Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder / Lara CIRNIGLIARO in Journal of Autism and Developmental Disorders, 54-6 (June 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-6 (June 2024) . - p.2418-2418 Titre : Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lara CIRNIGLIARO, Auteur ; Maria Stella VALLE, Auteur ; Antonino CASABONA, Auteur ; Martina RANDAZZO, Auteur ; Francesca La BRUNA, Auteur ; Fabio PETTINATO, Auteur ; Antonio NARZISI, Auteur ; Renata RIZZO, Auteur ; Rita BARONE, Auteur Article en page(s) : p.2418-2418 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-024-06274-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530 [article] Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Lara CIRNIGLIARO, Auteur ; Maria Stella VALLE, Auteur ; Antonino CASABONA, Auteur ; Martina RANDAZZO, Auteur ; Francesca La BRUNA, Auteur ; Fabio PETTINATO, Auteur ; Antonio NARZISI, Auteur ; Renata RIZZO, Auteur ; Rita BARONE, Auteur . - p.2418-2418. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-6 (June 2024) . - p.2418-2418 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-024-06274-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder / Rita BARONE in Autism Research, 9-4 (April 2016)  

Public ISBD [article]  inAutism Research > 9-4 (April 2016) . - p.423-428 Titre : CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder Type de document : Texte imprimé et/ou numérique Auteurs : Rita BARONE, Auteur ; Luisella STURIALE, Auteur ; Agata FIUMARA, Auteur ; Angelo PALMIGIANO, Auteur ; Rosaria O. BUA, Auteur ; Renata RIZZO, Auteur ; Mario ZAPPIA, Auteur ; Domenico GAROZZO, Auteur Article en page(s) : p.423-428 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  CSF N-glycome  Tay Sachs Disease  GM2 gangliosidosis  MALDI-TOF MS Index. décimale : PER Périodiques Résumé : Protein N-glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N-glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function. Previous experimental and clinical studies have shown the importance of proper glycoprotein sialylation for the synaptic function and the occurrence of autism spectrum disorders (ASD) in the presence of sialylation deficiency in the CNS. Late-onset Tay Sachs disease (LOTSD) is a lysosomal disorder caused by mutations in the HEXA gene resulting in GM2-ganglioside storage in the CNS. It is characterized by progressive neurological impairment and high co-occurrence of psychiatric disturbances. We studied the N-glycome profile of the cerebrospinal fluid (CSF) in a 14 year-old patient with GM2-gangliosidosis (LOTSD). At the age of 4, the patient presented regressive autism fulfilling criteria for childhood disintegrative disorder (CDD). A CSF sample was obtained in the course of diagnostic work-up for the suspicion of an underlying neurodegenerative disorder. We found definite changes of CSF N-glycans due to a dramatic decrease of sialylated biantennary and triantennary structures and an increase of asialo-core fucosylated bisected N-glycans. No changes of total plasma N-glycans were found. Herein findings highlight possible relationships between the early onset psychiatric disturbance featuring CDD in the patient and defective protein sialylation in the CNS. In conclusion, the study first shows aberrant N-glycan structures of CSF proteins in LOTSD; unveils possible pathomechanisms of GM2-gangliosidosis; supports existing relationships between neuropsychiatric disorders and unproper protein glycosylation in the CNS. Autism Res 2016, 9: 423–428. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1541 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287 [article] CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder [Texte imprimé et/ou numérique] / Rita BARONE, Auteur ; Luisella STURIALE, Auteur ; Agata FIUMARA, Auteur ; Angelo PALMIGIANO, Auteur ; Rosaria O. BUA, Auteur ; Renata RIZZO, Auteur ; Mario ZAPPIA, Auteur ; Domenico GAROZZO, Auteur . - p.423-428. Langues : Anglais (eng) in Autism Research > 9-4 (April 2016) . - p.423-428 Mots-clés : autism spectrum disorders  CSF N-glycome  Tay Sachs Disease  GM2 gangliosidosis  MALDI-TOF MS Index. décimale : PER Périodiques Résumé : Protein N-glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N-glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function. Previous experimental and clinical studies have shown the importance of proper glycoprotein sialylation for the synaptic function and the occurrence of autism spectrum disorders (ASD) in the presence of sialylation deficiency in the CNS. Late-onset Tay Sachs disease (LOTSD) is a lysosomal disorder caused by mutations in the HEXA gene resulting in GM2-ganglioside storage in the CNS. It is characterized by progressive neurological impairment and high co-occurrence of psychiatric disturbances. We studied the N-glycome profile of the cerebrospinal fluid (CSF) in a 14 year-old patient with GM2-gangliosidosis (LOTSD). At the age of 4, the patient presented regressive autism fulfilling criteria for childhood disintegrative disorder (CDD). A CSF sample was obtained in the course of diagnostic work-up for the suspicion of an underlying neurodegenerative disorder. We found definite changes of CSF N-glycans due to a dramatic decrease of sialylated biantennary and triantennary structures and an increase of asialo-core fucosylated bisected N-glycans. No changes of total plasma N-glycans were found. Herein findings highlight possible relationships between the early onset psychiatric disturbance featuring CDD in the patient and defective protein sialylation in the CNS. In conclusion, the study first shows aberrant N-glycan structures of CSF proteins in LOTSD; unveils possible pathomechanisms of GM2-gangliosidosis; supports existing relationships between neuropsychiatric disorders and unproper protein glycosylation in the CNS. Autism Res 2016, 9: 423–428. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1541 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287

