare gli aspetti sensoriali negli individui con ASD è il questionario Short Sensory Profile (SSP) (Dunn, 1999), ma ad oggi non è disponibile una versione italiana di questo strumento. Seguendo le linee guida per il processo di adattamento transculturale delle misure di self-report (Beaton et al., 2000) è stata attuata una validazione linguistica dello strumento (traduzione con due traduttori indipendenti; ri-traduzione con 2 traduttori indipendenti; revisione finale del testo attraverso un processo di confronto e accordo tra le persone coinvolte). Abbiamo poi utilizzato la versione italiana in uno studio pilota, in un campione di 46 individui ASD (7 femmine, 39 maschi; età media 163,5 mesi - SD 34.3; range mesi: 87 - 226 mesi), diagnosticati secondo i criteri del DSM V e confermati con la scala ADOS 2. Il questionario SSP è stato compilato dall’educatore professionale di riferimento. Il questionario ha evidenziato la presenza di una disfunzione sensoriale nel campione (punteggio totale medio di 147.65 (range 119-176) vs 172.5 di valore medio normativo (range 155-190)). Il 32% (n = 15) dei partecipanti ha riportato un punteggio nel range di normalità (155-190), il 30,4% (n = 14) un punteggio di differenza probabile (142-154) ed il 37% (n = 17) di differenza certa (38-141). Le maggiori disfunzioni sensoriali sono emerse nelle sezioni "Iporesponsività/Ricerca di sensazioni” (l’8,7% dei soggetti ha avuto un punteggio nella norma, il 26,1% una differenza probabile, il 65,2% una differenza certa) e "Filtraggio uditivo" (il 17,4% dei soggetti ha avuto un punteggio nella norma, il 39,1% una differenza probabile, il 43,5% con differenza certa). Nella sezione "Bassa energia/Debolezza” i soggetti hanno avuto un punteggio medio totale nel range della differenza probabile (58,7% dei soggetti con un punteggio nella norma, 2,2% con differenza probabile, 39,1% con differenza certa). Le altre sezioni ("Sensibilità olfattiva e gustativa”, “Sensibilità tattile", "Sensibilità al movimento " e "Sensibilità visiva e uditiva”) hanno evidenziato un punteggio medio nella norma. L'andamento delle scale nel nostro campione sembra essere in linea con i risultati della letteratura. Questo studio conferma la presenza di una disfunzione sensoriale importante nel 37% dei soggetti ASD, espressa in particolare in termini di “iporesponsività agli stimoli / ricerca di sensazioni” e come aumentata o diminuita risposta agli stimoli uditivi. Parole chiave: disfunzione sensoriale; iporesponsività; adattamento transculturale

Titolo: La bellezza che dona salute (2016)

Autore: Enzo Grossi

Info: Convegno: La bellezza della ricerca -la ricerca della bellezza. Pisa, Openday della ricerca, 29 Aprile 2016

Titolo: Approccio comunicativo-relazionale nelle diverse fragilità, quali implicazioni psicologiche? (2016)

Autore: Martina Gangale & Enzo Grossi

Info: Convegno LA SALUTE ORALE NEL PAZIENTE FRAGILE: APPROCCI TERAPEUTICI INNOVATIVI

Titolo: Tip-Toe Behavior TTB and Achilles's tendon shortening: are they related to a specific TTB subgroup in Autistic Spectrum Disorders (ASD) subjects? (2016)

Autore: Giulio Valagussa, Valeria Balatti, Luca Trentin, Enzo Grossi

Info: Accepted for poster presentation 6° Congresso Nazionale Società Italiana di Fisioterapia(SIF) Milano, 5-6 novembre 2016

Titolo: Monitoring food selectivity in a group of children and adolescents with Autism Spectrum Disorders: an exploratory study based on direct observation (2016)

