Musical Beat Perception Skills of Autistic and Neurotypical Children.

Many autistic children show musical interests and good musical skills including pitch and melodic memory. Autistic children may also perceive temporal regularities in music such as the primary beat underlying the rhythmic structure of music given some work showing preserved rhythm processing in the context of basic, nonverbal auditory stimuli. The temporal regularity and prediction of musical beats can potentially serve as an excellent framework for building skills in non-musical areas of growth for autistic children. We examine if autistic children are perceptually sensitive to the primary beat of music by comparing the musical beat perception skills of autistic and neurotypical children. Twenty-three autistic children and 23 neurotypical children aged 6-13 years with no group differences in chronological age and verbal and nonverbal mental ages completed a musical beat perception task where they identified whether beeps superimposed on musical excerpts were on or off the musical beat. Overall task performance was above the theoretical chance threshold of 50% but not the statistical chance threshold of 70% across groups. On-beat (versus off-beat) accuracy was higher for the autistic group but not the neurotypical group. The autistic group was just as accurate at detecting beat alignments (on-beat) but less precise at detecting beat misalignments (off-beat) compared to the neurotypical group. Perceptual sensitivity to beat alignments provides support for spared music processing among autistic children and informs on the accessibility of using musical beats and rhythm for cultivating related skills and behaviours (e.g., language and motor abilities).

The Contribution of Perceptual Reasoning Skills to Phonological Awareness for School Age Autistic Children.

This study aimed to investigate the phonological awareness (PA) skills of school age autistic children (age range = 6-12) in two parts: (1) comparing their performance on a PA task to non-autistic children with groups matched on chronological age, verbal and non-verbal cognitive skills, and (2) exploring the role of cognitive skills and autism characteristics on PA skills. Results revealed that the groups did not differ in their PA skills (study 1) and that perceptual reasoning skills are associated with the PA skills of autistic participants (study 2). Results highlight the role of non-verbal cognitive skills in literacy development for autistic children and suggest that their perceptual reasoning abilities likely contribute a great deal when learning to read.

Links between musical beat perception and phonological skills for autistic children.

Exploring non-linguistic predictors of phonological awareness, such as musical beat perception, is valuable for children who present with language difficulties and diverse support needs. Studies on the musical abilities of children on the autism spectrum show that they have average or above-average musical production and auditory processing abilities. This study aimed to explore the relationship between musical beat perception and phonological awareness skills of children on the autism spectrum with a wide range of cognitive abilities. A total of 21 autistic children between the ages of 6 to 11 years old (M = 8.9, SD = 1.5) with full scale IQs ranging from 52 to 105 (M = 74, SD = 16) completed a beat perception and a phonological awareness task. Results revealed that phonological awareness and beat perception are positively correlated for children on the autism spectrum. Findings lend support to the potential use of beat and rhythm perception as a screening tool for early literacy skills, specifically for phonological awareness, for children with diverse support needs as an alternative to traditional verbal tasks that tend to underestimate the potential of children on the autism spectrum.

Basic emotion recognition of children on the autism spectrum is enhanced in music and typical for faces and voices.

In contrast with findings of reduced facial and vocal emotional recognition (ER) accuracy, children on the autism spectrum (AS) demonstrate comparable ER skills to those of typically-developing (TD) children using music. To understand the specificity of purported ER differences, the goal of this study was to examine ER from music compared with faces and voices among children on the AS and TD children. Twenty-five children on the AS and 23 TD children (6-13 years) completed an ER task, using categorical (happy, sad, fear) and dimensional (valence, arousal) ratings, of emotions presented via music, faces, or voices. Compared to the TD group, the AS group showed a relative ER strength from music, and comparable performance from faces and voices. Although both groups demonstrated greater vocal ER accuracy, the children on the AS performed equally well with music and faces, whereas the TD children performed better with faces than with music. Both groups performed comparably with dimensional ratings, except for greater variability by the children on the AS in valence ratings for happy emotions. These findings highlight a need to re-examine ER of children on the AS, and to consider how facilitating strengths-based approaches can re-shape our thinking about and support for persons on the AS.

Early Reading Comprehension Intervention for Preschoolers with Autism Spectrum Disorder and Hyperlexia.

