Under noisy listening conditions, visualizing a speaker's articulations substantially improves speech intelligibility. This multisensory speech integration ability is crucial to effective communication, and the appropriate development of this capacity greatly impacts a child's ability to successfully navigate educational and social settings. Research shows that multisensory integration abilities continue developing late into childhood. The primary aim here was to track the development of these abilities in children with autism, since multisensory deficits are increasingly recognized as a component of the autism spectrum disorder (ASD) phenotype. The abilities of high-functioning ASD children (n = 84) to integrate seen and heard speech were assessed cross-sectionally, while environmental noise levels were systematically manipulated, comparing them with age-matched neurotypical children (n = 142). Severe integration deficits were uncovered in ASD, which were increasingly pronounced as background noise increased. These deficits were evident in school-aged ASD children (5-12 year olds), but were fully ameliorated in ASD children entering adolescence (13-15 year olds). The severity of multisensory deficits uncovered has important implications for educators and clinicians working in ASD. We consider the observation that the multisensory speech system recovers substantially in adolescence as an indication that it is likely amenable to intervention during earlier childhood, with potentially profound implications for the development of social communication abilities in ASD children.

Introduction:Although dementia prevalence differs by race, it remains unclear whether cognition and neuropsychiatric symptom severity differ between Black and White individuals with dementia. Methods:Using National Alzheimer's Coordinating Center (NACC) data, we evaluated dementia prevalence in non-Hispanic Black and White participants and compared their clinicodemographic characteristics. We examined race differences in cognition, neuropsychiatric symptoms, and functional abilities in participants with dementia using multivariable linear and logistic regression models. Results:We included 5,700 Black and 31,225 White participants across 39 Alzheimer's Disease Research Centers. Of these, 1,528 (27%) Black and 11,267 (36%) White participants had dementia diagnoses. Despite having lower dementia prevalence, risk factors were more prevalent among Black participants. Black participants with dementia showed greater cognitive deficits, neuropsychiatric symptoms/severity, and functional dependence.Discussion: Despite lower dementia prevalence, Black participants with dementia had more dementia risk factors, as well as greater cognitive impairment and neuropsychiatric symptom severity than White participants.

Background: Previous work has revealed sizeable deficits in the abilities of children with an autism spectrum disorder (ASD) to integrate auditory and visual speech signals, with clear implications for social communication in this population. There is a strong male preponderance in ASD, with approximately four affected males for every female. The presence of sex differences in ASD symptoms suggests a sexual dimorphism in the ASD phenotype, and raises the question of whether this dimorphism extends to ASD traits in the neurotypical population. Here, we investigated possible sexual dimorphism in multisensory speech integration in both ASD and neurotypical individuals.Methods: We assessed whether males and females differed in their ability to benefit from visual speech when target words were presented under varying levels of signal-to-noise, in samples of neurotypical children and adults, and in children diagnosed with an ASD.Results: In typically developing (TD) children and children with ASD, females (n = 47 and n = 15, respectively) were significantly superior in their ability to recognize words under audiovisual listening conditions compared to males (n = 55 and n = 58, respectively). This sex difference was absent in our sample of neurotypical adults (n = 28 females; n = 28 males).Conclusions: We propose that the development of audiovisual integration is delayed in male relative to female children, a delay that is also observed in ASD. In neurotypicals, these sex differences disappear in early adulthood when females approach their performance maximum and males “catch up.” Our findings underline the importance of considering sex differences in the search for autism endophenotypes and strongly encourage increased efforts to study the underrepresented population of females within ASD.

Several structural brain abnormalities have been associated with aggression in patients with schizophrenia. However, little is known about shared and distinct abnormalities underlying aggression in these subjects and non-psychotic violent individuals. We applied a region-of-interest volumetric analysis of the amygdala, hippocampus, and thalamus bilaterally, as well as whole brain and ventricular volumes to investigate violent (n = 37) and non-violent chronic patients (n = 26) with schizophrenia, non-psychotic violent (n = 24) as well as healthy control subjects (n = 24). Shared and distinct volumetric abnormalities were probed by analysis of variance with the factors violence (non-violent versus violent) and diagnosis (non-psychotic versus psychotic), adjusted for substance abuse, age, academic achievement and negative psychotic symptoms. Patients showed elevated vCSF volume, smaller left hippocampus and smaller left thalamus volumes. This was particularly the case for non-violent individuals diagnosed with schizophrenia. Furthermore, patients had reduction in right thalamus size. With regard to left amygdala, we found an interaction between violence and diagnosis. More specifically, we report a double dissociation with smaller amygdala size linked to violence in non-psychotic individuals, while for psychotic patients smaller size was linked to non-violence. Importantly, the double dissociation appeared to be mostly driven by substance abuse. Overall, we found widespread morphometric abnormalities in subcortical regions in schizophrenia. No evidence for shared volumetric abnormalities in individuals with a history of violence was found. Finally, left amygdala abnormalities in non-psychotic violent individuals were largely accounted for by substance abuse. This might be an indication that the association between amygdala reduction and violence is mediated by substance abuse. Our results indicate the importance of structural abnormalities in aggressive individuals.

A 19-year-old man with cortical dysplasia and intractable focal seizures underwent a right temporal lobectomy. A hypothalamic hamartoma was subsequently recognized, and he then underwent MRI-guided stereotactic laser ablation. Unfortunately, he sustained damage to the bilateral medial mammillary bodies and suffered significant memory loss. We review laser ablation therapy for hypothalamic hamartomas and the anatomy of the memory network. We postulate that his persistent memory disorder resulted from a combination of the right temporal lobectomy and injury to the bilateral medial mammillary bodies.

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Copy number variants (CNVs) at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2) are associated with language-related difficulties and increased risk for developmental disorders in which language is compromised. Towards underlying mechanisms, we investigated relationships between single nucleotide polymorphisms (SNPs) across the region and quantitative measures of human brain structure obtained by magnetic resonance imaging of healthy subjects. We report an association between rs4778298, a common variant at CYFIP1, and inter-individual variation in surface area across the left supramarginal gyrus (lh.SMG), a cortical structure implicated in speech and language in independent discovery (n = 100) and validation cohorts (n = 2621). In silico analyses determined that this same variant, and others nearby, is also associated with differences in levels of CYFIP1 mRNA in human brain. One of these nearby polymorphisms is predicted to disrupt a consensus binding site for FOXP2, a transcription factor implicated in speech and language. Consistent with a model where FOXP2 regulates CYFIP1 levels and in turn influences lh.SMG surface area, analysis of publically available expression data identified a relationship between expression of FOXP2 and CYFIP1 mRNA in human brain. We propose that altered CYFIP1 dosage, through aberrant patterning of the lh.SMG, may contribute to language-related difficulties associated with BP1-2 CNVs. More generally, this approach may be useful in clarifying the contribution of individual genes at CNV risk loci.