Clonazepam repurposing in patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development.

Background: Clinical trials for rare disorders have unique challenges due to low prevalence, patient phenotype variability and high expectations. These challenges are highlighted by our study on clonazepam in patients, a common cause of intellectual disability. Previous studies on Arid1b-haploinsufficient mice showed positive effects of clonazepam on various cognitive aspects.

Health-care use and information needs of children with neonatal brachial plexus palsy: A cross-sectional survey among 465 Dutch patients.

To investigate health-care use (HCU) and information needs of children aged 0-18 years with neonatal brachial plexus palsy (NBPP), a cross-sectional study was performed. Patients and/or parents seen in our NBPP clinic were invited to complete a survey comprising questions on HCU due to NBPP and current information needs. Outcomes were described for three age-groups (0-1/2-9/10-18 years), based on follow-up status (early/late/no-discharge).

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS.

Hand-Use-at-Home Questionnaire: validity and reliability in children with neonatal brachial plexus palsy or unilateral cerebral palsy.

Objective: To investigate construct validity and test-retest reliability of the parent-rated Hand-Use-at-Home questionnaire (HUH) in children with neonatal brachial plexus palsy or unilateral cerebral palsy.

Design And Subjects: For this cross-sectional study, children with neonatal brachial plexus palsy or unilateral cerebral palsy, aged 3-10 years, were eligible.

Main Measures: The HUH, Pediatric Outcome Data Collection Instrument Upper Extremity Scale (neonatal brachial plexus palsy only), and Children's Hand-Use Experience Questionnaire (unilateral cerebral palsy only) were completed.

Participation restrictions among adolescents and adults with neonatal brachial plexus palsy: the patient perspective.

Purpose: To examine the impact of neonatal brachial plexus palsy (NBPP) on societal participation of adolescents and adults.

Methods: This cross-sectional study was conducted among patients with NBPP, aged ≥16 years, who had visited our NBPP clinic. Patients completed questions on the influence of NBPP on their choices regarding education/work and their work-performance, the Impact on Participation/Autonomy questionnaire and the Utrecht Scale for Evaluation of Rehabilitation-Participation (USER-P).

Neonatal Brachial Plexus Palsy in Children Aged 0 to 2.5 Years; Parent-Perceived Family Impact, Quality of Life, and Upper Extremity Functioning.

Background: To investigate whether parents perceive impact of neonatal brachial plexus palsy on family and quality of life and upper extremity functioning in children less than 2.5 years.

Methods: This cross-sectional study used the PedsQL Family Impact Module (36 items/one total/four scales/scores 0 to 100), TNO-AZL (Dutch Organisation of Applied Natural Science and Academic Hospital Leiden) Preschool Children Quality of Life (43 items/12 scales/scores 0 to 100) and 21 upper extremity functioning questions.

Responsiveness of Goal Attainment Scaling in comparison to two standardized measures in outcome evaluation of children with cerebral palsy.

Objectives: To assess the responsiveness of Goal Attainment Scaling compared with the Pediatric Evaluation of Disability Inventory (PEDI) and the 66-item Gross Motor Function Measure (GMFM-66) in multidisciplinary rehabilitation practice.

Design: Observational study. Pretest-posttest design.

Interrater reliability of goal attainment scaling in rehabilitation of children with cerebral palsy.

Objectives: To determine the interrater reliability of Goal Attainment Scaling (GAS) in the routine practice of interdisciplinary rehabilitation of children with cerebral palsy, and to examine the difference in the interrater reliability of the scores between GAS scales constructed by the children's own therapists and the scales constructed by independent therapists.

Design: Individually tailored GAS scales, based on predetermined criteria, were constructed at the start of a 6-month rehabilitation period. The outcome was rated independently by 2 therapists at the end of the treatment period.

Goal attainment scaling in paediatric rehabilitation: a critical review of the literature.

The aim of the study was to review the psychometric properties and use of goal attainment scaling (GAS) in paediatric rehabilitation research. We performed a critical literature review searching: (1) all studies whose main focus was to assess the psychometric properties of GAS in paediatric rehabilitation; and (2) all effect studies in paediatric rehabilitation that used GAS as one of the outcome measures. Three articles in the first group and six in the second group met the inclusion criteria.

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.