Receptive Language Impairment Research Articles

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior. We performed a cross-sectional study. Children were recruited as part of the Myelin Disorders Biorepository Project at the Children's Hospital of Philadelphia. We included individuals with a confirmed diagnosis of AGS. We administered the Leiter International Performance Scale, third edition (Leiter-3), and the Vineland Adaptive Behavior Scale, third edition (VABS-3), in the context of research encounters. Motor skills were categorized by AGS Severity Scale mobility levels. Descriptive statistics and Spearman's rank correlation were used to compare assessments. Mann-Whitney and Kruskal-Wallis tests with correction with Dunn's multiple comparison test were used to compare test performance between mobility groups. Cognitive and adaptive behavior performance was captured in 57 children. The mean age at encounters was 8.51 (SD 5.15) years. The median (IQR) Leiter-3 score was 51 (interquartile range [IQR] 60), with administration failure in 20 of 57 (35%) individuals. On the VABS-3, the Motor Domain (median 29, IQR 36.25) was more impacted than the Communication (median 50, IQR 52), Daily Living Skills (median 52, IQR 31), and Socialization (median 54, IQR 40) Domains (p < 0.0001). The AGS Scale correlated with VABS-3 (r = 0.86, p < 0.0001) and Leiter-3 (r = 0.87, p < 0.0001). There was correlation between VABS-3 Domains and Leiter-3 (r-range 0.83-0.97). Gross motor and fine motor categories, respectively, correlated with VABS-3 (H = 39.37, p < 0.0001; U = 63, p < 0.0001) and Leiter-3 (H = 40.43, p < 0.0001; U = 66, p < 0.0001). Within each gross motor and fine motor category of the AGS Scale, a subset of children scored within normal IQ range. Parental assessment of function by the VABS-3 correlated with directly assessed performance measures. Our data underscore the potential value of VABS-3 and Leiter-3 as tools to assess psychometric function in AGS. With a deeper understanding of our patients' abilities, we can better guide clinicians and families to provide appropriate support and personalized interventions to empower children with leukodystrophies to maximize their communication and educational potential.

Teaching receptive vocabulary to two autistic children: A replicated, clinic-based, single case experimental design.

This study was conducted in a clinical setting with the aim of replicating previously used procedures for teaching receptive vocabulary. Researchers increased the number of vocabulary words and maintained use of match-to-sample (MtS), prompting, and reinforcement procedures. Researchers were also interested in the efficacy of the intervention from caregivers' perspectives. Using a concurrent multiple baseline design, two autistic preschoolers with receptive language impairment were taught to identify 30 common objects. MtS, prompting, and reinforcement procedures were individualized to support each child. Maintenance checks and generalization probes were completed after a predetermined number of intervention sessions (i.e. three or four clinic sessions). A social validity questionnaire was completed by parents following the final maintenance check. Receptive object identification improved significantly for both participants. Despite exposure to vocabulary targets for only three or four sessions, they generalized the vocabulary targets to non-identical pictures and maintained words at maintenance checks. Participants were most successful when researchers individualized prompting and reinforcement. MtS, prompting, and reinforcement were effective procedures for improving object identification, even with a limited number of intervention sessions. To support varying learner profiles, modifying prompting and reinforcement procedures was necessary. Caregivers of both participants reported positive improvements in areas such as communication, attention, and behaviors. This replicated study provides support for MtS, prompting, and reinforcement as means of teaching receptive vocabulary to autistic preschoolers in a clinical setting. The materials used were simple and cost-effective. Overall, this study outlines and supports a flexible and effective evidence-based practice to teach receptive language to autistic children.

AGR - 1 A Case Study of Cognitive Reserve and Wernicke's Aphasia Status-Post Insular Stroke.

