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

Rett syndrome (RTT) is a neurodevelopmental disorder which is diagnosed clinically. We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation. In these 24 females, the clinical manifestations, degree of severity, and disorder profiles are discussed as well as the genotype phenotype correlation. After X-chromosome inactivation (XCI) study in these cases, we found no correlation between skewing and milder phenotype. Three large deletions were found after additional Southern blot analysis in three classical RTT cases. We confirm that early truncating mutations in MECP2 are responsible for a more severe course of the disorder. Three disorder profiles related to the missense mutations R133C and R306C, and to deletions in the C terminal segment are described and are of interest for further clinical study on larger numbers of cases. The R133C genotype has a predominantly autistic presentation while the R306C genotype is associated with a slower disease progression. The phenotype of the "hotspot" deletions in the C terminal segment is predominantly characterized by rapid progressive neurogenic scoliosis. Older women with RTT are underdiagnosed: seven adults were first diagnosed as having RTT between 29 and 60 years of age, and confirmed on finding a MECP2 mutation. Knowledge of the clinical phenotype of RTT at an adult age is important for all involved in the care of these individuals. The involvement of the parent support group is very important in this matter.
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PMID:Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 1296 23

The etiology of frequently occurring osteoporosis in Rett syndrome is unknown. Five girls, ages 9.75, 11, 12, 13.5, and 14 years, with typical Rett syndrome requiring scoliosis surgery presented an opportunity to study bone remodeling by quantitative bone histomorphometry. Anterior iliac crest bone biopsies taken 1 to 2 days after double labeling of the bone surfaces with tetracycline were submitted for histomorphometry. Bone volume was reduced, and the surface parameters of formation (osteoid surface) were normal, whereas the parameters of resorption (osteoclast surface and number) were decreased. In four girls, the rate of bone formation was reduced but could not be measured in one girl owing to poor labeling. It is possible that the slow rate of bone formation impedes the development and accumulation of peak bone mass and contributes to the decreased bone volume in Rett syndrome. Perhaps MECP2 mutations in Rett syndrome not only influence brain development but also affect bone formation.
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PMID:Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies. 1464 52

The British Isles Survey for Rett Syndrome stores longitudinal health data from clinical examinations and postal questionnaires to monitor health and severity in Rett syndrome, including the presence and severity of scoliosis and the effects of corrective surgery. Scoliosis is rarely present at birth (3% before regression) but usually appears by 25 years (87%). The degree tends to increase with growth and by 16 to 20 years, 43% (75 of 173) of cases with classic Rett syndrome reported severe or operated scoliosis. Surgical correction was reported in 91 classic cases. Following initial postoperative recovery, families considered that the operation had improved general well-being for 84% of individuals (42 of 50 classic cases with postoperative health reports). Thirteen of 50 patients walked independently before surgery, and 12 patients did so following surgery; 2 stopped walking, and 1 who had not walked began to do so. Scoliosis surgery usually benefited sitting posture (82% better, 10% worse), chest episodes (52% better, 6% worse), and digestion of food (42% better, 6% worse). However, toilet function was improved in only 10% and deteriorated in 20%. Families reported short-term problems at operation in 48% (24 of 50) and minor recurrence of scoliosis in 22% (11 of 50). Surgery in a specialized unit is satisfactory management for severe scoliosis in Rett syndrome. Recommendations include planning for surgery when the curve passes 40 degrees, ensuring optimal nutrition before and after surgery, robust fixture of the whole spine in two stages, familiarization of the surgical team with the individual and the disorder before the operation, and inclusion of the main carer in the hospital care team. Parents form an important part of the management team. Families also require support during and after this stressful major procedure.
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PMID:Results of surgery for scoliosis in Rett syndrome. 1464 53

Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome. The present study describes a new management approach implemented with a girl with Rett syndrome. The core of the management regime was intensive: asymmetrical activation of trunk muscles through equilibrium reactions. The X-rays accompanying the article (evaluated by four experienced orthopedic surgeons blinded to the intervention process) suggested that the intervention was successful in reversing the progress of the scoliosis for the above-mentioned child. Discontinuation of treatment led to severe and rapid deterioration of the spinal curve. Due to the fact that this was a case study, generalization is limited, but we suggest further investigation and studies with this method.
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PMID:Managing scoliosis in a young child with Rett syndrome: a case study. 1579 86

