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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
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Kidd, Sharon A.; Berry-Kravis, Elizabeth; Choo, Tse Hwei; Chen, Chen; Esler, Amy; Hoffmann, Anne; Andrews, Howard F.; Kaufmann, Walter E. – Journal of Autism and Developmental Disorders, 2020
We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Clinical Diagnosis
Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
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Eckert, Eleanor M.; Dominick, Kelli C.; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Andrews, Howard; Choo, Tse-Hwei; Chen, Chen; Kaufmann, Walter E.; Tartaglia, Nicole; Berry-Kravis, Elizabeth M.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2019
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…
Descriptors: Genetic Disorders, Self Destructive Behavior, Aggression, Behavior Problems
Parents' Initial Concerns about the Development of Their Children Later Diagnosed with Fragile X Syndrome
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Zhang, Dajie; Kaufmann, Walter E.; Sigafoos, Jeff; Bartl-Pokorny, Katrin D.; Krieber, Magdalena; Marschik, Peter B.; Einspieler, Christa – Journal of Intellectual & Developmental Disability, 2017
Background: Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder. Method: We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were…
Descriptors: Parents, Parent Attitudes, Genetic Disorders, Intellectual Disability
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
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Raspa, Melissa; Bann, Carla M.; Gwaltney, Angela; Benke, Timothy A.; Fu, Cary; Glaze, Daniel G.; Haas, Richard; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E.; Lieberman, David; Marsh, Eric; Peters, Sarika; Ryther, Robin; Standridge, Shannon; Skinner, Steven A.; Percy, Alan K.; Neul, Jeffrey L. – American Journal on Intellectual and Developmental Disabilities, 2020
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency,…
Descriptors: Genetic Disorders, Psychometrics, Psychomotor Skills, Physical Disabilities
Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children with Rett Syndrome
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Clarkson, Tessa; LeBlanc, Jocelyn; DeGregorio, Geneva; Vogel-Farley, Vanessa; Barnes, Katherine; Kaufmann, Walter E.; Nelson, Charles A. – Intellectual and Developmental Disabilities, 2017
Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessments. In this study, the administration and scoring of the Mullen Scales of Early Learning (MSEL) were adapted to eliminate the confounding effects of FM…
Descriptors: Cognitive Ability, Motor Development, Children, Genetic Disorders
Assessment of Caregiver Inventory for Rett Syndrome
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Lane, Jane B.; Salter, Amber R.; Jones, Nancy E.; Cutter, Gary; Horrigan, Joseph; Skinner, Steve A.; Kaufmann, Walter E.; Glaze, Daniel G.; Neul, Jeffrey L.; Percy, Alan K. – Journal of Autism and Developmental Disorders, 2017
Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi…
Descriptors: Caregivers, Caregiver Attitudes, Test Reliability, Test Validity
Changing the Perspective on Early Development of Rett Syndrome
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Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2013
We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…
Descriptors: Pathology, Video Technology, Language Acquisition, Genetic Disorders
Peculiarities in the Gestural Repertoire: An Early Marker for Rett Syndrome?
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Marschik, Peter B.; Sigafoos, Jeff; Kaufmann, Walter E.; Wolin, Thomas; Talisa, Victor B.; Bartl-Pokorny, Katrin D.; Budimirovic, Dejan B.; Vollmann, Ralf; Einspieler, Christa – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis…
Descriptors: Video Technology, Child Language, Play, Nonverbal Communication
Profiling Early Socio-Communicative Development in Five Young Girls with the Preserved Speech Variant of Rett Syndrome
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Marschik, Peter B.; Kaufmann, Walter E.; Einspieler, Christa; Bartl-Pokorny, Katrin D.; Wolin, Thomas; Pini, Giorgio; Budimirovic, Dejan B.; Zappella, Michele; Sigafoos, Jeff – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period…
Descriptors: Females, Video Technology, Oral Language, Interpersonal Communication
Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment
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Sansone, Stephanie M.; Widaman, Keith F.; Hall, Scott S.; Reiss, Allan L.; Lightbody, Amy; Kaufmann, Walter E.; Berry-Kravis, Elizabeth; Lachiewicz, Ave; Brown, Elaine C.; Hessl, David – Journal of Autism and Developmental Disorders, 2012
Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure. A multi-site collaboration examined the psychometric properties of the ABC-C in 630 individuals (ages 3-25) with FXS using…
Descriptors: Check Lists, Mental Retardation, Hyperactivity, Factor Structure
Searching for the Causes of Autism
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Kaufmann, Walter E.; Silverman, Wayne – Exceptional Parent, 2010
A March 16, 2009 New York Times headline read, "An Outbreak of Autism, or a Statistical Fluke?" While this article focused narrowly on Somali families relocated to the Minneapolis area, the headline applies equally well to the broader national picture of autism spectrum disorders (ASDs), and it represents a compelling illustration of the lack of…
Descriptors: Genetic Disorders, Autism, Genetics, Brain