The case is an 88-year-old, woman, formerly a successful surgeon for decades, with Wernicke's aphasia due to dominant insular stroke. Our evaluation explored her deficits in the context of the heterogeneous presentations of insular strokes and how speech rehabilitation has impacted her language abilities given her cognitive reserve prior to her stroke. The patient sustained a left MCA embolic stroke in 2020. Neurodiagnostics revealed an infarct in the insula, dominant temporal, frontal, and parietal lobes. Baseline language assessment was completed. Results included moderate-severe receptive language impairment; intact fluency; deficits in writing and repetition; and significant paraphasias. Neuropsychological assessment demonstrated prominent deficits in repetition with paraphasias and irritability. Auditory learning, attention, and working memory were invalid due to deficits in repetition. She was diagnosed with mild vascular neurocognitive disorder and conduction aphasia. Despite comprehension having improved, the patient's paraphasias resemble the presentation of Wernicke's aphasia. Interestingly, there were some consistencies in paraphasic errors, such as consistently swapping certain words or letters, demonstrating diminished but not absent volition of speech. Story memory was the most effective measure of auditory memory given repetition deficits. Despite repetition deficits commonly localizing to the supramarginal gyrus, her repetition difficulty is likely related to language network disruption due to her insular infarct. Rehabilitation for comprehension was successful despite age at time of injury. Consistent with previous research, results suggest despite cognitive reserve, repetition is resistant to rehabilitation; however, in this case, paraphasic errors were also resistant. Rehabilitation should include a behavioral component for insular stroke patients.

Teaching Receptive Vocabulary to Minimally Verbal Preschoolers With Autism Spectrum Disorder: A Single-Case Multiple Baseline Design.

The purpose of this multiple probe design was (a) to investigate whether the use of the match-to-sample (MtS) procedure would result in independent identification of objects and (b) to examine whether the participants could generalize to matching objects and nonidentical pictures. Using a nonconcurrent multiple baseline design, three minimally verbal preschoolers with autism spectrum disorder and receptive language impairment were taught to identify common objects using a MtS procedure and physical prompts. Participants were taught to match identical objects to identical pictures. Maintenance checks were completed following mastery of vocabulary for a total of 22 words. Generalization probes were conducted with the objects and nonidentical pictures. Intervention was completed by a speech-language pathologist during typical speech-language pathology sessions. Results illustrated that all of the participants learned to match and generalize the pictures. All were able to independently identify the objects at 1-month follow-up. MtS and prompting appear to be effective procedures for teaching receptive vocabulary and can be easily implemented by education professionals. Learner profiles varied for the participants in this study and are an important aspect when teaching students with autism spectrum disorder and co-occurring receptive language impairment.

Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review.

The purpose of this study was to investigate comorbidity prevalence and patterns in childhood apraxia of speech (CAS) and their relationship to severity. In this retroactive cross-sectional study, medical records for 375 children with CAS (M age = 4;9 [years;months], SD = 2;9) were examined for comorbid conditions. The total number of comorbid conditions and the number of communication-related comorbidities were regressed on CAS severity as rated by speech-language pathologists during diagnosis. The relationship between CAS severity and the presence of four common comorbid conditions was also examined using ordinal or multinomial regressions. Overall, 83 children were classified with mild CAS; 35, with moderate CAS; and 257, with severe CAS. Only one child had no comorbidities. The average number of comorbid conditions was 8.4 (SD = 3.4), and the average number of communication-related comorbidities was 5.6 (SD = 2.2). Over 95% of children had comorbid expressive language impairment. Children with comorbid intellectual disability (78.1%), receptive language impairment (72.5%), and nonspeech apraxia (37.3%; including limb, nonspeech oromotor, and oculomotor apraxia) were significantly more likely to have severe CAS than children without these comorbidities. However, children with comorbid autism spectrum disorder (33.6%) were no more likely to have severe CAS than children without autism. Comorbidity appears to be the rule, rather than the exception, for children with CAS. Comorbid intellectual disability, receptive language impairment, and nonspeech apraxia confer additional risk for more severe forms of CAS. Findings are limited by being from a convenience sample of participants but inform future models of comorbidity. https://doi.org/10.23641/asha.22096622.

A rare case of a male child with post-zygotic de novo mosaic variant c.538C\u2009>\u2009T in MECP2 gene: a case report of Rett syndrome

BackgroundRett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date.Case presentationThis case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before.ConclusionThe present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.

Functional Communication Abilities in Youth With Cerebral Palsy: Association With Impairment Profiles and School-Based Therapy Goals.

