From disability to ability: comprehensive rehabilitation providing a holistic functional improvement in a child with neglected neural tube defect.

Neural Tube defects are one of the most common congenital disorders, presenting in a paediatric rehabilitation set-up. With its wide spectrum of clinical presentation and possible complications, the condition can significantly impact an individual's functional capacity and quality of life. The condition also affects the family of the child leaving them with a lifelong impairment to cope up with. Through this 16-year-old child, we shed light on the effects of providing rehabilitation, even at a later stage and its benefits. We also get a glimpse of difficulties in availing rehabilitation services in developing countries and the need to reach out many more neglected children like him with good functional abilities.

Diastematomielia una malformación raquimedular asociada a la escoliosis congénita: a propósito de un caso / Diastematomyelia, a spinal cord malformation associated to congenital scoliosis: a case report

La diastematomielia viene del griego diastema=intervalo y myelos=médula. La diastematomielia es una malformación raquimedular que consiste en un desdoblamiento de la médula espinal, normalmente por debajo de la 5.a vértebra dorsal y en relación con una anomalía vertebral. Es una forma rara de disrafia espinal (menos del 3% de los casos con disrafismo espinal oculto) y es más frecuente en el sexo femenino (3:1). La asociación con otras malformaciones raquimedulares está claramente documentada. Clínicamente se puede presentar con tres grupos de síndromes: alteraciones cutáneas, deformidades ortopédicas y síntomas o signos de disfunción neurológica. Presentamos el caso clínico y el estudio radiológico de una mujer de 57 años remitida a nuestro servicio de rehabilitación por presentar una mielopatía cervical con una escoliosis dorsolumbar detectada en la preadolescencia; clínicamente presentaba deformidades ortopédicas con manifestaciones neurológicas, aunque sin alteraciones cutáneas claras. Presentamos este caso ya que, a pesar de ser una entidad inusual, debe tenerse en cuenta como diagnóstico diferencial en personas que presenten una escoliosis congénita, ya que la diastematomielia se presenta en el 5 al 16% de las escoliosis congénitas (AU)

The diastematomyelia comes from the Greek diastema=interval, and myelos=marrow. The diastematomyelia is usually a malformation raquimedular that consists on an unfolding of the spinal marrow, below the 5a dorsal vertebra and in connection with a vertebral anomaly. It is a strange form of spinal disrafia (less than 3% of the cases with spinal hidden disrafismo); it is more frequent in females 3:1 the association with other malformations raquimedulares is clearly documented. Clinically, it can be presented in three groups of syndromes: Cutaneous alterations, orthopedic deformities and symptoms or signs of neurological dysfunction. We present the clinical case and radiological study, of a 57 year-old woman remitted to our rehabilitation service in order to introduce a cervical myelopathy with a scoliosis lumbar back detected in young people, clinically it presents orthopedic deformities with neurological manifestations although without cutaneous clear alterations. We present this case in spite of it is an unusual entity and should be kept in mind as a differential diagnosis in people that present a congenital scoliosis since the diastematomyelia is shown up in 5–16% of the congenital scoliosis (AU)

Use of strutter orthoses for an adolescent with myelodysplasia.

PURPOSE: To describe the functional gains made through the use of the Strutter Functional Orthosis System (SFOS) in an adolescent with myelodysplasia. SUMMARY: A 12-year-old boy with lumbar level myelodysplasia was not functional when ambulating with Lofstrand crutches. He required a wheelchair for community mobility because of complaints of fatigue and upper extremity discomfort. He was introduced to the SFOS and became a functional community ambulator, reporting greater walking endurance and decreased pain. CONCLUSIONS: This report provides some case evidence to suggest that the SFOS can improve functional mobility in a child with myelodysplasia. With the SFOS this child progressed from being nonfunctional when ambulating to being classified as a "community ambulator," resulting in physiological, functional, and psychosocial gains. RECOMMENDATIONS: We suggest future investigations to explore the reasons for greater walking ability with the SFOS.

The effects of medical treatment and rehabilitation in a patient with adult tethered cord syndrome in the late postoperative period.

BACKGROUND: The possibility of functional tethered cord syndrome (TCS) should be considered when adolescent patients present with unexplained lumbar, buttock, and leg symptoms. Symptoms progress if untreated. Success depends on early diagnosis, the complete untethering of the spinal cord, and rehabilitation. A rare case of adult TCS is reported. CASE REPORT: A 42-year-old female patient with lower back and leg pain, severe flexor reflex responses, and a walking disorder was evaluated. Gabapentin and tizanidine were given to treat the neuropathic pain and flexor reflex responses. An exercise program was applied to improve the walking disorder. Finally, the patient's complaints of pain considerably decreased, flexor reflex responses were reduced, and a more comfortable walking motion was observed. CONCLUSIONS: A rehabilitative approach is very important and a multidisciplinary follow-up and treatment procedure is required in the clinical healing process of all patients presenting with a tethered cord condition, whether surgical intervention is carried out or not.