Autore: Enzo Grossi, Federica Veggo, Sara Melli, Marina Norsi

Info: Poster presentation Congresso SINPIA Alghero 5 ottobre 2016

abstract

Background: Children with Autism Spectrum Disorders (ASD) are characterized by difficulties in reciprocal social interactions and restricted patterns of behavior and interests. Food selectivity is an emblematic aspect of the restricted and stereotyped interests, which are typical of the disease. In fact, in DSM-5, oral fixation for the same kinds of food is considered a manifestation of the insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior. Food selectivity pathogenesis is still unclear and probably linked to an atypical sensory perception. In the experience of clinicians and families, it is one of the earliest visible signs of ASD in children aged one or even younger. Thus far, most of the studies published on the topic relied on indirect assessment methods, such as questionnaires compiled by caregivers. Objectives : In this study, we explore and monitor food selectivity by direct observation of eating behaviors in child and adolescent subjects affected by ASD. The group is currently in care and resides at our rehabilitation institution for patients affected by neuropsychiatric disorders. Methods : Nine ASD patients and a control group, made up of 9 subjects with mild mental retardation were monitored through direct observation during a four week period. Twenty daily food records (Monday-Friday ) were analyzed. The general menu of the institution during this observation period consisted of 39 different foods at lunch and 37 at dinner. Results : ASD subjects resulted significantly more selective than controls ( lunch p = 0.016, dinner p = 0.042 ) with a mean of 36.46 % of refused foods at lunch and 33.02 % at dinner, while controls exhibited a refusal rate of 9.10% at lunch and 2.62% at dinner. Furthermore, the ASD group were more prone to become underweight or overweight because of an unbalanced dietary intake: in fact in ASD subjects we observed a bimodal distribution of weight percentiles ( 6 kids are < 25 % percentile of weight, 2 kids > 75% percentile of weight), while in the control group there was a normal distribution of body weight. Our findings show a negative correlation between food selectivity and the duration of stay at the institution ( R = - 0.5848 ), as well as between food selectivity and age of the subjects (R = - 0.6437 ), while we found a positive correlation between food refusal and the severity of the disease measured with ADOS II ( R = 0.4441 ). Conclusions : Our data confirm the importance of food selectivity in subjects affected by ASD. Both age (younger children are more selective than older ones) and the length of stay at the institution seem to have positive impact on this behavioral pattern. Moreover, the severity of ASD symptoms seems to be directly proportional to nutritional selectivity.

Titolo: Mental stress in siblings of ASD Children: A pilot study on related psychological dimensions (2016)

Autore: Sara Melli; Enzo Grossi

Info: Poster presentation Congresso SINPIA Alghero 5 ottobre 2016

abstract

Background The presence of ASD in the family causes stress, disorientation as well as physical and emotional overload. While most notable in parents, this is also true of healthy siblings who intrinsically perceive more responsibility and often receive less attention than their afflicted ones. As such, typical developing healthy children may suffer several consequences on their psychological well being and quality of life. The evidence available in the literature on the topic is quite controversial, revealing both positive and negative effects deriving from growing up with ASD siblings. Objectives The aims of this pilot study on siblings of ASD children are: 1) to evaluate stress and well-being levels using a self-perceived evaluation; 2) to rate the presence of psychopathological traits (anxiety and depression); 3) to establish if psychological dimensions in siblings of ASD children are related to the severity of the Autism Spectrum Disorder. Methods Fifteen siblings (8 males and 7 females) of ASD children who are attending the Villa Santa Maria Institute as residents or daycare patients were assessed with a clinical interview and self-reporting questionnaires on the following: psychological well-being (Psychological General Well-Being Index Questionnaire - PGWBI), psychiatric symptoms (Self-Rating Anxiety Scale - SAS; Radloff Scale for Depression – CES-D), mental stress (Parenting Stress Index Short Form, PSI-SF) and attachment style (Attachment Style Questionnaire - ASQ). The siblings investigated were between 10 and 18 years old (mean age 15.4 yrs). The severity of the ASDs in children was assessed through the Calibrated Severity Score (CSS) of Autism Diagnostic Observation Schedule (ADOS-2). We used the Pearson correlation coefficient to measure near dependence between variables. Stress levels and psychological well being indexes were compared in terms of gender and family size through t-test. Results The average level of distress results were extremely high (PSI-SF = 98.33). Distress appeared to be mainly related to difficulties in building a meaningful relationship with the ASD child and in managing the child’s behavioral problems. The majority of siblings (13/15) described themselves as being in a state of low psychological well-being (from moderate to severe distress), particularly in the components of depressed mood, anxiety, low self-control and low general health (PGWBI global score <85). Five siblings presented high depressive symptomatology (CES –D score > 16) and were identified as potentially at-risk siblings. As we previously found in parents of ASD children, there was no correlation between ASD severity and magnitude of distress (Pearson = -0.299). Siblings psychological well-being appeared strongly influenced by style of attachment: those with secure attachment style (high level of “Confidence”) had a higher level of perceived well-being (Pearson = .645), while siblings with Anxious-Resistant attachment (high levels of “Preoccupation with relationship”) or Anxious-Avoidant attachment (high levels of “Discomfort with closeness”) had a lower well-being level (Pearson = -.624, Pearson = -.758). Therefore, it appears that relational style seems to influence psychological well-being. No significant differences were found between perceived stress or psychological well-being when comparing sibling gender or family size. Conclusion Siblings of children with autism suffer from high distress irrespectively of ASD severity or family size. About one third of them are at risk of developing major depression.

