title: Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.
abstract: Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered, the benefits of interventions they experienced, and the experiences with healthcare professionals they mentioned. We interviewed 10 adults with Noonan syndrome (two were joined by their parent), and 23 mothers (five of whom had Noonan syndrome), nine fathers (one of whom had Noonan syndrome) and one cousin who reported on 28 children with Noonan syndrome. People with Noonan syndrome reported particular problems related to pain, decreased muscle strength, fatigue, and clumsiness, which had an evident impact on functioning in daily life. Most participants believed that problems with motor performance improved with exercise, appropriate physiotherapy guidance, and other supportive interventions. Nevertheless, people with Noonan syndrome and/or their relatives did not feel heard and supported and experienced no understanding of their problems by healthcare professionals. This was the first study from a patient perspective that described the motor performance problems in people with Noonan syndrome, the major consequences in daily life, the positive experiences of interventions and the miscommunication with healthcare professionals. To achieve optimal support, healthcare professionals, as well as people with Noonan syndrome and/or their relatives themselves, should be aware of these frequently presented problems with motor performance. Research on these different aspects is needed to better understand and support people with Noonan syndrome.© 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Ellen A
authors.initials: EA
authors.lastname: Croonen
authors.affiliation: Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: Harmsen
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Ineke
authors.initials: I
authors.lastname: Van der Burgt
authors.affiliation: Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Jos M
authors.initials: JM
authors.lastname: Draaisma
authors.affiliation: Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Kees
authors.initials: K
authors.lastname: Noordam
authors.affiliation: Department of Rehabilitation, Pediatric Physical Therapy, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Marlou
authors.initials: M
authors.lastname: Essink
authors.affiliation: Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, The Netherlands.|Department of Rehabilitation, Pediatric Physical Therapy, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Maria W G
authors.initials: MW
authors.lastname: Nijhuis-van der Sanden
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005190:Family; D005221:Fatigue; D005260:Female; D017144:Focus Groups; D006801:Humans; D007223:Infant; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D010146:Pain; D010465:Perception; D010641:Phenotype; D011597:Psychomotor Performance
keywords: Noonan syndrome; consequence; intervention; interview; motor performance