Approche neuropsychologique du comportement répétitif chez les enfants avec autisme / Carmela BRAVACCIO in Bulletin Scientifique de l'arapi (Le), 4 (décembre 1999)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 4 (décembre 1999) . - p.41-42 Titre : Approche neuropsychologique du comportement répétitif chez les enfants avec autisme Type de document : Texte imprimé et/ou numérique Auteurs : Carmela BRAVACCIO, Auteur Année de publication : 1999 Article en page(s) : p.41-42 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117 [article] Approche neuropsychologique du comportement répétitif chez les enfants avec autisme [Texte imprimé et/ou numérique] / Carmela BRAVACCIO, Auteur . - 1999 . - p.41-42. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 4 (décembre 1999) . - p.41-42 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117

Candidate gene study of HOXB1 in autism spectrum disorder / Lucia A. MUSCARELLA in Molecular Autism, (May 2010)  

Public ISBD [article]  inMolecular Autism > (May 2010) . - 39 p. Titre : Candidate gene study of HOXB1 in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur Année de publication : 2010 Article en page(s) : 39 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103 [article] Candidate gene study of HOXB1 in autism spectrum disorder [Texte imprimé et/ou numérique] / Lucia A. MUSCARELLA, Auteur ; Carmela BRAVACCIO, Auteur ; Cindy SCHNEIDER, Auteur ; Monica SACCANI, Auteur ; Carlo LENTI, Auteur ; Roberto MILITERNI, Auteur ; Grazia GIANA, Auteur ; Riccardo ALESSANDRELLI, Auteur ; Barbara MANZI, Auteur ; Roberto SACCO, Auteur ; Vito GUARNIERI, Auteur ; Raun D. MELMED, Auteur ; Paolo CURATOLO, Auteur ; Antonio M. PERSICO, Auteur ; Leonardo D'AGRUMA, Auteur . - 2010 . - 39 p. Langues : Anglais (eng) in Molecular Autism > (May 2010) . - 39 p. Index. décimale : PER Périodiques Résumé : Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies. Methods Our sample includes 269 autistic individuals, belonging to 219 simplex and 28 multiplex families. A mutational analysis of the two exons and flanking intronic sequences of the HOXB1 gene was carried out in 84 autistic patients by denaturing high performance liquid chromatography, followed by DNA sequencing. Identified rare variants were then searched by a restriction analysis in 236 autistic patients and 325-345 controls. Case-control and family-based association studies were performed on two common variants in 169 Italian patients versus 184 Italian controls and in 247 trios. Results We identified three common polymorphisms, rs72338773 [c.82insACAGCGCCC (INS/nINS)], rs12939811 [c.309A>T (Q103H)], and rs7207109 [c.450G>A (A150A)] and three rare variants, namely IVS1+63G>A, rs35115415 [c.702G>A (V234V)] and c.872_873delinsAA (S291N). SNPs rs72338773 and rs12939811 were not associated with autism, using either a case-control (alleles, exact P=0.13) or a family-based design [transmission/disequilibrium test (TDT)x2=1.774, P=0.183]. The rare variants, all inherited from one of the parents, were present in two Italian and in two Caucasian-American families. Autistic probands in two families surprisingly inherited a distinct rare variant from each parent. The IVS1+63A allele was present in 3/690 control chromosomes, whereas rare alleles at rs35115415 and c.872_873delinsAA (S291N) were not found in 662 and 650 control chromosomes, respectively. The INS-T309 allele influenced head size, but its effect appears more modest and shows no interaction with HOXA1 alleles. The INS-T309 allele is also associated with more severe stereotypic behaviours, according to ADI-R scores (N= 60 patients, P<0.01). Conclusions HOXB1 mutations do not represent a common cause of autism, nor do HOXB1 common variants play important roles in autism vulnerability. HOXB1 provides minor, albeit detectable contributions to head circumference in autistic patients, with HOXA1 displaying more prominent effects. HOXB1 variants may modulate the clinical phenotype, especially in the area of stereotypic behaviours. En ligne : http://dx.doi.org/10.1186/2040-2392-1-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103

Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components / Roberto SACCO in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.137-147 Titre : Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components Type de document : Texte imprimé et/ou numérique Auteurs : Roberto SACCO, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Carmela BRAVACCIO, Auteur ; Antonio M. PERSICO, Auteur Année de publication : 2012 Article en page(s) : p.137-147 Langues : Anglais (eng) Mots-clés : pervasive developmental disorders  cluster analysis  immune system  neurodevelopment  principal component analysis Index. décimale : PER Périodiques Résumé : We have recently described four principal pathogenetic components in autism: (I) circadian and sensory dysfunction, (II) immune abnormalities, (III) neurodevelopmental delay, and (IV) stereotypic behaviors. Using hierarchical and k-means clustering, the same 245 patients assessed in our principal component analysis can be partitioned into four clusters: (a) 43 (17.6%) have prominent immune abnormalities accompanied by some circadian and sensory issues; (b) 44 (18.0%) display major circadian and sensory dysfunction, with little or no immune symptoms; (c) stereotypies predominate in 75 (31.0%); and (d) 83 (33.9%) show a mixture of all four components, with greater disruptive behaviors and mental retardation. The “immune” component provides the largest contributions to phenotypic variance (P = 2.7 x 10–45), followed by “stereotypic behaviors.” These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment. En ligne : http://dx.doi.org/10.1002/aur.1226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components [Texte imprimé et/ou numérique] / Roberto SACCO, Auteur ; Carlo LENTI, Auteur ; Monica SACCANI, Auteur ; Paolo CURATOLO, Auteur ; Barbara MANZI, Auteur ; Carmela BRAVACCIO, Auteur ; Antonio M. PERSICO, Auteur . - 2012 . - p.137-147. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.137-147 Mots-clés : pervasive developmental disorders  cluster analysis  immune system  neurodevelopment  principal component analysis Index. décimale : PER Périodiques Résumé : We have recently described four principal pathogenetic components in autism: (I) circadian and sensory dysfunction, (II) immune abnormalities, (III) neurodevelopmental delay, and (IV) stereotypic behaviors. Using hierarchical and k-means clustering, the same 245 patients assessed in our principal component analysis can be partitioned into four clusters: (a) 43 (17.6%) have prominent immune abnormalities accompanied by some circadian and sensory issues; (b) 44 (18.0%) display major circadian and sensory dysfunction, with little or no immune symptoms; (c) stereotypies predominate in 75 (31.0%); and (d) 83 (33.9%) show a mixture of all four components, with greater disruptive behaviors and mental retardation. The “immune” component provides the largest contributions to phenotypic variance (P = 2.7 x 10–45), followed by “stereotypic behaviors.” These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment. En ligne : http://dx.doi.org/10.1002/aur.1226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions / Patricia SEGURA ; Louise GALLAGHER ; Stelios GEORGIADES ; Panagiota PERVANIDOU ; Audrey THURM ; Lindsay ALEXANDER ; Evdokia ANAGNOSTOU ; Yuta AOKI ; Catherine S. BIRKEN ; Somer L. BISHOP ; Jessica BOI ; Carmela BRAVACCIO ; Helena BRENTANI ; Paola CANEVINI ; Alessandra CARTA ; Alice CHARACH ; Antonella COSTANTINO ; Katherine T. COST ; Elaine A. CRAVO ; Jennifer CROSBIE ; Chiara DAVICO ; Federica DONNO ; Junya FUJINO ; Alessandra GABELLONE ; Cristiane T. GEYER ; Tomoya HIROTA ; Stephen KANNE ; Makiko KAWASHIMA ; Elizabeth KELLEY ; Hosanna KIM ; Young Shin KIM ; So Hyun KIM ; Daphne J. KORCZAK ; Meng-Chuan LAI ; Lucia MARGARI ; Lucia MARZULLI ; Gabriele MASI ; Luigi MAZZONE ; Jane MCGRATH ; Suneeta MONGA ; Paola MOROSINI ; Shinichiro NAKAJIMA ; Antonio NARZISI ; Rob NICOLSON ; Aki NIKOLAIDIS ; Yoshihiro NODA ; Kerri NOWELL ; Miriam POLIZZI ; Joana PORTOLESE ; Maria Pia RICCIO ; Manabu SAITO ; Ida SCHWARTZ ; Anish K. SIMHAL ; Martina SIRACUSANO ; Stefano SOTGIU ; Jacob STROUD ; Fernando SUMIYA ; Yoshiyuki TACHIBANA ; Nicole TAKAHASHI ; Riina TAKAHASHI ; Hiroki TAMON ; Raffaella TANCREDI ; Benedetto VITIELLO ; Alessandro ZUDDAS ; Bennett LEVENTHAL ; Kathleen MERIKANGAS ; Michael P. MILHAM ; Adriana DI MARTINO in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 7 p. Titre : CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions Type de document : Texte imprimé et/ou numérique Auteurs : Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions [Texte imprimé et/ou numérique] / Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur . - 7 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 7 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Is food refusal in autistic children related to TAS2R38 genotype? / M. P. RICCIO in Autism Research, 11-3 (March 2018)  

