Williams Syndrome Research Papers - Academia.edu (original) (raw)

Functional imaging in humans and anatomical data in monkeys have implicated the insula as a multimodal sensory integrative brain region. The topography of insular connections is organized by its cytoarchitectonic regions. Previous... more

Functional imaging in humans and anatomical data in monkeys have implicated the insula as a multimodal sensory integrative brain region. The topography of insular connections is organized by its cytoarchitectonic regions. Previous attempts to measure the insula have utilized either indirect or automated methods. This study was designed to develop a reliable method for obtaining volumetric magnetic resonance imaging (MRI) measurements of the human insular cortex, and to validate that method by examining the anatomy of insular cortex in adults with Williams syndrome (WS) and healthy age-matched controls. Statistical reliability was obtained among three raters for this method, supporting its reproducibility not only across raters, but within different software packages. The procedure described here utilizes native-space morphometry as well as a method for dividing the insula into connectivity-based sub-regions estimated from cytoarchitectonics. Reliability was calculated in both ANALYZE (n=3) and BrainImageJava (N=10) where brain scans were measured once in each hemisphere by each rater. This highly reliable method revealed total, anterior, and posterior insular volume reduction bilaterally (all p’s < .002) in WS, after accounting for reduced total brain volumes in these participants. Although speculative, the reduced insular volumes in WS may represent a neural risk for the development of hyperaffiliative social behavior with increased specific phobias, and implicate the insula as a critical limbic integrative region. Native-space quantification of the insula may be valuable in the study of neurodevelopmental or neuropsychiatric disorders related to anxiety and social behavior.

Aim: To produce a growth reference for British children with Williams syndrome. Methods: The children and adults recruited into the study were all affiliated to the Williams Syndrome Foundation, a parent support group founded in 1979.... more

Aim: To produce a growth reference for British children with Williams syndrome. Methods: The children and adults recruited into the study were all affiliated to the Williams Syndrome Foundation, a parent support group founded in 1979. They have all been shown to have a deletion of chromosome 7q11.23. One growth nurse (WRS) prospectively measured the weight, height and head circumference of individuals from 19 regions in Great Britain including Scotland, England and Wales. 169 children and adults were measured on up to four occasions between 2001 and 2004 (275 measurements). In addition, retrospective data were obtained from the hospital notes of 67 of these individuals (586 measurements). Centile curves were constructed using Cole's LMS method. Results: The centile charts differ from charts previously derived in the USA and Germany and provide more appropriate standards for the British population. Conclusions: We propose that these charts be adopted for routine clinical practice as abnormalities in growth are an important feature of this syndrome.

Introduction to the SeriesGenetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some... more

Introduction to the SeriesGenetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some characteristics are unique and can be detected with echocardiography. Drs Alizad and Seward have compiled in this series a review of genetic disorders that have recognizable morphologic and/or functional cardiovascular abnormalities. The following

Background: There is recent interest in using music making as an empirically supported intervention for various neurodevelopmental disorders due to music's engagement of perceptual-motor mapping processes. However, little is known about... more

Background: There is recent interest in using music making as an empirically supported intervention for various neurodevelopmental disorders due to music's engagement of perceptual-motor mapping processes. However, little is known about music learning in populations with developmental disabilities. Williams syndrome (WS) is a neurodevelopmental genetic disorder whose characteristic auditory strengths and visual-spatial weaknesses map onto the processes used to learn to play a musical instrument.
METHODS:
We identified correlates of novel musical instrument learning in WS by teaching 46 children and adults (7-49 years) with WS to play the Appalachian dulcimer.
RESULTS:
Obtained dulcimer skill was associated with prior musical abilities (r = 0.634, P < 0.001) and visual-motor integration abilities (r = 0.487, P = 0.001), but not age, gender, IQ, handedness, auditory sensitivities or musical interest/emotionality. Use of auditory learning strategies, but not visual or instructional strategies, predicted greater dulcimer skill beyond individual musical and visual-motor integration abilities (β = 0.285, sr(2) = 0.06, P = 0.019).
CONCLUSIONS:
These findings map onto behavioural and emerging neural evidence for greater auditory-motor mapping processes in WS. Results suggest that explicit awareness of task-specific learning approaches is important when learning a new skill. Implications for using music with populations with syndrome-specific strengths and weakness will be discussed.

