+ - + +/- + - - Syndrome Angelman + + - - - +/- + - PowerPoint PPT Presentation

Intellectual Language Visual- ADHD Anxiety Autistic Seizures Disability Disability Spatial Features Problems Williams + - + +/- + - - Syndrome Angelman + + - - - +/- + Syndrome Rett + + - - + + + Syndrome Down + + - - - +/- - Syndrome 16p11.2 +/- + - +/- +/- + +/- deletion

Immunofluorescence against Mll2 ( WT)

SGZ

Cognitive Defect in DG Visuospatial Profile Seen Neurogenesis Deficits in KS????

Patient Patient Patient Patient Patient 1 2 3 4 5 Neuropsychologic 28 yrs 7 yrs 15 yrs 11 yrs 14 yrs process/function Female Male Female Female Male Full Scale IQ 87 N/A 84 71 66 Perceptual or ↓ ↓ ↓ ↓ Non-verbal N/A Reasoning* Verbal Reasoning/ ↓ Normal Normal Normal Normal Comprehension Expressive ↓ ↓ Normal Normal Normal Language ↓ ↓ ↓ ↓ Processing Speed N/A Basic Math ↓ ↓ ↓ Normal N/A N/A Calculation = deficient area (defined as >1 SD below test mean + lower than full Visual Selective ↓ ↓ ↓ scale IQ or if that is unavailable, highest individual test score) N/A N/A Attention* Visual Working ↓ ↓ ↓ ↓ N/A Memory* Yellow = function has been linked to dentate gyrus; Verbal Working ↓ Normal Normal Normal Normal * = Function has been linked to hippocampus; Memory* Visual Delayed ↓ ↓ ↓ N/A N/A Memory* Verbal Delayed ↓ ↓ ↓ Normal Normal Memory* Switching/ ↓ ↓ N/A Normal N/A Inhibition Verbal Normal N/A Normal Normal N/A Organization Visual ↓ ↓ ↓ N/A N/A Organization* ↓ ↓ ↓ ↓ ↓ Fine Motor N/A = not adequately tested with testing regimen;

From Goldman Nat Biotech 2005

SSRI Increased Hippocampal Neurogenesis Decreased Anxiety (+Improved Cognition in KS???)

Intellectual Language Visual- ADHD Anxiety Autistic Seizures Hypotonia Disability Disability Spatial Features Problems Kabuki + (not - + +/- (often + (often - +/- (10- + (usually Syndrome always present in appears later 40%) profound in present and early life and like in early life and often mild) disappears preteen mild later) later) years) • Problems creating new memories (particularly visuospatial) but good retention once memory created • Memory may be able to be formed and retained with frequent repetition