1/54. monosomy 18q syndrome and atypical rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of rett syndrome. cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of rett syndrome.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
2/54. bruxism in rett syndrome: a case report.rett syndrome is a unique and puzzling disorder noted in females and is possibly caused by fundamental failures in critical brain connectivity during early infancy. The most frequent habits in rett syndrome are hand sucking or biting, bruxism and mouth breathing. Children with musculoskeletal disorders and children who suffer from mental retardation commonly grind their teeth. A five year old female case with rett syndrome is presented with significant bruxism in this article.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
3/54. Male rett syndrome variant: application of diagnostic criteria.Classic rett syndrome (RS) has been described in females only. Although an x chromosome origin is probable, it has not been substantiated. It is possible, therefore, that RS could occur in males. The authors describe a male with RS and review all the reported cases involving male patients. The authors compare their patient to the other patients and examine the applicability of the classic RS diagnostic criteria to this variant. To date, nine male patients with RS have been reported. The authors describe an additional male who met seven of nine necessary criteria and six of eight supportive criteria as defined by the RS Diagnostic Criteria work Group. When the authors applied these criteria to the other nine reported patients, many necessary inclusion criteria were not met despite the absence of exclusion criteria. The supportive criteria were even more variable and limited in many patients. In conclusion, males with RS appear to represent a heterogeneous phenotype, with clinical features that may meet many but not all of the necessary diagnostic criteria of classic RS. Less restrictive criteria are needed to include this variant, which should be considered when evaluating males with idiopathic developmental regression, autistic features, and loss of hand function.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
4/54. rett syndrome: photographic evidence of rapid regression.rett syndrome is known to occur in females, around the second year, with loss of hand use, onset of stereotypes and acquired microcephaly. Such regression is often very rapid, but this has never been documented. In one of our patients, photographs taken at different times clearly demonstrate the rapid progression of first symptoms. Moreover, in the present case, the occurrence of a febrile illness, which preceded the onset of the neurological picture, support the hypothesis that environmental factors may trigger the onset of rett syndrome in genetically predisposed subjects.- - - - - - - - - - ranking = 86012.447801768keywords = hand use, hand (Clic here for more details about this article) |
5/54. Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of rett syndrome.We report a 12-year-old girl with features of the syndrome of microcephaly, mesobrachydactyly, and tracheoesophageal fistula, who also developed distinctive features of rett syndrome including regression of milestones with repetitive actions, autistic-like behavior, stereotypic hand movements, and seizures. This unique combination of clinical manifestations appears to constitute a "new syndrome." We speculate that this association may represent a contiguous gene syndrome.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
6/54. Analysis of aberrant behaviour associated with rett syndrome.PURPOSE: The purpose of this study was to identify the variables involved in the maintenance of aberrant behaviours associated with rett syndrome. The occurrence of aberrant behaviours associated with rett syndrome is typically attributed to biological variables associated with the disorder. In some cases. however, these behaviours have been shown to be sensitive to manipulations of environmental variables (i.e. operant contingencies). However, little research exists regarding the variables involved in the maintenance of these behaviours and the manner in which these variables can be manipulated to effectively reduce the occurrence of these behaviours. METHOD: We conducted functional analyses of the aberrant behaviours exhibited by two females diagnosed with rett syndrome. Following the functional analyses, treatments were developed to disrupt the relationship between the aberrant response and the reinforcer maintaining it. RESULTS: Results from the functional analysis suggested that in both cases the aberrant behaviours (i.e. hand wringing and hand mouthing) were maintained by automatic reinforcement. Treatment, which included interrupting hand wringing for one individual and preventing hand mouthing for the other participant, resulted in dramatic changes in the levels of aberrant behaviour for both participants. These changes suggested that preventing reinforcement delivery reduced the motivation to engage in aberrant behaviour. CONCLUSIONS: These results suggest that operant variables can be manipulated to influence the occurrence of aberrant behaviour associated with rett syndrome.- - - - - - - - - - ranking = 4keywords = hand (Clic here for more details about this article) |
