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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Experience over the past 10 years in the diagnosis and comprehensive management of females with Rett syndrome has given us a better understanding of the potential skills and abilities which need to be identified. This condition is unique in that after a period of early regression of development there appears to be stabilization with some improvement. The potential for these girls to achieve some functional skills and maintain them presents a challenge, but one that needs to be addressed. Medical management should include stabilization of uncontrolled seizures. Developing a comprehensive plan for feeding disorders is required so that resulting nutritional problems and constipation can be corrected. Recognition of gastroesophageal reflux and its proper management may prevent respiratory complications. Appropriate intervention strategies using different therapeutic techniques are described which have been effective in facilitating communication, maintaining hand function and ambulation, and preventing deformities. Progression of scoliosis can be managed with intensive physical therapy. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, which is best provided by a team in collaboration with community agencies that serve children with special needs and their families.
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PMID:Rett syndrome: habilitation and management reviewed. 945 32

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.
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PMID:Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). 1005 Nov 71

Rett's syndrome is a neurodevelopmental disorder which is caused by a mutation on the x-chromosome; thus, it only affects the female sex. After seemingly normal postnatal development affected girls lose already acquired mental, motoric and social skills. The last stage of the syndrome is characterized by microcephaly, severe mental retardation, spastic paraparesis, epilepsia, respiratory dysrhythmia, neurogenic scoliosis, abnormal joint alignment and muscle contractures. Rett's syndrome is probably the leading cause for progressive mental retardation in girls, but still it is relatively unknown. This paper describes Rett syndrome and its pathophysiology. The following case report discusses special anesthesiological implications due to the immature cardiorespiratory system and describes a coagulation disorder following treatment with valproic acid.
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PMID:[Rett's syndrome: pathophysiology and anesthesiological implications]. 1054 99

We report 5 girls presenting Rett syndrome. All of them were from south Tunisia. They fulfilled the Rett syndrome diagnosis criteria (The Rett syndrome diagnosis criteria work group, 1988). Pregnancy, birth and psychomotor development during the first year of live were normal. The mean age at the onset was 19.8 +/- 2.5 months. The two revealing symptoms were psychomotor regression (3 cases) and epilepsy (2 cases). They were admitted to our ward at a mean age of 4.7 +/- 1.5 years. Clinical presentation was typical of Rett syndrome. Mental retardation, stereotypic hand movement (hand washing/wringing or clapping/tapping) and loss of purposeful manual skills were noted in all cases. Gait was apraxic and increase of head circumference was slowed. Additional features included, respiratory dysfunction (episodic hyperventilation and breath-holding), epilepsy, scoliosis (4 cases), growth retardation and spasticity (3 cases). Electroencephalography showed slow activity with multifocal epileptiform abnormalities. Sleep enhanced these EEG abnormalities. MRI and CT-scan disclosed non specific cortical and sub-cortical atrophy. All cases were isolated and parents were consanguineous in 3 cases. Rett syndrome is relatively frequent in Europe, but in Tunisia this disease remains rare and certainly underdiagnosed.
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PMID:[Rett's syndrome: report of 5 cases in Tunisia]. 1060 40

We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations in 54 of 71 (76%) sporadic patients and in 2 of 7 (29%) familial cases. We compared electrophysiological findings, cerebrospinal fluid neurochemistry, and 13 clinical characteristics between patients carrying missense mutations and those carrying truncating mutations. Thirty-one of 34 patients (91%) with classic RTT had random XCI. Nonrandom XCI was associated with milder phenotypes, including a mitigated classic RTT caused by a rare early truncating mutation. Patients with truncating mutations have a higher incidence of awake respiratory dysfunction and lower levels of cerebrospinal fluid homovanillic acid. Scoliosis is more common in patients with missense mutations. These data indicate that different MECP2 mutations have similar phenotypic consequences, and random XCI plays an important role in producing the full phenotypic spectrum of classic RTT. The association of early truncating mutations with nonrandom XCI, along with the fact that chimeric mice lacking methyl-CpG-binding protein 2 (MeCP2) function die during embryogenesis, supports the notion that RTT is caused by partial loss of MeCP2 function.
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PMID:Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 1080 43