Children with autism spectrum disorder (ASD) and hyperlexia (HPL) have both advanced word reading skills and a reading comprehension disorder, alongside impaired oral language. We developed a unique, parent-supported, tablet-based intervention aiming to improve oral and reading comprehension at the word-, phrase- and sentence-level, for preschoolers with ASD and hyperlexia (ASD + HPL). English-speaking preschoolers (N = 30) with ASD + HPL (N = 8), ASD without HPL (N = 7) and typical development (N = 15) underwent a 6-week no-intervention period followed by a 6-week intervention period. Findings revealed a significant increase in reading comprehension scores for the group with ASD + HPL as compared to the TD group (p = .023). Gains were also found for receptive but not expressive language for all groups. Implications for early intervention for preschoolers with ASD + HPL are discussed.

Early Word Reading of Preschoolers with ASD, Both With and Without Hyperlexia, Compared to Typically Developing Preschoolers.

A portion of children with Autism Spectrum Disorder (ASD) exhibit a strength in early word reading referred to as hyperlexia (HPL), yet it remains unclear what mechanisms underlie this strength. Typically developing children (TD) acquire phonological awareness, alphabet knowledge and language skills as precursors to word reading. We compared these skills across English-speaking preschoolers with ASD, both with and without hyperlexia, and TD preschoolers. Findings indicated that the group with both ASD and HPL (ASD + HPL) exhibited advanced word reading and letter naming skills as compared to the other two groups, but did not demonstrate commensurate phonological awareness, letter-sound correspondence, or language skills. Findings support an alternative, non-phonological approach to early word reading in preschoolers with ASD and hyperlexia.

Music-Evoked Reward and Emotion: Relative Strengths and Response to Intervention of People With ASD.

This review presents research findings showing that music is a unique domain to assess perception, reward, emotion, and associated physiological reactions and neural circuitry of people with autism spectrum disorder (ASD). There is growing evidence, reported in several studies in this review article, indicating that music is a relative strength of people with ASD including musical pitch perception, musical memory, and identification of music-evoked emotions. Listening to music activates neural circuits of reward and emotion response, which are described. Research presented shows adults with ASD also activate these systems when listening to music, although there may be developmental differences in the physiological and neural response to music in childhood and adolescence alongside typical behavioral response. Nonetheless, studies reviewed lend support to the use of music therapy and education for people with ASD, specifically to improve social skills and communication. Neural correlates of response to music therapy and education are also discussed. Taken together, findings reviewed provide evidence for music as a strength-based approach for ASD to assess reward and emotion response and as a powerful tool for intervention.

Cortisol relates to regional limbic system structure in older but not younger adults.

We investigated if the relationship between age and regional limbic system brain structure would be moderated by diurnal cortisol output and diurnal cortisol slope. Participants aged 23-83 years collected seven salivary cortisol samples each day for 10 consecutive days and underwent magnetic resonance imaging. Age, sex, cortisol, and an age x cortisol interaction were tested as predictors of hippocampal and amygdalar volume and caudal and rostral anterior cingulate cortex (ACC) thickness. We found significant interactions between age and cortisol on left and right amygdalar volumes and right caudal ACC thickness. Older adults with higher cortisol output had smaller left and right amygdalar volumes than older adults with lower cortisol output and younger adults with higher cortisol output. Older and younger adults with lower cortisol output had similar amygdalar volumes. Older adults with a steeper decline in diurnal cortisol had a thicker right caudal ACC than younger adults with a similarly shaped cortisol slope. Hippocampal volume was not related to either cortisol slope or output, nor was pallidum volume which was assessed as an extra-limbic control region. Results suggest that subtle differences in cortisol output are related to differences in limbic system structure in older but not younger adults.

The Influence of Hyperactivity, Impulsivity, and Attention Problems on Social Functioning in Adolescents and Young Adults With Fragile X Syndrome.

OBJECTIVE: Individuals with fragile X syndrome (FXS) present primarily with cognitive and social deficits in addition to symptoms of ADHD. The relationship between symptoms of ADHD, cognitive functioning, and social skills has never been explicitly studied. METHOD: Here, we analyzed both longitudinal ( n = 70; Time 1: ages 6-18; Time 2: ages 15-26) and cross-sectional ( n = 73; Time 2 only) data using hierarchical linear regression to assess how global intellectual functioning (IQ) and symptoms of ADHD influence social functioning in individuals with FXS. RESULTS: We found that ADHD symptoms at Times 1 and 2 consistently predict social functioning in both males and females with FXS at Time 2. CONCLUSION: Our results suggest that addressing ADHD symptoms in childhood may have positive, long-term effects on the social functioning of adolescents and young adults with FXS.

