Publication Date
| In 2026 | 0 |
| Since 2025 | 1 |
| Since 2022 (last 5 years) | 5 |
| Since 2017 (last 10 years) | 25 |
| Since 2007 (last 20 years) | 52 |
Descriptor
| Genetic Disorders | 52 |
| Physical Disabilities | 52 |
| Children | 20 |
| Psychomotor Skills | 20 |
| Neurological Impairments | 15 |
| Intervention | 13 |
| Adolescents | 12 |
| Symptoms (Individual… | 12 |
| Behavior Problems | 10 |
| Foreign Countries | 10 |
| Adults | 8 |
| More ▼ | |
Source
Author
| Maricle, Denise E. | 4 |
| Galli, Manuela | 3 |
| Hoskin, Janet | 3 |
| Albertini, Giorgio | 2 |
| Camerota, Filippo | 2 |
| Celletti, Claudia | 2 |
| Cimolin, Veronica | 2 |
| Rigoldi, Chiara | 2 |
| Tenore, Nunzio | 2 |
| Aggarwal, Vimla S. | 1 |
| Amalia Tamariz Martel | 1 |
| More ▼ | |
Publication Type
| Journal Articles | 52 |
| Reports - Research | 36 |
| Reports - Descriptive | 9 |
| Reports - Evaluative | 7 |
| Information Analyses | 2 |
| Tests/Questionnaires | 1 |
Education Level
| Elementary Education | 2 |
| Higher Education | 2 |
| Postsecondary Education | 2 |
Audience
| Counselors | 1 |
Location
| United Kingdom | 4 |
| Alabama | 1 |
| California | 1 |
| Germany | 1 |
| India | 1 |
| Russia | 1 |
| Spain | 1 |
| Taiwan | 1 |
| United Kingdom (England) | 1 |
| United Kingdom (London) | 1 |
Laws, Policies, & Programs
| Individuals with Disabilities… | 1 |
Assessments and Surveys
| Vineland Adaptive Behavior… | 3 |
| Mullen Scales of Early… | 2 |
| Pediatric Evaluation of… | 1 |
| Test of Gross Motor… | 1 |
What Works Clearinghouse Rating
Peer reviewed
Direct linkMaría 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
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
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
Damiao, John; Pizzi, Michael; Kiely, Chastity; Ben Are, Sivan; Chitre, Moushumi; Dolan, Anna Bianca; Numa, Darly; Yastion, Magdalena – Journal of Occupational Therapy, Schools & Early Intervention, 2022
Movement and mobility are a significant aspect of early childhood. Assistive technology and adapted mobility can be a critical aspect of the early intervention process by promoting access to play, the environment, social opportunities, and development of visual perceptual and navigational skills. This case study describes the design, materials,…
Descriptors: Early Intervention, Preschool Children, Genetic Disorders, Physical Disabilities
Lee Chin Wong; Chia-Jui Hsu; Yen-Tzu Wu; Hsu-Feng Chu; Jui-Hsiang Lin; Hsin-Pei Wang; Su-Ching Hu; Ying-Chieh Tsai; Wen-Che Tsai; Wang-Tso Lee – Autism: The International Journal of Research and Practice, 2024
This pilot study investigates the feasibility and assesses the impact of "Lactobacillus plantarum" PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study,…
Descriptors: Genetic Disorders, Children, Adults, Intervention
Waito, Ashley A.; Plowman, Emily K.; Barbon, Carly E. A.; Peladeau-Pigeon, Melanie; Tabor-Gray, Lauren; Magennis, Kelby; Robison, Raele; Steele, Catriona M. – Journal of Speech, Language, and Hearing Research, 2020
Purpose: To date, research characterizing swallowing changes in individuals with amyotrophic lateral sclerosis (ALS) has primarily relied on subjective descriptions. Thus, the degree to which swallowing physiology is altered in ALS, and relationships between such alterations and swallow safety and/or efficiency are not well characterized. This…
Descriptors: Human Body, Genetic Disorders, Physiology, Psychomotor Skills
Download full textDelaquis, 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
Ostryn, Cheryl – Journal of the American Academy of Special Education Professionals, 2021
Spinal Muscular Atrophy is a genetic, degenerative disorder, in which individuals become unable to engage in typical motor activities, including speech. The outcome for the most common type of SMA (Type 1), has previously been death before the age of 2, but new medical improvements are showing promising results for life longevity. Research has…
Descriptors: Genetic Disorders, Neurological Impairments, Communication Skills, Physical Disabilities
Jones, Alexis; Plumb, Allison M.; Sandage, Mary J. – Language, Speech, and Hearing Services in Schools, 2021
Purpose: The primary aim of this study was to investigate the extent to which individuals with facial and/or speech differences secondary to a craniofacial anomaly experienced bullying through social media platforms during late school age and adolescence. Method: Using an online survey platform, a questionnaire was distributed via several public…
Descriptors: Bullying, Computer Mediated Communication, Speech Impairments, Physical Disabilities
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
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
Sparkes, Andrew C.; Martos-Garcia, Daniel; Maher, Anthony J. – Sport, Education and Society, 2019
Pupils with disabilities have been found to experience a narrower physical education curriculum and participate less frequently than pupils without disabilities. A lack of knowledge, skills, relevant experiences and confidence amongst physical education (PE) teachers has been said to contribute to these differential educational experiences. This…
Descriptors: Genetic Disorders, Physical Disabilities, Physical Education, Student Participation
Starling, Tamara; Maricle, Denise E. – Communique, 2022
Treacher Collins syndrome (TCS) is a rare genetic disorder that affects the development of bones and tissues of the face and is characterized by deformities of the ears, eyes, cheekbones, and chin. The signs and symptoms of TCS vary greatly, ranging from unnoticeable to very severe manifestations and malformations. This article provides a history…
Descriptors: Genetic Disorders, Symptoms (Individual Disorders), School Psychologists, Student Needs
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
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
