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Orthopedic Conditions and Interplay with Functional Abilities and "MECP2" Variant Subtype in Rett Syndrome Patients
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María Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Supporting Individuals with Rubinstein-Taybi Syndrome in Education
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Delaquis, Breanna – BU Journal of Graduate Studies in Education, 2020
Educators will be tasked with planning for children with many different needs. The aim of this article is to provide specific information about Rubinstein-Taybi Syndrome (RTS) to those who may be interested. This syndrome is rare and has not been well researched. This article contains information about the physical, cognitive, and developmental…
Descriptors: Genetic Disorders, Students with Disabilities, Student Needs, Individual Characteristics
Identification of Spatiotemporal Gait Parameters and Pressure-Related Characteristics in Children with Angelman Syndrome: A Pilot Study
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Grieco, Joseph C.; Gouelle, Arnaud; Weeber, Edwin J. – Journal of Applied Research in Intellectual Disabilities, 2018
Background: Angelman syndrome (AS) leads to clinical manifestations that include intellectual impairments, developmental delay and poor motor function. Initiatives to develop therapeutics imply an urgent need to identify methods that accurately measure the motor abilities. Methods: Six children with AS (6 to 9 years old) walked on an instrumented…
Descriptors: Genetic Disorders, Intellectual Disability, Psychomotor Skills, Developmental Delays
Noonan Syndrome: What School Psychologists Should Know
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Vidovic, Katarina; Maricle, Denise E. – Communique, 2021
Noonan syndrome (NS) is a common genetic disorder that can cause a vast array of health conditions. Characteristics of NS include specific facial features as well as a higher chance of developing congenital heart disease, failure to thrive, and vision abnormalities. These deficits may manifest as behavioral and emotional difficulties, leaving…
Descriptors: Genetic Disorders, School Psychologists, Symptoms (Individual Disorders), Role
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome
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Cazalets, Jean René; Bestaven, Emma; Doat, Emilie; Baudier, Marie Pierre; Gallot, Cécile; Amestoy, Anouck; Bouvard, Manuel; Guillaud, Etienne; Guillain, Isabelle; Grech, Emelyne; Van-gils, Julien; Fergelot, Patricia; Fraisse, Sonia; Taupiac, Emmanuelle; Arveiler, Benoit; Lacombe, Didier – Journal of Autism and Developmental Disorders, 2017
Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing…
Descriptors: Psychomotor Skills, Genetic Disorders, Children, Intellectual Disability
What School Psychologists Should Know about Prader-Willi Syndrome
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Dryden, Mary – Communique, 2019
School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…
Descriptors: School Psychologists, Knowledge Level, Genetic Disorders, Children
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