The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmen tal... more

The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmen tal disorder, a specific neuropsychological profile, and abnormal brain organization. We report on a dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age-and IQ-matched Down syndrome adolescents. The Williams syndrome individuals exhibit an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax. Differences in spatial cognitive abilities in the 2 groups are investigated, showing peaks and valleys of abilities specific to Williams syndrome individuals. These neurobehavioral profiles are explored in light of new evidence regarding neurologic and neuroana tomical differences between the 2 matched groups of adolescents. Results from these combined studies should help clarify the neural systems that mediate language and cognitive functions.

This study examines the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers as well as the predictors of anxiety in these groups. The prevalence of anxiety disorders was... more

This study examines the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers as well as the predictors of anxiety in these groups. The prevalence of anxiety disorders was assessed and compared to that in the general population. Children with WS had a significantly higher prevalence of specific phobia, generalized anxiety disorder (GAD), and separation anxiety in comparison to children in the general population. While mothers had a higher prevalence of GAD than population controls, the excess was accounted for by mothers who had onset after the birth of their WS child. The siblings had rates similar to the general population. This pattern of findings suggests the presence of a gene in the WS region whose deletion predisposes to anxiety disorders. It is also worthwhile to investigate relations between genes deleted in WS and genes previously implicated in anxiety disorders.

A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen... more

A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from epidemiological data in the first three waves of the Australian Child to Adult Development study, and cross validated for groups with autism, fragile X, Prader-Willi, and Williams in this longitudinal study and in cross sectional Dutch, English, and Finnish samples of young people with intellectual disability. The DBC-P24 has low bias and high precision in cross-validation samples and achieves high sensitivity and specificity to full DBC-P based caseness decisions.

A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the... more

A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N ¼ 52);... more

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N ¼ 52); children with specific language impairment (SLI; N ¼ 44); children with Williams syndrome (WMS; N ¼ 36), and typically developing controls. We compare the developmental trajectories of these groups in the following domains: morphological errors, use of complex syntax, complexity of narrative structure, and types and frequency of evaluative devices. For the children with early unilateral brain damage, there is initial delay. However, by age 10, they are generally within the normal range of performance for all narrative measures. Interestingly, there are few, if any, side specific differences. Children with SLI, who have no frank neurological damage and show no cognitive impairment demonstrate significantly more delay on all morphosyntactic measures than the FL group. Quantitatively, on morphosyntactic measures, the SLI group clusters with those children with WMS who are moderately retarded. Together these data help us to understand the extent and nature of brain plasticity for language development and those aspects of language and discourse that are dissociable.

Al l scientists studying normal and atypical development -from the staunchest Chomskyan nativist to the most domain-general empiricist -agree that development involves contributions from both genes and environment. The gulf between the... more

Al l scientists studying normal and atypical development -from the staunchest Chomskyan nativist to the most domain-general empiricist -agree that development involves contributions from both genes and environment. The gulf between the theories lies in how genes and environment are claimed to contribute to developmental outcomes. At some level, of course, we all concur in the existence of some degree of innate specification. The difference in positions concerns how rich and how domain-specific the innately specified component is, whether development is the result of predetermined epigenesis 1 (mere triggering) or probabilistic epigenesis 1 , and what happens when things go wrong. These differences in position influence the focus of the questions asked (nature or nurture, on the one hand, versus the mechanisms of progressive developmental change, on the other) and the way in which developmental disorders are studied.

Background: This article provides an introduction to current models of working and short-term memory, their links with learning, and diagnosis of impairments. The memory impairments associated with a range of neurodevelopmental disorders... more

Background: This article provides an introduction to current models of working and short-term memory, their links with learning, and diagnosis of impairments. The memory impairments associated with a range of neurodevelopmental disorders (Down's syndrome, Williams syndrome, Specific Language Impairment, and attentional deficits) are discussed.Methods: Methods of alleviating the adverse consequences of working and short-term memory impairments for learning are identified.Conclusion: Impairments of short-term and working memory are associated with learning difficulties that can be substantial, and that can be minimised by appropriate methods of remedial support.

