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Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q1...
Specific EEG resting state biomarkers in FXS and ASD
Specific EEG resting state biomarkers in FXS and ASD
Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantia...
Physiological and communicative emotional disconcordance in children on the autism spectrum
Physiological and communicative emotional disconcordance in children on the autism spectrum
Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using c...
The role of social motivation in sharing and fairness: insights from Williams syndrome
The role of social motivation in sharing and fairness: insights from Williams syndrome
Sharing and fairness are important prosocial behaviors that help us navigate the social world. However, little is known ab...
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most commo...
Altered individual-level morphological similarity network in children with growth hormone deficiency
Altered individual-level morphological similarity network in children with growth hormone deficiency
Accumulating evidences indicate regional grey matter (GM) morphology alterations in pediatric growth hormone deficiency (G...
Sensory symptoms associated with autistic traits and anxiety levels in children aged 6–11 years
Sensory symptoms associated with autistic traits and anxiety levels in children aged 6–11 years
Autism spectrum conditions (ASC) and quantitative autistic traits (QATs) are associated with sensory symptoms, which may c...
Behavioural and neurodevelopmental characteristics of SYNGAP1
Behavioural and neurodevelopmental characteristics of SYNGAP1
SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, ...
Exploring the link between toxic metal exposure and ADHD: a systematic review of pb and hg
Exploring the link between toxic metal exposure and ADHD: a systematic review of pb and hg
Attention-Deficit/Hyperactivity Disorder (ADHD) is a recognized neurodevelopmental disorder with a complex, multifactorial...
Diffusion indices alteration in major white matter tracts of children with tic disorder using TRACULA
Diffusion indices alteration in major white matter tracts of children with tic disorder using TRACULA
Tic disorder is a neuropsychiatric disorder characterized by involuntary movements or vocalizations. Previous studies util...
Developmental change of brain volume in Rett syndrome in Taiwan
Developmental change of brain volume in Rett syndrome in Taiwan
Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on b...
Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
Sleep disturbances are a prevalent and complex comorbidity in neurodevelopmental disorders (NDDs). Dup15q syndrome (duplic...
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related compli...
Developmental milestones and daily living skills in individuals with Angelman syndrome
Developmental milestones and daily living skills in individuals with Angelman syndrome
Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ag...
Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conce...
From wings to whiskers to stem cells: why every model matters in fragile X syndrome research
From wings to whiskers to stem cells: why every model matters in fragile X syndrome research
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) ...
Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder
Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder
Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the sev...
Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit
Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit
Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital ...