Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome / Lisa ASTA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome Type de document : texte imprimé Auteurs : Lisa ASTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Laura TURRIZIANI, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Jessica ANGELINI, Auteur ; Martina GNAZZO, Auteur ; Giulia SCANDOLO, Auteur ; Giulia PISANÃ’, Auteur ; Francesco PELAGATTI, Auteur ; Fethia CHEHBANI, Auteur ; Michela CAMIA, Auteur ; Antonio M. PERSICO, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Italy  Phenotype  Child  Chromosome Deletion  Chromosomes, Human, Pair 22/genetics  Adolescent  Child, Preschool  Adult  Young Adult  Chromosome Disorders/physiopathology/complications/blood  Autism Spectrum Disorder/blood/physiopathology/complications  Nerve Tissue Proteins/blood/genetics  Intellectual Disability/etiology/blood  Shank3  22q13 deletion syndrome  Autism spectrum disorder  Hyperserotonemia  Intellectual disability  Macrocephaly  Neuroinflammation  Phelan-McDermid syndrome  Serotonin Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. En ligne : https://dx.doi.org/10.1186/s11689-024-09572-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome [texte imprimé] / Lisa ASTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Laura TURRIZIANI, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Jessica ANGELINI, Auteur ; Martina GNAZZO, Auteur ; Giulia SCANDOLO, Auteur ; Giulia PISANÃ’, Auteur ; Francesco PELAGATTI, Auteur ; Fethia CHEHBANI, Auteur ; Michela CAMIA, Auteur ; Antonio M. PERSICO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Italy  Phenotype  Child  Chromosome Deletion  Chromosomes, Human, Pair 22/genetics  Adolescent  Child, Preschool  Adult  Young Adult  Chromosome Disorders/physiopathology/complications/blood  Autism Spectrum Disorder/blood/physiopathology/complications  Nerve Tissue Proteins/blood/genetics  Intellectual Disability/etiology/blood  Shank3  22q13 deletion syndrome  Autism spectrum disorder  Hyperserotonemia  Intellectual disability  Macrocephaly  Neuroinflammation  Phelan-McDermid syndrome  Serotonin Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. En ligne : https://dx.doi.org/10.1186/s11689-024-09572-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Gut mobilization improves behavioral symptoms and modulates urinary p-cresol in chronically constipated autistic children: A prospective study / Laura TURRIZIANI in Autism Research, 15-1 (January 2022)  

Public ISBD [article]  inAutism Research > 15-1 (January 2022) . - p.56-69 Titre : Gut mobilization improves behavioral symptoms and modulates urinary p-cresol in chronically constipated autistic children: A prospective study Type de document : texte imprimé Auteurs : Laura TURRIZIANI, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Fabiana BELLOMO, Auteur ; Giada TURTURO, Auteur ; Maria BONCODDO, Auteur ; Silvestro MIRABELLI, Auteur ; Maria Luisa SCATTONI, Auteur ; Maddalena ROSSI, Auteur ; Antonio M. PERSICO, Auteur Article en page(s) : p.56-69 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications  Autistic Disorder/complications  Behavioral Symptoms  Child  Child, Preschool  Constipation/complications  Cresols/urine  Gastrointestinal Microbiome  Gastrointestinal Motility  Humans  Prospective Studies  4-cresol  anxiety  autism  autism spectrum disorder  biomarkers  constipation  microbiota Index. décimale : PER Périodiques Résumé : Chronic constipation is common among children with ASD and is associated with more severe hyperactivity, anxiety, irritability, and repetitive behaviors. Young autistic children with chronic constipation display higher urinary, and foecal concentrations of p-cresol, an aromatic compound produced by gut bacteria, known to negatively affect brain function. Acute p-cresol administration to BTBR mice enhances anxiety, hyperactivity and stereotypic behaviors, while blunting social interaction. This study was undertaken to prospectively assess the behavioral effects of gut mobilization in young autistic children with chronic constipation, and to verify their possible correlation with urinary p-cresol. To this aim, 21 chronically constipated autistic children 2-8 years old were evaluated before (T0), 1 month (T1), and 6 months (T2) after intestinal mobilization, recording Bristol stool scale scores, urinary p-cresol concentrations, and behavioral scores for social interaction deficits, stereotypic