A5010202985- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Child Nutrition and Feeding Issues
- Genomic variations and chromosomal abnormalities
- Attention Deficit Hyperactivity Disorder
- Infant Nutrition and Health
- Neurogenesis and neuroplasticity mechanisms
- Developmental Biology and Gene Regulation
- Functional Brain Connectivity Studies
- Gut microbiota and health
- Child Development and Digital Technology
- Digestive system and related health
- Tumors and Oncological Cases
- Congenital heart defects research
- Multiple Sclerosis Research Studies
- Supramolecular Self-Assembly in Materials
- Genomics and Rare Diseases
- Tuberous Sclerosis Complex Research
- RNA regulation and disease
- Family and Disability Support Research
- Polyomavirus and related diseases
- Animal Genetics and Reproduction
- Olfactory and Sensory Function Studies
Ospedale San Paolo
2015-2021
University of Milan
2007-2012
Several studies have described in autistic patients an overgrowth of unusual gut bacterial strains, able to push the fermentation tyrosine up formation p-cresol. We compared levels urinary p-cresol, measured by high-performance liquid chromatography-ultraviolet, 59 matched case-control pairs. Urinary p-cresol was significantly elevated children smaller than 8 years age (p < 0.01), typically females 0.05), and more severely affected regardless sex 0.05). cotinine measurements excluded...
Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study to begin identifying at least some these components and assess their association with biological endophenotypes. To address issue, we recruited 245 Italian patients idiopathic autism spectrum disorders first-degree relatives. Using stepwise approach, patient family history variables were analyzed using principal component analysis ("exploratory phase"), followed by...
Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting 61 patients. The aims this study were: 1) assess prevalence ASD a TSC population; 2) describe severity ASD; 3) identify potential risk factors associated development We selected 42 individuals over age 4 years definite diagnosis followed at clinic Northern...
We have recently described four principal pathogenetic components in autism: ( I ) circadian and sensory dysfunction, II immune abnormalities, III neurodevelopmental delay, IV stereotypic behaviors. Using hierarchical k‐means clustering, the same 245 patients assessed our component analysis can be partitioned into clusters: (a) 43 (17.6%) prominent abnormalities accompanied by some issues; (b) 44 (18.0%) display major with little or no symptoms; (c) stereotypies predominate 75 (31.0%); (d)...
Objective: We aimed to define the sociodemographic, clinical, and prescription profiles of participants enrolled in Italian Lombardy ADHD Register. Method: Data on patients evaluated by 18 regional reference centers 2012 2013 period were analyzed. Results: Seven hundred fifty-three 1,150 (65%) suspected received a diagnosis ADHD. In 24% cases, there was family history Four eighty-three (64%) had at least one psychopathological disorder, more common which learning disorders (35%). Eighty-four...
To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested critical region (CR) of 2.1 Mb including several genes, out which FBXO25, DLGAP2, CLN8, ARHGEF10 MYOM2 are the main candidates. Here we present seven additional microdeletions, ranging from 71.79 kb to 4.55 Mb. review previously reported...
Abstract Background HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference conjunction with HOXA1 . In our sample, alleles significantly influence head growth rates both autistic patients population controls. An initial report, suggesting that confer autism vulnerability interaction , was not confirmed by five small association studies. Methods Our sample includes 269 individuals, belonging to 219 simplex 28 multiplex families. A mutational...