The aim of this study was to examine the relationship between functional communication skills, underlying speech, language, and cognitive impairments and school-based speech pathology services in students with cerebral palsy (CP). Thirty-five participants with CP who had Individualized Education Programs (IEPs) were classified according to the Communication Function Classification System (CFCS). Participants completed laboratory assessments of speech, receptive language, executive functioning, and nonverbal cognition. Each participant's speech and language IEP goals were coded into treatment units and then categorized into seven, mutually exclusive target goal areas. Nonparametric analyses were employed to examine differences among CFCS groups in the number of deficit areas and the number of goal areas from the IEP. Descriptive analyses were used to evaluate the extent to which deficit and goal areas in the IEP co-occurred by CFCS level. Those in more involved CFCS levels demonstrated more severe speech, receptive language, and cognitive impairments. However, there were no significant differences in the number of deficit areas across CFCS groups. Regardless of CFCS level, there were no differences in the number of treatment goals specified in the IEP. Literacy was the only goal area addressed across all CFCS levels. Those in the most involved CFCS levels had augmentative and alternative communication (AAC) goals, but those with more moderate restrictions in functional communication who also had markedly reduced speech intelligibility did not typically have speech or AAC goals. Individuals with CP across CFCS levels demonstrate variability in underlying deficit profiles, suggesting that measures of both functional communication and of underlying deficits are necessary to provide a complete picture of communication needs. Literacy goals were common across all CFCS levels, but AAC goals were limited to the most severely involved individuals, suggesting that continuing education may be necessary to support speech-language pathologists in developing treatments involving the integration of AAC and speech to foster functional communication at school. https://doi.org/10.23641/asha.16968073.

Altered maturation and atypical cortical processing of spoken sentences in autism spectrum disorder.

Autism spectrum disorder (ASD) is associated with widespread receptive language impairments, yet the neural mechanisms underlying these deficits are poorly understood. Neuroimaging has shown that processing of socially-relevant sounds, including speech and non-speech, is atypical in ASD. However, it is unclear how the presence of lexical-semantic meaning affects speech processing in ASD. Here, we recorded magnetoencephalography data from individuals with ASD (N = 22, ages 7-17, 4 females) and typically developing (TD) peers (N = 30, ages 7-17, 5 females) during unattended listening to meaningful auditory speech sentences and meaningless jabberwocky sentences. After adjusting for age, ASD individuals showed stronger responses to meaningless jabberwocky sentences than to meaningful speech sentences in the same left temporal and parietal language regions where TD individuals exhibited stronger responses to meaningful speech. Maturational trajectories of meaningful speech responses were atypical in temporal, but not parietal, regions in ASD. Temporal responses were associated with ASD severity, while parietal responses were associated with aberrant involuntary attentional shifting in ASD. Our findings suggest a receptive speech processing dysfunction in ASD, wherein unattended meaningful speech elicits abnormal engagement of the language system, while unattended meaningless speech, filtered out in TD individuals, engages the language system through involuntary attention capture.

Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.

To determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients with polymicrogyria using a battery of standardized tests and correlated findings with topography and severity of polymicrogyria. Patients were identified via clinical research databases and invited to participate, irrespective of cognitive and verbal language abilities. We conducted standardized assessments of speech, oromotor structure and function, language, and nonverbal IQ. Data were analyzed according to normative assessment data and descriptive statistics. We conducted a correlation analysis between topographic pattern and speech and language findings. Fifty-two patients (33 male, 63%) were studied at an average age of 12.7 years (range 2.5-36 years). All patients had dysarthria, which ranged from mild impairment to anarthria. Developmental speech errors (articulation and phonology), oral motor structure and function deficits, and language disorder were frequent. A total of 23/29 (79%) had cognitive abilities in the low average to extremely low range. In the perisylvian polymicrogyria group (36/52), speech, everyday language, and oral motor impairments were more severe, compared to generalized (1 patient), frontal (3), polymicrogyria with periventricular nodular heterotopia (3), parasagittal parieto-occipital (1), mesial occipital (1), and other (7) patterns. Dysarthria is a core feature of polymicrogyria, often accompanied by receptive and expressive language impairments. These features are associated with all polymicrogyria distribution patterns and more severe in individuals with bilateral polymicrogyria, particularly in the perisylvian region.

