The need for additional care in patients with classical galactosaemia

Purpose: Classical galactosaemia is an inborn error of galactose metabolism which may lead to impairments in body functions and accordingly, need for additional care. The primary aim of this study was to establish the type and intensity of this additional care. Materials and methods: Patients with classical galactosaemia aged >/=2 years were evaluated with the Capacity Profile, a standardised method to classify additional care needs according to type and intensity. Based on a semi-structured interview, current impairments in five domains of body functions were determined. The intensity of additional care was assessed (from 0, usual care, to 5, total dependence). Results: Forty-four patients with classical galactosaemia, 18 males and 26 females (median age 15 years, range 2-49 years), were included. There was a wide spectrum of impairments in mental functions. Motor function impairments were present in four patients, and mild speech impairments in eight patients. Additional care for sensory functions was uncommon. All patients needed a diet, which care is scored in the physical health domain. Conclusions: Apart from the diet all patients need, classical galactosaemia leads to the need for additional care mainly in the domains of mental functions and speech and voice functions. Implications for rehabilitation The Capacity Profile is a useful tool to demonstrate additional care needs in classical galactosaemia. In classical galactosaemia additional care is mostly indicated by mental impairments and speech and voice functions. One-fifth of patients have impairment of speech and voice functions at time of the study, and half of all patients had received speech therapy in childhood. Over 70% of patients need additional care/help due to impairment of mental functions, ranging from coaching due to social vulnerability to full day care

Interrater reliability of the capacity profile in children with neurodevelopmental disabilities

To investigate the interrater reliability of the Capacity Profile (CAP) in children with neurodevelopmental disabilities. Cross-sectional study. Six rehabilitation centers in the Netherlands. Children (N=70) with permanent, nonprogressive neurodevelopmental disabilities. Not applicable. The CAP is a method to classify additional care needs of children with nonprogressive neurodevelopmental disabilities in 5 domains of body functions: physical health, motor functions, sensory functions, mental functions, and voice/speech functions. The CAP was scored independently by 2 trained physiatrists during an outpatient visit. Interrater reliability was evaluated using an intraclass correlation coefficient (ICC). Interrater reliability of the CAP is as follows: physical functions, ICC=.74; motor functions, ICC=.85; sensory functions, ICC=.61; mental functions, ICC=.85; and voice/speech functions, ICC=.79. These findings support the interrater reliability of the CAP, when scored during a visit to the rehabilitation cente

Immediate effect of a wrist and thumb brace on bimanual activities in children with hemiplegic cerebral palsy

AIM The aim of this study was to determine the immediate effect of wearing a wrist and thumb brace on the performance of bimanual activities in children with spastic hemiplegic cerebral palsy. METHOD In a pre- and post-test cohort study of 25 children (age range 4-11y; mean age 8y 4mo [SD 2y 2mo]; 16 males, 9 females) with spastic hemiplegic cerebral palsy with a Zancolli classification hand score of I, IIA, or IIB (mild and moderate hand dysfunction; children with a Zancolli classification of III - severe hand dysfunction - were excluded from this study), performance of bimanual activities was evaluated with the Assisting Hand Assessment (AHA) on three occasions: one assessment with a static wrist and thumb brace placed on the affected hand and two other assessments without a brace. The differences between AHA scores obtained at the three assessments were evaluated using the repeated measures analysis of variance. RESULTS Performance of bimanual activities while wearing the brace improved significantly compared to performance without the brace (p <0.001). With the brace, the mean AHA score increased by 3.2 (95% confidence interval 2.1-4.3) from 59.1 to 62.3. The scores of the two assessments without the brace did not differ significantly. INTERPRETATION In children with spastic hemiplegic cerebral palsy, bracing of the wrist and thumb immediately improves spontaneous use of the affected upper limb in bimanual activities, possibly because bracing permits a more functional hand positio

The effect of botulinum toxin type A treatment of the lower extremity on the level of functional abilities in children with cerebral palsy: evaluation with goal attainment scaling

