Nordic children with myelomeningocele: the utilization of and satisfaction with health care and medical services.

A study was conducted on utilization of and satisfaction with the health care and medical services among 527 Scandinavian children (aged 4-18) with myelomeningocele (MMC). Data were collected from two sources: a questionnaire distributed to parents in 1984, and patients' medical records. Comparisons were made with a control group comprised of 7,792 children. Over a period of one year, 52% of the MMC group and 6% of the controls were hospitalized. Over 3 months, children with MMC had more contact with specialist care services than had the controls, while contact with primary health care was the same for both groups. Continuity of care and satisfaction with time spent with the physician were both greater among children with MMC than in the control group. Dissatisfaction with medical services was expressed by approximately 10% of the parents of both categories. Such dissatisfaction was found significantly more frequently among Danish parents and well educated mothers. Dissatisfaction with care was not related to either the child's age or the severity of its disability. Danish children with MMC received treatment relatively more frequently from primary care physicians than from specialists. In Sweden, where satisfaction was the greatest, families with children with MMC were supported by local habilitation teams.

Children with myelomeningocele: the impact of disability on family dynamics and social conditions. A Nordic study.

Family dynamics and social conditions were studied of 527 children with myelomeningocele aged four to 18 years from Denmark, Finland, Norway and Sweden; the control group was a representative sample of 7792 children of the same age-range and from the same countries. Information was obtained from postal questionnaires and from patients' charts. Overall, there were more similarities than differences between index and control families, the major difference occurring in measures related to the mothers' situation. Variations within groups of index families were in many respects more important than differences between index and control families. In spite of the different welfare systems developed to support families with disabled children, this study clearly showed that the responsibility for the care of the disabled child still lies primarily with the mother. Increased efforts must be made to meet the needs of these mothers.

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and skeletal defects. We report a patient with the characteristic features of Rothmund-Thomson syndrome who also had lymphocyte chromosome abnormalities. She has a small flat face with short palpebral fissures and micrognathia together with severe skeletal abnormalities of the upper extremities with absence of both radii, short dysmorphic ulnae, a rudimentary right thumb, and aplasia of the left thumb. She also has anal atresia with a rectovaginal fistula. From the age of 3 months she developed poikiloderma skin changes on the face and extensor surfaces of the extremities. Mental development seems to be normal. Lymphocyte chromosomes in the neonatal period showed an unidentified marker chromosome in eight of a total of 32 cells. A repeat analysis at the age of 10 months showed three abnormal cells out of 100 analysed: 47,XX,-7,+i(7q),+7p, 46,XX,t(3;18)(p14.2;q22), and 49,XX,+del(3)(p11.2),+mar,+mar. A skin biopsy from an affected area showed poor growth and five of 48 cells analysed had structural abnormalities. The father had one of 48 cells with an additional marker chromosome and two cells with different 7;14 translocations. The abnormal chromosome complements in lymphocytes indicate that there may be in vivo chromosome instability in Rothmund-Thomson syndrome.

Nordic children with myelomeningocele. Parents' assessments of the handicap and physicians' classifications of the disabilities.

The differences between parents' assessments of their child's handicap and professionals' assessment of disabilities were studied in 486 Nordic children with myelomeningocele aged 4-18 years. Although disability and handicap are conceptually different, agreement between the parents' assessments of the handicap and the degree of disability according to Lorber's classification was found in 51% of cases. The parents' assessments showed close agreement with overall disability according to Lagergren's method in 45% of cases. The factors most strongly associated with parental assessment of the handicap were the child's motor disability, intellectual functioning, faecal and urinary incontinence and the parents' inclination to feel inadequate with respect to the child's needs. Data from professional assessment of disabilities alone are of limited value in understanding the impact of disabilities on the daily life of a child.

Bowel and bladder control of children with myelomeningocele: a Nordic study.

The urinary and bowel control was studied of 527 children with myelomeningocele aged between four and 18 years. Information was obtained from medical records and by parent questionnaire. 44 had normal urinary control, 50 had a urinary diversion and the remaining 433 had neuropathic bladder without urinary diversion, of whom 31 per cent expressed their bladder manually and 40 per cent used clean intermittent catheterisation (CIC). 60 per cent needed assistance emptying their bladder. Children using CIC were more continent and needed less help, but were more often treated with antibiotics. Of the 527 children, 412 had disturbed bowel control. 212 evacuated their bowels manually, of whom 90 per cent needed assistance. Parents judged urinary incontinence to be very stressful for 37 per cent of the children and faecal incontinence for 33 per cent. The authors conclude that social urinary continence should be defined as the ability to keep dry for three hours or more.

[Prosopagnosia. A rare disorder of visual perception]. / Prosopagnosi. En sjelden visuell persepsjonssvikt.

Prosopagnosia is a rare neurological sign, characterized by disturbance of recognition of faces. It is important to remember that prosopagnosia can appear as a result of a brain injury, and as such may be a major disability to the patient. We report a case of a nine year old boy with prosopagnosia due to brain injury at the age of 18 months. The main injury was localized to the boy's left hemisphere, but his right hemisphere was probably also affected. Most post mortem examinations of patients suffering from prosopagnosia show bilateral or right-sided parietal, temporal and occipetal pathological changes.

Disability in children with myelomeningocele. A Nordic study.

This study was carried out to evaluate the medical impairments and disability among 527 children with myelomeningocele living in four Nordic countries. The information was extracted form questionnaires and data based on case records. The level of intellectual functioning was fairly high with 76% within normal range (IQ greater than 90). Shunt operations were performed in 68% of the children and 1/3 had had four or more shunt revisions. Twenty-three per cent walked without support. Bladder incontinence was found in 60% of the children whereas 4% were entirely continent. Intermittent catheterisation was used in 36% with higher frequency among girls (48%) than boys (24%). We found a higher incidence of bacteriuria among those who used catheterisation than among those who used manual compression. Bowel control was experienced by 112 (21%) of the children. The overall disability is classified according to Lorbber's 5-graded handicap scale and Lagergren's 3-graded scale. According to Lagergren's scale, 70% suffered form severe overall disability.