P. De Cock

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction. The serum disialotransferrin, studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3)[Man(alpha 1-->6)]Man(beta 1-->4)GlcNAc (beta 1-->4)GlcNAc-Asn per mole of transferrin. A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II (EC 2.4.1.143) was demonstrated in fibroblasts.

A randomized study of combined botulinum toxin type A and casting in the ambulant child with cerebral palsy using objective outcome measures.

It is recognized that objective gait analysis is of great value in planning a multilevel botulinum toxin type A (BTX‐A) treatment. After BTX‐A treatment, objective outcome measures can provide new and interesting information for each individual child with cerebral palsy (CP). Moreover, by studying group results, we may evaluate our treatment hypotheses. The present prospective study attempts to document the effect of integrated multilevel BTX‐A treatment on objective gait parameters and to define the optimal strategy for the combined treatment of BTX‐A with casting in children with cerebral palsy. Objective three‐dimensional gait analysis (3DGA) data were collected pre‐ and 2 months post‐treatment, in two randomized patient groups: a first group of 17 children treated with lower leg casting prior to BTX‐A injections, and a second group of 17 patients who received casting immediately after injections. The present study demonstrates that improved gait can be achieved after a multilevel BTX‐A treatment, combined with casting, using a set of 90 gait parameters. The most pronounced improvement was seen at the ankle joint. The results in the knee, hip and pelvis imply that multilevel treatment of the child with CP should start at an early age, in order to prevent development of muscle contractures. Slightly more pronounced benefits, mainly in the proximal joints, were seen for the children who were casted after injections as compared to the children who were casted before injections.

Upper limb motor and sensory impairments in children with hemiplegic cerebral palsy. Can they be measured reliably

Purpose. To establish interrater and test–retest reliability of a clinical assessment of motor and sensory upper limb impairments in children with hemiplegic cerebral palsy aged 5–15 years. Method. The assessments included passive range of motion (PROM), Modified Ashworth Scale (MAS), manual muscle testing (MMT), grip strength, the House thumb and Zancolli classification and sensory function. Interrater reliability was investigated in 30 children, test–retest reliability in 23 children. Results. For PROM, interrater reliability varied from moderate to moderately high (correlation coefficients 0.48–0.73) and test–retest reliability was very high (>0.81). For the MAS and MMT, total score and subscores for shoulder, elbow, and wrist showed a moderately high to very high interrater reliability (0.60–0.91) and coefficients of >0.78 for test–retest reliability. The reliability for the individual muscles varied from moderate to high. The Jamar dynamometer was found to be highly reliable. The House thumb classification showed a substantial reliability and the Zancolli classification an almost perfect reliability. All sensory modalities had a good agreement. Conclusions. For all motor and sensory assessments, interrater and test–retest reliability was moderate to very high. Test–retest reliability was clearly higher than interrater reliability. To improve interrater reliability, it was recommended to strictly standardize the test procedure, refine the scoring criteria and provide intensive rater trainings.

Comparison of the Melbourne Assessment of Unilateral Upper Limb Function and the Quality of Upper Extremity Skills Test in hemiplegic CP

This study investigated interrater reliability and measurement error of the Melbourne Assessment of Unilateral Upper Limb Function (Melbourne Assessment) and the Quality of Upper Extremity Skills Test (QUEST), and assessed the relationship between both scales in 21 children (15 females, six males; mean age 6y 4mo [SD 1y 3mo], range 5–8y) with hemiplegic CP. Two raters scored the videotapes of the assessments independently in a randomized order. According to the House Classification, three participants were classified as level 1, one participant as level 3, eight as level 4, three as level 5, one participant as level 6, and five as level 7. The Melbourne Assessment and the QUEST showed high interrater reliability (intraclass correlation 0.97 for Melbourne Assessment; 0.96 for QUEST total score; 0.96 for QUEST hemiplegic side). The standard error of measurement and the smallest detectable difference was 3.2% and 8.9% for the Melbourne Assessment and 5.0% and 13.8% for the QUEST score on the hemiplegic side. Correlation analysis indicated that different dimensions of upper limb function are addressed in both scales.

A systematic review of arm activity measures for children with hemiplegic cerebral palsy

Objective: To identify psychometrically sound and clinically feasible assessments of arm activities in children with hemiplegic cerebral palsy for implementation in research and clinical practice. Data sources: PubMed, CINAHL, Cochrane Library, Web of Science and reference lists of relevant articles were searched. Review methods: A systematic search was performed based on the following inclusion criteria: (1) evaluative tools at the activity level according to the International Classification of Functioning, Disability and Health; (2) previously used in studies including children with hemiplegic cerebral palsy aged 2-18 years; (3) at least one aspect of reliability and validity in children with cerebral palsy should be established. Descriptive information, psychometric properties and clinical utility were reviewed. Results: Eighteen assessments were identified of which 11 met the inclusion criteria: eight functional tests and three questionnaires. Five functional tests were condition-specific, three were generic. All functional tests measure different aspects of activity, including unimanual capacity and performance during bimanual tasks. The questionnaires obtain information about the child’s abilities at home or school. The reliability and validity have been established, though further use in clinical trials is necessary to determine the responsiveness. Conclusions: To obtain a complete view of what the child can do and what the child actually does, we advise a capacity-based test (Melbourne Assessment of Unilateral Upper Limb Function), a performance-based test (Assisting Hand Assessment) and a questionnaire (Abilhand-Kids). This will allow outcome differentiation and treatment guidance for the arm in children with cerebral palsy.

