The need for additional care in patients with classical galactosaemia.

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. 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.

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.

Interrater reliability of the capacity profile in children with neurodevelopmental disabilities.

Objective: To investigate the interrater reliability of the Capacity Profile (CAP) in children with neurodevelopmental disabilities.

Design: Cross-sectional study.

Setting: Six rehabilitation centers in the Netherlands.

Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1A.

Severe fatigue and low quality of life are reported by a majority of adult patients with hereditary motor and sensory neuropathy 1A. In children with hereditary motor and sensory neuropathy 1A, the prevalence and impact of fatigue have not been studied yet. In this questionnaire survey, 55 Dutch children (response rate 77%) with genetically confirmed hereditary motor and sensory neuropathy 1A participated (mean age 15 years [standard deviation 2.

Participation outcomes for children with acquired brain injury: a narrative review.

Aim: To review the literature on participation outcomes used in children and adolescents with acquired brain injury (ABI) and to synthesize the available evidence on recovery trajectories in participation after ABI.

Method: This study searched electronic databases (Medline, Cinahl, Embase and PsychInfo) from March 2011 back to the earliest available time (1966) using the following terms with brain injury (brain tumours excluded) and children: social or community or school and outcome assessment or participation. Retrieved articles were rated for methodological quality using Oxford Centre for Evidence Based Medicine criteria (CEBM).

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.

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

Background: Spinal muscular atrophy (SMA) is caused by the homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene produces small amounts of full-length mRNA and functional SMN protein, due to a point mutation in a critical splicing site. Increasing SMN protein production by histone deacetylase inhibiting drugs such as valproic acid (VPA) is an experimental treatment strategy for SMA.

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.

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.

How well do care providers know the children with developmental disabilities they care for?

Aim: To assess the knowledge from memory of caregivers about the most significant impairments contributing to additional care needs in children with developmental disabilities in therapeutic toddler groups.

Methods: Children's needs for additional care due to impairments of physical health, motor, sensory, mental and voice and speech functions were separately classified using the capacity profile (CAP). Twenty-three therapists and teachers of toddler groups in two regional centres for paediatric rehabilitation assessed the CAP individually, unprepared and without consulting their notes or the clinical record.

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 reproducibility and validity of the Canadian Occupational Performance Measure in parents of children with disabilities.

Objective: To study the reproducibility (inter-rater agreement), the construct and criterion validity of the Canadian Occupational Performance Measure (COPM) in the parents of children with disabilities.

Design: The COPM was administered twice by two different occupational therapists. The inter-rater agreement of the content of the prioritized problems was explored.

Predicting additional care in young children with neurodevelopmental disability: a systematic literature review.

Children with developmental disabilities often show a variety of associated impairments that lead to a lifelong need for additional care. Careful assessment of these impairments is required not only for diagnostic purposes but also to inform the parents about the expected additional care needs in the future. We present a systematic review of the literature to identify instruments that classify the type and amount of this care for the individual child.

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.

[Surgical possibilities in spastic paralysis of arm and 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.