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Alezzandrini syndrome, Margolis syndrome, Cross syndrome, and other rare genetic disorders
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Athanasios I. Pavlidis, Andreas D. Katsambas
The clinical features of patients with Cross syndrome could include skin hypopigmentation silver-gray/white hair, ocular anomalies, microcephaly, hypotonia, ataxia, spasticity, developmental delay/intellectual disability, brain malformation, growth retardation, recurrent urinary tract infections/malformations, heart malformations, vertebral anomalies, osteoporosis, and acetabular hypoplasia.5,24,25
The role of physical activity and body-related perceptions in motor skill competence of adolescents with autism spectrum disorder
Published in Disability and Rehabilitation, 2020
Chia-Hua Chu, Chia-Liang Tsai, Fu-Chen Chen, Cindy H. P. Sit, Po-Lin Chen, Chien-Yu Pan
First, the current data are cross-sectional and, therefore, do not reflect developmental changes in motor skill competence, physical activity, and physical self-perception. Future research adopting a multicohort, multioccasion design to measure these constructs in the same participants at multiple time points would provide robust support for these developmental changes. Second, the current analyses were conducted using a small sample for each group; hence, prospective longitudinal or experimental studies with larger sample sizes are required to test the causal nature of the associations found in this preliminary investigation. Third, the presence of comorbidity with ASD (e.g., attention deficit hyperactivity disorder, developmental coordination disorder, specific language impairment) was not accounted for. Cross-syndrome comparisons may represent an important method for uncovering specificity of motor atypicalities in ASD.
Contextual effects on semantic grouping in individuals with Down syndrome
Published in International Journal of Developmental Disabilities, 2019
Lopez and Leekam (2003) confirmed the visual effect on semantic grouping in individuals with autism spectrum disorders (ASD). Participants were presented pictures as backgrounds and object pictures as targets in congruent and incongruent conditions on a computer screen and required to make judgments based on semantic appropriateness. The results demonstrated as significant a visual effect on ASD participants as on the TD controls. Subsequently, Hsu (2013b) found cross-syndrome evidence for the effect of visual presentation on semantic grouping in individuals with Williams syndrome (WS) using a similar paradigm. Individuals with WS exhibited the same congruency effect as their MA-matched TD controls. These findings for distinct populations with developmental disorders revealed that visual presentation benefits semantic processing. In this study, we aim to examine whether the visual-without-verbal presentation format benefits semantic grouping in contexts for individuals with DS. If so, additional cross-syndrome evidence of visual effect would be supported. If not, alternative intervention other than a solely visual format for DS individuals should be considered.
Reduced Motor Interference in Preschoolers with Autism Spectrum Disorder and Williams Syndrome
Published in Developmental Neuropsychology, 2018
Giacomo Vivanti, Cheryl Dissanayake, Peter A.J. Fanning, Darren R. Hocking
In conclusion, the current study provides the first cross-syndrome comparison of motor interference in preschoolers with ASD and WS, two disorders that share motor and social cognitive impairments. Challenges that have hampered previous research were addressed through the inclusion of developmentally matched samples of preschoolers with ASD and WS, the use of a TD age-matched comparison group, and by using an eye-tracking paradigm that allowed us to rule out the possibility that group differences in motor interference were due to altered attention to the motor prime actions. The results showed that TD children were slower in executing actions after observing a movement that was incongruent with their intended movement, while this was not the case in young children with ASD and WS.