Rectal prolapse in children is not uncommon, but surgery is rarely indicated. In mentally challenged adults and children, rectal prolapse occurs more frequently than in the general population and often requires surgical intervention in... more

Rectal prolapse in children is not uncommon, but surgery is rarely indicated. In mentally challenged adults and children, rectal prolapse occurs more frequently than in the general population and often requires surgical intervention in the second to third decade of life. The authors describe 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated with mental retardation alone. All 3 children required surgical intervention.

Background: Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes. Whilst individuals with autism show a lack of interest in socially important cues, individuals with WS often show... more

Background: Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes. Whilst individuals with autism show a lack of interest in socially important cues, individuals with WS often show increased interest in socially relevant information. Methods: The current eye-tracking study explores how individuals with WS and autism preferentially attend to social scenes and movie extracts containing human actors and cartoon characters. The proportion of gaze time spent fixating on faces, bodies and the scene background was investigated. Results: Whilst individuals with autism preferentially attended to characters' faces for less time than was typical, individuals with WS attended to the same regions for longer than typical. For individuals with autism atypical gaze behaviours extended across human actor and cartoon images or movies but for WS atypicalities were restricted to human actors. Conclusions: The reported gaze behaviours provide experimental evidence of the divergent social interests associated with autism and WS.

This study presents experimental results on syntactic binding of reflexive and non-reflexive pronouns and on the comprehension of active and passive sentences in eight adolescents with Down's Syndrome (DS), and 10 with Williams Syndrome... more

This study presents experimental results on syntactic binding of reflexive and non-reflexive pronouns and on the comprehension of active and passive sentences in eight adolescents with Down's Syndrome (DS), and 10 with Williams Syndrome (WS). We propose a syntactic account of the difficulties of people with DS in these domains. We also compare our results on DS and WS with previous findings from studies using the same experimental tasks on adolescents with Specific Language Impairment (SLI). Distinct patterns of linguistic impairment were found for these developmental disorders indicating that at least in these syntactic domains different genetic etiologies are associated with different specifically linguistic patterns of impairment. q

Emotional connection is the main reason people engage with music, and the emotional features of music can influence processing in other domains. Williams syndrome (WS) is a neurodevelopmental genetic disorder where musicality and... more

Emotional connection is the main reason people engage with music, and the emotional features of music can influence processing in other domains. Williams syndrome (WS) is a neurodevelopmental genetic disorder where musicality and sociability are prominent aspects of the phenotype. This study examined oscillatory brain activity during a musical affective priming paradigm. Participants with WS and age-matched typically developing controls heard brief emotional musical excerpts or emotionally neutral sounds, and then reported the emotional valence (happy/sad) of subsequently presented faces. Participants with WS demonstrated greater evoked fronto-central alpha activity to the happy versus sad musical excerpts. The size of these alpha effects correlated with parent-reported emotional reactivity to music. While participant groups did not differ in accuracy of identifying facial emotions, reaction time data revealed a music priming effect only in persons with WS, who responded faster when the face matched the emotional valence of the preceding musical excerpt versus when the valence differed. Matching emotional valence was also associated with greater evoked gamma activity thought to reflect cross-modal integration. This effect was not present in controls. The results suggest a specific connection between music and socio-emotional processing and have implications for clinical and educational approaches for WS.

Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside... more

Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills in social domains, face processing, language, and music. We report the results of a comprehensive survey on musical behaviors and background administered to the largest sample of individuals with WS to date (n ¼ 118, mean age ¼ 20.4), and compare the results to those obtained from a control group of typically developing normal individuals (n ¼ 118, mean age ¼ 20.9) and two groups of individuals with other neurodevelopmental genetic disorders, Autism (n ¼ 30, mean age ¼ 18.2) and Down Syndrome (n ¼ 40, mean age ¼ 17.2). Individuals with WS were found to be rated higher in musical accomplishment, engagement, and interest than either of the comparison groups, and equivalent on most measures to the control group. Compared to all other groups including the controls, the WS individuals displayed greater emotional responses to music, manifested interest in music at an earlier age, and spent more hours per week listening to music. In addition, the effects of music listening (whether positive or negative) tended to last longer in the WS group. A factor analysis extracted seven principal components that characterize the musical phenotype in our sample, and discriminant function analysis of those factors was able to successfully predict group membership for the majority of cases. We discuss the neurobiological implications of these findings.

