The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.

Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52,143 individuals, reconstructing clinical histories using a large-scale data mining approach of the Electronic Medical Records (EMR) from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of twenty-six broad speech and language diagnoses. We used Natural Language Processing to assess to which degree clinical diagnosis in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be easily retrieved through ICD-10 diagnosis codes, while stuttering as a speech phenotype was only coded in 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and to a lesser degree with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our EMR analysis were STXBP1 (n=21), PTEN (n=20), and CACNA1A (n=18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 and aphasia (P=8.57 × 10-7, CI=18.62-130.39) and MYO7A with speech and language development delay due to hearing loss (P=1.24 × 10-5, CI=17.46-Inf). Finally, in a sub-cohort of 726 individuals with whole exome sequencing data, we identified an enrichment of rare variants in synaptic protein and neuronal receptor pathways and associations of UQCRC1 with expressive aphasia and WASHC4 with abnormality of speech or vocalization. In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype-phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.

Stuttering and Autism Spectrum Disorders: Assessment and Treatment.

Dual diagnoses of autism spectrum disorders (ASDs) and stuttering have been reported in the literature, but little is known about how often they co-occur, the best practices for assessment, and even less about intervention. In this article, we gathered the data available on these issues and compiled and analyzed the sparse findings to offer suggestions for assessment and treatment. This article begins with a glossary of terms to promote consistency and understanding. Next, suggestions for assessment are provided along with a work sheet to document fluency breakdowns and monitor change. Suggestions for language and cognitive issues are also provided with a sample worksheet. Finally, an outline and explanation of stuttering/fluency goals for clients with these dual diagnoses are included. Case studies of two individuals who stutter and are diagnosed with ASD are presented to provide exemplars of how to assess and treat individuals with these dual diagnoses. Caveats on how to work with individuals with ASD and fluency disorders, based on our current understanding, are presented in the conclusion.

Best Practice for Developmental Stuttering: Balancing Evidence and Expertise.

Purpose: Best practice for developmental stuttering remains a topic of debate. In the clinical forum following this introduction, four fluency experts balance the evidence and expertise to describe their approach to assessment and treatment.

Linguistic camouflage in girls with autism spectrum disorder.

BACKGROUND: Autism spectrum disorder (ASD) is diagnosed more frequently in boys than girls, even when girls are equally symptomatic. Cutting-edge behavioral imaging has detected "camouflaging" in girls with ASD, wherein social behaviors appear superficially typical, complicating diagnosis. The present study explores a new kind of camouflage based on language differences. Pauses during conversation can be filled with words like UM or UH, but research suggests that these two words are pragmatically distinct (e.g., UM is used to signal longer pauses, and may correlate with greater social communicative sophistication than UH). Large-scale research suggests that women and younger people produce higher rates of UM during conversational pauses than do men and older people, who produce relatively more UH. Although it has been argued that children and adolescents with ASD use UM less often than typical peers, prior research has not included sufficient numbers of girls to examine whether sex explains this effect. Here, we explore UM vs. UH in school-aged boys and girls with ASD, and ask whether filled pauses relate to dimensional measures of autism symptom severity. METHODS: Sixty-five verbal school-aged participants with ASD (49 boys, 16 girls, IQ estimates in the average range) participated, along with a small comparison group of typically developing children (8 boys, 9 girls). Speech samples from the Autism Diagnostic Observation Schedule were orthographically transcribed and time-aligned, with filled pauses marked. Parents completed the Social Communication Questionnaire and the Vineland Adaptive Behavior Scales. RESULTS: Girls used UH less often than boys across both diagnostic groups. UH suppression resulted in higher UM ratios for girls than boys, and overall filled pause rates were higher for typical children than for children with ASD. Higher UM ratios correlated with better socialization in boys with ASD, but this effect was driven by increased use of UH by boys with greater symptoms. CONCLUSIONS: Pragmatic language markers distinguish girls and boys with ASD, mirroring sex differences in the general population. One implication of this finding is that typical-sounding disfluency patterns (i.e., reduced relative UH production leading to higher UM ratios) may normalize the way girls with ASD sound relative to other children, serving as "linguistic camouflage" for a naïve listener and distinguishing them from boys with ASD. This first-of-its-kind study highlights the importance of continued commitment to understanding how sex and gender change the way that ASD manifests, and illustrates the potential of natural language to contribute to objective "behavioral imaging" diagnostics for ASD.

Incidence and factors associated with sensorineural and conductive hearing loss among survivors of congenital diaphragmatic hernia.

PURPOSE: The reported incidence of sensorineural hearing loss (SNHL) in long-term survivors of congenital diaphragmatic hernia varies widely in the literature. Conductive hearing loss (CHL) is also known to occur in CDH patients, but has been less widely studied. We sought to characterize the incidence and risk factors associated with SNHL and CHL in a large cohort of CDH patients who underwent standardized treatment and follow-up at a single institution. METHODS: We retrospectively reviewed charts of all CDH patients in our pulmonary hypoplasia program from January 2004 through December 2012. Categorical variables were analyzed by Fisher's exact test and continuous variables by Mann-Whitney t-test (p≤0.05). RESULTS: A total of 112 patients met study inclusion criteria, with 3 (2.7%) patients diagnosed with SNHL and 38 (34.0%) diagnosed with CHL. SNHL was significantly associated with requirement for ECMO (p=0.0130), prolonged course of hospitalization (p=0.0011), duration of mechanical ventilation (p=0.0046), requirement for tracheostomy (p=0.0013), and duration of loop diuretic (p=0.0005) and aminoglycoside therapy (p=0.0003). CONCLUSIONS: We have identified hearing anomalies in over 30% of long-term CDH survivors. These findings illustrate the need for routine serial audiologic evaluations throughout childhood for all survivors of CDH and stress the importance of targeted interventions to optimize long-term developmental outcomes pertaining to speech and language.

Traits of attention deficit/hyperactivity disorder in school-age children who stutter.

PURPOSE: The purpose of this study was to explore whether parents of CWS reported the presence of ADHD symptoms that would warrant a referral to a psychologist to rule out the disorder. This study also aimed to describe the characteristics of the sample in terms of gender, family history of stuttering, presence of neurological impairment, concomitant diagnoses, and stuttering severity. Finally, this study sought to explore the possible statistical relations among these same variables. METHODS: Participants were 36 school-age CWS (32 males and 4 females) between the ages of 3.9 and 17.2 years (M=10.4, SD=4.0). Parent responses on the ADHD Rating Scale (Power et al., 2001) were collected via a retrospective chart review. RESULTS: For this sample 58% (n=21), of the participants met criteria for needing referral for additional evaluation for symptoms related to ADHD. A strong positive relation (r=.720, p<.001) was found between a reported family history of recovered stuttering and the presence of a concomitant diagnosis. CONCLUSION: The results of the present study demonstrate the need for further training and education for SLPs working with CWS regarding ADHD. EDUCATIONAL OBJECTIVES: The reader will be able to (1) describe the main characteristics of ADHD, (2) discuss the evidence suggesting a possible relationship between ADHD and stuttering and (3) discuss how ADHD characteristics could impact clinical outcomes for CWS.