Fostering Locomotion Fluency of Five Adolescents with Rett Syndrome through a Microswitch-Based Program: Contingency Awareness and Social Rating

AbstractWe further extended the use of a microswitch-based program for assessing contingency awareness and promoting locomotion fluency of five adolescents with Rett syndrome. A second goal was to evaluate the effectiveness and the suitability of the rehabilitative intervention on participants ’ indices of happiness as outcome measure of their quality of life and on the reduction of their stereotypic behaviors. Finally, a social validation procedure involving 40 parents of children with severe developmental disabilities and 40 caregivers was carried out. The study was conducted accordin g to an ABABCBCB experimental sequence for each participant, with A representing baselines, B indicating the contingent intervention closely linked to the adaptive responding, and C reporting a non-contingent control phase with positive stimulation occurring throughout the session, irrespective of t he adaptive behavior. Results showed an improved performance for all the participants during contingent intervention phases. The control phases revealed that all participants acquired the contingency awareness. The indices of happiness increased as sign of an enhanced quality of life. Both groups of raters favorably scored the use of such technology. Clinical, practical, and psychological implications of the findings were discussed.
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research

Related Links:

We report seven, unrelated patients with developmental delays or intellectual disability and heterozygous, de novo sequence variants in JMJD1C. All patients had developmental delays, but there were no consistent additional findings. Two patients were reported to have seizures for which there was no other identified cause. De novo, deleterious sequence variants in JMJD1C have previously been reported in patients with autism spectrum disorder and a phenotype resembling classical Rett syndrome, but only one JMJD1C variant has undergone functional evaluation. In all of the seven patients in this report, there was a plausible, ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
AbstractRett syndrome is the second most common cause of intellectual disability in females worldwide. The severity of many individuals ’ impairment limits the effectiveness of traditional assessment. However, clinician and parent reports of adaptive functioning may provide insight into these patients’ abilities. This review aims to synthesize the current literature assessing adaptive functioning in Rett syndrome and evaluate ex isting measurement tools in this population. A search was conducted on PubMed using the search term “Rett syndrome.” Studies that quantitatively assessed adaptive functionin...
Source: Neuropsychology Review - Category: Neuroscience Source Type: research
Abstract Rett syndrome (RTT) is a leading cause of severe intellectual disability in females, caused by de novo loss-of function mutations in the X-linked methyl-CpG binding protein 2 (MECP2). To better investigate RTT disease progression/pathogenesis animal models of Mecp2 deficiency have been developed. Here, Mecp2 mouse models are employed to investigate the role of protein patterns in RTT. A proteome analysis was carried out in brain tissue from i) Mecp2 deficient mice at the pre-symptomatic and symptomatic stages and, ii) mice in which the disease phenotype was reversed by Mecp2 reactivation. Several proteins...
Source: Journal of Proteomics - Category: Biochemistry Authors: Tags: J Proteomics Source Type: research
Conclusions: The results indicate that individuals with Rett syndrome can adapt their kinematic gait patterns in response to increasing treadmill speed, but only within a narrow range of speeds. We suggest that treadmill training for ambulatory individuals with Rett syndrome may promote improved walking kinematics and possibly provide overall health benefits. Implications for rehabilitation Walking is an activity that can counter the negative impacts of the sedentary lifestyle of many individuals with disabilities, including those individuals with Rett syndrome. Documentation of the lower limb kinematic patterns displayed ...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Conclusions: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children.
Source: Pediatric Physical Therapy - Category: Pediatrics Tags: CASE REPORTS Source Type: research
Rett syndrome is a neurodevelopmental disorder characterized by loss of speech and stereotypic movements. The TRAPPC11 protein is a part of the transport protein particle complex involved in endoplasmic reticulum to Golgi transportation. As more individuals with limb-girdle muscular dystrophy are reported, the spectrum of neurological disorders associated with mutations in the TRAPPC11 gene is beginning to emerge. Infantile hyperkinetic movements, ataxia and intellectual disability have been previously published.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
CONCLUSIONS: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children. PMID: 31568388 [PubMed - in process]
Source: Physical Therapy - Category: Physiotherapy Authors: Tags: Pediatr Phys Ther Source Type: research
Abstract Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system. PMID: 31542590 [PubMed - as supplied by publisher]
Source: Current Opinion in Neurobiology - Category: Neurology Authors: Tags: Curr Opin Neurobiol Source Type: research
In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD). Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome. Both males had sick sinus syndrome and severe tracheomalacia that resulted in early death. The mother, with skewed X-inactivation, had no symptoms. Therefore, this mutation is pathological for both males and females, resulting in sick sinus syndrome and severe tracheomalacia with strong reproducibility in males. Deletions involving major domains i...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Publication date: Available online 19 July 2019Source: Molecular Aspects of MedicineAuthor(s): Ebrahim Hosseini, Zahra Bagheri-Hosseinabadi, Ilario De Toma, Moslem Jafarisani, Iman SadeghiAbstractIn the last decade, transcriptome analyses have discovered thousands of long non-coding RNAs (lncRNAs) which are assumed as a fundamental part of the gene regulatory networks in the cell. Intriguingly, lncRNAs are abundantly enriched in the brain, displaying elaborate spatiotemporal expression profiles and modulation. They diversely participate in the delicate regulation of the central nervous system (CNS) development including se...
Source: Molecular Aspects of Medicine - Category: Molecular Biology Source Type: research
More News: Child Development | Children | Disability | Psychology | Rehabilitation | Rett Syndrome | Study