Psychopathology in Williams Syndrome: the effect of individual differences across the life span

The present research aimed to comprehensively explore psychopathology in Williams syndrome (WS) across the lifespan and evaluate the relationship between psychopathology and age category (child or adult), gender and cognitive ability. The parents of 50 participants with WS, aged 6-50 years, were interviewed using the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS-PL). The prevalence of a wide range of Axis I DSM-IV disorders was assessed. In addition to high rates of anxiety and Attention Deficit Hyperactivity Disorder (ADHD) (38% and 20% respectively), 14% of our sample met criteria for a depressive disorder and 42% of participants were not experiencing any significant psychopathological difficulties. There was some evidence for different patterns of psychopathology between children and adults with WS and between males and females. These relationships were largely in keeping with those found in the typically developing population, thus supporting the validity of applying theory and treatment approaches for psychopathology in the typically developing population to WS.

Interpretation of ambiguous situations: evidence for a dissociation between social and physical threat in Williams syndrome

Williams Syndrome (WS) is associated with an unusual profile of anxiety, characterised by increased rates of non-social anxiety but not social anxiety (Dodd & Porter, 2009). The present research examines whether this profile of anxiety is associated with an interpretation bias for ambiguous physical, but not social, situations. Sixteen participants with WS, aged 13-34 years, and two groups of typically developing controls matched to the WS group on chronological age (CA) and mental age (MA), participated. Consistent with the profile of anxiety reported in WS, the WS group were significantly more likely to interpret an ambiguous physical situation as threatening than both control groups. However, no between-group differences were found on the ambiguous social situations.

There’s that scary picture: attention bias to threatening scenes in Williams syndrome

There is increasing evidence that Williams syndrome (WS) is associated with elevated anxiety that is non-social in nature, including generalised anxiety and fears. To date very little research has examined the cognitive processes associated with this anxiety. In the present research, attentional bias for non-social threatening images in WS was examined using a dot-probe paradigm. Participants were 16 individuals with WS aged between 13 and 34 years and two groups of typically developing controls matched to the WS group on chronological age and attentional control ability respectively. The WS group exhibited a significant attention bias towards threatening images. In contrast, no bias was found for group matched on attentional control and a slight bias away from threat was found in the chronological age matched group. The results are contrasted with recent findings suggesting that individuals with WS do not show an attention bias for threatening faces and discussed in relation to neuroimaging research showing elevated amygdala activation in response to threatening non-social scenes in WS.

I see happy people: attention bias towards happy but not angry facial expressions in Williams syndrome

Introduction: Observations of behaviour and research using eye-tracking technology have shown that individuals with Williams syndrome (WS) pay an unusual amount of attention to other people’s faces. The present research examines whether this attention to faces is moderated by the valence of emotional expression. Method: Sixteen participants with WS aged between 13 and 29 years (Mean=19 years 9 months) completed a dot-probe task in which pairs of faces displaying happy, angry and neutral expressions were presented. The performance of the WS group was compared to two groups of typically developing control participants, individually matched to the participants in the WS group on either chronological age or mental age. General mental age was assessed in the WS group using the Woodcock Johnson Test of Cognitive Ability Revised (WJ-COG-R; Woodcock & Johnson, 1989; 1990). Results: Compared to both control groups, the WS group exhibited a greater attention bias for happy faces. In contrast, no between-group differences in bias for angry faces were obtained. Conclusions: The results are discussed in relation to recent neuroimaging findings and the hypersocial behaviour that is characteristic of the WS population.

Beyond behaviour: is social anxiety low in Williams syndrome

Individuals with Williams syndrome (WS) exhibit striking social behaviour that may be indicative of abnormally low social anxiety. The present research aimed to determine whether social anxiety is unusually low in WS and to replicate previous findings of increased generalised anxiety in WS using both parent and self report. Fifteen individuals with WS aged 12-28 years completed the Spence Children’s Anxiety Scale (SCAS) and the Children’s Automatic Thoughts Scale (CATS). Their responses were compared to clinically anxious and community comparison groups matched on mental age. The findings suggest that WS is not associated with unusually low social anxiety but that generalised anxiety symptoms and physical threat thoughts are increased in WS, relative to typically developing children.