Titolo: Detection of ignored neurodevelopmental disorder by simple external observation in Kindergarten: a feasibility study (2016)

Autore: Enzo Grossi, Gaetana Mariani, Giorgio Mortara, Marina Norsi

Info: Submitted to Congresso SINPIA Alghero 5 ottobre 2016

url

abstract

Kindergarten is a privileged window of opportunity to observe children behavior in a natural context with the possibility to detect subtle early signs of derangement in motor and neuropsychological development. Our group has developed a standardized protocol with a careful checklist containing over 80 items able to establish delay or anticipation in the acquisition of a given capacity according to age related international developmental nomograms. Expert developmental psychologists, occupational therapists, speech therapists and teachers of special education with the supervision of a senior neuro-pediatrician(MN), observed and interacted with 87 children ages 18-48 months attending the Jewish Community School in Milano City across three sessions after a written informed consent obtained by parents who liked the proposal. External staff were nicely accepted in the classroom and were able to collect all the information required. The school teachers learned basic skills for a deeper observation of children behavior as result of interaction with external professional staff. The following dominions were explored: gross motor function ( basic motor skills, posture, coordination, static and dynamic balance, lateralization, muscle tone), fine motor function( e.g. hand-eye coordination, imitation, complex praxis, grasping), language ( intentional communication, verbal and non verbal skills, language understanding), social and relational function(e.g. eye contact, interpersonal contact, emotion manifestation, autonomy), cognitive function (e.g. game, attention and concentration, tolerance for frustration, sense of danger, spatial organization, mirror image) Fifteen out of 87 children showed deficits and delay in competences belonging to at least one dominion, pointing out a possible undetected developmental disorder in an early phase. Parents were informed and invited to bring the child to a neurodevelopmental diagnostic unit. In three of these cases a specific diagnosis was established in the follow-up: Verbal dyspraxia( two cases) and ASD (one case); This early detection allowed a prompt intervention and planning of appropriate treatment actions. This experience shows that a structured external observation in a kindergarten is a feasible and promising approach for the screening and the early detection of neurodevelopmental disorders. An expansion of the project in schools of four Italian cities ( Turin, Florence, Trieste and Rome) in now underway with the support of Italian Jewish Community Union (UCEI).

Titolo: Mental stress in siblings of ASD Children: A pilot study on related psychological dimensions (2015)

Autore: Sara Melli, Enzo Grossi

Info: Congresso AIRA - ISS Roma, 3-4 Dicembre 2015

abstract

The presence of ASD in the family causes stress, disorientation as well as physical and emotional overload. While most notable in parents, this is also true of healthy siblings who perceive more responsibility and receive less attention than their afflicted ones. The literature on the topic is quite controversial, revealing both positive and negative effects deriving from growing up with ASD siblings. The aims of this pilot study are to evaluate stress and well-being levels in siblings of ASD children and to establish if psychological dimensions are related to the severity of ASD. 15 siblings (8 m, 7f; mean age 15.4 yrs) of ASD children who are attending the Villa Santa Maria Institute as residents or daycare patients were assessed with a clinical interview and self-reporting questionnaires (Psychological General Well-Being Index Questionnaire – PGWBI, Self-Rating Anxiety Scale - SAS; Radloff Scale for Depression – CES-D), mental stress (Parenting Stress Index Short Form adapted, PSI-SF) and attachment style (Attachment Style Questionnaire - ASQ). The average level of distress results was high (PSI-SF = 98.33) and characterized by depressed mood, anxiety, low self-control and low perceived health (PGWBI global score <85). Distress appeared to be related to difficulties in building a meaningful relationship with the ASD child and in managing the child’s behavioral problems. 5 siblings presented high depressive symptomatology (CES –D score > 16) and were identified as potentially at-risk. There was no correlation between ASD severity measured through ADOS-2 and magnitude of distress (Pearson = -0.299). Attachment and relational style strongly influenced psychological wellbeing. Siblings psychological well-being appeared strongly influenced by style of attachment: those with secure attachment style had a higher level of perceived well-being , while siblings with Anxious-Resistant attachment or Anxious-Avoidant attachment had a lower well-being level. No significant differences were found between perceived stress or psychological well-being in relation to sibling gender or family size. In conclusion siblings of children with autism suffer from high distress irrespectively of ASD severity or family size. About one third of them are at risk of developing major depression

