title: Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.
abstract: Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965-2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561-567, 2016. © 2015 Wiley Periodicals, Inc.
authors.affiliation: School of Physical Therapy, University of Saskatchewan, Saskatoon, Canada.
authors.forename: Rohit
authors.initials: R
authors.lastname: Sachdeva
authors.affiliation: School of Physical Therapy, University of Saskatchewan, Saskatoon, Canada.
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Donkers
authors.affiliation: School of Physical Therapy, University of Saskatchewan, Saskatoon, Canada.
authors.forename: Soo Y
authors.initials: SY
authors.lastname: Kim
mesh_terms: D017204:Angelman Syndrome / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology*; D003937:Diagnosis, Differential; D019468:Disease Management; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000209:etiology; D015995:Prevalence; D011379:Prognosis; D012886:Skull / Q000473:pathology*
keywords: Happy Puppet syndrome; chromosomal disease; craniofacial; neurodevelopmental disorder