Systematic review of chronic pain in persons with Marfan syndrome.

The purpose of this study was to explore the literature on chronic pain in adults with Marfan syndrome (MFS), critically appraising and synthesizing relevant literature. A systematic review was conducted by searching the published literature databases using available medical, physical, psychological, social databases and other sources. All studies that addressed pain in MFS, published in peer-reviewed journals were assessed. Of 351 search results, 18 articles satisfied the eligibility criteria. All studies were cross-sectional and quantitative; no randomized controlled trials or intervention studies were found. Most studies had small sample sizes, low response rates and mainly dealt with other aspects of the diagnosis than pain. Only one article dealt mainly with pain. The research on chronic pain in MFS is limited in size and quality. Despite these limitations, studies describe that the prevalence of pain in patients with MFS is high, varying from 47 to 92% and affecting several anatomic sites. In addition, chronic pain limits daily function and few studies describe treatment options for pain in patients with MFS. Research is needed to obtain more evidence-based knowledge for developing more appropriate rehabilitation programs for people with MFS.

Systematic review of the psychosocial aspects of living with Marfan syndrome.

The purpose of this study was to explore the literature on the psychosocial aspects of Marfan syndrome (MFS), to critically appraise and to synthesize relevant literature. A mixed-method systematic review was performed by searching the published literature databases using available medical, psychological, pedagogical and social databases and other sources. All studies that addressed psychosocial aspects of MFS, published in peer-reviewed journals were assessed. Of 81 search results, 15 articles (four articles based on same study population) satisfied the eligibility criteria. All studies were cross-sectional; no intervention or randomized controlled trial (RCT) studies were found. Most studies were of small sample sizes, had low response rate or participants without a verified diagnosis. Despite these limitations, all studies described, that MFS has a significant impact on the psychosocial aspects of people's lives: Decreased quality of life; challenges in education, work and family life, depression and anxiety. Some studies indicated that the subjective perception of discomfort did not necessarily match the medical severity of a disease. The research of the psychosocial aspects of MFS is limited in size and quality. More research is needed on the psychosocial aspects of MFS in samples with a verified diagnosis to develop evidence-based knowledge and appropriate guidelines.

Helping to solve problems associated with spina bifida: 1. Presentation of the TRS Project: organizing services for low frequency diagnostic groups and 2. Cognitive deficits often seen in young adults with spina bifida: effects in the school and work place.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

Dural ectasia in Marfan syndrome: a case control study.

BACKGROUND AND PURPOSE: Dural ectasia (DE) is one of the major criteria of Marfan syndrome (MFS). Our aim was to establish the prevalence of DE in an adult population fulfilling the Ghent criteria for MFS and to assess definitions of DE. MATERIALS AND METHODS: One hundred five adults with suspected MFS were included. MR imaging at 1.5T was performed unless contraindicated; then CT was obtained. Lumbosacral anteroposterior vertebral body diameters (VBD) and dural sac diameters (DSD) were measured. Dural sac ratios (DSR = DSD/VBD) at levels L3 through S1 were calculated. Anterior meningoceles, herniations of nerve root sleeves, and scalloping were characterized. One hundred one sex- and age-matched patients were included as controls. RESULTS: We identified 3 patient groups: 1) fulfilling Ghent criteria independent of DE (n = 73), 2); fulfilling Ghent criteria dependent on DE (n = 14), and 3); and suspected MFS, not fulfilling Ghent criteria (n = 18). DE was found in 86% of group 1. At levels L4-S1, mean DSRs were significantly higher in group 1 than in group 3 and controls (P < .001). Herniations of the nerve root sleeves were present in 73% in group 1 versus 1% in controls. Anterior meningoceles were found in 37% and 14% in groups 1 and 2, respectively, but not in group 3 or controls. CONCLUSIONS: The diagnosis of DE on MR imaging or CT should be based on the presence of at least 1 of the following criteria: anterior meningoceles or nerve root sleeve herniation, DSD at S1 or below larger than DSD at L4, and DSR at S1 >0.59.

[Patients with postpoliomyelitis syndrome in a rehabilitation hospital]. / Pasienter med postpoliosyndrom i rehabiliteringssykehus.

An increasing number of patients with suspected post-polio syndrome are referred to Sunnaas Rehabilitation Hospital. Using a case history as illustration, the article presents the model used for examination and treatment of these patients, based upon clinical observations, functional tests and comprehensive judgement by the rehabilitation team.

[Magnetic tomography of the central nervous system in adults with myelomeningocele]. / Magnettomografi av sentralnervesystemet hos voksne med myelomeningocele.

The Norwegian training and counselling centre for patients with rare disabilities is a national project with the aim of developing new models for services designed to improve the quality of life of these patients. As at 1 July 1997, 130 adults with myelomeningocele were registered users of the Centre. This article is a retrospective review of reports from MRI evaluations of the central nervous system of 61 (40%) of the centre's users, performed in seven departments of radiology. Caput, the craniocervical region and distal parts of the medulla were the most frequently examined areas; the thoracal medulla was examined in half of the cases. There were considerable differences with respect to the structures examined. Enlargement of the lateral ventricles was as frequent in patient without shunt (68%) as in patients with shunt (53%). Dysmorphology of the corpus callosum was seen in 39%. Intracranial structural abnormalities were often described without a report on the intracranial pressure. Herniation of the cerebellar tonsils was reported in 66% of patients, tethering of the spinal cord in 90%, and syringomyelia in 13%. In most cases, MT uncovered conditions with implications for management. We suggest that standard routines should be developed for examinations of the central nervous system of patients with myelomeningocele.

[The significance of associated malformations of the central nervous system in myelomeningocele]. / Betydningen av assosierte misdannelser i sentralnervesystemet ved myelomeningocele.

