Construct validity of the Capacity Profile in adolescents with cerebral palsy

Objective: To establish construct validity of the Capacity Profile, a method to comprehensively classify additional care needs in five domains of body functions (physical health, motor, sensory, mental, voice and speech functions), in adolescents with non-progressive, permanent conditions such as cerebral palsy. Design: Cross-sectional study. Subjects: Ninety-four adolescents with cerebral palsy: 60 boys, 34 girls, median age 14.3, range 12-16 years, unilateral (n = 37), bilateral (n = 57), spastic (n = 76), ataxic (n = 4), dyskinetic (n = 5), mixed (dyskinetic and spastic, n =9), Gross Motor Function Classification System: level I (n = 50), level II (n = 6), level III (n = 10), level IV (n = 8), level V (n = 20). Methods: Associations were calculated between Capacity Profile domains and Vineland Adaptive Behavior Scales (communication, daily activities, social and motor skills) and Gross Motor Function Classification System using Spearman's rho. Furthermore, we explored the independent contribution of the Capacity Profile domains to activities and participation measured with the Vineland Adaptive Behavior Scales. Results: All Capacity Profile domains were significantly associated with all domains of the Vineland Adaptive Behavior Scales and the Gross Motor Function Classification System (P <0.05). Multiple regression analysis showed that the Capacity Profile contributed 87% to variance in communication (Capacity Profile-voice 78%, mental 8% and physical 1%), 85% to daily activities (Capacity Profile-mental 75%, motor 8% and voice 2%), 60% to social skills (Capacity Profile-voice 56% and mental 4%), and 91% to motor skills (Capacity Profile-motor 87%, mental 3% and sensory 1%). Conclusion: These findings support the construct validity of the Capacity Profile in adolescents with cerebral palsy. Construct validity in other medical conditions should be further investigate

Structural equation analysis of a hypothesised symptom model in the autism spectrum

Background: Several studies showed a different symptom structure underlying the spectrum of autistic-like disorders from the behaviour triad as mentioned in the DSM-IV. In the present study, a hypothesised symptom model for autism was constructed, based on earlier explorative findings, and was put to a confirmatory test. Method: Items from the Autism Diagnostic Interview-Revised (ADI-R) were used to examine the goodness of fit of the DSM-IV model, the hypothesised symptom model, and two additional models for autism. All models were tested in a group of 255 verbal and nonverbal individuals with minor to severe autistic symptomatology. Results: The DSM-IV model encountered estimation problems. Conversely, the hypothesised symptom model had no such problems and proved to have a better fit to the sample data than the two additional models for autism. However, some of the observed variables were weak indicators of the three latent factors in the model. Conclusions: The hypothesised symptom model appeared to be a plausible model in a group of individuals with a broad range of autistic behaviours and levels of functioning. Nevertheless, the stability of the model needs further examination in a larger group of individuals with disorders in the autism spectrum, and with varying degrees of intellectual functioning.

Early umbilical cord blood-derived stem cell transplantation does not prevent neurological deterioration in mucopolysaccharidosis type III

Mucopolysaccharidosis type III (MPS III), or Sanfilippo disease, is a neurodegenerative lysosomal storage disease (LSD) caused by defective lysosomal degradation of heparan sulfate (HS). No effective disease-modifying therapy is yet available. In contrast to some other neuronopathic LSDs, bone marrow-derived hematopoietic stem cell transplantation (HSCT) fails to prevent neurological deterioration in MPS III patients. We report on the 5-year outcome of early transplantation, i.e., before onset of clinical neurological disease, in combination with the use of umbilical cord blood-derived hematopoietic stem cells (UCBT), in two MPS III patients. Both patients had a normal developmental quotient at the time of UCBT. One patient had a combination of mutations predicting a classical severe phenotype (MPS IIIA), and one patient (MPS IIIB) had mutations predicting a very attenuated phenotype. Transplantation was uncomplicated with full engraftment of donor cells in both. Both patients showed progressive neurological deterioration with regression of cognitive skills and behavioral disturbances during 5 years after successful UCBT, comparable to the natural history of patients with the same combination of mutations. The concentration of HS in CSF in the patient with the attenuated phenotype of MPS IIIB 2 years after UCBT was very high and in the range of untreated MPS III patients. We conclude that the course of cognitive development, behavioral problems, and absence of biochemical correction in CSF demonstrate the absence of relevant effect of UCBT in MPS III patients, even when performed before clinical onset of CNS disease