behaviors, anxiety, and hyperactivity. Gut mobilization yielded a progressive and highly significant decrease in all behavioral symptoms over the 6-month study period. Urinary p-cresol levels displayed variable trends not significantly correlated with changes in behavioral parameters, mainly increasing at T1 and decreasing at T2. These results support gut mobilization as a simple strategy to ameliorate ASD symptoms, as well as comorbid anxiety and hyperactivity, in chronically constipated children. Variation in p-cresol absorption seemingly provides limited contributions, if any, to these behavioral changes. Further research will be needed to address the relative role of reduced abdominal discomfort following mobilization, as compared to specific modifications in microbiome composition and in gut bacteria-derived neuroactive compounds. En ligne : http://dx.doi.org/10.1002/aur.2639 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Gut mobilization improves behavioral symptoms and modulates urinary p-cresol in chronically constipated autistic children: A prospective study [texte imprimé] / Laura TURRIZIANI, Auteur ; Arianna RICCIARDELLO, Auteur ; Francesca CUCINOTTA, Auteur ; Fabiana BELLOMO, Auteur ; Giada TURTURO, Auteur ; Maria BONCODDO, Auteur ; Silvestro MIRABELLI, Auteur ; Maria Luisa SCATTONI, Auteur ; Maddalena ROSSI, Auteur ; Antonio M. PERSICO, Auteur . - p.56-69. Langues : Anglais (eng) in Autism Research > 15-1 (January 2022) . - p.56-69 Mots-clés : Autism Spectrum Disorder/complications  Autistic Disorder/complications  Behavioral Symptoms  Child  Child, Preschool  Constipation/complications  Cresols/urine  Gastrointestinal Microbiome  Gastrointestinal Motility  Humans  Prospective Studies  4-cresol  anxiety  autism  autism spectrum disorder  biomarkers  constipation  microbiota Index. décimale : PER Périodiques Résumé : Chronic constipation is common among children with ASD and is associated with more severe hyperactivity, anxiety, irritability, and repetitive behaviors. Young autistic children with chronic constipation display higher urinary, and foecal concentrations of p-cresol, an aromatic compound produced by gut bacteria, known to negatively affect brain function. Acute p-cresol administration to BTBR mice enhances anxiety, hyperactivity and stereotypic behaviors, while blunting social interaction. This study was undertaken to prospectively assess the behavioral effects of gut mobilization in young autistic children with chronic constipation, and to verify their possible correlation with urinary p-cresol. To this aim, 21 chronically constipated autistic children 2-8 years old were evaluated before (T0), 1 month (T1), and 6 months (T2) after intestinal mobilization, recording Bristol stool scale scores, urinary p-cresol concentrations, and behavioral scores for social interaction deficits, stereotypic behaviors, anxiety, and hyperactivity. Gut mobilization yielded a progressive and highly significant decrease in all behavioral symptoms over the 6-month study period. Urinary p-cresol levels displayed variable trends not significantly correlated with changes in behavioral parameters, mainly increasing at T1 and decreasing at T2. These results support gut mobilization as a simple strategy to ameliorate ASD symptoms, as well as comorbid anxiety and hyperactivity, in chronically constipated children. Variation in p-cresol absorption seemingly provides limited contributions, if any, to these behavioral changes. Further research will be needed to address the relative role of reduced abdominal discomfort following mobilization, as compared to specific modifications in microbiome composition and in gut bacteria-derived neuroactive compounds. En ligne : http://dx.doi.org/10.1002/aur.2639 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity / Roberto SACCO ; Maria BONCODDO ; Fabiana BELLOMO ; Francesca CUCINOTTA ; Arianna RICCIARDELLO ; Laura TURRIZIANI ; Pasquale TOMAIUOLO ; Riccardo Cuoghi COSTANTINI ; Roberto D'AMICO ; Antonio M. PERSICO in Research in Autism Spectrum Disorders, 117 (September 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 117 (September 2024) . - p.102457 Titre : Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity Type de document : texte imprimé Auteurs : Roberto SACCO, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Francesca CUCINOTTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Laura TURRIZIANI, Auteur ; Pasquale