Ola H. Skjeldal

Rett variants: a suggested model for inclusion criteria.

A model for the clinical delineation of atypical cases of Rett syndrome is presented. It is based on the presence, at age > or = 10 years, of combined clusters of at least 3 of 6 primary criteria and at least 5 of 11 supportive manifestations appearing through childhood with advancing age. The model was applied to 16 mentally retarded females, aged 11-47 years (median: 23) who were considered to manifest atypical variants of the syndrome (8 formes frustes, 6 late regression, 2 congenital variants). Two of the 16 patients had an early seizure history as the initial abnormality. In parallel, the number of supportive manifestations in a series of 41 females over 10 years of age with classic Rett syndrome are given. The differentiating power was tested on 8 patients with a chromosome-verified Angelman syndrome. It is concluded that the model applied here has the capacity to identify and distinguish Rett syndrome variants of different types, to sift out other developmental disorders in routine clinical work, and to have potential as a useful research tool.

Characteristics of recurrent musculoskeletal pain in children with cerebral palsy aged 8 to 18 years.

Aim  The aim of this study was to explore the prevalence, predictors, severity, and impact of recurrent musculoskeletal pain in children and adolescents with cerebral palsy (CP).

Prosthesis rejection in acquired major upper-limb amputees: a population-based survey

Purpose: To estimate the rates of primary and secondary prosthesis rejection in acquired major upper-limb amputees (ULAs), to describe the most frequently reported reasons for rejection and to estimate the influence of background factors on the risk of rejection. Method: Cross-sectional study analysing population-based questionnaire data (n = 224). Effects were analysed by logistic regression analyses and Cox regression analyses. Results: Primary prosthesis rejection was found in 4.5% whereas 13.4% had discontinued prosthesis use. The main reasons reported for primary non-wear were a perceived lack of need and discrepancies between perceived need and the prostheses available. The main reasons reported for secondary prosthesis rejection were dissatisfaction with prosthetic comfort, function and control. Primary prosthesis rejection was more likely in ULAs amputated at high age and in ULAs with proximal amputations. Secondary prosthesis rejection was more likely in proximal ULAs and in women. Conclusions: Clinicians should be aware of the increased risk of rejection in proximal ULAs, elderly ULAs and in women. Emphasising individual needs will probably facilitate successful prosthetic fitting. Improved prosthesis quality and individualised prosthetic training may increase long-term prosthesis use. Further studies of the effect of prosthetic training and of the reasons for rejection of different prosthetic types are suggested. Implications for Rehabilitation Most acquired major upper-limb amputees (ULAs) are fitted with prostheses after the amputation. This population-based study shows that proximal ULAs, elderly ULAs and women have an increased risk of prosthesis rejection. Emphasising individual needs may facilitate successful prosthetic fitting. Improved prosthesis quality and individualised prosthetic training may increase long-term prosthesis use.

Musculoskeletal Pain and Overuse Syndromes in Adult Acquired Major Upper-Limb Amputees

OBJECTIVES (1) To compare the prevalence of self-reported musculoskeletal pain in upper-limb amputees (ULAs) in Norway with that of a control group drawn from the Norwegian general population; (2) to describe musculoskeletal pain bothersomeness in ULAs; (3) to estimate the association between prosthesis wear and self-reported musculoskeletal pain in ULAs; and (4) to describe the occurrence of musculoskeletal overuse syndromes in a sample of ULAs. DESIGN Cross-sectional study: postal questionnaires and clinical examinations. SETTING Norwegian ULA population. Clinical examinations performed at 3 clinics. PARTICIPANTS Questionnaires: population-based amputee sample (n=224; 57.4% response rate). Random control sample (n=318; 33.1% response rate). Clinical examinations: combined referred sample and convenience sample (n=70; 83.3% of those invited). Survey inclusion criteria: adult, resident in Norway and mastering Norwegian (amputees and controls), acquired major upper-limb amputation (amputees only). INTERVENTIONS Not applicable. MAIN OUTCOME MEASURES Self-reported musculoskeletal pain and pain bothersomeness. Self-reported pain in prosthesis wearers and nonwearers. Clinically assessed diagnoses of musculoskeletal overuse syndromes. RESULTS Self-reported musculoskeletal pain was more frequent in ULAs than in the control group except for lower back pain. In ULAs, 57.0% reported neck/upper back pain (odds ratio [OR]=2.56; 95% confidence interval [CI], 1.64-3.98), and 58.9% reported shoulder pain (OR=4.00; 95% CI, 2.51-6.36). The percentage difference for arm pain was 24.8% (P<.001). All pain was reported as bothersome. We found no difference in pain prevalence between prosthesis wearers and nonwearers. Musculoskeletal overuse syndromes were found in 6.1% to 24.2% of ULAs, depending on diagnosis and case-definition criteria. CONCLUSIONS Upper-limb loss increases the risk of self-reported musculoskeletal pain in the neck/upper back, shoulders, and in the remaining arm. Prosthesis wear does not prevent musculoskeletal pain. Further studies should be conducted to investigate the effects of prosthesis wear and possible preventive measures, and to ascertain our preliminary prevalence estimates of overuse syndromes.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Mitochondrial complex I deficiency is the most frequently encountered defect of the oxidative phosphorylation system. To identify the genetic cause of the complex I deficiency, we screened the gene encoding the NDUFS1 subunit. We report 3 patients with low residual complex I activity expressed in cultured fibroblasts, which displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop codon, 3 mutations cause a substitution of amino acids and another mutation a deletion of one amino acid. The fibroblasts of the patients display a decreased amount and activity of complex I. In addition, a disturbed assembly pattern was observed. These results suggest that NDUFS1 is a prime candidate to screen for disease-causing mutations in patients with a very low residual complex I activity in cultured fibroblasts.

