Development and validation of a severity scoring system for Zellweger spectrum disorders.

The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-characterized cohort of ZSD individuals. We developed a severity scoring system based on the 14 organs that typically can be affected in ZSD. A standardized and validated method was used to classify additional care needs in individuals with neurodevelopmental disabilities (Capacity Profile [CAP]). Thirty ZSD patients of varying ages were scored by the severity score and the CAP. The median score was 9 (range 6-19) with a median scoring age of 16.0 years (range 2-36 years). The ZSD severity score was significantly correlated with all 5 domains of the CAP, most significantly with the sensory domain (r = 0.8971, P = <.0001). No correlation was found between age and severity score. Multiple peroxisomal biochemical parameters were significantly correlated with the severity score. The presently reported severity score for ZSD is a suitable tool to assess phenotypic severity in a ZSD patient at any age. This severity score can be used for objective phenotype descriptions, genotype-phenotype correlation studies, the identification of prognostic features in ZSD patients and for classification and stratification of patients in clinical trials.

[Surgical possibilities in spastic paralysis of arm and hand]. / Operatieve mogelijkheden bij spastisch verlamde arm en hand.

OBJECTIVE: To determine the results of surgical correction of spastic paralysis of the hand due to cerebral palsy. DESIGN: Descriptive. SETTING: Academic Medical Centre, Amsterdam, the Netherlands, and rehabilitation centre De Trappenberg. METHOD: From 1-1-1990 until 1-6-1994 twenty patients with spastic upper limb in cerebral palsy were operated in our hospital. They were all seen preoperatively by our multidisciplinary team, and selected according to the Zancolli classification. Seventeen operations were aimed at improving hand function, the other three were performed for contractures or for cosmetic/hygienic reasons. Surgery was aimed at correcting the muscular imbalance, by weakening spastic muscles via tenotomy or lengthening and by reinforcing paralysed muscles via tendon transfer or rerouting. Often stabilisation of joints by tenodesis, capsulodesis or arthrodesis was necessary as well. RESULTS: Eighteen of the twenty patients were (very) happy with the results. In two patients there was no functional gain. Only once was a postoperative complication seen: pseudarthrosis of the first carpometacarpal joint. This was corrected successfully by rearthrodesis. We found we were able to predict the functional outcome fairly accurately. CONCLUSION: With accurate patient selection, surgical intervention in patients with cerebral palsy may restore hand function adequately and predictably.