Public ISBD [article]  inAutism Research > 11-3 (March 2018) . - p.531-538 Titre : Is food refusal in autistic children related to TAS2R38 genotype? Type de document : Texte imprimé et/ou numérique Auteurs : M. P. RICCIO, Auteur ; C. FRANCO, Auteur ; R. NEGRI, Auteur ; R. I. FERRENTINO, Auteur ; R. MARESCA, Auteur ; E. D'ALTERIO, Auteur ; L. GRECO, Auteur ; Carmela BRAVACCIO, Auteur Article en page(s) : p.531-538 Langues : Anglais (eng) Mots-clés : ASD children  PROP phenotype  TAS2R38 genotype  food selectivity Index. décimale : PER Périodiques Résumé : Several studies suggest that atypical eating behaviors, in particular food selectivity, are more frequent in children with autism spectrum disorder (ASD). A link between bitter taste perception, namely PROP/PTC sensitivity and food preferences is known in healthy children. The aim of this study is to investigate whether genetic variants of the TAS2R38 taste receptor responsible for different bitter sensitivity could affect foods preferences and consequently food refusal in ASD children. We recruited 43 children with ASD and 41 with normotypic development (TD) with or without food selectivity, aged between 2 and 11 years. Children were characterized for bitter sensitivity by means of PROP strips and FACS analysis and genotyped for TAS2R38 polymorphisms. Food selectivity was assessed by a validated food preference questionnaire filled by parents. A statistically significant correlation between PROP sensitivity and food refusal was observed. Furthermore, a prevalence of the PAV-sensitive haplotype compared to the AVI-insensitive one was seen in ASD children with food selectivity. In agreement with the initial hypothesis the results show that food refusal in ASD children is mediated by bitter taste sensitivity thus suggesting that the bitter sensitivity test may be used as a device to orientate tailored food proposals for the practical management of food selectivity in ASD. Autism Res 2018, 11: 531-538. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: A variation of the gene TAS2R38, associated with bitter taste sensitivity, can cause a different perception of some foods. In particular, some children are hypersensitive to bitterness and show a more restricted repertoire of accepted foods. We evaluate bitter sensitivity in ASD children with or without food selectivity, through a simple bitter taste test with edible strips. The results show that food refusal in ASD children can be mediated by bitter taste sensitivity thus suggesting that the bitter sensitivity test may be used as a device to orientate tailored food proposals for the practical management of food selectivity in ASD. En ligne : http://dx.doi.org/10.1002/aur.1912 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=352 [article] Is food refusal in autistic children related to TAS2R38 genotype? [Texte imprimé et/ou numérique] / M. P. RICCIO, Auteur ; C. FRANCO, Auteur ; R. NEGRI, Auteur ; R. I. FERRENTINO, Auteur ; R. MARESCA, Auteur ; E. D'ALTERIO, Auteur ; L. GRECO, Auteur ; Carmela BRAVACCIO, Auteur . - p.531-538. Langues : Anglais (eng) in Autism Research > 11-3 (March 2018) . - p.531-538 Mots-clés : ASD children  PROP phenotype  TAS2R38 genotype  food selectivity Index. décimale : PER Périodiques Résumé : Several studies suggest that atypical eating behaviors, in particular food selectivity, are more frequent in children with autism spectrum disorder (ASD). A link between bitter taste perception, namely PROP/PTC sensitivity and food preferences is known in healthy children. The aim of this study is to investigate whether genetic variants of the TAS2R38 taste receptor responsible for different bitter sensitivity could affect foods preferences and consequently food refusal in ASD children. We recruited 43 children with ASD and 41 with normotypic development (TD) with or without food selectivity, aged between 2 and 11 years. Children were characterized for bitter sensitivity by means of PROP strips and FACS analysis and genotyped for TAS2R38 polymorphisms. Food selectivity was assessed by a validated food preference questionnaire filled by parents. A statistically significant correlation between PROP sensitivity and food refusal was observed. Furthermore, a prevalence of the PAV-sensitive haplotype compared to the AVI-insensitive one was seen in ASD children with food selectivity. In agreement with the initial hypothesis the results show that food refusal in ASD children is mediated by bitter taste sensitivity thus suggesting that the bitter sensitivity test may be used as a device to orientate tailored food proposals for the practical management of food selectivity in ASD. Autism Res 2018, 11: 531-538. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: A variation of the gene TAS2R38, associated with bitter taste sensitivity, can cause a different perception of some foods. In particular, some children are hypersensitive to bitterness and show a more restricted repertoire of accepted foods. We evaluate bitter sensitivity in ASD children with or without food selectivity, through a simple bitter taste test with edible strips. The results show that food refusal in ASD children can be mediated by bitter taste sensitivity thus suggesting that the bitter sensitivity test may be used as a device to orientate tailored food proposals for the practical management of food selectivity in ASD. En ligne : http://dx.doi.org/10.1002/aur.1912 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=352

Principal pathogenetic components and biological endophenotypes in autism spectrum disorders / Roberto SACCO in Autism Research, 3-5 (October 2010)  

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La réactivité à la douleur des enfants atteints d’autisme / Carmela BRAVACCIO in Bulletin Scientifique de l'arapi (Le), 6 (décembre 2000)

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Slow intestinal transit contributes to elevate urinary p-cresol level in Italian autistic children / Stefano GABRIELE in Autism Research, 9-7 (July 2016)  

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