The effect of a traditional dance training program on dynamic balance of individuals with mental retardation

The purpose of this study was to evaluate the influence of a Greek traditional dance training program on the dynamic balance of individuals with mental retardation (MR). A total of 17 individuals participated in this study. Ten individuals with mild or moderate MR and 7 individuals with mild or moderate MR who studied in special schools were assigned to intervention (MR-I) and control (MR-C) groups, respectively. Pretraining and posttraining exercise tests were performed to determine the dynamic balance ability. Dynamic balance ability was measured by means of a balance deck (Lafayette, Lafayette, IN, USA) in 30-, 45-, and 60-second intervals. The MR-I group underwent a 16-week Greek traditional dance training program at a frequency of 3 times per week and for a duration of 45 minutes per season. Posttraining results showed that the individuals with MR in the MR-I group improved during treatment, from their baseline scores on dynamic balance measurements (30 seconds: p < 0.01, 45 seconds: p < 0.05, 60 seconds: p < 0.05). The MR-C group did not show any improvement between the 2 measurements. In conclusion, individuals with MR may be able to improve their dynamic balance when performing a systematic and well-designed Greek traditional dance training program.     

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.

A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.     

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene

The purpose of this study was to identify a gene causing non-syndromic X-linked mental retardation in an extended family, taking advantage of the X chromosome inactivation status of the females in order to determine their carrier state. X inactivation in the females was determined with the androgen receptor methylation assay; thereafter, the X chromosome was screened with evenly spaced polymorphic markers. Once initial linkage was identified, the region of interest was saturated with additional markers and the males were added to the analysis. Candidate genes were sequenced. Ten females showed skewed inactivation, while six revealed a normal inactivation pattern. A maximal lod score of 5.54 at θ?=?0.00 was obtained with the marker DXS10151. Recombination events mapped the disease gene to a 17.4-Mb interval between the markers DXS10153 and DXS10157. Three candidate genes in the region were sequenced and a previously described missense mutation (P375L) was identified in the ACSL4/FACL4 gene. On the basis of the female X inactivation status, we have mapped and identified the causative mutation in a gene causing non-syndromic X-linked mental retardation.     

Cost-utility of an 8-month aquatic training for women with fibromyalgia: a randomized controlled trial

Introduction

Physical therapy in warm water has been effective and highly recommended for persons with fibromyalgia, but its efficiency remains largely unknown. Should patients or health care managers invest in this therapy? The aim of the current study was to assess the cost-utility of adding an aquatic exercise programme to the usual care of women with fibromyalgia.

Methods

Costs to the health care system and to society were considered in this study that included 33 participants, randomly assigned to the experimental group (n = 17) or a control group (n = 16). The intervention in the experimental group consisted of a 1-h, supervised, water-based exercise sessions, three times per week for 8 months. The main outcome measures were the health care costs and the number of quality-adjusted life-years (QALYs) using the time trade-off elicitation technique from the EuroQol EQ-5D instrument. Sensitivity analyses were performed for variations in staff salary, number of women attending sessions and time spent going to the pool. The cost effectiveness acceptability curves were created using a non-parametric bootstrap technique.

Results

The mean incremental treatment costs exceeded those for usual care per patient by € 517 for health care costs and € 1,032 for societal costs. The mean incremental QALY associated with the intervention was 0.131 (95% CI: 0.011 to 0.290). Each QALY gained in association with the exercise programme cost an additional € 3,947/QALY (95% CI: 1,782 to 47,000) for a health care perspective and € 7,878/QALY (3,559 to 93,818) from a societal perspective. The curves showed a 95% probability that the addition of the water-based programme is a cost-effective strategy if the ceiling of inversion is € 14,200/QALY from a health care perspective and € 28,300/QALY from a societal perspective.

Conclusion

The addition of an aquatic exercise programme to the usual care regime for fibromyalgia in women is cost effective in terms of both health care costs and societal costs. However, the characteristics of facilities (distance from the patients' homes and number of patients that can be accommodated per session) are major determinants to consider before investing in such a programme.

Trial registration

Current controlled trials ISRCTN53367487.