The Developmental Autism Early Screening (DAES): A Novel Test for Screening Autism Spectrum Disorder / Lara CIRNIGLIARO ; Maria Stella VALLE ; Antonino CASABONA ; Martina RANDAZZO ; Francesca La Bruna ; Fabio PETTINATO ; Antonio NARZISI ; Renata RIZZO ; Rita BARONE in Journal of Autism and Developmental Disorders, 55-1 (January 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.221-236 Titre : The Developmental Autism Early Screening (DAES): A Novel Test for Screening Autism Spectrum Disorder : Journal of Autism and Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lara CIRNIGLIARO, Auteur ; Maria Stella VALLE, Auteur ; Antonino CASABONA, Auteur ; Martina RANDAZZO, Auteur ; Francesca La Bruna, Auteur ; Fabio PETTINATO, Auteur ; Antonio NARZISI, Auteur ; Renata RIZZO, Auteur ; Rita BARONE, Auteur Article en page(s) : p.221-236 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study was undertaken to set a novel developmental screening test for autism spectrum disorder (ASD) using the Griffiths Scales of Child Development (Griffith III) (Green et al., 2016; Stroud et al., 2016), in order to intercept the early atypical developmental patterns indicating ASD risk in the first 3 years of age. An observational and interactive ASD screener, the Developmental Autism Early Screening (DAES), was developed by detecting Griffiths III items differentiating toddlers with ASD risk from those with global developmental delay (DD) or neurotypical development. The DAES was validated with ASD-specific diagnostic instruments (ADOS-2) and the cut-off score based on sensitivity, specificity and positive predictive value that best differentiates between ASD and non-ASD children was identified. We enrolled a total sample of 297 subjects, including children at risk for ASD or DD and neurotypical children. At a cut-off score of 12.5, the DAES had a sensitivity of 93%, specificity of 98.4%, positive predictive value of 96.3% and negative predictive value of 96.9% for identifying children at risk for ASD from non-ASD participants (DD/neurotypical children). The DAES total score correlated significantly with the ADOS-2 calibrated severity scores (CSS) (R = 0.53, p < 0.001). Three ASD risk ranges were identified according to DAES total and ADOS-2 CSS: Little-to-no risk (CSS: 1-3, DAES: 1-7); Mild-to-moderate risk (CSS: 4-5, DAES: 8-14); Moderate-to-severe risk (CSS: 6-10, DAES???15). The DAES provides a direct approach based on developmental profiles to stratify risk for ASD in early childhood ensuring at risk children the most appropriate diagnostic procedures and targeted intervention. En ligne : https://doi.org/10.1007/s10803-023-06184-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 [article] The Developmental Autism Early Screening (DAES): A Novel Test for Screening Autism Spectrum Disorder : Journal of Autism and Developmental Disorders [Texte imprimé et/ou numérique] / Lara CIRNIGLIARO, Auteur ; Maria Stella VALLE, Auteur ; Antonino CASABONA, Auteur ; Martina RANDAZZO, Auteur ; Francesca La Bruna, Auteur ; Fabio PETTINATO, Auteur ; Antonio NARZISI, Auteur ; Renata RIZZO, Auteur ; Rita BARONE, Auteur . - p.221-236. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.221-236 Index. décimale : PER Périodiques Résumé : This study was undertaken to set a novel developmental screening test for autism spectrum disorder (ASD) using the Griffiths Scales of Child Development (Griffith III) (Green et al., 2016; Stroud et al., 2016), in order to intercept the early atypical developmental patterns indicating ASD risk in the first 3 years of age. An observational and interactive ASD screener, the Developmental Autism Early Screening (DAES), was developed by detecting Griffiths III items differentiating toddlers with ASD risk from those with global developmental delay (DD) or neurotypical development. The DAES was validated with ASD-specific diagnostic instruments (ADOS-2) and the cut-off score based on sensitivity, specificity and positive predictive value that best differentiates between ASD and non-ASD children was identified. We enrolled a total sample of 297 subjects, including children at risk for ASD or DD and neurotypical children. At a cut-off score of 12.5, the DAES had a sensitivity of 93%, specificity of 98.4%, positive predictive value of 96.3% and negative predictive value of 96.9% for identifying children at risk for ASD from non-ASD participants (DD/neurotypical children). The DAES total score correlated significantly with the ADOS-2 calibrated severity scores (CSS) (R = 0.53, p < 0.001). Three ASD risk ranges were identified according to DAES total and ADOS-2 CSS: Little-to-no risk (CSS: 1-3, DAES: 1-7); Mild-to-moderate risk (CSS: 4-5, DAES: 8-14); Moderate-to-severe risk (CSS: 6-10, DAES???15). The DAES provides a direct approach based on developmental profiles to stratify risk for ASD in early childhood ensuring at risk children the most appropriate diagnostic procedures and targeted intervention. En ligne : https://doi.org/10.1007/s10803-023-06184-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546

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