Titolo: Collaborazione pubblico-privata e Stato Israeliano (2015)

Autore: Enzo Grossi

Info: Convegno TEFEN, PARTNERSHIP SANITA’ E INDUSTRIA Un modello vincente per il futuro. Villa Panza, 12 giugno 2015

Titolo: Toe Walking and Autism: Cross-Sectional Study on clinical Presentation Patterns and Correlation with language delay (2015)

Autore: Giulio Valagussa, Valeria Balatti, Luca Trentin, Sara Melli, Marina Norsi, Enzo Grossi,

Info: Poster 5° Congresso Nazionale Società Italiana Fisioterapia (SIF), Milano 3-4 ottobre 2015

abstract

Background and objectives: Till now there is no standardized clinical method of assessment of Toe walking (TW) in autism. Moreover, it seems that the persistence of toe walking can be related to language impairment even if systematic observations in the literature are poor. The aims of this cross-sectional study are: 1) to assess the prevalence of toe walking in an ASD cohort; 2) to describe the clinical patterns of presentation of TW; 3) to evaluate the relationship between TW presentation patterns and the severity of autism with particular regard to language delay. Materials and Methods: The study includes 73 consecutive children (60 males; 13 females; mean age = 14,7 years) diagnosed with Autism according to the DSM V criteria and under observation at our institute. A therapist assessed the presence of Tiptoe behavior (TTB) during standing, walking and running using direct observation and interview of the main caregiver living with the children. The severity of autism and the language delay severity was established using the ADOS (2nd version) assessment test. Results: Overall: 23 children (31,51%) presented TTB. Ten children (13,70%) exhibited it while standing, walking and running (class 1), six (8,22%) only during walking and running (class 2) and seven children (9,59%) only during running (class 3). The ADOS mean scores of non TTB children (20.32 (5.39 SD)) and of TTB children (23.39 (5.35)) were not significantly different. Otherwise there were no significant differences in the mean overall ADOS score of the TTB children according to the three TTB classes. Instead we found that language delay severity was correlated with the presence of TTB (p <0.05). Discussion: At our knowledge, this is the first study that shows the presence of three different pattern of presentation of TW in ASD patients and that analyzes and finds a relationship between TTB and severity of language delay. Conclusions: TTB frequently manifests itself in individuals with Autism. It may occur in three mutually exclusive modalities, which include what is commonly defined toe walking. The presence of TTB is correlated to language delay severity.

Titolo: Confronto di diversi strumenti per la misurazione della qualità di vita e dei bisogni di sostegno in persone under 16 affette da disabilità intellettiva (2015)

Autore: Elisa Caminada, Luisa Calliari

Info: Congresso nazionale SIDiN (Società Italiana per i Disturbi del Neurosviluppo); Trento 14-16 maggio 2015

abstract

Case study: Confronto di diversi strumenti per la misurazione della qualità di vita e dei bisogni di sostegno in persone affette da disabilità intellettiva. Il campione è composto da 17 persone con Disabilità Intellettiva (DI) con un’età media di 13 anni e 10 mesi (ds=3 anni), con 6 ragazze e 11 ragazzi tra cui l’82% (n. 14) vive con i propri genitori. Il campione è composto da persone con DI di diversa eziologia e livelli di comportamento adattivo sulle quali sono state somministrate nel corso del processo di validazione italiana tre scale che misurano aspetti diversi in persone under 18. Le scale utilizzate sono state la SIS CY, la POS CA e la QdV di Brown somministrate in tempi molto ravvicinati (di norma entro un mese) normalmente dagli stessi intervistatori agli stessi rispondent (per la maggior parte composti dai genitori o da operatori con una buona conoscenza delle persone esaminate). Scopo dello studio: Verificare in un primo campione pilota multicentrico la validità concorrente l’ eventuale correlazione o sovrapposizione (validità convergente) di tre strumenti per la valutazione di aspetti legati ai bisogni di sostegno e qualità della vita nelle persone con DI under 18. Risultati: Questo studio evidenzia la differenza e la non sovrapponibilità dei costrutti psicometrici misurati da questi strumenti e suggerisce un uso mirato e finalizzato agli obiettivi che si vogliono conseguire. Sono strumenti non pensati per un uso diagnostico e il nostro case study mostra che se uno strumento come la SIS può essere utilizzato per la rilevazione dei bisogni di sostegno, non può essere valido come scala d’esito degli interventi, come rivela la bassa correlazione sulla POS. Quest’ultima, al contrario, evidenzia come le necessità rilevate sugli otto domini di QdV possano essere diverse da quello che viene ritenuto rilevante da parte dei genitori (QdV di Brown) o dei proxy, suggerendo una sorta di dicotomia tra quelli che in letteratura sono ritenuti domini non rinunciabili e la rilevanza che questi hanno nelle aspettative dei familiari. Se questi primi dati verranno confermati dovranno orientare la misurazione degli esiti delle nostre pianificazioni tenendo distinte le diverse percezioni ed evitare semplicistiche riduzioni della complessità ritenendo che un’eventuale diminuzione dei bisogni di sostegno si rifletta in modo lineare sulla QdV della persona.