     

Curing mental retardation: searching for balance

Mental retardation (MR) occurs in 2 to 3 % of the general population and is still not therapeutically addressed. Milder forms of MR result from deficient synaptogenesis and/or impaired synaptic plasticity during childhood. These alterations would result from disequilibrium in signalling pathways regulating the balance between long term potentiation (LTP) and long term depression (LTD) in certain neurons such as hippocampus neurons. To provide mentally retarded children with increased cognitive abilities, novel experimental approaches are currently being developed to characterize signalling status associated with MR and to identify therapeutic targets that would restore lost equilibrium. Several studies also highlighted the major role played by molecular switches like kinases, phosphatases, small G proteins and their regulators in the coordination and integration of signalling pathways associated with synaptic plasticity. These proteins may therefore constitute promising therapeutic targets for a number of cognitive deficiencies.     

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. Analysis of DNA polymorphisms of 38 loci spread along the entire chromosome 8 revealed that only maternal alleles were present, distributed in four heterozygous and four homozygous regions. This finding indicated that the rearrangement occurred during maternal meiosis in a chromosome recombinant with a minimum of seven crossovers. To our knowledge this is the first case of uniparental maternal disomy for chromosome 8 and of nullisomy for the distal 1-cM portion of the short arm. The available data are in favour of the assumption that no imprinted genes are present on chromosome 8. Thus, dysmorphisms, motor and mental retardation of the proposita are likely to be caused by the nullisomy for the region distal to D8S264, a region in which a recessive gene for epilepsy with progressive mental retardation is known to be located. Received: 16 December 1996 / Revised: 24 January 1997     

Repeated-sprint and change-of-direction abilities in physically active individuals and soccer players: training and testing implications

The relationship between repeated-sprint ability (RSA) and repeated change-of-direction (RCOD) matched on intervals and distances was investigated in this study. The discrimination abilities of the tests were also examined. Using a within-subject repeated measures design, 25 physically active individuals (ACTs), 16 college soccer players (COL), and 18 professional soccer players (PRO) performed the RSA and RCOD tests during which the fastest time (FT), average time (AT), total time (TT), and percentage decrement score (%Dec) were recorded. We concluded that RSA and RCOD tested separate motor abilities because the shared variance between them in the FT, AT, and TT was ≤50%. Both RSA and RCOD tests were reliable (intraclass correlation coefficient ranged 0.79-0.90) and valid performance assessments in terms of construct in that they discriminated between ACT and soccer players (irrespective of the soccer skill level in this study). Specifically, the FT, AT, and TT (but not %Dec) of RSA and RCOD were significantly higher in ACT as compared with that in both COL and PRO (p < 0.05). Most values of the RSA/RCOD index in COL and PRO were 0.59, which were significantly higher than those of ACT (0.53, p < 0.05). We proposed the use of the RSA/RCOD index with a target value of 0.59 to prioritize and quantify the training needs of RSA and RCOD for soccer players.     

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

We have identified disruptions in the dedicator of cytokinesis 8 gene, DOCK8, in two unrelated patients with mental retardation (MR). In one patient, a male with MR and no speech, we mapped a genomic deletion of approximately 230 kb in subtelomeric 9p. In the second patient, a female with mental retardation and ectodermal dysplasia and a balanced translocation, t(X;9) (q13.1;p24), we mapped the 9p24 breakpoint to a region overlapping with the centromeric end of the 230-kb subtelomeric deletion. We characterized the DOCK8 gene from the critical 9p deletion region and determined that the longest isoform of the DOCK8 gene is truncated in both patients. Furthermore, the DOCK8 gene is expressed in several human tissues, including adult and fetal brain. Recently, a role for DOCK8 in processes that affect the organization of filamentous actin has been suggested. Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation.     

The effect of a combined high-intensity strength and speed training program on the running and jumping ability of soccer players

The purpose of this study was to investigate the effect of a combined heavy-resistance and running-speed training program performed in the same training session on strength, running velocity (RV), and vertical-jump performance (VJ) of soccer players. Thirty-five individuals were divided into 3 groups. The first group (n = 12, COM group) performed a combined resistance and speed training program at the same training session, and the second one (n = 11, STR group) performed the same resistance training without speed training. The third group was the control group (n = 12, CON group). Three jump tests were used for the evaluation of vertical jump performance: squat jump, countermovement jump, and drop jump. The 30-m dash and 1 repetition maximum (1RM) tests were used for running speed and strength evaluation, respectively. After training, both experimental groups significantly improved their 1RM of all tested exercises. Furthermore, the COM group performed significantly better than the STR and the CON groups in the 30-m dash, squat jump, and countermovement jump. It is concluded that the combined resistance and running-speed program provides better results than the conventional resistance training, regarding the power performance of soccer players.     

