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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...
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is...
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...
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure
A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are as...
The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe
The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe
Research indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopme...
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...
Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium
Intrapartum exposure to synthetic oxytocin, maternal BMI, and neurodevelopmental outcomes in children within the ECHO consortium
Synthetic oxytocin (sOT) is frequently administered during parturition. Studies have raised concerns that fetal exposure t...
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 ...
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associa...
Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a w...
Reduced lateralization of multiple functional brain networks in autistic males
Reduced lateralization of multiple functional brain networks in autistic males
Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One suc...
Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study
Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study
Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes i...
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of transl...
An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders
An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders
The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usuall...
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broa...
The Brain Gene Registry: a data snapshot
The Brain Gene Registry: a data snapshot
Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. Ho...
Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months
Neurobehavioral outcomes of neonatal asymptomatic congenital cytomegalovirus infection at 12-months
Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infectio...
Exploring an objective measure of overactivity in children with rare genetic syndromes
Exploring an objective measure of overactivity in children with rare genetic syndromes
Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman...
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