Abstract
Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with
the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome
15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform
diagnostic methods which would result in the detection of most affected individuals.
The objective was to report the clinical criteria and oro-dental features in PWS,
to report the effect of diet and laser acupuncture on PWS and highlighted an easy
effective method for early diagnosis of individuals with PWS. The study included seventeen
cytogenetically proven individuals with Prader-Willi syndrome. These patients were
subjected to meticulous history taking, clinical examination including oro-dental
examination, bone densitometry and neuropsychiatric evaluation. They received laser
acupuncture sessions in addition to nutrition intervention. All cases had characteristic
facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were
present in different percentages. Karyotyping revealed deletion 15q11-q13 in 6 patients,
and fluorescence in situ hybridization (FISH) revealed a microdeletion in 15q11–q13
in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved
tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture
sessions and diet were effective in weight decline for PWS patients. Our study emphasizes
the importance of early detection of PWS, laser sessions, diet restriction and oro-dental
examination in the follow up of patients with Prader Willi syndrome.
Keywords
early PWS detection - management - oro-dental findings - PWS diagnostic strategy -
weight loss
