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Comparison of the Presence and Absence of an Intervention to Reduce Hand Stereotypies in Individuals with Rett Syndrome
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Hirano, Daisuke; Goto, Yoshinobu; Shoji, Hiroaki; Taniguchi, Takamichi – Journal of Applied Research in Intellectual Disabilities, 2022
Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…
Descriptors: Genetic Disorders, Behavior Problems, Intervention, Age Differences
Motor Competence in Children with CHARGE Syndrome
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Perreault, Melanie; Haibach-Beach, Pamela; Lieberman, Lauren; Foster, Elizabeth – Research and Practice for Persons with Severe Disabilities, 2021
Children with Coloboma, Heart defects, Atresia choanae, Restricted growth, Genital hypoplasia, and Ear abnormalities (CHARGE) syndrome have many sensory impairments that can cause delays in motor development impacting physical activity, health, and quality of life. However, only one limited study has investigated motor competence in children with…
Descriptors: Genetic Disorders, Psychomotor Skills, Physical Disabilities, Age Differences
What School Psychologists Should Know about Multiple Sclerosis
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Phillips, Ashley N.; Maricle, Denise E. – Journal of the American Academy of Special Education Professionals, 2021
Multiple sclerosis is an inflammatory autoimmune disease that attacks the central nervous system through the destruction of myelin. Frequently cited symptoms include cognitive impairment as a hallmark repercussion, neuropsychological executive dysfunction, and psychosocial disturbances, such as affective disorders and fatigue. Other symptomatology…
Descriptors: Neurological Impairments, Physical Disabilities, Cognitive Ability, Symptoms (Individual Disorders)
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
Auditory Phenotype of Smith-Magenis Syndrome
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Brendal, Megan A.; King, Kelly A.; Zalewski, Christopher K.; Finucane, Brenda M.; Introne, Wendy; Brewer, Carmen C.; Smith, Ann C. M. – Journal of Speech, Language, and Hearing Research, 2017
Purpose: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. Method: Hearing-related data were collected for 133 individuals with SMS aged 1-49 years. Audiogram…
Descriptors: Genetic Disorders, Audiology, Hearing Impairments, Age Differences
Rate and Frequency of Bullying Victimization in School-Age Children with Neurofibromatosis Type 1 (NF1)
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Holland, Alice Ann; Stavinoha, Peter L.; Swearer, Susan M.; Solesbee, Cody; Patel, Sarita; Klesse, Laura J. – School Psychology, 2019
Children and adolescents with the genetic, tumor predisposition syndromeneurofibromatosis type I (NF1) have varying degrees of physical stigmata characteristic of the disease and experience high rates of social difficulties. The present study was the first to formally examine the rate (i.e., percentage of participants) and frequency of bullying…
Descriptors: Victims, Bullying, Genetic Disorders, Student Attitudes
Social Impairments in Rett Syndrome: Characteristics and Relationship with Clinical Severity
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Kaufmann, W. E.; Tierney, E.; Rohde, C. A.; Suarez-Pedraza, M. C.; Clarke, M. A.; Salorio, C. F.; Bibat, G.; Bukelis, I.; Naram, D.; Lanham, D. C.; Naidu, S. – Journal of Intellectual Disability Research, 2012
Background: While behavioural abnormalities are fundamental features of Rett syndrome (RTT), few studies have examined the RTT behavioural phenotype. Most of these reports have focused on autistic features, linked to the early regressive phase of the disorder, and few studies have applied standardised behavioural measures. We used a battery of…
Descriptors: Interaction, Factor Analysis, Severity (of Disability), Interpersonal Competence