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

The occurrence of signs and symptoms in the Rett syndrome (RS) was analyzed in a series of females born 1945-87 (median age 17 1/2 years) and fulfilling the diagnostic criteria for classic RS. For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related subgroups: the youngest 20, born 1980-87 (group B); the 34 girls born 1970-79 (group C); and the oldest 37, born 1945-69 (group D). Data from group A indicated a developmental stagnation (stage I) at median age 11 (5-24) months and loss of ability to use acquired skills (stage II) at 19 (12-36) months. Group B displayed subtle prodromes in the first months of life, and later in infancy gross motor delay with insufficient equilibrium control. Development invariably came to a definite break at a crucial stage of maturation and was followed by a remarkable "awakening" and return of interest to act and interact (stage III). Loss of skills belonged to the triad contact/communication, hand use/skill, and babble/words. By age 2 1/2 years, apraxia and involuntary and stereotyped movements, were found in all. Seizures, hyperventilation and spells of screams and laughter were more frequent in group C (94%, 65% and 71%, respectively), and breathholding, bloating and drooling in group D (73%, 43% and 81%, respectively). Plantar flexion and abiotrophy of feet, as well as peroneal weakness and scoliosis, increased with age and was found in 89%, 86%, and 89%, respectively. The sequence of events described, emerged as subtle insufficiency and more or less abruptly turned into loss. Conversely to known progressive encephalopathies, the deterioration was followed by excess of activity, only years later to turn into restriction.
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PMID:Age-related occurrence of signs and symptoms in the Rett syndrome. 137 44

We report the clinical, laboratory, and magnetic resonance imaging results of 4 adult patients (ages 25, 26, 29, and 35 years) with stage IV Rett syndrome. The patients were diagnosed at an institution for the handicapped. Two of them had been previously diagnosed as having cerebral palsy. All were microcephalic and had seizures, although the frequency of seizures decreased with advancing age. Three patients had scoliosis. Magnetic resonance imaging demonstrated marked craniofacial disproportion in 2 patients, bilateral atrophy of the frontotemporal lobes in 3, and cerebellar atrophy in 1. The cerebrospinal fluid concentrations of biopterin and homovanillic acid did not differ significantly in these Rett syndrome patients from age-matched controls.
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PMID:Four adult Rett patients at an institution for the handicapped. 193 Apr 21

We reviewed nine patients with Rett syndrome, a progressive encephalopathy that is being diagnosed more frequently in the United States. It occurs in females, causing mental deterioration, autistic behavior, and classic hand-wringing motion. The orthopaedic manifestations include scoliosis, lower extremity contracture, and coxa valga. Bracing and surgery are indicated to prevent or correct deformity and maintain ambulation.
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PMID:Orthopaedic manifestations of Rett syndrome. 201 May 22

A survey on spinal deformity was conducted by means of a questionnaire mailed to the 350 American families who are members of the International Rett Syndrome Association. 258 questionnaires were completed and further information (medical records and radiographs) was received from treating physicians. Scoliosis was present in 119 patients, whose clinical details are discussed. Patients with Rett syndrome frequently develop progressive scoliotic deformities. The incidence increases with age, occurring most commonly during the second decade. Bracing to control curve progression has been largely unsuccessful for adolescent patients.
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PMID:The incidence and natural history of scoliosis in Rett syndrome. 226 5

Of 32 patients with classical Rett syndrome, radiographs of the spine could be obtained in 30; two had moved. Five (17%), ranging in age from 3.2-11.5 years, had a curve of 10 degrees or less. Twenty-five (83%) had scoliosis. The age at first diagnosis of scoliosis ranged from 4.3 to 18 years of age. The curves ranged from 10 degrees to 86 degrees at a mean age of 14.9 years. Eight of the 21 curves, 38 percent, showed progression, which was first noticed from just before 5 to after 18 years of age. Bracing was done in five of the younger girls with progressive curves at ages 8.3-10.4 years. Three required surgery, performed at ages 10.9, 16.2 and 17.3 years respectively. Physicians following these patients need to refer them for orthopedic care at the first suspicious sign of scoliosis. Orthopedic surgeons taking care of children with the Rett syndrome (RS) should be aware of the clinical unpredictability of the scoliosis in this condition.
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PMID:Scoliosis in the Rett syndrome. 234 11

The Rett syndrome (RS) is associated with a neurological form of scoliosis. From 1985 we have instituted a postal survey of families with Rett girls. The prevalence of scoliosis in the survey population is 64%. The age at onset of scoliosis has a normal distribution about a peak age of 8 years, with 72% of cases occurring before age 8. The scoliosis in RS is typically a long thoracolumbar curvature that progresses rapidly in girls over the age of 10 years. Operative treatment is successful in reducing the curvature, preventing curve progression and improving spinal balance for sitting and walking. The 5 girls who walked pre-operatively are still able to do so.
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PMID:Scoliosis in the Rett syndrome: natural history and treatment. 234 12

Profile and variation of gross motor disability and neural impairments were studied in a series of 30 women, aged 22-44 years, fulfilling the diagnostic criteria for the Rett syndrome (RS). The sequential development of neurological signs and a movement disorder causing immobility in 80% were found. On the basis of acquired and sustained walking ability, the women could be divided into three groups: one comprising those 20% still walking (group III), one those 60% previously walking (group IVA) and the third those 20% who had never developed walking ability (group IVB). Spastic signs, seldom prominent, were found in all the three groups, while dystonic signs were most common in those previously walking, and weakness and wasting in the group that never acquired that skill. Early progressive scoliosis, peroneal weakness and excavated feet, interpreted as lower motor neuron signs mainly due to spinal tract impairment, were most extensive among those never able to walk. Loss of walking was considered a consequence of deranging combinations of weakness and dystonia. The patterns of neuromotor disturbances are discussed in relation to other manifestations of RS.
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PMID:The Rett syndrome: gross motor disability and neural impairment in adults. 234 19

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

Twenty-three of 36 patients (64%) with Rett syndrome showed orthopedic problems at an average age of 8 years 7 months. Sixteen patients had spinal deformities (45%), six had scoliosis, one had sagittal deformity, and nine had scoliosis with sagittal deformity. Eight patients with scoliosis have shown progression, with two patients requiring surgery. Thirteen patients (36%) exhibited joint contractures; three of them have required surgery. Ten fractures occurred in five patients (14%). Coxa valga was present in all 14 hips. Skeletal ages in four preadolescent patients were normal.
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PMID:Orthopedic aspects of Rett syndrome: a multicenter review. 279 29

Two elderly females with Rett syndrome are reported with evidence of a slowly progressive central and distal peripheral nervous system involvement. Thermography in 4 girls confirmed distal hypothermia of the extremities in a glove and stocking distribution. Unilateral sympathectomy during surgery for scoliosis in one of them resulted in increased warmth and physical growth of the foot and nails, compared to the uninjured side. This suggests increased sympathetic tone as the probable cause of distal hypothermia, vasomotor instability and dystrophy of the feet in this disorder. In an attempt to identify a marker, girls with clinically classical Rett syndrome had plasma and urinary cell evaluation for an unusual glycolipid. A blind study using a small number of patients failed to prove absolute specificity and additional studies are required to evaluate its validity as a marker for Rett syndrome.
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PMID:Rett syndrome: new observations. 282 48


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