Rett syndrome is a neurological disorder affecting predominantly females with regression loss of speech and purposeful hand use, after a few months of almost normal development. Postnatal microcephaly, hand dispraxia, stereotypic 'hand-washing' activities, ataxia, and abnormal breathing are among its most characteristic features. Another aspect of this disorder is growth failure. The preserved speech variant (PSV) shares with Rett syndrome the same course and the stereotypic hand-washing activities but it differs in that patients typically recover some degree of speech and hand use and usually do not show growth failure. Progressive scoliosis, epilepsy and other minor handicaps, usually present in Rett syndrome, are rare in the preserved speech variant. Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant. Among the Rett syndrome group, two novel mutational hot spots (R270X and R294X), four novel mutations, two novel small deletions, as well as the previously reported 806delG, R168X and R255X mutations, were identified in 20/25 patients. Of note, among the preserved speech variants, two patients carry deletions of 41 bp and 44 bp each, which are strikingly similar to those observed in classic Rett syndrome. Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form. Phenotype variability is only partially dependent on the kind of MECP2 mutation and other mechanisms such as skewed X-inactivation, and/or modifier gene effects should be investigated to explain the variable recovery in speech and hand use.
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PMID:Preserved speech variant is allelic of classic Rett syndrome. 1085 91

The frequent occurrence of osteoporosis in Rett syndrome raises questions about the etiology of this finding. It is unknown whether there is any relationship between low bone mass and the underlying genetic disorder. We recently had an opportunity to study the status of bone remodeling by quantitative bone histomorphometry in three girls ages 9.75, 13.5, and 14 years, with typical Rett syndrome who required scoliosis surgery.Anterior iliac crest bone biopsies were performed 1-2 days after double labeling of the bone surfaces with tetracycline. Samples were processed for plastic embedding, sectioned, stained, and histomorphometry performed in the cancellous bone. The same observer performed all measurements. Bone volume was reduced, surface parameters of formation (osteoid surface) were normal while parameters of resorption (osteoclast surface and number) were decreased. The rate of bone formation was reduced in the first two girls but could not be measured in the third girl due to lack of double labeling. It may be that the slow rate of bone formation seen in each age group impedes the development and accumulation of peak bone mass and contributes to the decreased bone volume associated with Rett syndrome, although the data is limited. This is the first report to document decreased bone volume determined by quantitative bone histomorphometry in patients with Rett syndrome. With the recent identification of MECP2 mutations in Rett syndrome it is quite likely that genetic factors not only play a major role in brain development but may also influence other organ growth including bone formation.
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PMID:Bone histomorphometry in three females with Rett syndrome. 1173 59

Prospects for definitive therapeutic intervention for Rett syndrome (RS) have been elevated by the discovery of mutations in the methyl-CpG-binding protein 2 gene (MECP2) in more than 80% of females meeting clinical criteria for this disorder. As such, a review of previous clinical trials, descriptions of the status of clinical management for the prominent medical problems of RS, and a preview of an ongoing clinical trial conducted jointly at the Baylor College of Medicine and the University of Alabama at Birmingham are presented. The conduct of controlled clinical trials requires adherence to diagnostic criteria for RS; stratification by age, stage, and presence of MECP2 mutations; and use of clearly defined outcome measures. Previous clinical trials in RS have been conducted with L-carnitine, the ketogenic diet, and the opiate antagonist, naltrexone. The L-carnitine and naltrexone trials were double blind, placebo-controlled and us ed the motor behavioral analysis described in this review. All failed to provide evidence of dramatic improvements in the clinical features of RS. Specific recommendations are presented for clinical management of growth failure, breathing irregularities, seizures, ambulation, scoliosis, gastrointestinal function, self abuse, and habilitation/education although systematic evaluations of each in the context of RS have not been conducted. The only ongoing trial involves dietary supplementation with folate and betaine and is based on the finding that gene expression of some alleles of the agouti gene could be altered by dietary methyl supplementation. The availability of animal models expressing mutations in MECP2 should enhance the evaluation of innovative therapies for RS.
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PMID:Clinical trials and treatment prospects. 1211 36

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
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PMID:Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 1261 69

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.
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PMID:Findings from a multidisciplinary clinical case series of females with Rett syndrome. 1272 40


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