Titolo: Pregnancy risk factors in autism: a pilot study with artificial neural networks. Vincitore premio Medela miglior presentazione al (2014)

Autore: Enzo Grossi, Federica Veggo

Info: Congresso Società Italiana Medicina Perinatale; Milano 27-29 Novembre 2014

abstract

Introduction: Autism is a multi-factorial condition where a single risk factor can unlikely provide comprehensive explanation for the disease origin. Moreover, due to the complexity of risk factors interplay, traditional statistics is often unable to grasp the core of the problem due to the strong inherent non-linearity of relationships. The aim of this study was to assess the frequency of twenty-seven potential risk factors (including demographic, behavioral, environmental and medical features) derived retrospectively from a careful interview about pregnancy and peri/post history of mothers of autistic children and of typical developing (TD) children. Methods: The clinical sample included a cases group of forty-five autistic children and adolescents (4 females and 41 males; mean age 12.88, S.D. 3.49); and two control groups: a) an external control group formed by 68 typical developing children (29 females and 39 males; mean age 9.13, S.D. 4.20) and b) an internal control group formed by 24 siblings (11 females and 13 males; mean age 13.3 years) of 19 autistic children (19 males; mean age 12.08 years).To assess the possibility to model through these factors the risk of autism with the use of advanced Artificial Neural Networks (ANNs) we employed TWIST system, an evolutionary algorithm able to remove redundant and noisy information and to selected variables allowing specialized ANNs to discriminate between autism and control subjects with accuracy. Results: In the external control a higher prevalence of potential risk factors was observed in twenty-two out of twenty-seven risk factors in autistic group; for six of them, the difference in prevalence was statistically significant (p<0.05): solvents/paints occupational exposure during pregnancy; stressful events during pregnancy; pregnancy complications; perinatal complications; breast feeding deficiency after delivery; early antibiotic therapy of the newborn. This pattern was confirmed also in the internal control group comparison. ANNs working on a subset of 16 variables selected by TWIST system, showed a predictive diagnostic capacity of 80.19% (global accuracy). Conclusions: Pregnancy factors play an important role in autism development. ANNs show a potential to build up a predictive model with high sensitivity and specificity which could represent the basis for a diagnostic screening tool. A larger study is anyway necessary to confirm the evidence derived from a this pilot study.

Titolo: Genetica e terapia anticoagulante con warfarin (2014)

Autore: E.Grossi

Info: 48° Convegno Cardiologia 2014; Milano, 24 Settembre 2014

abstract

Gli studi di farmacogenomica hanno evidenziato ben 30 geni coinvolti nel meccanismo d’azione e nel metabolismo del Warfarin; I geni più importanti sono quelli che sovraintendono la funzionalità del citocromo CYP2C9, uno dei membri della famiglia dei citocromi P-450, responsabile del metabolismo di circa il 16% dei farmaci attualmente in commercio, e l’enzima VKORC1 All’interno di questi geni sono stati individuati ben 100 SNPs responsabili della variabilità della risposta al farmaco Il Warfarin rappresenta l’esempio più emblematico di complessità farmacogenetica per il clinico pratico. La statistica avanzata è oggi in grado di sviluppare modelli predittivi che possono fornire un supporto decisionale per l’ottimizzazione tempestiva del dosaggio. Le reti neurali in particolare si prospettano come una opzione molto valida per la loro capacità di gestire fenomeni altamente non lineari tipici dell’interazione geni-ambiente. Sono necessari ulteriori studi di validazione esterna nel mondo reale su larghe casistiche per confermare in via definitiva l’utilità clinica di questo affascinante approccio.