Social approach in preschool children with Williams syndrome: the role of the face

Background Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in preschoolers with WS and evaluates the role of the face in WS social approach behaviour. Method Ten preschoolers with WS (aged 3-6 years) and two groups of typically developing children, matched to the WS group on chronological or mental age, participated in an observed play session. The play session incorporated social and non-social components including two components that assessed approach behaviour towards strangers, one in which the stranger’s face could be seen and one in which the stranger’s face was covered. Results In response to the non-social aspects of the play session, the WS group behaved similarly to both control groups. In contrast, the preschoolers with WS were significantly more willing than either control group to engage with a stranger, even when the stranger’s face could not be seen. Conclusion The findings challenge the hypothesis that an unusual attraction to the face directly motivates social approach behaviour in individuals with WS.

Attention bias to emotional faces varies by IQ and anxiety in Williams syndrome

Individuals with Williams syndrome (WS) often experience significant anxiety. A promising approach to anxiety intervention has emerged from cognitive studies of attention bias to threat. To investigate the utility of this intervention in WS, this study examined attention bias to happy and angry faces in individuals with WS (N=46). Results showed a significant difference in attention bias patterns as a function of IQ and anxiety. Individuals with higher IQ or higher anxiety showed a significant bias toward angry, but not happy faces, whereas individuals with lower IQ or lower anxiety showed the opposite pattern. These results suggest that attention bias interventions to modify a threat bias may be most effectively targeted to anxious individuals with WS with relatively high IQ.

Le développement de la prosodie dans le syndrome de Williams et le syndrome de Down chez des enfants de langue anglaise

The aim of the present study is to investigate the developmental profile of three aspects of prosody function, i.e. affect, focus and turn-endings in children with Williams and in those with Down’s syndrome compared to typically developing English speaking children. The tasks used were part of the computer-based battery, Profiling Elements of Prosody for Speech Communication (Peppe, McCann & Gibon, 2003). Cross-sectional developmental trajectories linking chronological and non-verbal mental age and affects and turn-ending functions of prosody were constructed. The results showed an atypical profile in both clinical populations. More interestingly, the profiles were atypical for different reasons, suggesting multiple and possibly different developmental pathways to the acquisition of prosody in these two populations.

Analysis of speech fluency in Williams syndrome

Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure - a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus - the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS. (C) 2011 Elsevier Ltd. All rights reserved.

Psycholinguistic abilities of children with Williams syndrome

The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N = 20, mean age = 8.5 years, SD = 1.62) and two typically developing groups, matched in mental (MA, N = 20, mean age = 4.92 years, SD = 1.14) and chronological age (CA, N = 19, mean age = 8.35 years, SD = 3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS. (C) 2011 Elsevier Ltd. All rights reserved.

Syndrome packets and health worker training improve sexually transmitted disease case management in rural South Africa: randomized controlled trial

Background: Sexually transmitted diseases (STD) are important co-factors in HIV transmission. We studied the impact of health worker training and STD syndrome packets (containing recommended drugs, condoms, partner notification cards and information leaflets) on the quality of STD case management in primary care clinics in rural South Africa. Methods: A randomized controlled trial of five matched pairs of clinics compared the intervention with routine syndromic management. Outcomes were measured by simulated patients using standardized scripts, and included the proportion given recommended drugs; correctly case managed (given recommended drugs plus condoms and partner cards); adequately counselled; reporting good staff attitude; and consulted in privacy. Results: At baseline, the quality of STD case management was similarly poor in both groups. Only 36 and 46% of simulated patients visiting intervention and control clinics, respectively, were given recommended drugs. After the intervention, intervention clinics provided better case management than controls: 88 versus 50% (P < 0.01) received recommended drugs; 83 versus 12% (P < 0.005) were correctly case managed; 68 versus 46% (P = 0.06) were adequately counselled; 84 versus 58% experienced good staff attitude (P = 0.07); and 92 versus 86% (P = 0.4) were consulted privately. A syndrome packet cost US$1.50; the incremental cost was US$6.80. The total intervention cost equalled 0.3% of annual district health expenditure. Interpretation: A simple and affordable health service intervention achieved substantial improvements in STD case management. Although this is a critical component of STD control and can reduce HIV transmission, community-level interventions to influence health-seeking behaviour are also needed. (C) 2000 Lippincott Williams & Wilkins.

