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Article
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in develo** and evaluating treatments and in determining accurate prognosis. We employed a ped...
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Article
Open AccessRandomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder
There is a critical need for effective treatment of the core symptoms of autism spectrum disorder (ASD). The purinergic antagonist suramin may improve core symptoms through restoration of normal mitochondrial ...
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Article
Open AccessIndividuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluat...
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Article
Open AccessProspective and detailed behavioral phenoty** in DDX3X syndrome
DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and lang...
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Article
Open AccessFOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...
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Article
Open AccessDelineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, b...
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Article
Open AccessProspective investigation of FOXP1 syndrome
Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described t...
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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
Executive Dysfunction in Female FMR1 Premutation Carriers
There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive fun...
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Article
Aging in Fragile X Premutation Carriers
It is now recognized that FMR1 premutation carriers (PC) are at risk to develop a range of neurological, psychiatric, and immune-mediated disorders during adulthood. There are conflicting findings regarding the i...
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Article
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kin...
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Fragile X Syndrome
Fragile X syndrome and the associated disorders account for a wide range of clinical symptoms that require proper behavioral and pharmacological intervention. Early diagnosis is crucial to maximizing successfu...
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Article
Open AccessGenomic studies in fragile X premutation carriers
The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-...
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Article
Open AccessDe Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate d...