Function of children with myelodysplasia and lower extremity amputations.

This is a retrospective study of the functional status of children who underwent a lower extremity amputation for complications of myelodysplasia. With a computerized surgical database, 12 children with myelodysplasia who underwent an amputation at the Boyd level or above at a single children's referral hospital between 1983 and 2001 were identified. Four patients could not be contacted, but the remaining 8 patients were evaluated through chart review and interview to assess the impact of the amputation on their function. With a mean follow-up time of 9 years (range, 5-15 years), all 6 of the patients with a below-knee or Boyd amputation continued to ambulate using a prosthesis. Most patients occasionally reported having ulcers on their residual limb, but these cases were easily managed and did not result in amputation revisions.The only patient in this series with an above-knee amputation and the only patient with a knee disarticulation were exclusively wheelchair ambulators and no longer owned a prosthesis. This study supports the notion that children with myelodysplasia can have amputations and successfully wear a prosthesis to maintain their ambulation.

Sports for the physically challenged child.

Participation in sports is important for the physical and emotional health of the physically challenged child. Sports can improve strength, endurance, and cardiopulmonary fitness while providing companionship, a sense of achievement, and heightened self-esteem. With interest in such participation increasing, it is necessary for the physicians, therapists, and families of children with special needs to understand the preparticipation evaluation, athletic options, specialized equipment, and sport-specific risks. Recommendations that provide guidelines for safe, effective participation in sports are currently available for common congenital and developmental disabilities such as Down syndrome, cerebral palsy, myelodysplasia, hemophilia, congenital amputations, and arthritic disorders.

Myelodysplasia in adult life: the value of an outreach nursing service.

In the state of South Australia, infants with myelodysplasia have been treated by early intervention since 1963, and the majority have survived. Many are now adults, leading active lives despite having severe disabilities. A pilot study confirmed that this population has a high incidence of preventable ill health because of recurrent urinary infections, renal damage, and pressure ulcers. Many of these complications can be prevented by an outreach nursing service aimed at providing education in self-care, counseling, advocacy, and other appropriate nursing interventions, thus allowing clients to avoid hospitalization and maintain their independence. The study also showed that many clients were unaware of important social benefits, the knowledge of which should promote their financial independence. The outreach nursing service is an essential part of an integrated long-term support program for adults with myelodysplasia and other forms of congenital spinal paralysis.

[Directions and complex rehabilitation in children with neural tube defects]. / Kierunki i zasady kompleksowej rehabilitacji dzieci z defektami cewy nerwowej.

A child with spina bifida is born with a potential disability. These children demand a long treatment and constant care of a specialist team which consists of: a pediatrician, pediatric surgeon, neurologist, nephrologist, specialist in rehabilitation and psychologist. In the treatment of the children with spina bifida, rehabilitating treatment is the basic and main one, which is started in the first days of life. The most difficult and trouble-some problem in the treatment of the children with spina bifida is the dysfunction of urinary bladder and anus sphincters which causes urine and fecal incontinence. These impairments often cause infections of the urinary tract, nephrolithiasis and in the later period, renal failure. The most vital factor influencing the effect of rehabilitation in children with spina bifida, the one which causes a real handicap, is the dysfunction of urinary bladder and anus sphincters, and not paresis or paralysis of the extremities.

[Possibilities of ambulation in children with myelodysplasia]. / Mozliwosci lokomocji u dzieci z przepuklina oponowo-rdzeniowa.

The authors discuss the possibility of ambulation of children with myelodysplasia, employing different types of orthopedic devices. According to the personal experience of 23 myelodysplastic patients, the indications and results of using reciprocal gait orthoses have been described. The paper emphasizes the significance of interdisciplinary team in the treatment of this disease.

Social consequences of long term impairments and disabilities: conceptual approach and assessment of handicap.

OBJECTIVES: To present a conceptual model of disablement adapted from the WHO model and to conduct a pilot study with a measurement tool (LIFE-H) of the concepts of life habits and handicap situations. DESIGN: Content validity and test-retest reliability study. SETTING: General community. PARTICIPANTS: A panel of 12 experts of rehabilitation for the process of content validity and 49 individuals with spinal cord disorders (adults and children) for the reliability study. OUTCOMES MEASURES: a person's life habits (activities of daily living and social roles). RESULTS: The LIFE-H questionnaire was designed to assess the handicap situations observed in daily life of individuals with disability. The experts concluded that the LIFE-H items covered most of a person's life habits (ADL and social roles) and that it could be used to determine the appearance of handicap situations. The LIFE-H total score showed a good level of reliability for the children and the adult samples (ICC = 0.73 and 0.74, respectively). Taken individually, a majority of life habit categories have shown a moderate to high reliability level (ICC > or = 0.50) while a few life habit categories such as the interpersonal relationship or nutrition showed a lower reliability level. CONCLUSION: The development of LIFE-H allows fulfillment of the need to determine the disruptions in life habits of persons with disabilities.