Ensemble Switching of the DNA-Binding Domain of Human FoxP1

The P-subfamily of Forkhead box (FoxP) transcription factors (TFs) are crucial to the normal development of the central nervous system. Over 25 mutations link the FoxP family with neurodevelopmental disorders (NDD), including Autism Spectrum Disorder, mild-to-moderate intellectual disabilities, obsessions and compulsions, sensory integration disorder, aggression, hyperactivity, and moderate-to-severe expressive and receptive language impairments. We have previously shown that intrinsically disordered regions of the DNA-binding domain of FoxP1 are observed during domain swapping homodimerization. However, we know little about the structural arrangement before the formation of the dimer. Therefore, we use single-molecule (sm) Förster Resonance Energy Transfer (FRET) and molecular dynamics simulations to evaluate the intramolecular FoxP1 conformational space that enables domain swapping. Moreover, we monitor the impact that DNA has in the monomeric and dimeric conditions by monitoring the intramolecular conformational dynamics using a series of double FRET labeled variants. Our data show that the monomeric FoxP1 samples a heterogeneous conformational ensemble, switching between a folded and an expanded ensemble. We corroborate these observations by replica-exchange Discrete Molecular Dynamics (rxDMD) simulations and identify locally disordered regions responsible for the ensemble switching. Finally, we show that DNA stabilizes the folded conformation in the monomer and dimer species whereas the intramolecular flexibility of FoxP1 decreases mainly in dimeric conditions. in summary, we propose that FoxP1 evolved to dimerize and bind as a dimer to DNA due to the dimer’s stabilizing effect. Funding: FONDECYT 1170701; NIH 1P20GM12134201; NSF CAREER MCB-1749778; ANID-Millennium Science initiative Program-ICN17_022.

Atypical Perception of Sounds in Minimally and Low Verbal Children and Adolescents With Autism as Revealed by Behavioral and Neural Measures.

The common display of atypical behavioral responses to sounds by individuals with autism (ASD) suggests that they process sounds differently. Within ASD, individuals who are minimally or low verbal (ASD-MLV) are suspected to have greater auditory processing impairments. However, it is unknown whether atypical auditory behaviors are related to receptive language and/or neural processing of sounds in ASD-MLV. In Experiment 1, we compared the percentage of time 47 ASD-MLV and 36 verbally fluent (ASD-V) participants, aged 5-21, displayed atypical auditory or visual sensory behaviors during the administration of the Autism Diagnostic Observation Schedule (ADOS). In Experiment 2, we tested whether atypical auditory behaviors were more frequent in ASD-MLV participants with receptive language deficits. In Experiment 3, we tested whether atypical auditory behaviors correlated with neural indices of sensitivity to perceptual sound differences as measured by the amplitude of neural responses to nonspeech intensity deviants. We found that ASD-MLV participants engaged in atypical auditory behaviors more often than ASD-V participants; in contrast, the incidence of atypical visual behaviors did not differ between the groups. Lower receptive language skills in the ASD-MLV group were predicted by greater incidence of atypical auditory behaviors. Exploratory analyses revealed a significant negative correlation between the amount of atypical auditory behaviors and the amplitude of neural response to deviants. Future work is needed to elucidate whether the relationship between atypical auditory behaviors and receptive language impairments in ASD-MLV individuals results from disruptions in the brain mechanisms involved in auditory processing. LAY SUMMARY: Minimally and low verbal children and adolescents with autism (ASD-MLV) displayed more atypical auditory behaviors (e.g., ear covering and humming) than verbally fluent participants with ASD. In ASD-MLV participants, time spent exhibiting such behaviors was associated with receptive vocabulary deficits and weaker neural responses to changes in sound loudness. Findings suggest that individuals with ASD with both severe expressive and receptive language impairments process sounds differently. Autism Res 2020, 13: 1718-1729. © 2020 International Society for Autism Research and Wiley Periodicals LLC.

STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics

BackgroundDe novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis.MethodsTo address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group).ResultsThe STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation.ConclusionsDe novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families.

Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech

Objective: The clinical course of childhood apraxia of speech (CAS) is poorly understood. Of the few longitudinal studies in the field, only one has examined adolescent outcomes in speech, language, and literacy. This study is the first to report long-term speech, language, and academic outcomes in an adolescent, Liam, with CAS. Methods: Speech, language, literacy, and academic outcome data were collected, including 3 research-based assessments. Overall, data were available at 17 time points from 3;10 to 15 years. Results: Liam had moderate-to-severe expressive language impairment and poor reading, writing, and spelling up to 10 years. His numeracy was at or above the national average from 8 to 14 years. He made gains in preadolescence, with average expressive language at 11 years and above average reading and writing at 14 years. Nonword reading, reading comprehension, and spelling remained areas of weakness. Receptive language impairment was evident at 13 years, which was an unexpected finding. Conclusion: Findings from single cases can be hypothesis generating but require verification in larger cohorts. This case shows that at least some children with CAS may gain ground in adolescence, relative to same age peers, in expressive language and academic areas such as reading and writing.

