[article]
| 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 Phenotype 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 |
in Journal of Neurodevelopmental Disorders > 16 (2024)
[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 PISANÒ, 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 Phenotype 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 |
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