Neural tube defects are the most frequent congenital structural malformations in Norway. Approximately half of these are myelomeningocele. Infants with myelomeningocele frequently have hydrocephalus at birth. Problems with intracranial pressure may as well develop later. There are several reports on pathological corpus callosum and an increasing number of reports on cognitive problems in patients with myelomeningocele. Most patients with myelomeningocele have a tethered spinal cord, and some have syringomyelia. Chiari malformation type II is a malformation of the skull and brainstem which is frequently observed in individuals with myelomeningocele. Chiari malformation may cause severe respiratory problems in infants. Chiari malformation, tethered cord as well as syringomyelia are associated with a range of neurological problems which may progress in adulthood. Surgical intervention may improve the situation. Anaesthesia may induce neurological complications in individuals with Chiari malformation or syringomyelia. Since pregnancy and childbirth are associated with complications, women with myelomeningocele should be examined before they become pregnant. Children and adults with myelomeningocele should routinely undergo MRI examinations of caput and the spinal cord to clarify their anatomical situation.

[New diagnostic criteria in Marfan syndrome]. / Nye diagnostiske kriterier for Marfans syndrom.

Marfan's syndrome is a relatively frequent autosomal dominant condition which is due to structural or quantitative changes in a connective tissue protein, fibrillin. The syndrome is associated with life-threatening changes in the aorta and serious manifestations in many different organ systems. Unclear diagnostic criteria and lack of use of the criteria in clinical practice may have led to overdiagnosing this syndrome in individuals with a long and slender habitus. This in turn can lead to negative consequences for both the individual and his or her family. Failure of diagnosis may cause even more harm, in particular because of the risk of sudden cardiac events. In 1996 an international group of experts proposed a set of revised criteria for Marfan's syndrome which takes into account molecular findings and family history (the Gent criteria). It is important that all practising physicians are aware of these criteria in order to prevent over- and underdiagnosing. A correct diagnosis is of major importance for medical follow-up, genetic counselling, habilitation, and counselling with regard to education and occupation.

[42 patients with post-polio syndrome. A retrospective study from Sunnaas hospital]. / 42 pasienter med postpoliosyndromet. En retrospektiv undersøkelse fra Sunnaas sykehus.

We describe a retrospective study of 42 patients admitted to Sunnaas Rehabilitation Hospital with suspect postpolio syndrome over a period of two years. The patients were 32 females and 10 males aged 28-74 years (mean 54 years). 29 were married or cohabitant, 31 had children, and 20 were in paid employment. The mean age at onset of polio was 12 years, with an average interval of 36 years between onset of polio and onset of new problems. The mean duration of new health problems was seven years. The most common such problems were pain in muscles and joints, general fatigue and new weakness of the muscles. 28 of the patients needed personal assistance to carry out everyday activities. 33 had braces, crutches or wheelchair for ambulation. Lung function was moderately reduced and physical working capacity was severely reduced. Physiotherapy, ergotherapy and technical aids were provided for 38 of the patients, 16 received assistance to organizing social support or help at home, 13 were helped to make practical changes in their homes, and eight were provided with a wheelchair. According to this study, most patients with the postpolio syndrome need interdisciplinary evaluation and management in a rehabilitation hospital.

[Voiding problems and urinary tract complications in adolescents and adults with myelomeningocele]. / Vannlatingsproblemer og urinveiskomplikasjoner hos ungdom og voksne med myelomeningocele.

BACKGROUND: The aim of this study was to describe voiding dysfunction and urinary tract complications in a population above 16 years of age with myelomeningocele. MATERIAL AND METHODS: 51 persons were included in the study. Data were obtained by questionnaires, ultrasound and glomerular filtration rate; in those with intact urinary bladder, by cystometry and videocystography. RESULTS: 30 out of 33 persons with intact urinary bladder were incontinent. Those with daily incontinence described this as a major problem. Cystometry concluded with normal detrusor contractions in three, detrusor hyperreflexia in five, and a detrusor hyporeflexia in 25 persons. Three out of 30 had vesicoureteral reflux. Ultrasound showed mild hydronephrosis and/or scarring in three persons. Average glomerular filtration rate was 86% (50-131%). 11 had Bricker diversion and seven continent reservoirs. 15 out of 18 persons with urinary diversion were satisfied with this solution. In persons with urinary diversion, the average glomerular filtration rate was 78% (44-109%). Ultrasound showed hydronephrosis and/or scarring in seven out of 16. Overall, urinary tract infections last year were reported by 56%, and pyelonephritis was more common in those with urinary diversion. INTERPRETATION: Incontinence is a common problem in adults with myelomeningocele. About one third had upper urinary tract changes, but none had renal failure.

[Follow up of urinary tract problems in adults with myelomeningocele]. / Oppfølging av urinveisproblemer hos voksne med myelomeningocele.

BACKGROUND: More than 90% of persons with myelomeningocele have a neurogenic bladder disturbance with incontinence and risk of upper urinary tract deterioration. Both aspects need to be considered when planning treatment and follow-up. MATERIAL AND METHODS: The study is based on review of articles and clinical experience. RESULTS: A thorough examination of the patient's voiding methods and incontinence is necessary. Examinations for renal function, reflux and hydroureteronephrosis as well as cystometry should also be carried out. The results of such examinations, together with an assessment of the patient's motor and cognitive function, as well as motivation, will provide a basis for further treatment and follow-up. We suggest a flow-chart for treatment and follow-up of persons above 16 years of age with myelomeningocele. INTERPRETATION: Patients with myelomeningocele should have a thorough examination and an individual plan for treatment and follow-up of their urinary tract dysfunction. Depending on the pathological findings, routine follow-up should be in done intervals from six months to five years.