Elena Garayzábal

How executive functions are related to intelligence in Williams syndrome

Williams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group of 17 typically developing individuals matched on chronological age and gender. In conclusion, our results suggest that working memory, inhibiting, and shifting relate differently to intelligence in WS as well as in typical development, with working memory being the EF most closely related to intelligence in both groups. Notably, the magnitude of the associations between the three EFs and IQ was substantially higher in the WS group than in the TD group, bringing further confirmation to the notion that frontal lobe impairments may produce a general compromise of several EFs.

MRI amygdala volume in Williams Syndrome.

One of the most intriguing characteristics of Williams Syndrome individuals is their hypersociability. The amygdala has been consistently implicated in the etiology of this social profile, particularly given its role in emotional and social behavior. This study examined amygdala volume and symmetry in WS individuals and in age and sex matched controls. Magnetic resonance imaging scans were obtained on a GE 1.5-T magnet with 1.5-mm contiguous slices and were used to measure whole gray matter, white matter and cerebrospinal fluid volumes, as well as amygdala volume (right and left). Results revealed significantly reduced intracranial volume in individuals with WS, compared with controls. There were no differences between groups in absolute amygdalae volume, although there was a relative increase in amygdalae volumes, when adjusted for total intracranial content. There were no inter-hemispheric differences in amygdalae volumes in both groups. These results suggest a relative increase in amygdala volume in WS compared with healthy controls that likely reflects abnormal neurodevelopmental processes of midline brain structures.

Differences on morphological and phonological processing between typically developing children and children with Down syndrome.

It is widely acknowledged that people with Down syndrome (Ds) have less highly developed morphosyntactic abilities than typically developing (TD) children. However, little is known about the morphological processing of this population. In this paper we carry out two experiments in which the morphological Base Frequency (BF) effect is explored in both groups. The aim of the experiments is to carry out an in-depth exploration of morphological processing in children with Ds and TD children. In the first experiment children performed a definition task; in the second children had to provide a plural form for singular words. The results show a significant BF effect in only the first experiment. In the second experiment this morphological variable does not reach significance, but the variable we called Ending phoneme (a phonological variable that refers to the last phoneme of the bases prior to the addition of plural morphemes) does. The results also show that children with Ds score significantly below the two control groups in both experiments, with no significant differences between control groups. We go on to discuss morphological processing in children with and without Ds, the role of the two tasks carried out (paying special attention to the role played by working memory), and the possible relationship between our results and morphosyntactic deficits described in the literature.

Cognitive functioning in children and adults with Smith-Magenis syndrome.

Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age.

Uncommon genetic syndromes and narrative production - Case Studies with Williams, Smith-Magenis and Prader-Willi Syndromes?

Abstract This study compares narrative production among three syndromes with genetic microdeletions: Williams syndrome (WS), Smith-Magenis syndrome (SMS), and Prader-Willi syndrome (PWS), characterized by intellectual disabilities and relatively spared language abilities. Our objective is to study the quality of narrative production in the context of a common intellectual disability. To elicit a narrative production, the task Frog! Where Are You was used. Then, structure, process, and content of the narrative process were analysed in the three genetic disorders: WS (n = 2), SMS (n = 2), and PWS (n = 2). Data show evidence of an overall low narrative quality in these syndromes, despite a high variability within different measures of narrative production. Results support the hypothesis that narrative is a highly complex cognitive process and that, in a context of intellectual disability, there is no evidence of particular ‘hypernarrativity’ in these syndromes.

Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems

This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes—Williams syndrome (WS) and autism spectrum disorder (ASD)—and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included 16 pre-schoolers with WS and 43 with ASD, and their mothers. Responsiveness was assessed during a mother–child interaction task. Mothers completed the CBCL 1½–5, providing a measure of EBP. No significant differences emerged between groups, and most dyads were characterized by less responsive behaviours. Maternal responsiveness proved related to child developmental age, but not with EBP. These results provide further insight into the rearing environment of children with neurodevelopmental disorders, highlighting the need for early relationship-based interventions.