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment. A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous with BPP and speech, language, or oral motor impairment. In total, 2411 papers were identified and 48 met inclusion criteria. Expressive and receptive language impairment and oral structural and functional deficits are frequent in BPP. Expressive deficits are frequently more severe than receptive. Only one study used formal assessments to demonstrate the presence of speech disorder, namely dysarthria. Seven studies reported an association between diffuse BPP and more severe language impairment. Findings confirmed that language deficits are common in BPP, though assessment of the specific speech phenotype is limited. The paucity of high quality studies detailing the specific communication phenotype of BPP highlights the need for further investigation. Improving understanding of this phenotype will inform the development of targeted therapies and lead to better long-term outcomes. Speech, language, and oral functional impairments are common in individuals with bilateral perisylvian polymicrogyria. Posterior polymicrogyria is associated with a less severe language impairment than anterior polymicrogyria. Deeper investigation of speech is needed to understand implicated networks in this malformation.

Atypical language characteristics and trajectories in children with 22q11.2 deletion syndrome

Background22q11.2 deletion syndrome (22q11.2DS) is a genetic condition associated with a highly variable phenotypic expression. During childhood speech and language deficits are commonly observed. Findings of cross-sectional studies suggest syndrome-specific and changing language profiles, but a longitudinal approach to identify developmental changes is still lacking to date. AimsThe present study aimed to delineate language characteristics and trajectories by comparing the performance of Dutch-speaking school-aged children with 22q11.2DS (n = 18) to those of peers with idiopathic intellectual disability (IID, n = 19) and to those of children with IID and comorbid autism spectrum disorder (IID + ASD, n = 23). The literature shows contradictory findings regarding language comprehension difficulties in children with 22q11.2DS, we focused on the receptive-expressive language discrepancy. Given their relative strength for verbal short-term memory (VSTM) tasks, a fine-grained error categorization was included to elucidate a possible influence of VSTM on the expressive language outcomes. Finally, we suggested that the inability of children with 22q11.2DS to use contextual information could interfere with morphosyntactic measures. MethodsAll groups (22q11.2DS, IID, and IID + ASD) were matched for nonverbal fluid reasoning (Gf) using the Analogies and Categories subtests of the Snijders-Oomen Nonverbal Intelligence Test or the Matrix Reasoning and Picture Concepts subtests of the Wechsler Preschool and Primary Scale of Intelligence. Several structural language skills were measured using the Clinical Evaluation of Language Fundamentals and Peabody Picture Vocabulary Test. The same instruments were re-administered after 18 to 24 months. A fine-grained error analysis of the Formulating and Recalling Sentences subtests, both measuring expressive syntax, explored factors contributing to expressive language deficits. ResultsIn children with 22q11.2DS the relative advantage of receptive over expressive language had decreased compared to children with IID. For children with 22q11.2DS, complex sentence comprehension remained very challenging over time. Expressive language skills seemed less limited compared to children with IID, and were accompanied by less VSTM difficulties. In children with 22q11.2DS and children with IID + ASD, variable patterns of strengths and weaknesses were demonstrated, resulting in subtle differences between these groups. Error analyses indicated disregard of content-contextual cues and use of vague and elliptic language as being typical for children with 22q11.2DS. ConclusionsWe recommend that in children with 22q11.2DS the impact of the receptive language impairment should be comprehensively examined and followed-up since it can have a negative effect on their social communication skills, adaptive functioning and academic achievement. Error analysis underscores that multiple measures should be used to evaluate the child’s expressive language ability. Further research should focus on developmental trajectories of social communication skills and on the use of intervention strategies to improve language comprehension and pragmatics in school-aged children with 22q11.2DS.

