Alterations in white matter pathways in Angelman syndrome

• DOI: 10.1111/j.1469-8749.2010.03838.x
• Publication Date: 2010-12-01T21:03:09Z
• Authors: SARIKA U PETERS; WALTER E KAUFMANN; CARLOS A BACINO; ADAM W ANDERSON; PAVANI ADAPA; ZILI CHU; RAGINI YALLAMPALLI; ELFRIDES TRAIPE; JILL V HUNTER; ELISABETH A WILDE
• Keywords: Fasciculus; Angelman Syndrome; Inferior longitudinal fasciculus; Uncinate fasciculus

Angelman syndrome is a neurogenetic disorder characterized by severe intellectual disability, absent speech, seizures, and outbursts of laughter. The aim this study was to utilize diffusion tensor imaging (DTI) examine alterations in white matter pathways syndrome, with an emphasis on correlations clinical severity.DTI used the arcuate fasciculus (AF), uncinate (UF), inferior longitudinal (ILF), fronto-occipital (IFOF), corpus callosum (CC). We enrolled 14 children aged 8 17 years (mean age 10y 8mo; SD 2y 7mo) (seven male; seven female) 13 typically developing children, years, for comparison (five eight female; mean 12y; 9mo). Individuals were assessed using standardized measures development, language, behaviour.The exhibited lower fractional anisotropy increased radial diffusivity values than group AF, UF, ILF, CC (p < 0.006 corrected multiple comparisons). They also had IFOF higher left 0.006). Additionally, significantly apparent coefficient CC, Significant noted between DTI parameters some assessment outcomes (e.g. socialization, cognition) three temporal (AF, ILF; p 0.05).Changes individuals suggest decreased/delayed myelination, decreased axonal density or diameter, aberrant organization. Our findings generalized alteration throughout brain those syndrome; however, only associated language cognitive social functioning.