7/54. rett syndrome and ageing: a case study.PURPOSE: This case study of an elderly women with rett syndrome is used to consider whether observed changes may be related to physiological processes involved in ageing or environmental adaptations, which is important for delivery of rehabilitation. METHOD: The life story of a woman with rett syndrome who lived to the age of 60 is presented. It is based on medical records, older and more recent videotapes, and interviews with her sister and care staff. RESULTS: After 21 years without walking, following intensive physiotherapy, she regained the ability to walk without support. She also showed improvement in hand use a few years before she died. During the early regression she appeared to lose social interest. The interest improved after some time, but she remained wary of people she did not know. CONCLUSION: The walking and hand use indicate that these functions may have been present to a greater extent than assumed by people in the environment and that her poor function reflects dyspraxia and lack of opportunity and training rather than lack of ability. Although more studies of elderly women with rett syndrome is needed to answer whether the observed changes were due to physiological processes involved in ageing or environmental adaptations, the present case story demonstrates that identification of females with rett syndrome is important at all age levels.- - - - - - - - - - ranking = 172024.89560354keywords = hand use, hand (Clic here for more details about this article) |
8/54. MECP2 is highly mutated in X-linked mental retardation.Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2. These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked mental retardation (MRX), prompted us to investigate MECP2 in MRX families. Two novel mutations, not found in RTT, were identified. The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28. In view of these data, we screened MECP2 in a cohort of 185 patients found negative for the expansions across the FRAXA CGG repeat and reported the identification of mutations in four sporadic cases of MR. One of the mutations, A140V, which we found in two patients, has been described previously, whereas the two others, P399L and R453Q, are novel mutations. In addition to the results demonstrating the involvement of MECP2 in MRX, this study shows that the frequency of mutations in MECP2 in the mentally retarded population screened for the fragile x syndrome is comparable to the frequency of the CGG expansions in FMR1. Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
9/54. social facilitation of object-oriented hand use in a rett syndrome variant girl: implications for partial preservation of an hypothesized specialized cerebral network.Partial preservation of object-oriented hand use (OOHU) was studied behaviorally in a 6-1/2-year-old girl with the preserved speech variant (PSV) of rett syndrome (RS), associated with a T 158 missense MeCP2 mutation and favorably skewed X-inactivation. At home, OOHU was limited except for self-feeding. When examined, overall time invested in toy play was only 38% of that of healthy subjects, and also, by comparison with healthy subjects, less when autonomous than when socially-facilitated (13% vs 63%). Good interest in and responsiveness to people translated into better motivation for OOHU. She responded to others' requests for grasping and handling objects and used them to reinforce affiliations with people. Results were discussed in terms of a disruption of the formation of a specialized OOHU cerebral network in RS, partially compensated for by the favorably skewed X-inactivation, which among other effects permitted functional retention of the network segment incorporating social influence and motivation.- - - - - - - - - - ranking = 430063.23900884keywords = hand use, hand (Clic here for more details about this article) |
10/54. Lamotrigine in two cases of rett syndrome.rett syndrome (RS) is a particular neurodevelopmental disorder in which symptoms develop in early infancy and manifests particular symptoms at certain ages. Two girls aged 4.5 and 2.5-years-old were admitted with complaints of seizures, regression of language, psychomotor development, and autistic behavior. They had fulfilled the criteria of classic RS. Lamotrigine was used in the treatment of the convulsions. After lamotrigine therapy, the convulsions were successfully controlled and the stereotyped hand movements and autistic behaviors markedly decreased. We would like to stress that, aside from convulsion, abnormal signs of the syndrome such as stereotyped hand movements and autistic behaviors might also be improved with lamotrigine, but detailed and controlled studies should be performed to identify whether lamotrigine has any positive effects in RS.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
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