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Direct linkCazalets, 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
Tedroff, Kristina; Eriksson, Jonna M.; Bejerot, Susanne – Research in Autism Spectrum Disorders, 2013
Individuals with autism have higher rates of minor physical anomalies (MPAs) than neurotypical persons. Minor physical anomalies are slight morphological deviations typically harmless and without cosmetic or medical importance to the individual but indicative of an underlying neurodevelopmental disorder. In genetic autism research the utilization…
Descriptors: Autism, Photography, Adults, Pervasive Developmental Disorders
Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…
Descriptors: Down Syndrome, Psychomotor Skills, Physical Disabilities, Genetic Disorders
Galli, Manuela; Rigoldi, Chiara; Celletti, Claudia; Mainardi, Luca; Tenore, Nunzio; Albertini, Giorgio; Camerota, Filippo – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
The goal of this work is to analyze postural control in Ehlers-Danlos syndrome (EDS) participants in time and frequency domain. This study considered a pathological group composed by 22 EDS participants performing a postural test consisting in maintaining standing position over a force platform for 30 s in two conditions: open eyes (OE) and closed…
Descriptors: Rehabilitation, Muscular Strength, Genetic Disorders, Human Posture
Angkustsiri, Kathleen; Krakowiak, Paula; Moghaddam, Billur; Wardinsky, Terrance; Gardner, Jerald; Kalamkarian, Nareg; Hertz-Picciotto, Irva; Hansen, Robin L. – Autism: The International Journal of Research and Practice, 2011
Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with…
Descriptors: Genetic Disorders, Autism, Seizures, Genetics
Webb, Carol L. – Learning Disabilities: A Multidisciplinary Journal, 2005
This study addresses parental perspectives and coping strategies related to Duchenne muscular dystrophy and specific learning disabilities. Data were collected through individual semi-structured in-depth interviews with fifteen sets of parents. Participants were selected based on variables such as age of children, number of children with both…
Descriptors: Grounded Theory, Parent Attitudes, Learning Disabilities, Coping