TOMAIUOLO, Auteur ; Riccardo Cuoghi COSTANTINI, Auteur ; Roberto D'AMICO, Auteur ; Antonio M. PERSICO, Auteur Article en page(s) : p.102457 Langues : Anglais (eng) Mots-clés : Autism  Autism Spectrum Disorder  Intellectual Disability  Primitive reflex  Sensory profile  Toe walking Index. décimale : PER Périodiques Résumé : Background Children and adolescents with Autism Spectrum Disorder (ASD) often present motor signs and symptoms, including toe walking (TW). The pathophysiology of TW in ASD is not fully understood. In particular, it is debated whether it may represent a persistent primitive walking pattern or the result of abnormal processing of sensory input from the lower limbs and feet. The present study is aimed at assessing the association between TW and cognitive, sensory, motor and language functions, as well as autism severity. Method We enrolled 112 children and adolescents with ASD, 61 with TW and 51 without TW. A complete psychodiagnostic assessment was performed, including ADOS-2, ADI-R, PEP-3, IQ testing or Griffiths Mental Developmental Scales, and Short Sensory Profile. Results Children and adolescents with TW have significantly lower cognitive level, greater language and motor impairment, as well as greater autism severity. Instead, no difference in severity of sensory abnormalities or in sensory profile emerges between cases with and without TW. Conclusions the present data are most compatible with a model interpreting TW as a behavioral pattern resulting from the persistence of a primitive walking pattern (i.e. lack of heel strike, prior to the acquisition of plantar walking) or possibly of archaic tonic reflexes, rather than as a consequence primarily of abnormal sensory processing. Health practitioners should monitor the gait of autistic children and plan appropriate interventions, aimed at promoting the adoption of more mature plantar walking patterns. En ligne : https://doi.org/10.1016/j.rasd.2024.102457 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Toe walking in children and adolescents with Autism Spectrum Disorder: Relationship with sensory and motor functions,language, cognition, and autism severity [texte imprimé] / Roberto SACCO, Auteur ; Maria BONCODDO, Auteur ; Fabiana BELLOMO, Auteur ; Francesca CUCINOTTA, Auteur ; Arianna RICCIARDELLO, Auteur ; Laura TURRIZIANI, Auteur ; Pasquale TOMAIUOLO, Auteur ; Riccardo Cuoghi COSTANTINI, Auteur ; Roberto D'AMICO, Auteur ; Antonio M. PERSICO, Auteur . - p.102457. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 117 (September 2024) . - p.102457 Mots-clés : Autism  Autism Spectrum Disorder  Intellectual Disability  Primitive reflex  Sensory profile  Toe walking Index. décimale : PER Périodiques Résumé : Background Children and adolescents with Autism Spectrum Disorder (ASD) often present motor signs and symptoms, including toe walking (TW). The pathophysiology of TW in ASD is not fully understood. In particular, it is debated whether it may represent a persistent primitive walking pattern or the result of abnormal processing of sensory input from the lower limbs and feet. The present study is aimed at assessing the association between TW and cognitive, sensory, motor and language functions, as well as autism severity. Method We enrolled 112 children and adolescents with ASD, 61 with TW and 51 without TW. A complete psychodiagnostic assessment was performed, including ADOS-2, ADI-R, PEP-3, IQ testing or Griffiths Mental Developmental Scales, and Short Sensory Profile. Results Children and adolescents with TW have significantly lower cognitive level, greater language and motor impairment, as well as greater autism severity. Instead, no difference in severity of sensory abnormalities or in sensory profile emerges between cases with and without TW. Conclusions the present data are most compatible with a model interpreting TW as a behavioral pattern resulting from the persistence of a primitive walking pattern (i.e. lack of heel strike, prior to the acquisition of plantar walking) or possibly of archaic tonic reflexes, rather than as a consequence primarily of abnormal sensory processing. Health practitioners should monitor the gait of autistic children and plan appropriate interventions, aimed at promoting the adoption of more mature plantar walking patterns. En ligne : https://doi.org/10.1016/j.rasd.2024.102457 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

---

1 (1 - 3 / 3) Par page : 25 50 100 200