Primary Antiphospholipid Syndrome and Thyroid Involvement

Background: Data on thyroid involvement in primary antiphospholipid syndrome are scarce and inconclusive. Objectives: The aim of this study was to evaluate the frequency of thyroid dysfunction and antibodies in patients with primary antiphospholipid syndrome ( PAPS) and the association of these alterations with clinical and immunologic features. Methods: The study group included 50 PAPS patients (44 females) with a mean age of 39.7 +/- 11.5 years and mean disease duration of 77.3 +/- 63.5 months. Clinical data related to thyroid dysfunction and PAPS were obtained by chart review, patient interview, and clinical examination. Serum levels of TSH, free T4, antithyroglobulin antibody (TgAb), antithyroperoxidase antibody (TPOAb), thyroid receptor antibody (TRAb), and antiphospholipid autoantibodies were analyzed by standard techniques. Results: We found no hyperthyroidism among patients and found 22% (11 patients) with hypothyroidism in this sample. There were no differences between the latter patients and the euthyroid group about demographic findings, disease duration, thrombotic or obstetric events, and frequency of antiphospholipid antibodies as well as prevalence of thyroid auto antibodies. The prevalence of thyroid autoantibodies found was 6 patients (12%) with TgAb, 5 with TPOAb (10%), and 2 patients (4%) with both TgAb and TPOAb, comprising 18% of positivity of at least one of the auto antibodies. Conclusion: Hypothyroidism is present among 22% of PAPS patients and thyroid autoantibodies in 18% of them. These findings suggest a common pathophysiologic mechanism between antiphospholipid syndrome and autoimmune thyroid diseases.

Hepatic Steatosis, Obesity, and the Metabolic Syndrome Are Independently and Additively Associated With Increased Systemic Inflammation

Objective-The goal of this study was to assess the independent and collective associations of hepatic steatosis, obesity, and the metabolic syndrome with elevated high-sensitivity C-reactive protein (hs-CRP) levels. Methods and Results-We evaluated 2388 individuals without clinical cardiovascular disease between December 2004 and December 2006. Hepatic steatosis was diagnosed by ultrasound, and the metabolic syndrome was defined using National Heart, Lung, and Blood Institute criteria. The cut point of >= 3 mg/L was used to define high hs-CRP. Multivariate logistic regression was used to assess the independent and collective associations of hepatic steatosis, obesity, and the metabolic syndrome with high hs-CRP. Steatosis was detected in 32% of participants, 23% met criteria for metabolic syndrome, and 17% were obese. After multivariate regression, hepatic steatosis (odds ratio [OR] 2.07; 95% CI 1.68 to 2.56), obesity (OR 3.00; 95% CI 2.39 to 3.80), and the metabolic syndrome (2.39; 95% CI 1.88 to 3.04) were all independently associated with high hs-CRP. Combinations of these factors were associated with an additive increase in the odds of high hs-CRP, with individuals with 1, 2, and 3 factors having ORs for high hs-CRP of 1.92 (1.49 to 2.48), 3.38 (2.50 to 4.57), and 4.53 (3.23 to 6.35), respectively. Conclusion-Hepatic steatosis, obesity, and the metabolic syndrome are independently and additively associated with increased odds of high hs-CRP levels. (Arterioscler Thromb Vasc Biol. 2011; 31: 1927-1932.)