Robyn A. Filipink
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View article: Preferences and Experiences of Parents/Guardians of Adolescents and Young Adults with Epilepsy and Intellectual Disability Regarding Decision-Making Surrounding Contraception
Preferences and Experiences of Parents/Guardians of Adolescents and Young Adults with Epilepsy and Intellectual Disability Regarding Decision-Making Surrounding Contraception Open
Findings may inform interventions to improve contraceptive care for AYAs with epilepsy and ID, including development of discussion guides and decision aids for parents/caregivers.
View article: Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder Open
Objective To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods A multicenter, re…
View article: Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder Open
View article: Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder
Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder Open
View article: Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome Open
View article: Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus Open
Objective To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background There are no consensus criteria for the evaluation or diagnosis of neuroc…
View article: Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort
Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort Open
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal …
View article: Deletion of conserved non‐coding sequences downstream from <i>NKX2‐1</i>: A novel disease‐causing mechanism for benign hereditary chorea
Deletion of conserved non‐coding sequences downstream from <i>NKX2‐1</i>: A novel disease‐causing mechanism for benign hereditary chorea Open
Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2 ‐ 1 mutations or deletions are the cause of BHC, some BHC families do not have pa…