Prosthesis use in adult acquired major upper-limb amputees: patterns of wear, prosthetic skills and the actual use of prostheses in activities of daily life.

Purpose: To describe patterns of prosthesis wear and perceived prosthetic usefulness in adult acquired upper-limb amputees (ULAs). To describe prosthetic skills in activities of daily life (ADL) and the actual use of prostheses in the performance of ADL tasks. To estimate the influence of prosthetic skills on actual prosthesis use and the influence of background factors on prosthetic skills and actual prosthesis use. Method: Cross-sectional study analysing population-based questionnaire data (n = 224) and data from interviews and clinical testing in a referred/convenience sample of prosthesis-wearing ULAs (n = 50). Effects were analysed using linear regression. Results: 80.8% wore prostheses. 90.3% reported their most worn prosthesis as useful. Prosthetic usefulness profiles varied with prosthetic type. Despite demonstrating good prosthetic skills, the amputees reported actual prosthesis use in only about half of the ADL tasks performed in everyday life. In unilateral amputees, increased actual use was associated with sufficient prosthetic training and with the use of myoelectric vs cosmetic prostheses, regardless of amputation level. Prosthetic skills did not affect actual prosthesis use. No background factors showed significant effect on prosthetic skills. Conclusions: Most major ULAs wear prostheses. Individualised prosthetic training and fitting of myoelectric rather than passive prostheses may increase actual prosthesis use in ADL. Implications for Rehabilitation Arm prostheses are important functional aids for adult acquired major upper-limb amputees (ULAs). Despite being mainly satisfied with their prostheses, reporting their prostheses as useful and showing good prosthetic skills, prosthesis-wearing major ULAs do not use their prostheses for more than about half of the activities of daily life (ADL) tasks carried out in everyday life. In unilateral ULAs, individualised and targeted prosthetic training may increase optimal, active prosthesis use in ADL. Fitting the amputee with myoelectric rather than passive prostheses may increase prosthesis use in ADL, regardless of amputation level.

Mental health, health related quality of life and recurrent musculoskeletal pain in children with cerebral palsy 8–18 years old

Purpose: To extend knowledge on mental health with children’s self-report and explore mental health and health related quality of life (HRQL) in a context of recurrent musculoskeletal pain in cerebral palsy (CP). Method: Eighty-three participants, mean age 14.2 ± 2.8 years, were assessed with clinical examination, interview and questionnaires. Gross motor function was GMFCS level I 42%, level II 42%, level III 12% and level IV–V 5%. Children self-reported mental health on SDQ (Strengths and Difficulty Questionnaire), HRQL on PedsQL (Pediatric Quality of Life), and pain on CHQ (Child Health Questionnaire). Mothers proxy-reported on the same questionnaires and reported own mental health on GHQ (General Health Questionnaire). Results: Both self-reported mental health and HRQL was better than proxy-reported. Recurrent musculoskeletal pain was associated with more mental health problems and reduced HRQL in self-reports, but not in proxy-reports. Conclusions: In CP, the importance of child-report on mental health and HRQL when possible, in addition to parent proxy-report, cannot be overstated. Close co-operation between (re)habilitation and child psychiatry is urgent. Further research on self-reported mental health and impact of mental health problems is warranted together with a focus on the impact of recurrent musculoskeletal pain on participation. Implications for Rehabilitation Children with cerebral palsy experience musculoskeletal pain that is associated with more self-reported mental health problems and lower HRQL. Because mothers tend to not recognise these associations, self-report (when possible) is essential. A bio-psycho-social perspective in both individual and family approach is important because of the associations mentioned and because parents report that their children have a high prevalence of mental health problems. Assessment of HRQL has the potential to capture both pain and mental health problems, and should be an integrated part of the systematic clinical follow-up.

Observed prevalence of autism spectrum disorders in two Norwegian counties

BACKGROUND The prevalence of autism spectrum disorders (ASD) has previously been reported to be increasing dramatically in European and non-European countries. No similar increase in prevalence rates has been documented in Norway to date. The current study reports on ASD prevalence rates in two Norwegian counties. METHODS The population comprised 31,015 children, ages six to 12. Information about special needs services was provided by the school authorities and the public health service. Multiple search strategies were applied to identify children at risk of ASD or diagnosed with ASD. Hospital registers were searched and a mapping tool was used in all local schools. RESULTS The total number of patients with ASD found in the population was 158. This gives a prevalence of 51 per 10,000 (95% CI, 0.43-0.59). CONCLUSION Compared with the previously reported prevalence of ASD in Norway, there has been almost a fourfold increase in the occurrence of childhood autism and a tenfold increase in the occurrence of all ASD groups. These findings have significant implications for designing and dimensioning appropriate intervention programmes for children with ASD and their families.

Continuous intrathecal baclofen therapy in children with cerebral palsy – when does improvement emerge?

Aim:  The aim of the study was to explore the timing of effects of intrathecal baclofen therapy in children with cerebral palsy.

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

A boy with delayed psychomotor development, attention deficit disorder, and therapy-resistant epilepsy was treated with valproate. The patient died of liver failure after 4 months of valproate treatment. Postmortem investigation of cultured fibroblasts suggested medium chain acyl-CoA dehydrogenase deficiency, an unexpected finding since the boy had not presented typical manifestations of this disease. Because medium chain acyl-CoA dehydrogenase is an important enzyme in the beta-oxidation of fatty acids, our patient probably had a genetically reduced tolerance to valproate. This drug should be omitted in the treatment of seizures in patients with possible medium chain acyl-CoA dehydrogenase deficiency.