[Prevalence, clinical aspects and prognosis of neural tube defects in The Netherlands]. / Prevalentie, klinisch beeld en prognose van neuralebuisdefecten in Nederland.

OBJECTIVE: To determine the live birth prevalence of neural tube defects (NTD) in the Netherlands and describe the clinical picture. DESIGN: Descriptive. SETTING: TNO Prevention and Health, Leiden, the Netherlands. METHOD: Data collected through active surveillance of NTD on a monthly basis by paediatricians throughout the country. RESULTS: From October 1993 to September 1995, 203 infants with NTD were registered. Six were diagnosed with anencephaly, 10 with encephalocele and 157 with spina bifida. On 30 children no further information was available. Seventy-nine per cent of children with spina bifida had a myelomeningocele and 11% had a meningocele. Hydrocephalus was found in 75% of all registered infants and in 81% of infants with myelomeningocele. In 18% of the latter group a kyphosis was diagnosed. In 45% of 131 children prognosis of ambulation fair: they were expected to learn to walk. In 32% prognosis for motor disorder was very poor, and unsupported sitting was considered to be unlikely. At the time of registration, when most children were less than a month old, 55 (27%) had died; in infants with a myelomeningocele this was 35%. In many children treatment had not been started, probably because the prognosis was poor. Some had not been referred to a multidisciplinary team and only one of them received a hydrocephalus valve. CONCLUSION: The prevalence of spina bifida in the Netherlands is at least 100 live-born children per year among 195,000 total births. Mortality in the first month is high and for many surviving infants a severe handicap can be expected. Preventive strategies (such as folic acid supplementation) are urgently needed.

Myelodysplasia--the musculoskeletal problem: habilitation from infancy to adulthood.

The physical therapy and orthopedic management of patients with myelodysplasia from infancy to adulthood are reviewed. The overall goal for the child with myelodysplasia is functional independence. Physical therapy and orthopedic intervention enable the individual to achieve this goal. Associated problems, however, such as Arnold-Chiari malformation, hydrocephalus, and tethered spinal cord, influence functional expectations. Physical therapy management begins in the neonatal period and continues through adolescence. Treatment is modified at the various stages of development. Knowledge of current orthotic and adaptive equipment is necessary to achieve optimal locomotor function. Orthopedic management decisions are based on musculoskeletal and neurologic assessments, to which the physical therapist provides a significant contribution. Controversies exist over the orthopedic management of dislocated hips, scoliosis, and kyphosis.

Pediatric rehabilitation. 3. Disorders of the spinal cord: spinal cord injury, myelodysplasia.

This self-directed learning module provides review and references for the basic concepts of, and highlights new advances in, disorders of the spinal cord in children. It is a section of the chapter on pediatric rehabilitation for the Self-Directed Medical Knowledge Program Study Guide for practitioners and trainees in physical medicine and rehabilitation. For spinal cord injury, only data pertinent to the pediatric age group are discussed. Myelodysplasia is presented in detail to include genetic implications, early intervention, long-term management planning, psychosocial impact, and quality-of-life considerations.

[Neurosurgical treatment of developmental defects of the nervous system (ddns) in infants]. / Neurochirurgiczne leczenie wad rozwojowych uklad nerwowego (wrun) u noworodków i neimowlat.

In a survey of 151 children treated surgically in the earliest period of life the author discusses the complex pathomechanism of damage to the nervous tissues in various age groups indicating important elements in the surgical management which may prevent secondary changes impairing human development in further life periods. In the follow-up 89.4% of children the previously inhibited development was resumed, at the level determined by the preserved nervous structure.

Effects of arm ergometry training in an adolescent with myelodysplasia. A case report.

The purpose of this article is to report the effects of arm ergometry training on upper extremity strength, body composition, and oxygen uptake in a 13-year-old adolescent with myelodysplasia. The subject trained three times a week for eight weeks at 75% of maximum heart rate. The following measurements were determined before and after the training period: maximal and submaximal heart rate and oxygen uptake, percent body fat, and peak torque of the elbow and shoulder flexor and extensor muscles. The results indicated that maximal oxygen uptake and percent body fat did not change, but maximal physical work capacity increased from 274 kg . m/min to 569 kg X m/min. Heart rate and oxygen uptake decreased at each submaximal work load, and peak torque increased an average of 22.3% for the movements tested. We concluded that arm ergometry training in an adolescent with myelodysplasia can reduce the energy cost of performing submaximal arm ergometry work.