Journal Publications

Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice Access full publication here. Introduction Autism spectrum disorder (ASD) is a behaviorally defined complex neurodevelopmental disorder. The diagnosis of ASD is based on observations and assessments of behavior using Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) () or International Classification of Diseases, 11th Edition (ICD-11) criteria (). Though the DSM and ICD are quite useful in determining whether a given individual's behavior is consistent with a given diagnosis, it does not speak to the etiology or impact of co-occurring conditions on the behavioral phenotype or ...
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Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome. Access full publication here. ABSTRACT An efficient and direct measure of social interactions and autism symptoms is needed for fragile X syndrome (FXS) research and clinical care. The Autism Screening Instrument for Educational Planning-Third Edition (ASIEP-3) Interaction assessment is a brief standardized measure that quantifies social responses under different conditions. The feasibility and validity of the ASIEP-3 was evaluated in 26 males and 13 females with FXS, along with cognitive testing and behavior questionnaires. The videos were ...
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Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Access full publication here. ABSTRACT Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with ...
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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment Access full publication here. ABSTRACT While it is widely acknowledged that language development is delayed for the majority of individuals with fragile X syndrome (FXS), there has been limited research into how best to assess this area. This study aimed to deepen the understanding of standardized language assessment in FXS by addressing the three following objectives: (1) Examine the feasibility and validity of widely-used, standardized assessments in participants with FXS; (2) describe linguistic and cognitive profiles for a large sample of individuals with FXS; and (3) Compare ...
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Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome. Access full publication here. ABSTRACT Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. Thus, HRQoL may be an important outcome measure following intervention. However, it is yet not known whether HRQoL concerns relate to observed impairments in FXS. In the present study, we examined the nature and degree of association between HRQoL and established measures ...
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Toilet Training in Fragile X Syndrome. Access NFXF consensus document here. Access full publication here. Summary: Toilet training issues can be burdensome and a significant problem for families with children affected by Fragile X Syndrome (FXS). This groundbreaking study utilized FORWARD data on 633 individuals with FXS to fill the gap for much needed information on when children with FXS learn bladder and bowel toileting skills. By characterizing toileting milestones in children with FXS, this study helps to shed light on the factors causing delays in toilet training. Language, behavioral irritability and autism spectrum diagnoses (ASD) presented as the main ...
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Preventive care services and health behaviors in children with fragile X syndrome. Access full publication here. Published in Disability and Health Journal, researchers from the Centers for Disease Control and Prevention and other organizations presented FORWARD data on preventive services received by children and young adults with FXS. This research can help clinicians identify preventive care services that patients with FXS may need. Key findings: Only one in four children and young adults with FXS met the physical activity guidance from the United States Department of Health and Human Service (DHHS). DHHS recommends children 6–17 years of age get one ...
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Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. Behavioral dysregulation, or the impairment of behavioral processes, is common in FXS. A regularly cited group of behaviors in individuals with FXS, particularly males, is irritability, agitation, aggression and self-injurious (IAAS) behaviors. These behaviors can put a strain on both the individual and their caregiver’s quality of life and there is little information about how to manage these behaviors with medication. This publication in the Journal of Autism and Developmental Disorders presented information from a FORWARD dataset involving 415 individuals with IAAS behaviors ...
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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. Access full publication here. This paper published in the Journal of Autism and Developmental Disorders addresses the difficulty of diagnosing ASD in FXS. Although individuals with FXS are commonly diagnosed with ASD, it is a challenging diagnosis because intellectual disability and co-occurring mental health conditions can be interpreted as autistic features. Two commonly used standard measures, the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS), were examined as potential tools for improving ASD diagnosis and characterization ...
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A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome. Access full publication here. ABSTRACT Language delay and communication deficits are a core characteristic of the fragile X syndrome (FXS) phenotype. To date, the literature examining early language development in FXS is limited potentially due to barriers in language assessment in very young children. The present study is one of the first to examine early language development through vocal production and the language learning environment in infants and toddlers with FXS utilizing an automated vocal analysis system. Child vocalizations, conversational turns, and adult word counts in the ...
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