Titolo: Le basi biologiche dell’invecchiamento (2014)

Autore: Enzo Grossi

Info: Convegno su Invecchiamento come rallentarlo e come gestirlo; Bologna 10 Ottobre 2014

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Titolo: Fattori di rischio gravidici e peri-postanatali dell’autismo: uno studio caso controllo autistici vs fratelli sani (2014)

Autore: Federica Veggo & Enzo Grossi

Info: Congresso Nazionale SINPIA, Roma, Settembre 2014

abstract

Razionale ed obiettivi: L’autismo è una patologia multifattoriale con una componente genetica ed epigenetica. Diversi fattori di rischio “ambientali” gravidici, peri e post natali potrebbero avere un ruolo nell’alterare il corretto sviluppo del sistema nervoso centrale nei soggetti affetti. L’obiettivo di questo studio è confrontare le anamnesi gravidiche e perinatali di 19 soggetti autistici e dei loro 24 fratelli sani, misurando le prevalenze dei fattori di rischio. Metodi: Sono state somministrate dallo stesso operatore interviste strutturate alle madri dei soggetti affetti per indagare eventuali fattori di rischio presenti nella gravidanza del figlio affetto e del figlio sano rispetto ad ambiti comportamentali, ambientali, metabolici e ginecologici. Risultati: Per 14 fattori sui 25 considerati si è registrata una prevalenza maggiore nei soggetti affetti rispetto ai fratelli sani; in particolare esposizione a sostanze tossiche (21% autismo vs 13% fratelli), complicanze gravidiche (68% autismo vs 46% fratelli), eventi stressanti in gravidanza (47% autismo vs 29% fratelli) e complicanze perinatali (26% autismo vs 13% fratelli) per le quali la rilevanza statistica risulta particolarmente importante (OR = 5.07). Conclusioni: Lo studio dei fattori di rischio gravidici rappresenta una nuova frontiera per la comprensione e per la prevenzione dell’autismo.

Titolo: Lo stress mentale dei genitori di bambini autistici: studio pilota delle dimensioni psicologiche associate. (2014)

Autore: Cristina Zarbo, Sara Melli, Angelo Compare, Giorgia Paleari, Enzo Grossi

Info: Congresso Nazionale SINPIA, Roma, Settembre 2014

abstract

Razionale e Obiettivi: Lo stress genitoriale è clinicamente frequente nelle famiglie con bambini autistici e influisce negativamente sulla cura del minore. Obiettivo principale è valutare lo stress psicologico di genitori di minori autistici rispetto ai vissuti di senso di colpa, stile di attaccamento, strategie di coping e capacità di mindfullness. Metodi: 41 genitori (eta': M=45,4;SD=5,7) sono stati valutati con questionari self-report. Risultati: Il 78% dei genitori presenta elevati livelli di stress spiegati innanzitutto dai comportamenti problematici del bambino, ma anche da un alterato senso di competenza genitoriale, restrizioni su altri ruoli sociali, conflitto con il coniuge, mancanza di supporto sociale, depressione, relazione disfunzionale genitore-bambino. L’attaccamento ansioso o evitante risulta essere inversamente correlato con la capacità del genitore di interpretare gli stati mentali propri ed altrui (r= -0,53; r= -0,33). Inoltre i genitori con attaccamento ansioso presentano un elevato senso di colpa autoattribuita e adottano strategie di coping di evitamento, mentre i genitori con attaccamento evitante tendono ad attribuire la colpa all’esterno/coniuge. Conclusioni: L’interplay dei fattori psicologici legati allo stress genitoriale è notevolmente complesso. La comprensione di tali relazioni è il punto di partenza per attivare e valorizzare risorse parentali essenziali per il benessere del bambino e dei caregivers.

Titolo: Età della Vita Età delle Cose/ Enzo Grossi incontra Remo Bodei (2014)

Autore: Enzo Grossi

Info: COSMOFARMA Bologna 9-11 maggio 2014

Titolo: Cultura e salute (2014)

Autore: Enzo Grossi

Info: Top 10 Gastro; Sarnico 14 - 15 Marzo 2014

Titolo: How to measure “toe-walking” associated with autistic spectrum disorders (ASD): proposal for a new evaluation protocol (2014)

Autore: Giulio Valagussa,Valeria Balatti, Luca Trentin,Enzo Grossi

Info: 4° Congresso Nazionale Società Italiana Fisioterapia; Firenze 24-25 Maggio 2014