The relationship between age and IQ was evaluated in a cross-sectional sample of 80 individuals with Williams syndrome (17 to 52 years). The relationship between age and WAIS-R subtest scores was such that increases and decreases in raw... more

The relationship between age and IQ was evaluated in a cross-sectional sample of 80 individuals with Williams syndrome (17 to 52 years). The relationship between age and WAIS-R subtest scores was such that increases and decreases in raw scores occurred at a rate sufficient to maintain stability of age-corrected scaled scores, indicating a develop- mental trajectory similar to that of

Gestures have a central role in speaking and thinking about spatial informa- tion. The goal of the present study is to examine the function of gestures in Williams Syndrome (WS), a genetic disorder characterized by spatial impair- ments... more

Gestures have a central role in speaking and thinking about spatial informa- tion. The goal of the present study is to examine the function of gestures in Williams Syndrome (WS), a genetic disorder characterized by spatial impair- ments and a preservation of communication. The study’s subjects were 11 WS individuals and 22 typically-developing controls who performed a narrative task. We analyzed offline gesture production and its relation with language and spatial information. Compared to the control groups, WS individuals produced more representational gestures that anticipated, supplemented, or gesture-only communication. Gestures produced by WS participants serve a compensatory role particularly in representing spatial contents.

Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical... more

Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. Methods: In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Results: Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. Conclusions: These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.

Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multi-system involvement and variable expressivity. Typical features of WBS microdeletion comprise a... more

Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multi-system involvement and variable expressivity. Typical features of WBS microdeletion comprise a recognizable pattern of facial dysmorphisms, supravalvular aortic stenosis, connective tissue abnormalities, hypercalcemia, and a distinctive neurobehavioral phenotype. Conversely, the phenotype of patients carrying the 7q11.23 reciprocal duplications includes less distinctive facial dysmorphisms and prominent speech delay. The common deletion/duplication ranges in size from 1.5 to 1.8 Mb and encompasses approximately 28 genes. This region is Xanked by low copy repeats (LCRs) with greater than »97% identity, which can mediate non-allelic homologous recombination resulting from misalignment of LCRs during meiosis. A clear genotypephenotype correlation has been established in WBS only for the elastin gene, which is responsible for the vascular and connective tissue abnormalities. The molecular substrates underlying the other clinical features of 7q11.23

Resumen El Síndrome de Williams (SW) es un trastorno genético del neurodesarrollo poco común, que se caracteriza por un perfil neuropsicológico definido por la presencia de mejores habilidades verbales que visoespaciales. El objetivo de... more

Resumen El Síndrome de Williams (SW) es un trastorno genético del neurodesarrollo poco común, que se caracteriza por un perfil neuropsicológico definido por la presencia de mejores habilidades verbales que visoespaciales. El objetivo de este trabajo fue aplicar una intervención neuropsicológica para mejorar los procesos atencionales, visoespaciales y de memoria en una paciente con SW. La intervención se llevó a cabo durante 10 meses con sesiones semanales de una hora. El diseño del estudio fue evaluación-intervención-evaluación. Los resultados de la segunda evaluación fueron comparados con una muestra clínica. Con el fin de identificar cambios clínicos significativos antes y después de la intervención se utilizó el índice de cambio confiable. Se encontró que los procesos de atención sostenida, control inhibitorio, abstracción, memoria de trabajo, habilidades visoespaciales y memoria presentaron una mejoría clínica significativa a partir de la intervención realizada. Estos resultados dan evidencia de la importancia de la intervención neuropsicológica en pacientes con SW para mejorar el funcionamiento cognitivo y su calidad de vida.

The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmen tal... more

The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmen tal disorder, a specific neuropsychological profile, and abnormal brain organization. We report on a dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age-and IQ-matched Down syndrome adolescents. The Williams syndrome individuals exhibit an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax. Differences in spatial cognitive abilities in the 2 groups are investigated, showing peaks and valleys of abilities specific to Williams syndrome individuals. These neurobehavioral profiles are explored in light of new evidence regarding neurologic and neuroana tomical differences between the 2 matched groups of adolescents. Results from these combined studies should help clarify the neural systems that mediate language and cognitive functions.

Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different... more

Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning.

Williams syndrome (WS), a genetic neurodevelopmental disorder due to microdeletion in chromosome 7, has been described as a syndrome with an intriguing socio-cognitive phenotype. Cognitively, the relative preservation of language and face... more

Williams syndrome (WS), a genetic neurodevelopmental disorder due to microdeletion in chromosome 7, has been described as a syndrome with an intriguing socio-cognitive phenotype. Cognitively, the relative preservation of language and face processing abilities coexists with severe deficits in visual-spatial tasks, as well as in tasks involving abstract reasoning. However, in spite of early claims of the independence of language

In this article, I investigate the ways in which methodological exchange between the fields of medical ethnomusicology and music therapy (MT) creates an interdisciplinary two-way street which, on the one hand enhances therapeutic practice... more

In this article, I investigate the ways in which methodological exchange between the fields of medical ethnomusicology and music therapy (MT) creates an interdisciplinary two-way street which, on the one hand enhances therapeutic practice by adopting an ethnographic and cultural understanding of disability, and on the other enriches ethnomusicological studies by ethnographically utilizing music therapy techniques. In support of this viewpoint, I offer ethnographic accounts of my time conducting research on music and Williams Syndrome and working alongside music therapists at the Whispering Trails summer camp for children with Williams Syndrome (WS) in Grand Rapids, Michigan. Ultimately, I argue that synergistic collaboration between the fields of medical ethnomusicology and music therapy will not only augment scholarship in these areas, but will also allow ethnomusicologists and music therapists to address issues of social justice and to promote accommodation and acceptance for disability within society.

The aim of this study was to investigate the functionality of cochlear active mechanisms in normal-hearing subjects affected by Williams syndrome (WS). Transient evoked otoacoustic emissions (TEOAEs) were recorded in a group of young WS... more

The aim of this study was to investigate the functionality of cochlear active mechanisms in normal-hearing subjects affected by Williams syndrome (WS). Transient evoked otoacoustic emissions (TEOAEs) were recorded in a group of young WS subjects and a group of typically developing control subjects, all having normal-hearing thresholds and normal middle-ear functionality. We also analysed the narrow-band frequency components of TEOAEs, extracted from the broad-band TEOAE recordings by using a time-frequency analysis algorithm based on the Wavelet transform. We observed that TEOAEs and the frequency components extracted from TEOAEs measured in WS subjects had significantly lower energy compared to the controls. Also, the narrow-band frequency components of TEOAEs measured in WS subjects had slightly increased latency compared to the controls. Overall, results would suggest a subtle (i.e., sub-clinical) dysfunction of the cochlear active mechanisms in WS subjects with otherwise normal hearing. Also, results point out the relevance of using otoacoustic emissions in the audiological evaluation and monitoring of WS subjects to early identify possible subtle auditory dysfunctions, before the onset of mild or moderate hearing loss that could exacerbate language or cognitive impairments associated with WS.

Individuals with autism spectrum disorders (ASD) are impaired in understanding the emotional undertones of speech, many of which are communicated through prosody. Musical performance also employs a form of prosody to communicate emotion,... more

Individuals with autism spectrum disorders (ASD) are impaired in understanding the emotional undertones of speech, many of which are communicated through prosody. Musical performance also employs a form of prosody to communicate emotion, and the goal of this study was to examine the ability of adolescents with ASD to understand musical emotion. We designed an experiment in which each musical stimulus served as its own control while we varied the emotional expressivity by manipulating timing and amplitude variation. We asked children and adolescents with ASD and matched controls as well as individuals with Williams syndrome (WS) to rate how emotional these excerpts sounded. Results show that children and adolescents with ASD are impaired relative to matched controls and individuals with WS at judging the difference in emotionality among the expressivity levels. Implications for theories of emotion in autism are discussed in light of these findings.