Cognitive Profiles of Finnish Preschool Children With Expressive and Receptive Language Impairment

The aim of this study was to compare the verbal and nonverbal cognitive profiles of children with specific language impairment (SLI) with problems predominantly in expressive (SLI-E) or receptive (SLI-R) language skills. These diagnostic subgroups have not been compared before in psychological studies. Participants were preschool-age Finnish-speaking children with SLI diagnosed by a multidisciplinary team. Cognitive profile differences between the diagnostic subgroups and the relationship between verbal and nonverbal reasoning skills were evaluated. Performance was worse for the SLI-R subgroup than for the SLI-E subgroup not only in verbal reasoning and short-term memory but also in nonverbal reasoning, and several nonverbal subtests correlated significantly with the composite verbal index. However, weaknesses and strengths in the cognitive profiles of the subgroups were parallel. Poor verbal comprehension and reasoning skills seem to be associated with lower nonverbal performance in children with SLI. Performance index (Performance Intelligence Quotient) may not always represent the intact nonverbal capacity assumed in SLI diagnostics, and a broader assessment is recommended when a child fails any of the compulsory Performance Intelligence Quotient subtests. Differences between the SLI subgroups appear quantitative rather than qualitative, in line with the new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM V) classification (American Psychiatric Association, 2013).

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.

Assessing Early Receptive Language Skills in Children With ASD

Language assessments play a large role in the diagnosis and treatment of autism spectrum disorders (ASD) because language impairments are often part of an ASD diagnosis and language status is a fundamental prognostic indicator for individuals with ASD. Receptive language forms the foundation for competent expressive language including literacy skills. Information from language assessments is also used to create therapy goals and monitor progress on these goals. Therefore, valid and accurate assessment of receptive language for individuals with ASD is paramount. Current assessments include tasks that are particularly difficult for individuals with ASD and often assess higher-level language skills and not emerging language skills, resulting in floor effects for individuals with ASD. Developing better receptive language measures is an important area for future research. Assessing and treating receptive language impairments will lead to improved expressive communication, including social communication, and literacy skills for individuals with ASD.

Retinoic Acid Signaling: A New Piece in the Spoken Language Puzzle.

Speech requires precise motor control and rapid sequencing of highly complex vocal musculature. Despite its complexity, most people produce spoken language effortlessly. This is due to activity in distributed neuronal circuitry including cortico-striato-thalamic loops that control speech–motor output. Understanding the neuro-genetic mechanisms involved in the correct development and function of these pathways will shed light on how humans can effortlessly and innately use spoken language and help to elucidate what goes wrong in speech-language disorders. FOXP2 was the first single gene identified to cause speech and language disorder. Individuals with FOXP2 mutations display a severe speech deficit that includes receptive and expressive language impairments. The neuro-molecular mechanisms controlled by FOXP2 will give insight into our capacity for speech–motor control, but are only beginning to be unraveled. Recently FOXP2 was found to regulate genes involved in retinoic acid (RA) signaling and to modify the cellular response to RA, a key regulator of brain development. Here we explore evidence that FOXP2 and RA function in overlapping pathways. We summate evidence at molecular, cellular, and behavioral levels that suggest an interplay between FOXP2 and RA that may be important for fine motor control and speech–motor output. We propose RA signaling is an exciting new angle from which to investigate how neuro-genetic mechanisms can contribute to the (spoken) language ready brain.

Language outcomes of children with cerebral palsy aged 5 years and 6years: a population-based study.

To examine the frequency, range, and features of language impairment in a community sample of children with cerebral palsy (CP) aged 5 to 6years. Children with CP born between 2005 and 2007 were identified through the Victorian Cerebral Palsy Register. Eighty-four participants were recruited, representing 48% of the contacted families. The recruited sample was representative of non-participants. Participants completed standardized measures of receptive and expressive language, and non-verbal cognition. Language impairment was identified in 61% (51/84) of participants. Twenty-four per cent (20/84) were non-verbal. Co-occurring receptive and expressive language impairment was common (37/84, 44%). Isolated receptive (6/84, 7%) and expressive (4/84, 5%) impairments occurred relatively infrequently. At a group level, verbal and non-verbal participants demonstrated deficits across language subdomains (i.e. semantics, syntax, morphology), rather than in single domains. Cognitive impairment and Gross Motor Function Classification System levels IV and V were associated with higher rates of language impairment (odds ratio [OR] 15.2, 95% confidence interval [CI] 3.2-71.8 and OR 8.5, 95% CI 1.8-40.3 respectively). Only cognition was independently associated with language impairment when both of these factors were considered within a multivariable model. Language impairment was common in 5-year-old and 6-year-old children with CP, affecting three out of five children. Participants were impaired across linguistic subdomains indicating a generalized language deficit. Findings suggest most children would benefit from a clinical language assessment. To target services effectively, subgroups of individuals with CP at greatest risk for language impairment need to be identified.