Extending the assessment of psychosocial problems with routine screening on patient-reported outcomes, using validated questionnaires, could be of additional value in tailoring care to the needs of the individual child and parents.

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WHAT'S KNOWN ON THIS SUBJECT: Infants with Prader-Willi syndrome suffer from hypotonia, muscle weakness, and motor developmental delay and have increased fat mass combined with decreased muscle mass. Growth hormone improves body composition and motor development.WHAT THIS STUDY ADDS: Ultrasound scans confirmed decreased muscle thickness in infants with Prader-Willi syndrome, which improved as result of growth hormone treatment. Muscle thickness was correlated to muscle strength and motor performance. Catch-up growth in muscle thickness was related to muscle use independent of growth hormone. abstract OBJECTIVE: To investigate the effect of physical training combined with growth hormone (GH) on muscle thickness and its relationship with muscle strength and motor development in infants with Prader-Willi syndrome (PWS). METHODS:In a randomized controlled trial, 22 infants with PWS (12.9 6 7.1 months) were followed over 2 years to compare a treatment group (n = 10) with a waiting-list control group (n = 12). Muscle thickness of 4 muscle groups was measured by using ultrasound. Muscle strength was evaluated by using the Infant Muscle Strength meter. Motor performance was measured with the Gross Motor Function Measurement. Analyses of variance were used to evaluate between-group effects of GH on muscle thickness at 6 months and to compare pre-and posttreatment (after 12 months of GH) values. Multilevel analyses were used to evaluate effects of GH on muscle thickness over time, and multilevel bivariate analyses were used to test relationships between muscle thickness, muscle strength, and motor performance. RESULTS:A significant positive effect of GH on muscle thickness (P , .05) was found. Positive relationships were found between muscle thickness and muscle strength (r = 0.61, P , .001), muscle thickness and motor performance (r = 0.81, P , .001), and muscle strength and motor performance (r = 0.76, P , .001).CONCLUSIONS: GH increased muscle thickness, which was related to muscle strength and motor development in infants with PWS. Catch-up growth was faster in muscles that are most frequently used in early development. Because this effect was independent of GH, it suggests a training effect.

Aim: To assess cardiac anatomy and myocardial systolic function in children with Prader-Willi syndrome (PWS).Methods: Physical examination, electrocardiographic (ECG) recordings and transthoracic echocardiograms including two-dimensional speckle tracking echocardiography (2DSTE) were performed and evaluated in the Radboud University Hospital Nijmegen, the Netherlands. In total, 19 children diagnosed with PWS and 38 age-matched control subjects underwent cardiac evaluation.Results: Abnormal ECG findings were detected in nine PWS patients. Echocardiography revealed mild structural cardiac abnormalities in two patients. Conventional echocardiographic findings did not indicate systolic left ventricular dysfunction, in contrast to 2DSTE examination. Global peak systolic strain (rate) measurements, in all three directions of contraction, were significantly lower in children with PWS (p < 0.001) compared with healthy age-matched children. In two-thirds of the patients, 2DSTE revealed abnormal systolic deformation (peak systolic strain as well as strain rate). T2P values in PWS patients were similar to control subject. Systolic myocardial function appears more affected in case of maternal uniparental disomy.Conclusion: Cardiac evaluation, including 2DSTE, detects frequent alterations in myocardial systolic function in children diagnosed with PWS, whose conventional echocardiographic findings did not indicate ventricular systolic dysfunction. Because cardiovascular morbidity and mortality is substantial in PWS, especially adults, we emphasize the need for cardiac assessment in PWS.