The Syndroling Project” (TSP) is attempting to establish linguistic profiles of typical development at the phonological, morphosyntactic, and pragmatic levels from a corpus of 60 typically developing children. Typical development profiles... more

The Syndroling Project” (TSP) is attempting to establish linguistic profiles of typical development at the phonological, morphosyntactic, and pragmatic levels from a corpus of 60 typically developing children. Typical development profiles are then compared with the profiles obtained from corpora of three neurodevelopmental syndromes: Down syndrome, Williams syndrome, and Fragile X syndrome. The Syndroling Project is the first attempt to compare Spanish-speaking subjects with DS, WS, and FXS with typically developing subjects at all levels of linguistic analysis, and based on conversational corpora.

In this thesis, I explore musical experiences of people with Williams Syndrome (WS) to examine how music not only shapes personal identity and worldview, but can also serve as a path to citizenship for these individuals. WS has... more

In this thesis, I explore musical experiences of people with Williams Syndrome (WS) to examine how music not only shapes personal identity and worldview, but can also serve as a path to citizenship for these individuals. WS has historically been examined within a deficit-centric and medicalized model of disability by the scientific and medical community; researchers have characterized WS as a congenital developmental disorder that is manifested in cardiovascular disease, low IQ, unique facial features, hypersociability, and in some cases, high degrees of musical aptitude. In contrast to this medical paradigm that tends to stress disability and disorder, I approach the study of WS musically and ethnographically with an emphasis on the abilities, creativity, and agency of these individuals. I examine my time at the Williams Syndrome Association-sponsored summer camps for children, teenagers, and young adults at the Whispering Trails Camp in Grand Rapids, Michigan. During this three-week period I immersed myself in the camp community and engaged in musical ethnography through participant-observation and interviews with campers, parents, and staff members. In this thesis I will demonstrate the ways in which the musical experiences of the campers transform notions of WS from a dis-ability into a difference of ability, or diffability. Though society has often viewed individuals with WS as being dis-abled, the personal narratives presented in this thesis, along with my own experiences of shared musicking, will serve to illuminate the disconnect between how our culture constructs and imputes notions of disability to individuals with WS and the ways these people conceptualize their own identities. A central concern of this work is to ensure the presence of my interlocutors’ voices and to allow them to articulate their feelings about what it means to be an individual with WS, especially with regard to how music and musical experiences impact and affect their worldviews.

To teach and to motivate to the primary caregiver of children with diagnosis of Syndrome of Williams, to know its body and to take care of it was our main objective, since they suffer from tools to confront the wearing down and stress.... more

To teach and to motivate to the primary caregiver of children with diagnosis of Syndrome of Williams, to know its body and to take care of it was our main objective, since they suffer from tools to confront the wearing down and stress. Our boarding sustained in the investigation-action undertaken by groups or communities with the intention of changing its situation of life.

Williams-Beuren Syndrome (WBS) individuals have a unique constellation of strengths and weaknesses aligned to Howard Gardner’s Intelligences, with accompanying biological phenomena that serve as a precursor for each. Individuals with... more

Williams-Beuren Syndrome (WBS) individuals have a unique constellation of strengths and weaknesses aligned to Howard Gardner’s Intelligences, with accompanying biological phenomena that serve as a precursor for each. Individuals with Williams Syndrome may be subject to very different principles of neural organization than the normal brain. Despite substantial impairments in many cognitive domains, individuals with Williams syndrome appear to possess unusual strength in language and music abilities. Individuals with WBS have smaller than average overall brain mass, but critical locations where sounds are processed remain fully-formed and are relied on to connect and synthesize information from other senses. This biologically based prevalence for pushing experience through less interconnected, more comfortable, and relatively oversized structures that do not include the more recently evolved (and central to executive function) frontal lobe is the figurative, cognitive version of comfort establishing primacy over higher-order thinking. School communities that engage WBS persons should focus on engaging the executive function (EF) of these students as means to supersede comfort for the sake of strategy. This paper recommends educators use the Talents Unlimited instructional model to drive Carol Ann Tomlinson’s emphasis on a classroom environment that is responsive to WBS student needs.

The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes... more

The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans.