Feeding behaviour in preterm neonates

In 100 bottle-fed preterm infants feeding efficiency was studied by quantifying the volume of milk intake per minute and the number of teat insertions per 10 ml of milk intake. These variables were related to gestational age and to number of weeks of feeding experience. Feeding efficiency was greater in infants above 34 weeks gestational age than in those below this age. There was a significant correlation between feeding efficiency and the duration of feeding experience at most gestational ages between 32 and 37 weeks. A characteristic adducted and flexed arm posture was observed during feeding: it changed along with feeding experience. A neonatal feeding score was devised that allowed the quantification of the early oral feeding behavior. The feeding score correlated well with some aspects of perinatal assessment, with some aspects of the neonatal neurological evaluation and with developmental assessment at 7 months of age. These findings are a stimulus to continue our study into the relationships between feeding behaviour and other aspects of early development, especially of neurological development.

Single event multilevel botulinum toxin type A treatment and surgery: similarities and differences

The present study attempts to provide objective evidence of two treatment options for children with cerebral palsy (CP): multilevel botulinum toxin type A (BTX‐A) injections and multilevel surgery. The purpose of the study was to clarify the differences and the similarities, and common treatment principles of both treatment strategies. Objective three dimensional gait analysis data were studied retrospectively in two patient groups pre‐ and post‐treatment (randomly selected from a group of children that were treated between 1998 and 1999). In the first group, 29 children with CP were managed with BTX‐A injections according to an integrated multilevel approach ( Molenaers et al., 1999a ). A second group of 23 children with CP were managed by a more traditional single event multilevel surgery, also according to an integrated approach. Our aim was to evaluate the differences as well as the similarities between both patient groups, using a set of 56 parameters selected from three‐dimensional gait analysis. The unifying concept between management with BTX‐A injections and orthopaedic surgery was the adoption of a multilevel approach at one session. The groups demonstrated considerable differences with respect to age, pretreatment condition and amount and level of improvement after treatment. The children who received BTX‐A were typically younger, and showed primary gait problems in the distal joints, whereas the children who underwent surgery demonstrated a higher frequency of gait deviations in the transverse plane and had more complications. Although the benefit of both treatments was confirmed by the present study, a difference in the amount and level of improvement was also demonstrated. In conclusion, these treatment modalities should be regarded as complementary rather than mutually exclusive treatments, with both calling for an integrated approach.

Rating scales for dystonia in cerebral palsy: reliability and validity

Aim  This study investigated the reliability and validity of the Barry–Albright Dystonia Scale (BADS), the Burke–Fahn–Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP).

Carbohydrate-deficient glycoprotein syndrome type II

The carbohydrate-deficient glycoprotein syndromes (CDGS) are a group of autosomal recessive multisystemic diseases characterized by defective glycosylation of N-glycans. This review describes recent findings on two patients with CDGS type II. In contrast to CDGS type I, the type II patients show a more severe psychomotor retardation, no peripheral neuropathy and a normal cerebellum. The CDGS type II serum transferrin isoelectric focusing pattern shows a large amount (95%) of disialotransferrin in which each of the two glycosylation sites is occupied by a truncated monosialo-monoantennary N-glycan. Fine structure analysis of this glycan suggested a defect in the Golgi enzyme UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II (GnT II; EC 2.4.1.143) which catalyzes an essential step in the biosynthetic pathway leading from hybrid to complex N-glycans. GnT II activity is reduced by over 98% in fibroblast and mononuclear cell extracts from the CDGS type II patients. Direct sequencing of the GnT II coding region from the two patients identified two point mutations in the catalytic domain of GnT II, S290F (TCC to TTC) and H262R (CAC to CGC). Either of these mutations inactivates the enzyme and probably also causes reduced expression. The CDG syndromes and other congenital defects in glycan synthesis as well as studies of null mutations in the mouse provide strong evidence that the glycan moieties of glycoproteins play essential roles in the normal development and physiology of mammals and probably of all multicellular organisms.

Neuroradiological findings in Jadassohn nevus phakomatosis: a report of four cases

Four patients with Jadassohn nevus phakomatosis (linear nevus sebaceus syndrome, Schimmelpenning-Feuerstein syndrome) are described. Neuroradiological findings consisted of skull asymmetry shown by X-rays and hemimegalencephaly with ventricular system asymmetry on CT. Three of the patients showed, in addition, a widened insula. In two patients areas of increased density suggesting calcium deposits were seen. Skull asymmetry was progressive during infancy in two of the patients. It is presumed that these findings are secondary to the progression of the underlying central nervous system disorder.