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Article
Open AccessAssociation of Breastfeeding Duration with Neurodevelopmental Outcomes in an Enriched Familial Likelihood Cohort for Autism Spectrum Disorder
This study aimed to compare the breastfeeding (BF) duration of the younger siblings of children with ASD in an enriched-likelihood cohort for autism spectrum disorder (ASD), and to determine whether longer BF ...
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Article
Open AccessUntargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome
The chromosome 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with a wide range of brain-related phenotypes including schizophrenia spectrum disorders ...
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Article
Open AccessChromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic hom...
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Article
Open AccessErratum to: Safety and tolerability of Bifidobacterium longum subspecies infantis EVC001 supplementation in healthy term breastfed infants: a phase I clinical trial
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Article
Open AccessA randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve ...
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Article
Open AccessSafety and tolerability of Bifidobacterium longum subspecies infantis EVC001 supplementation in healthy term breastfed infants: a phase I clinical trial
Historically, bifidobacteria were the dominant intestinal bacteria in breastfed infants. Still abundant in infants in develo** nations, levels of intestinal bifidobacteria are low among infants in developed ...
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Article
Sociodemographic Disparities in Intervention Service Utilization in Families of Children with Autism Spectrum Disorder
This study investigates whether sociodemographic factors are associated with utilization of intervention services for children with autism spectrum disorder (ASD) enrolled in the Childhood Autism Risks from Ge...
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Article
Open AccessMap** the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a ...
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Article
Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?
High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more...