OBJECTIVE: To measure the effect of botulinum toxin type A (BTX-A) treatment in children with cerebral palsy with regard to individual goals concerning functional abilities, using goal attainment scaling. DESIGN: A single-blind randomized multiple baseline/treatment phase design across subjects. SETTING: The paediatric department of a rehabilitation centre. SUBJECTS: Eleven children with cerebral palsy participated. INTERVENTION: BTX-A treatment of the lower extremity. MAIN MEASURES: A six-point goal attainment scaling of three individual treatment goals at the level of functional abilities. Standardized video-tapes of each goal were recorded weekly for a period of 14 weeks. Rating on the predetermined goal attainment scaling was blinded. RESULTS: Nine of the 11 subjects showed significant improvement in 18 out of 33 goals. Seven subjects showed clinically relevant improvement (at least 2 points on the goal attainment scaling) in 11 goals. Testing the difference between all medians of baseline measurements (after correction for improvement during baseline) and the medians of the treatment phase measurements for all goal attainment scaling scores (n = 33) resulted in significant improvement (p <0.001). Tested at subject level (medians of the three goal attainment scaling scores per assessment, n = 11), a significant improvement was also found (p = 0.005). The change in goal attainment scaling score was related to the moment of treatment with BTX-A. CONCLUSION: Clinically relevant improvement in individual rehabilitation goals at ability level, achieved with the treatment of BTX-A in children with cerebral palsy, were demonstrated using the goal attainment scaling metho

The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities

The aim of this study was to determine the interrater reliability and stability over time of the Capacity Profile (CAP). The CAP is a standardized method for classifying additional care needs indicated by current impairments in five domains of body functions: physical health, neuromusculoskeletal and movement-related, sensory, mental, and voice and speech, in children from 3 to 18 years of age. The intensity of care in each domain is defined from 0 (no need for additional care) to 5 (needs help with every activity). The intensity of additional care in each of the five separate domains indicates the CAP for the individual child. We developed the CAP to inform the parents and other caregivers of children with non-progressive, permanent neurodevelopmental disabilities, such as cerebral palsy and myelomeningocele, about the consequences of these conditions. To determine interrater agreement and stability over time, the CAPs of 67 children (39 males, 28 females) with a neurodevelopmental disability (mean age 18y [SD 1.2y]; range 14-22y) were assessed based on a semi-structured interview. In addition, the CAPs of the same individuals at the age of 3 years were determined based on a chart review. Interrater agreement of the CAP at the age of 3 was good to very good (weighted kappa 0.64-0.92). Agreement between the CAP at the age of 18 and the CAP at the age of 3 (providing evidence for stability over time) was also good (weighted kappa 0.68-0.77), except for the domain 'physical health functions', about which agreement was relatively poor (0.47). We conclude that the CAP is a reliable instrument for classifying the additional needs of a child with a non-progressive, permanent neurodevelopmental disability. The preliminary evidence for the stability over time of such needs according to the CAP should be validated in a prospective stud

Construct validity of the Capacity Profile in preschool children with cerebral palsy

The Capacity Profile (CAP) classifies additional care needs, subdivided into five domains of body functions (physical health, motor, sensory, mental, and voice/speech) of children with stable conditions. Construct validity of the CAP was established in 72 children (56 males, 16 females) with cerebral palsy (CP); median age 2 years 7 months, range 2 years 6 months to 3 years; 34 unilateral and 37 bilateral spastic-type CP, one dyskinetic-type CP. Gross Motor Function Classification System (GMFCS) classification was 24 in level I, eight in level II, 18 in level III, 14 in level IV, and eight in level V. All CAP domains were significantly associated (p <0.001) with the Functional Skills (rho=-0.42 to -0.85) and Caregiver Assistance scales (rho=-0.42 to -0.82) of the Dutch Paediatric Evaluation of Disability Inventory. The CAP-motor domain and GMFCS were strongly correlated (rho=0.91, p <0.001). Stepwise regression analysis demonstrated that the CAP domains contributed 74% tomobility (CAP-motor 66%, mental 6%, voice 2%); 75% to self-care (CAP-voice 61%, mental 12%, physical 2%); and 70% to social functionality (CAP-mental 68%, voice 2%). CAP demonstrated good construct validity in young children with CP. The independent contribution of CAP domains to daily function underscores the importance of comprehensive assessment with regard to all domains of body functions in heterogeneous conditions like CP