This study was aimed at evaluating spatial function in subjects with Williams syndrome by using the radial arm maze task and comparing their spatial abilities with those of mental age-matched control subjects. Two different paradigms were... more

This study was aimed at evaluating spatial function in subjects with Williams syndrome by using the radial arm maze task and comparing their spatial abilities with those of mental age-matched control subjects. Two different paradigms were administered: the free-choice version for analyzing the aspects linked mainly to procedural and mnesic components, the forced-choice version for disentangling components linked to spatial working memory from the procedural ones. The findings evidenced a deficit in the acquisition of procedural competences as well as in the spatial memory processes in Williams subjects. In the free-choice paradigm, they performed worse than control subjects on all parameters analyzed. Namely, they needed more time to complete the task, did not collect all rewards, exhibited low values of the spatial span as well as low percentages of correct visits, and displayed a reduced use of the most efficient exploration strategies. Even in the forced-choice paradigm, Williams...

A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high... more

A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

Introduction. Based on clinical and genetic knowledge about certain syndromes, in recent decades the concept of behavioural phenotypes has been developed in an attempt to deal with the complex relations between genes and behaviour. The... more

Introduction. Based on clinical and genetic knowledge about certain syndromes, in recent decades the concept of behavioural phenotypes has been developed in an attempt to deal with the complex relations between genes and behaviour. The model is not linear but rather each type of behaviour is determined by the interaction of different genes and modulated by environmental factors. Development and conclusions. The aim of this review is to provide a global view concerning the concept of 'behavioural phenotypes' based on the description of the molecular mechanisms and clinical observations of some syndromes. There is clearly a need for geneticists, who work in a laboratory, and clinicians, who can offer qualitative and quantitative data about behaviour in certain genetic syndromes, to work in collaboration. For this reason this study describes the clinical instruments that make it possible to evaluate the core aspects of behaviour and hence undertake their scientific study in situations in which their genetic dysfunction is already known.

revealed problems decreased with age among individuals with autism. However, as people with WS aged, they had greater difficulty with Social Relating. Distinct age and IQ correlates of adaptive behavior among groups were also found. These... more

revealed problems decreased with age among individuals with autism. However, as people with WS aged, they had greater difficulty with Social Relating. Distinct age and IQ correlates of adaptive behavior among groups were also found. These findings both confirm and refine the behavioral phenotypes of these developmental disorders.

Vulnerable young people such as those with Autism Spectrum Disorders, intellectual disabilities, or social, behavioural and emotional difficulties – often lack the skills to make the right decisions when faced with potentially dangerous... more

Vulnerable young people such as those with Autism Spectrum Disorders, intellectual disabilities, or social, behavioural and emotional difficulties – often lack the skills to make the right decisions when faced with potentially dangerous scenarios. This fun and interactive game helps to open up discussion and teach young people the social skills they need to stay safe in school and in the wider community.
The Choices Game has been specially designed to help older children and teenagers learn how to make positive choices. As players move around the game board, they pick up Choice Cards which invite them to imagine themselves in a scenario and make a choice about how they would respond in that situation. The outcome of their decision is then revealed, and the more safe choices they make the further they progress in the game!
This game will be an invaluable tool for teachers, parents, social workers and anyone else teaching social skills and personal safety to young people with special needs or emotional difficulties. It includes a helpful teacher's guide with advice to aid learning through discussion.

Results: 55 children were assessed at age 5−17 years (mean: 10±3.7), 27 boys and 28 girls. Sleep occurred in 51 (92.7%) after sleep deprivation and in only 1 (1.8%) during an awake record. Epileptic discharges were detected in 15 of 55... more

Results: 55 children were assessed at age 5−17 years (mean: 10±3.7), 27 boys and 28 girls. Sleep occurred in 51 (92.7%) after sleep deprivation and in only 1 (1.8%) during an awake record. Epileptic discharges were detected in 15 of 55 (27.2%) previous non-epileptic awake records during the sleep deprived EEG either during wakefulness and more frequent during sleep. 8 abnormal records were detected in 18 (44%) children presenting with a focal seizure and 7 of 35 (20%) associated with generalized seizures. Epileptic discharges were recorded mainly during sleep. Conclusion: Our data suggests that sleep deprivation imposes an apparent activating impact uncovering epileptic discharges in children with overt clinical seizures beyond the sampling effect of repeat records.