Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that incl...

Autism spectrum disorder (ASD) is a heritable, common neurodevelopmental disorder with diverse genetic causes. Several studies have implicated protein synthesis as one among several of its potential convergent mechanisms. We originally identified Janus kinase and microtubule-interacting protein 1 (JAKMIP1) as differentially expressed in patients with distinct syndromic forms of ASD, fragile X s...

Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129 affected subjects and 89 unaffected siblings, age 2 to 17 years, using the Sl...

Autism is a neurodevelopmental disorder with complex pathophysiology that affects different areas of the brain. Evidence over past decade indicated role for cerebellum in social skills connection neuropathological changes. In this study, we examined cerebellar plasticity rats exhibited autistic-like behaviors after maternal separation (MS). We showed were associated changes volume size. first t...

OBJECTIVE The purpose of this study is to determine the frequency of emotional, behavioral, and learning disorders in children exposed in utero to hyperemesis gravidarum (HG) and to identify prognostic factors for these disorders. STUDY DESIGN Neurodevelopmental outcomes of 312 children from 203 mothers with HG were compared to neurodevelopmental outcomes from 169 children from 89 unaffected ...

Most research on neurodevelopmental disorders has focused on their abnormalities. However, what remains intact may also be important. Increasing evidence suggests that declarative memory, a critical learning and memory system in the brain, remains largely functional in a number of neurodevelopmental disorders. Because declarative memory remains functional in these disorders, and because it can ...

Adverse in utero events can alter the development and function of numerous physiological systems, giving rise to lasting neurodevelopmental deficits. In particular, data have shown that prenatal alcohol exposure can reprogram neurobiological systems, altering developmental trajectories and resulting in increased vulnerability to adverse neurobiological, behavioral and health outcomes. Increasin...

Autism is a behaviorally defined neurodevelopmental disorder characterized by qualitative impairments in social interaction, communication, and aberrant repetitive behaviors. Behavioral phenotyping in laboratory animals to simulate core symptomology has been a large research focus with the aim to not only elucidate the behavioral basis and neural underpinnings of the disorder, but also study po...

The association between affective instability and both family history of mood disorders and signs of neurodevelopmental disturbance was examined in a sample of 303 adults. Affective instability was measured using the borderline personality disorder "affective instability due to a marked reactivity of mood" diagnostic criterion as assessed dimensionally using the Personality Disorder Interview--...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction, difficulties with language, and repetitive/restricted behaviors. The etiology of ASD is still largely unclear, but immune dysfunction and abnormalities in synaptogenesis have repeatedly been implicated as contributing to the disease phenotype. However, an understanding of how and if ...