Neuroanatomical abnormalities in fragile X syndrome during the adolescent and young adult years.

Abnormal brain development and cognitive dysfunction have been reported both in children and in adults with fragile X syndrome (FXS). However, few studies have examined neuroanatomical abnormalities in FXS during adolescence. In this study we focus on adolescent subjects with FXS (N = 54) as compared to age- and sex-matched subjects with idiopathic intellectual disability (Comparison Group) (N = 32), to examine neuroanatomical differences during this developmental period. Brain structure was assessed with voxel-based morphometry and independent groups t-test in SPM8 software. Results showed that the FXS group, relative to the comparison group, had significantly larger gray matter volume (GMV) in only one region: the bilateral caudate nucleus, but have smaller GMV in several regions including bilateral medial frontal, pregenual cingulate, gyrus rectus, insula, and superior temporal gyrus. Group differences also were noted in white matter regions. Within the FXS group, lower FMRP levels were associated with less GMV in several regions including cerebellum and gyrus rectus, and less white matter volume (WMV) in pregenual cingulate, middle frontal gyrus, and other regions. Lower full scale IQ within the FXS group was associated with larger right caudate nucleus GMV. In conclusion, adolescents and young adults with FXS demonstrate neuroanatomical abnormalities consistent with those previously reported in children and adults with FXS. These brain variations likely result from reduced FMRP during early neurodevelopment and mediate downstream deleterious effects on cognitive function.

Changes in Brain Activation Associated with Spontaneous Improvization and Figural Creativity After Design-Thinking-Based Training: A Longitudinal fMRI Study.

Creativity is widely recognized as an essential skill for entrepreneurial success and adaptation to daily-life demands. However, we know little about the neural changes associated with creative capacity enhancement. For the first time, using a prospective, randomized control design, we examined longitudinal changes in brain activity associated with participating in a five-week design-thinking-based Creative Capacity Building Program (CCBP), when compared with Language Capacity Building Program (LCBP). Creativity, an elusive and multifaceted construct, is loosely defined as an ability to produce useful/appropriate and novel outcomes. Here, we focus on one of the facets of creative thinking-spontaneous improvization. Participants were assessed pre- and post-intervention for spontaneous improvization skills using a game-like figural Pictionary-based fMRI task. Whole-brain group-by-time interaction revealed reduced task-related activity in CCBP participants (compared with LCBP participants) after training in the right dorsolateral prefrontal cortex, anterior/paracingulate gyrus, supplementary motor area, and parietal regions. Further, greater cerebellar-cerebral connectivity was observed in CCBP participants at post-intervention when compared with LCBP participants. In sum, our results suggest that improvization-based creative capacity enhancement is associated with reduced engagement of executive functioning regions and increased involvement of spontaneous implicit processing.

Altered Brain Network Segregation in Fragile X Syndrome Revealed by Structural Connectomics.

Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, is associated with significant behavioral, social, and neurocognitive deficits. Understanding structural brain network topology in FXS provides an important link between neurobiological and behavioral/cognitive symptoms of this disorder. We investigated the connectome via whole-brain structural networks created from group-level morphological correlations. Participants included 100 individuals: 50 with FXS and 50 with typical development, age 11-23 years. Results indicated alterations in topological properties of structural brain networks in individuals with FXS. Significantly reduced small-world index indicates a shift in the balance between network segregation and integration and significantly reduced clustering coefficient suggests that reduced local segregation shifted this balance. Caudate and amygdala were less interactive in the FXS network further highlighting the importance of subcortical region alterations in the neurobiological signature of FXS. Modularity analysis indicates that FXS and typically developing groups' networks decompose into different sets of interconnected sub networks, potentially indicative of aberrant local interconnectivity in individuals with FXS. These findings advance our understanding of the effects of fragile X mental retardation protein on large-scale brain networks and could be used to develop a connectome-level biological signature for FXS.

The Role of Executive Function in Independent Living Skills in Female Adolescents and Young Adults With Fragile X Syndrome.

Fragile X syndrome (FXS) is associated with executive function (EF) and independent living skills (ILS) deficits. We examined the role of childhood EF in ILS during adolescence/early adulthood in females with FXS and two comparison groups in the same age range (matched for IQ [IQ/Age group] and with another genetic condition, Turner syndrome [TS group]). EF and ILS were significantly higher for the FXS group than the IQ/Age group but did not differ from the TS group. For the FXS group, age and EF were significant predictors of ILS during adolescence/early adulthood, but there were no statistically significant longitudinal associations between EF and ILS. Our findings suggest that impairments in EF may have a significant effect on ILS in FXS.

