Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study

This study aimed  to determine whether there is a relationship between abnormal foot position and standing and walking ability in individuals with Rett syndrome (RTT), a rare neurological condition primarily affecting females, often accompanied by impaired gross motor function and musculoskeletal deformities. Throu gh means of an online survey, physiotherapists were asked to share information about their work and experience with individuals with RTT. They were asked about their clients’ scores on the Rett Syndrome Gross Motor Scale and measures of their foot deformity, passive range of motion of dorsiflexion of the foot, use of supportive footwear, pressure load on the foot, and symmetry in weight bearing. 45 physiotherapists gave answers relating to 67 individuals with RTT who ranged in age from 2 to over 50 years. Almost 80% had an abnormal foot position which required support of special shoes or or thoses. Approximately 55% experienced abnormal pressure load on the foot and 65% demonstrated asymmetrical weight-bearing; 22% could sit independently and 17% were able to stand and walk independently. Of all the variables investigated, only abnormal distribution of pressure on the foot and asymmetr y in weight bearing through the legs were found to be (negatively) correlated with standing and walking ability. Physiotherapists can use this information to give advice on othopedic support for the feet of individuals with RTT.
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research

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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
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