What is William’s Syndrome? very rare genetic disorder (1 in 7000) significant intellectual impairment attracts a lot of research interest because we know the genes involved Environmental Causes of WS environment doesn’t contribute to the cause of WS it’s a genetic disorder therefore very little research Phenotype 1: Facial features widely spaced eyes wide mouth with full lips widely spaced teeth Phenotype 2: Health concerns Cardiac problems feeding difficulties connective tissue abnormalities Phenotypes 3: behaviour extremely social but limited understanding of social norms difficulty making and maintaining friendships high rates of co-morbidity with: ADHD; ASD (some aspects); Anxiety disorders (particularly around social situations); Depression (increasing problem in adulthood) Genetics William’s deletion region on chromosome 7 around 25 genes just deleted One of the genes, Elastin (ELN), is implicated in heart defects and tissue abnormalities use FISH technique to tag genes which determines whether or not that gene is present in the individual If ELN is not present they can be certain that the child has WS What are the effects of these genes? sometimes can have complete deletion but there are individuals with partial deletion can make comparisons between those with the full/partial mutation to get clues about genes are responsible for what LIMK1 = spatial deficit (those who have gene are better than those who don’t) but not always found in other studies deleting LIMK1 in mice impaired spatial ability but spatial task in humans an d mice are different MEYER-LIDENBERG 2006 reduced brain size overall but particularly in the intraparietal sulcus, hypothalamus and the orbitofrontal cortex problems with the cerebellum corpus callosum shape changes visual cortex in particular experiences altered cell size and density Intraparietal sulcus perceptual-motor coordination (for directing eye movements and reaching) and visual attention. Hypothalamus to link the nervous system to the endocrine system via the pituitary gland Orbitofrontal cortex cognitive processing of decision-making Cerebellum motor control Corpus callosum facilitates hemispheric communication What do we use double dissociations for? to argue that WS is the opposite of SLI and ASD e.g. ASD lack of social, WS very social Deficit in visuo-spatial construction to answer this take another group who are also intellectually impaired and see if WS are worse on visuo-spatial tasks If they are worse, then their visuo-spatial skills are worse than expected for their non-verbal IQ WS children have visuo-spatial skills for worse than expected verbal abilities poor drawing of an elephant but very vivid language description of an elephant Visuo-spatial skills are generally distinct from other cognitive abilities Intact language ability? WS teen able to tell a story about the escape of a frog from a jar Included key element plus extra info (e.g. weather) DS teen could not tell the story i.e. it lacked key element of escape same IQ and age REILLY et al 2004 Frog story as told by SLI children and WS children WS can give a much better resolution to the end of the story than the SLI children Degree of language impairment delayed language acquisition early language and cognitive development closely linked receptive language better than other aspects of language such as poor relational vocab (under) and abstract knowledge Pragmatic language deficits (WS are very literal) REILLY et al 2004 narrative skill similarities amount of words and sentences said morphosyntactic errors (past tense, conjugations, plurals) grammatical complexity REILLY et al 2004 narrative skill differences WS more likely to make evaluative comments commented on affective states of characters used character speech used emphatic speech (to draw audience in) Due to hyper-social ability? Hyper-social ability very friendly, talkative and socially disinhibited very good at recognising facial emotions though they may be using different cognitive/neurobiological strategies than normal reason for difference because WS children spend more time looking the face than those with ASD and in TD RIBY & HANCOCK 2008 AIM to look at the difference between TD, ASD and WS for looking at a scene RIBY & HANCOCK 2008 PROCEDURE used eye tracking devices to look at how someone examined social scenes WS and ASD groups matched to peers on age and matrix reasoning ability RIBY & HANCOCK 2008 RESULTS WS spent most the time fixating on the faces (particularly the eyes) of the scene and nothing else, ASD spent more time looking at background than the other 2 groups Similarities to ASD difficulties with peers impairments in FB poor understanding of social norms pragmatic language difficulties Differences to ASD social disinhibition makes children more vulnerable to exploitation difficulties gaining maintain employment Executive dysfunction explains hyper-social ability Impairments in inhibition planning monitoring selective attention Motor skills deficit explains hyper-social ability? Sticky fixations so have problems on visual search and poor joint attention CORNISH et al 2012 aim look at attention and reading ability in those with DS and WS CORNISH et al 2012 procedure longitudinal study Measured: behavioural inattention, receptive vocab, letter knowledge, phonological awareness and reading CORNISH et al 2012 results attention deficits worse in WS than DS but both worse than controls Reading ability was matched at T1 and 2 but there was a difference in communicative abilities in vocabulary Deficit only predicted poorer literacy in DS = syndromes have difficulty focusing on different things i.e. the disorders have "syndrome-specific attention deficits"