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

Summary We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site Xq27 confirmed that the fragile X regions inherited by these three brothers were identical from DXS 102 to the telomere. These data highlight the heterogeneity of the fragile X syndrome, which is discussed in the framework of the different hypotheses previously proposed.     

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:)

In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.     

Effects of a plyometric training program with and without added load on jumping ability in basketball players

The purpose of this investigation was to examine the effect of a standard plyometric training protocol with or without added load in improving vertical jumping ability in male basketball players. Twenty-seven players were randomly assigned to 3 groups: a control group (no plyometric training), plyometric training group (PG), and loaded plyometric group (LPG, weighted vests 10-11% body mass). Before and after the 10-week training program, all the players were tested for the 5-jump test (5JT), the squat jump (SJ), and the countermovement jump (CMJ). The PG and LPG groups performed 2 and 3 training sessions per week, during the first 3 and the last 7 weeks, respectively. The results showed that SJ, CMJ, and 5JT were significantly improved only in the PG and LPG groups. The best effects for jumps were observed in LPG (p < 0.01), which showed significantly higher gains than the PG (p < 0.05). In conclusion, it appears that loads added to standard plyometric training program may result in greater vertical and horizontal-jump performances in basketball players.     

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

The 22q11.2 microduplication is a genomic disorder, characterized from a variable phenotype ranging from different defects to normality. The most common microduplication of 22q11.2 is 3 Mb in size, but there are also cases reported with atypical duplications between 0.8 Mb and 6 Mb.     

X-linked mental retardation: many genes for a complex disorder

X-linked mental retardation (XLMR) is a common cause of moderate to severe intellectual disability in males. XLMR is very heterogeneous, and about two-thirds of patients have clinically indistinguishable non-syndromic (NS-XLMR) forms, which has greatly hampered their molecular elucidation. A few years ago, international consortia overcame this impasse by collecting DNA and cell lines from large cohorts of XLMR families, thereby paving the way for the systematic study of the molecular causes of XLMR. Mutations in known genes might already account for 50% of the families with NS-XLMR, and various genes have been pinpointed that seem to be of particular diagnostic importance. Eventually, even therapy of XLMR might become possible, as suggested by the unexpected plasticity of the neuronal wiring in the brain, and the recent successful drug treatment of a fly model for fragile X syndrome.     

Anthropology and mental retardation: Research approaches and opportunities

Although mental retardation is largely a sociocultural phenomenon, anthropological interest in this field has been slow to develop. In recent years, anthropological concepts and methods have been used in study of the community adaptation of mentally retarded persons and societal reactions to them. As an illustration, research developments at the Mental Retardation Research Center, UCLA, are discussed. The need for expanded, collaborative research by social and biomedical scientists is examined. The research puzzles include the links between poverty, ethnicity, schools, families and mental retardation, as well as the nature of intelligence and adaptation.     

X-linked mental retardation with macro-orchidism and marker X chromosomes

Summary A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.     

Sensory impairment in mental retardation: a potential role for NGF

Sensory impairment is defined as the inability to interpret outside stimuli such as visual, auditory, verbal, sense of touch, taste or smell or feelings of pain. This leads to absence of sensation and neuronal coordination. The impairment may be caused by ageing and other physiological changes, accident or injuries or can be found in some cases of mental retardation (MR) also referred to as intellectual disability. Known cases of MR involving inability to accurately interpret an outside source or stimuli are: Fragile-X syndrome; Tuberous sclerosis complex (TSC) with associated autism spectrum disorder (ASD); Rett syndrome; Autism and ASD with or without MR; Chromosome 22q13.3 deletion syndrome; familial dysautonomia, Prader-Willi's syndrome, Williams syndrome. In this review we will discuss in particular form of ASD and altered sensory sensitivity. The role of NGF in causing pronociceptive activity and its role in peripheral sensitisation is discussed under the light of its involvement in forms of MR where loss of pain perception is a main feature due to mutations to NGF receptors or NGF genes during development. Other forms of MR with altered sensory impairment will be considered as well as additional potential mechanisms involved.