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abstract

Background and objective: Twenty per cent of individuals with ASD walk on their tiptoes (toe-walking = TW) with different degrees of severity(1-2). If persistent this may lead to important musculoskeletal changes(3). Unfortunately methods to "quantify" TW are missing in literature. The aims of this study are to propose a protocol for assessing TW and to assess whether a soft surface influences motor behavior. Material and methods: The inclusion criteria were: a diagnosis of ASD according to the criteria of DSM IV and the presence of an ankle dorsiflexion range of motion wider than 90°. Videos were made during a static task (playing in front of a support for 3 minutes) and during a dynamic task (transporting an object from one spot to a therapist situated 2 meters away and back again for 15 times). Each task was repeated on three different days. The tests were repeated again on a foam mat. An operator, not involved in the testing, assessed the videos of the static task trials by calculating the time spent in full feet support or on tiptoes. The dynamic task trials were assessed by counting the number of times the child was able to walk the full length with all steps in full feet support or in the toe-walking posture. Results: On the floor, during the static tests, the subject remained on tiptoes for an average of 85% of the time (see table 1). During the dynamic tests the child toe walked 100% of the measured lengths. On the soft surface, during the static trials the child used the posture on tiptoes for an average of 37% of the time while during the dynamic trials he tiptoes 42%of the measured lengths. Discussion: This method seems to provide a quantitative measure of two aspects of motor behavior of toe walkers. It seems that the soft surface induces a significant increase in the time of full support during static and dynamic tasks. Conclusions: The proposed protocol seems to be an useful tool to measure static and dynamic toe-walking. The soft surface seems to influence considerably motor behavior.

Titolo: A novel data mining process discloses a global immunodeficit in Alzheimer and Mild Cognitive Impairment (2013)

Autore: M. Gironi, E. Farina, M.Saresella, C.Cursano, B.Borgiani, E. Mariani, M. Alberoni, R. Nemni, M. Clerici, G. Comi, M. Buscema E.Grossi and R.Furlan

Info: Proceedings HSR Retreat 2013, Milano November 2013

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abstract

Background: Alzheimer Disease (AD) is the most common form of dementia, while Mild Cognitive Impairment (MCI) causes a slight but noticeable and measurable decline in cognitive abilities. A person with MCI has an increased risk of developing Alzheimer's or another dementia. Thus, it is of medical interest to develop predictive tools to assess this risk. A growing awareness exists that pro-oxidative state and neuroinflammation are both involved in AD. In fact, It is of common belief that a global immuno-imbalance is present during the course of this disease. However, how and at what degree they are related is still debated. Due to the expected non-linear correlations between oxidative and inflammatory markers, traditional statistic is both un-suitable and under-powered to dissect their relationship with the disease. (A)rtificial (N)eural (N)etworks (ANN) belong to computer science and related fields. They are computational models inspired by  central nervous systems networks, capable of machine learning and pattern recognition. They are usually presented as systems of interconnected “neurons" that can compute values from inputs by feeding information through their network. These advanced mathematical techniques have found large and successful employment in predicting the value of specific risk factors in several medical fields. Aim: Disclosing the relationship between immunological and oxidative stress markers in AD and MCI by the application of ANN. Methods: Auto-CM is a special kind of Artificial Neural Network developed at Semeion Research Centre, Rome, able to find consistent associations among variables. The matrix of connections, visualized through a minimum spanning tree, preserves non linear associations among variables, capturing elusive connection schemes among clusters that are often overlooked by traditional cluster analyses. Results: With Auto-CM it is possibile to appreciate a spatial segregation of AD and MCI from HC. Th1 cells, as previously reported, but even Th2, functional M1 and M2 cells were overall decreased in AD and MCI. Low anti-ox-LDL and high PAO strongly associated to cognitive impairment. A peculiar signature of immunological deficit, both of Th1 and Th2 nature, seems thus associated to MCI and AD. Conclusions: Through a machine learning approach, we where able to instruct an algorithm to classify MCI and AD with high accuracy. Such an instrument, requiring a small amount of immunological and oxidative-stress parameters, would be useful in the clinical practice. On the other hand, applying an innovative non-linear mathematical technique, a global immune deficit was shown associated to cognitive impairment. Both adaptive and innate immunity were peripherally defective in AD and MCI patients. From this study, new pathogenetic aspects of these diseases could emerge.