The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Rett syndrome in Sweden in 1997 provided us with families' description of early development in gross motor function, fine motor function and communication/social interplay. Best abilities before regression were presented, 62% lost their best abilities, 22% kept them and 5% kept them with deterioration. Seventy-three percent learnt to walk, 20% stopped walking and 2% retrained walking. Concerning feeding, 69% learnt to feed themselves, 57% lost this ability, 7% retrained the ability and 5% learnt to feed after regression. Sixty-four percent were one year or younger when there was a deviation in development. Sixty answers reported the girl was late in developing functions while 35 reported sudden loss of reached abilities. Seventy-four percent developed a scoliosis and 83% reported other deformities; of these, deformities in feet were the most common. Postural control was poor since all but 15 girls/women learnt in different directions when sitting. Transitional movements were difficult to perform. In 80% of cases, the families were those who suspected early that something was wrong in the child's development. Because of this it is essential that medical staff is aware of the different ways RS develops in order to give families early appropriate support and a plan for intervention. Since there is not only loss of function in this group but also kept abilities, retrained abilities and abilities achieved after regression, more research has to be focused on management and treatment to help persons with Rett syndrome keep and develop abilities according to their individual resources.
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PMID:Rett syndrome from a family perspective: The Swedish Rett Center survey. 1618 88

We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations. After his older sister was diagnosed with atypical Rett syndrome; MECP2 mutation studies on him revealed a pathogenic mutation. His mother is a Rett carrier with a skewed inactivation of chromosome X. Clinical signs and symptoms required to meet the criteria for diagnosis of Rett syndrome have gradually evolved over time. This case demonstrates an unusual family history for Rett syndrome and alerts readers to the utility of screening males for Rett syndrome.
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PMID:Clinical profile of a male with Rett syndrome. 1618 90

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. Following apparently normal development, these girls typically regress and lose previously attained cognitive, social, and motor skills. Severe intellectual and physical disabilities remain throughout life. Mutations in the methyl-CpG-binding protein 2 gene, MECP2, are detected in approximately 80% of cases and are associated with phenotypic variability. Population-based data on Australian cases were used to study the association between early developmental and genetic factors and the onset of scoliosis. The median age at scoliosis onset was 9.80 years, and three quarters of subjects had developed scoliosis by 13 years of age. Children with compromised early development before 6 months, those who were less mobile at 10 months, and those who never walked were more likely to have an earlier onset of scoliosis. When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis.
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PMID:Predictors of scoliosis in Rett syndrome. 1697 Aug 93

Individuals with Rett syndrome (RS) present a vast array of orthopedic and neurological difficulties. Typical problems, which may need to be addressed, when treating this population are functional limitations, low cardiovascular capacity, hypotonia, ataxia, apraxia, loss of transitional movements, spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of hand function, foot deformities, and spatial disorientation. Coping with such difficulties and overcoming the associated limitations carry a wearisome task for the individual with Rett as well as for her family. An informed and intensely applied physical therapy regime can help the child and the family cope and even overcome the above-mentioned limitations. The present article presents some insights regarding the intervention with individuals with RS, an overview of typical neuromuscular problems associated with RS, and appropriate suggestions pertaining to clinical intervention that have been found to contribute to this population's well-being. The information presented is mainly based on the clinical knowledge of the authors.
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PMID:Physical therapy intervention for individuals with Rett syndrome. 1704 20

Severe scoliosis in Rett syndrome is an important orthopedic, neurologic, and pediatric problem. The curve in Rett syndrome is of a neurologic type, has its highest incidence during early childhood, and shows rapid progression. In this study, the authors report the results of a 4-year follow-up of a 10-year-old Rett syndrome female patient with early onset and severe rapid progressive thoracolumbar scoliosis. The first signs of spinal deformity were documented at age 3 years. During adolescence, the patient developed a 115-degree thoracolumbal scoliosis with reduced respiratory volume due to a collapsing spine syndrome. To stop this life-threatening progression of the curve, the patient was treated by a 2-stage surgical procedure. The combination of an anterior release, halo traction, and posterior instrumented fusion from Th3 to L5 using a computer-assisted technique was performed. An excellent reduction of the deformity was achieved (postoperative 24-degree Cobb angle). After 4 years, the authors found a radiologically solid spinal fusion and no progression of the deformity. Operative treatment regimes and etiology of severe spinal deformities in Rett syndrome were discussed. The high perioperative risks in Rett syndrome patients who underwent spinal surgery may be reduced by an early cooperation between orthopedic and pediatric specialists. When considering recent data from literature, it can be concluded that an early correction of spine deformities in Rett syndrome patients may prevent a life-threatening collapsing spine syndrome.
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PMID:How to prevent small stature in Rett syndrome-associated collapsing spine syndrome. 1762 26

The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups. This study made use of a total of 313 cases recorded in two databases: the Australian Rett Syndrome Database (ARSD) and the International Rett Syndrome Phenotype Database (InterRett). Cases with an initial diagnosis of autism had significantly milder Rett syndrome symptoms and were more likely to remain ambulant, to have some functional hand use and not to have developed a scoliosis. Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age. We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome.
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PMID:The diagnosis of autism in a female: could it be Rett syndrome? 1768 68


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