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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
Examining the Function of Problem Behavior in Fragile X Syndrome: Preliminary Experimental Analysis
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Langthorne, Paul; McGill, Peter; O'Reilly, Mark F.; Lang, Russell; Machalicek, Wendy; Chan, Jeffrey Michael; Rispoli, Mandy – American Journal on Intellectual and Developmental Disabilities, 2011
Fragile X syndrome is the most common inherited cause of intellectual and developmental disability. The influence of environmental variables on behaviors associated with the syndrome has received only scant attention. The current study explored the function served by problem behavior in fragile X syndrome by using experimental functional analysis…
Descriptors: Genetic Disorders, Mental Retardation, Behavior Problems, Children
T Lymphocyte Maturation Is Impaired in Healthy Young Individuals Carrying Trisomy 21 (Down Syndrome)
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Guazzarotti, Laura; Trabattoni, Daria; Castelletti, Eleonora; Boldrighini, Benedetta; Piacentini, Luca; Duca, Piergiorgio; Beretta, Silvia; Pacei, Michela; Caprio, Cristiana; Vigano, Alessandra; di Natale, Berardo; Zuccotti, Gian Vincenzo; Clerici, Mario – American Journal on Intellectual and Developmental Disabilities, 2009
Cytokine production, immune activation, T lymphocytes maturation, and serum IL-7 concentration were examined in 24 youngsters with Down syndrome and no acquired diseases (healthy Down syndrome [12 prepubertal, 13 pubertal]) and 42 age- and gender-matched controls (20 prepubertal, 22 pubertal). Results showed that a complex immune and impairment is…
Descriptors: Down Syndrome, Genetic Disorders, Genetics, Children
Exploring the Adult Life of Men and Women with Fragile X Syndrome: Results from a National Survey
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Hartleyand, Sigan L.; Seltzer, Marsha Mailick; Raspa, Melissa; Olmstead, Murrey; Bishop, Ellen; Bailey, Donald B., Jr. – American Journal on Intellectual and Developmental Disabilities, 2011
Using data from a national family survey, the authors describe the adult lives (i.e., residence, employment, level of assistance needed with everyday life, friendships, and leisure activities) of 328 adults with the full mutation of the FMR1 gene and identify characteristics related to independence in these domains. Level of functional skills was…
Descriptors: Genetic Disorders, Mental Retardation, Adults, National Surveys
Using a Parent Survey to Advance Knowledge about the Nature and Consequences of Fragile X Syndrome
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Bailey, Donald B., Jr.; Raspa, Melissa; Olmsted, Murrey G. – American Journal on Intellectual and Developmental Disabilities, 2010
Understanding the nature and consequences of intellectual and developmental disabilities is challenging, especially when the condition is rare, affected individuals are geographically dispersed, and/or resource constraints limit large-scale studies involving direct assessment. Surveys provide an alternative methodology for gathering information…
Descriptors: Mental Retardation, Developmental Disabilities, Genetic Disorders, Surveys
Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses
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Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr. – American Journal on Intellectual and Developmental Disabilities, 2010
A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…
Descriptors: Seizures, Caregivers, National Surveys, Disabilities
Mental Health Problems in Adults with Williams Syndrome
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Stinton, Chris; Elison, Sarah; Howlin, Patricia – American Journal on Intellectual and Developmental Disabilities, 2010
Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…
Descriptors: Developmental Disabilities, Mental Health, Depression (Psychology), Mental Disorders
Self-Injurious Behavior and Fragile X Syndrome: Findings from the National Fragile X Survey
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Symons, Frank J.; Byiers, Breanne J.; Raspa, Melissa; Bishop, Ellen; Bailey, Donald B., Jr. – American Journal on Intellectual and Developmental Disabilities, 2010
We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate…
Descriptors: Topography, Self Destructive Behavior, Autism, Seizures
Obesity, Food Selectivity, and Physical Activity in Individuals with Fragile X Syndrome
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Raspa, Melissa; Bailey, Donald B., Jr.; Bishop, Ellen; Holiday, David; Olmsted, Murrey – American Journal on Intellectual and Developmental Disabilities, 2010
National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (30%). Male children with fragile X syndrome, however, had higher rates of obesity (31%) when compared with…
Descriptors: Obesity, Body Composition, Physical Activities, Physical Activity Level
Monoamine Oxidase a Promoter Gene Associated with Problem Behavior in Adults with Intellectual/Developmental Disabilities
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May, Michael E.; Srour, Ali; Hedges, Lora K.; Lightfoot, David A.; Phillips, John A., III; Blakely, Randy D.; Kennedy, Craig H. – American Journal on Intellectual and Developmental Disabilities, 2009
A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a…
Descriptors: Developmental Disabilities, Males, Genetic Disorders, Mental Retardation
Autism Spectrum Disorder in Children and Adolescents with Fragile X Syndrome: Within-Syndrome Differences and Age-Related Changes
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McDuffie, Andrea; Abbeduto, Leonard; Lewis, Pamela; Kover, Sara; Kim, Jee-Seon; Weber, Ann; Brown, W. Ted – American Journal on Intellectual and Developmental Disabilities, 2010
The Autism Diagnostic Interview-Revised (ADI-R) was used to examine diagnostic profiles and age-related changes in autism symptoms for a group of verbal children and adolescents who had fragile X syndrome, with and without autism. After controlling for nonverbal IQ, we found statistically significant between-group differences for lifetime and…
Descriptors: Autism, Interests, Intelligence Quotient, Interaction
Functional Skills of Individuals with Fragile X Syndrome: A Lifespan Cross-Sectional Analysis
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Bailey, Donald B., Jr.; Raspa, Melissa; Holiday, David; Bishop, Ellen; Olmsted, Murrey – American Journal on Intellectual and Developmental Disabilities, 2009
Parents of 1,105 male and 283 female children with fragile X syndrome described functional skill attainment in eating, dressing, toileting, bathing/hygiene, communication, articulation, and reading. The majority of adult children had mastered many skills independently. Most adults were verbal, used the toilet, dressed, ate independently, bathed,…
Descriptors: Sentences, Intervention, Genetic Disorders, Daily Living Skills