Titolo: Microbioma intestinale: dal benessere alla patologia (2013)

Autore: Enzo Grossi

Info: LA SCUOLA DELL’ATOPIA; Milano 6-7 Dicembre 2013

abstract

Il nostro organismo ospita circa 100 bilioni di microbi, la maggior parte dei quali vivono nel nostro intestino, dove contribuiscono attivamente a proteggere la nostra salute, eliminando le tossine, producendo vitamine e amminoacidi, e rafforzando il nostro sistema immunitario. La serie di geni microbici comprende oltre 3 milioni di geni, cosa che la rende 150 volte più grande del genoma umano. Il microbiota umano ha messo a disposizione geni che la specie umana ha progressivamente spento nel proprio ciclo evolutivo. Il nuovo quadro emergente è quello di un superorganismo fatto di tratti umani e microbici in cui i tratti microbici dominano nettamente. Modificazioni di questa simbiosi sono alla base di un numero inaspettatamente elevato di malattie croniche degenerative sulle quali le nuove tecnologie di biologia molecolare come la metagenomica e metaproteomica stanno facendo luce. Evidenze crescenti suggeriscono che diverse malattie intestinali ed extraintestinali complesse sono correlate a modificazioni della flora intestinale un disturbo della flora intestinale.

Titolo: TWIST algorithm and K-CM Neural Networks applied to urinary metabolic profiling: an optimal strategy for pattern classification (2013)

Autore: Cristina Neri, Massimo Buscema, Enzo Grossi, Andrea Urbani,

Info: VIII ItPA Annual Congress, Padova 18- 21 June 2013 Poster; prize for 4th best

abstract

Urinary metabolic profiling is a very commonly used analytical approach that could be helpful for the diagnosis and for a deeper comprehension of mechanisms underlying many diseases. On the other hand, metabonomic analyses generate large numbers of variables. So in chemometric models the number of observations is typically much lower than the total number of variables and the good performance statistics observed can be due to overfitting of data. To investigate the pattern of correlation among large number of variables, we have applied the TWIST Algorithm to an urine dataset, analyzed by GC/MS (40 cases vs 39 controls). TWIST (Training with Input Selection and Testing) is an innovative and complex algorithm able to look for the best distribution of the global database divided in two optimally balanced subsets, containing a minimum number of input features useful for optimal pattern recognition[1]. At the end of TWIST evolution we have used different learning machines and, interestingly, with K-CM approach the predictive accuracy to discriminate between cases and controls reached an average of 100%. Furthermore, the new methodology applied to this study, “spatializes” the correlation among variables so that a visually transparent and cognitively natural notion such as “closeness” among variables represents accurately their associations[2]. This innovative approach applied to urinary metabolic profiling could be very useful to analyze metabonomic datasets with large number of variables, to identify most important variables for pattern recognition, to differentiate cases from controls and to evidence the complexity of variable interaction.

Titolo: The discriminant power of qualitative scoring of pentagons copy between autopsy-verified dementia with Lewy bodies and Alzheimer’s disease patients (2013)

Autore: Micaela Mitolo, David P. Salmon, Simona Gardini, Douglas Galasko, Enzo Grossi, Paolo Caffarra

Info: 24 Congresso SIN, MIlano, 2-5 Novembre 2013

abstract

Visual-constructional apraxia is a prominent feature of Dementia with Lewy Bodies (DLB) that may contribute to clinically distinguish it from Alzheimer's Disease (AD). Some previous studies suggested the importance of identifying tests able to easily recognize DLB ab initio. The pentagons copy included in the MMSE was found to be a promising tool (Ala et al., 2001). Aims: To investigate if the qualitative parameters of the Qualitative Scoring method of the Pentagon Test (QSPT) (Caffarra et al., 2013) might help in differentiating DLB from AD in autopsy-verified patients using both a linear and non-linear approach, i.e. artificial neural networks. Methods: Patient’s pentagons drawings were assessed using the QSPT at four different time points in the disease progression: the first year in which they received a diagnosis of dementia or any other cognitive deficit, and then three years, two years, and one year before death. Temporal changes in items associations structure were analyzed with Artificial Neural Networks (Auto-CM system, Semeion, Rome. Results: At the first evaluation, the number of angles was the only parameter significantly inferior in DLB compared to AD . Three years before death no differences were found; two years before death, the total pentagons score and closure/opening parameter were significantly worse in DLB group; one year before death only rotation was worse in DLB than AD. The Auto-Contractive Map (Auto-CM) longitudinally showed that with disease progression, DLB was related to lower qualitative pentagons scores, whereas AD to higher qualitative pentagons parameters Conclusions: The number of angles is the first parameter to decline in patients with autopsy-confirmed DLB compared with AD, and it may be an early marker of DLB. A gradual decline in other parameters and total pentagons score occurs in both groups during the following years, with greater severity for the DLB group. Further studies on larger sample would be necessary to establish the clinical relevance of QSPT. The different pattern of association between qualitative pentagons parameters and diagnostic entity, might reflect a good capacity of the qualitative parameters in distinguishing the two variants of dementia.

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