The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence.

Few studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial-constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research.

Estimating individual contribution from group-based structural correlation networks.

Coordinated variations in brain morphology (e.g., cortical thickness) across individuals have been widely used to infer large-scale population brain networks. These structural correlation networks (SCNs) have been shown to reflect synchronized maturational changes in connected brain regions. Further, evidence suggests that SCNs, to some extent, reflect both anatomical and functional connectivity and hence provide a complementary measure of brain connectivity in addition to diffusion weighted networks and resting-state functional networks. Although widely used to study between-group differences in network properties, SCNs are inferred only at the group-level using brain morphology data from a set of participants, thereby not providing any knowledge regarding how the observed differences in SCNs are associated with individual behavioral, cognitive and disorder states. In the present study, we introduce two novel distance-based approaches to extract information regarding individual differences from the group-level SCNs. We applied the proposed approaches to a moderately large dataset (n=100) consisting of individuals with fragile X syndrome (FXS; n=50) and age-matched typically developing individuals (TD; n=50). We tested the stability of proposed approaches using permutation analysis. Lastly, to test the efficacy of our method, individual contributions extracted from the group-level SCNs were examined for associations with intelligence scores and genetic data. The extracted individual contributions were stable and were significantly related to both genetic and intelligence estimates, in both typically developing individuals and participants with FXS. We anticipate that the approaches developed in this work could be used as a putative biomarker for altered connectivity in individuals with neurodevelopmental disorders.

Pictionary-based fMRI paradigm to study the neural correlates of spontaneous improvisation and figural creativity.

A novel game-like and creativity-conducive fMRI paradigm is developed to assess the neural correlates of spontaneous improvisation and figural creativity in healthy adults. Participants were engaged in the word-guessing game of Pictionary(TM), using an MR-safe drawing tablet and no explicit instructions to be "creative". Using the primary contrast of drawing a given word versus drawing a control word (zigzag), we observed increased engagement of cerebellum, thalamus, left parietal cortex, right superior frontal, left prefrontal and paracingulate/cingulate regions, such that activation in the cingulate and left prefrontal cortices negatively influenced task performance. Further, using parametric fMRI analysis, increasing subjective difficulty ratings for drawing the word engaged higher activations in the left pre-frontal cortices, whereas higher expert-rated creative content in the drawings was associated with increased engagement of bilateral cerebellum. Altogether, our data suggest that cerebral-cerebellar interaction underlying implicit processing of mental representations has a facilitative effect on spontaneous improvisation and figural creativity.

Specific effect of the fragile-X mental retardation-1 gene (FMR1) on white matter microstructure.

BACKGROUND: Fragile-X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability and neurobiological abnormalities including white matter microstructural differences. White matter differences have been found relative to neurotypical individuals. AIMS: To examine whether FXS white matter differences are related specifically to FXS or more generally to the presence of intellectual disability. METHOD: We used voxel-based and tract-based analytic approaches to compare individuals with FXS (n = 40) with gender- and IQ-matched controls (n = 30). RESULTS: Individuals with FXS had increased fractional anisotropy and decreased radial diffusivity values compared with IQ-matched controls in the inferior longitudinal, inferior fronto-occipital and uncinate fasciculi. CONCLUSIONS: The genetic variation associated with FXS affects white matter microstructure independently of overall IQ. White matter differences, found in FXS relative to IQ-matched controls, are distinct from reported differences relative to neurotypical controls. This underscores the need to consider cognitive ability differences when investigating white matter microstructure in neurodevelopmental disorders.

The relationship between autistic symptomatology and independent living skills in adolescents and young adults with fragile X syndrome.

Few studies have examined the relationship between autistic symptomatology and competence in independent living skills in adolescents and young adults with fragile X syndrome (FXS). In this study, 70 individuals with FXS, aged 15-25 years, and 35 matched controls were administered direct measures of independent living skills and autistic symptomatology. Results showed that higher levels of autistic symptomatology were associated with lower levels of competence in independent living skills in individuals with FXS, but not in controls. These data indicated that the relationship between autistic symptomatology and independent living skills was syndrome-specific. Early intervention strategies that address autistic symptomatology are sorely needed to improve functional outcomes in this population.