Predicting Persistent Developmental Stuttering Using a Cumulative Risk Approach

Purpose: The purpose of this study was to explore how well a cumulative risk approach, based on empirically supported predictive factors, predicts whether a young child who stutters is likely to develop persistent developmental stuttering. In a cumulative risk approach, the number of predictive factors indicating a child is at risk to develop persistent stuttering is evaluated, and a greater number of indicators of risk are hypothesized to confer greater risk of persistent stuttering. Method: We combined extant data on 3- to 5-year-old children who stutter from two longitudinal studies to identify cutoff values for continuous predictive factors (e.g., speech and language skills, age at onset, time since onset, stuttering frequency) and, in combination with binary predictors (e.g., sex, family history of stuttering), used all-subsets regression and receiver operating characteristic curves to compare the predictive validity of different combinations of 10 risk factors. The optimal combination of predictive factors and the odds of a child developing persistent stuttering based on an increasing number of factors were calculated. Results: Based on 67 children who stutter (i.e., 44 persisting and 23 recovered) with relatively strong speech-language skills, the predictive factor model that yielded the best predictive validity was based on time since onset (≥ 19 months), speech sound skills (≤ 115 standard score), expressive language skills (≤ 106 standard score), and stuttering severity (≥ 17 Stuttering Severity Instrument total score). When the presence of at least two predictive factors was used to confer elevated risk to develop persistent stuttering, the model yielded 93% sensitivity and 65% specificity. As a child presented with a greater number of these four risk factors, the odds for persistent stuttering increased. Conclusions: Findings support the use of a cumulative risk approach and the predictive utility of assessing multiple domains when evaluating a child's risk of developing persistent stuttering. Clinical implications and future directions are discussed.

IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population

Background Developmental stuttering is the most common form of stuttering without apparent neurogenic or psychogenic impairment. Recently, whole-exome sequencing (WES) has been suggested to be a promising approach to study Mendelian disorders. Methods Here, we describe an application of WES to identify a gene potentially responsible for persistent developmental stuttering (PDS) by sequencing DNA samples from 10 independent PDS families and 11 sporadic cases. Sanger sequencing was performed for verification with samples obtained from 73 additional patients with sporadic cases. Results We first searched for cosegregating variants/candidate genes in a Chinese family (Family 0) by sequencing DNA obtained from 3 affected members and 3 controls. Next, we sequenced DNA samples obtained from 9 additional Chinese families (Families 1-9) with stuttering to verify the identified candidate genes. Intriguingly, we found that two missense variants (Leu552Pro and Lys428Gln) of interferon-alpha/beta receptor 1 (IFNAR1) cosegregated with stuttering in three independent families (Families 0, 5 and 9). Moreover, we found two additional mutations (Gly301Glu and Pro335del) in the IFNAR1 gene in 4 patients with sporadic cases by using WES or Sanger sequencing. Further receptor mutagenesis and cell signaling studies revealed that these IFNAR1 variants may impair the activity of type I IFN signaling. Conclusion Our data indicate that IFNAR1 might be a potential pathogenic gene of PDS in the Chinese population.

Risk Factors of Stuttering

Background Stuttering is a multifactorial and complex disorder that results from the influence of many factors, which include genetic predisposition, motor speech skills, linguistic skills and cognitive, emotional and environmental factors. A wide range of possible risk factors has been proposed in the literature, including age; gender; type and manner of onset; duration of the disfluency; type of disfluency; associated communicative and qualitative factors; physical and emotional stress; family history of stuttering; personal, familial and social reaction; and family attitudes. Objectives The aim of this work is to study the different risk factors of stuttering in children in order to understand more about its nature, etiology and to help to decrease its incidence if possible. Patients and Methods For this purpose; 96 patients complained from stuttering were evaluated. All data were collected after completing the assessment of patients and their parents. They were 60 (62.5%) male patients and 36 (37.5%) female patients, they showed a statistically significant difference. The age of the patients ranged from 4 to 18 years with mean ± SD of 7.75 ± 4.78 years. The age of onset of the studied patients ranged from 3 to 12 years with mean ± SD of 4.25 ± 2.31 years. Most of the patients were resident in rural areas; 64 patients (66.67%), while the urban resident was 32 patients (33.33%), they were statistically significant. Results The present study showed the etiology of stuttering in the studied patients. The most prominent cause was the developmental stuttering (86.45%) followed by neurological stuttering (13.55%). The dysfluency distribution of the studied patients. The most prominent was the Syllables and words repetition 65 (67.7%) of patients followed by IPDs 22 (22.9%) of the patients, 6 (6.25%) of the patients had prolongation and 3 (3.125%) of the patients had tonic blocks. Our study observed that family history of stuttering was found in 54 (56.25%) of patients, consanguinity was found in 30 (31.25%) of the patients, first degree relatives was found in 15 (15.625%) of the patients and second-degree relatives was present in 6 (6.25%) of the patients. Conclusion The data of the present study concluded that the presence of stuttering or defects in speech quality and communication. Risk factors include multifactorial dynamic pathways that include: positive family history, being male (as boys are more likely than girls to keep stuttering), the onset (as children who start to stutter before age 3½ are more likely to outgrow it than children who start to stutter at an older age), the amount of time that it's lasted.

Anormalidades da formação cerebral e os transtornos de desenvolvimento neural

Transtornos do desenvolvimento neural constituem um grupo bastante diverso de problemas identificáveis clinicamente, que decorrem de perturbações do desenvolvimento neurológico, manifestam-se desde a infância, mesmo que sejam reconhecidos somente mais tarde, são persistentes, geram algum grau de limitação seja na capacidade de aprendizagem, na comunicação, ou na interação social, o que produz reflexos na vida escolar, laboral ou outras áreas da vida. Os principais transtornos do desenvolvimento neural são o transtorno do espectro autista (autismo), a deficiência intelectual (retardo mental ou deficiência mental), o transtorno do déficit de atenção e hiperatividade (TDAH), a epilepsia dos transtornos do desenvolvimento, a dislexia do desenvolvimento, a discalculia do desenvolvimento, a gagueira do desenvolvimento e a paralisia cerebral. Os transtornos do desenvolvimento neural podem ter diversas causas, genéticas e não genéticas (ambientais), e muitas vezes ambas contribuem para a ocorrência do transtorno. O objetivo deste trabalho é compreender os mecanismos envolvidos na origem dos transtornos de desenvolvimento neural durante a formação cerebral a partir de trabalhos da base de dados do índice Medline. Neurodevelopmental disorders are a very diverse group of clinically identifiable disorders that result from derangement of neural development, they are persistent and manifest from childhood, even if they are only recognized later, and generate some degree of limitation in the learning capacity, communication, or social interaction, which produces reflexes in school, work or other areas of life. The main neurodevelopmental disorders are autism spectrum disorder (autism), intellectual disability (mental retardation or mental disability), attention deficit hyperactivity disorder (ADHD), developmental epilepsy, developmental dyslexia, developmental dyscalculia, developmental stuttering and cerebral palsy. Neurodevelopmental disorders may have several causes, genetic and non-genetic (environmental), and often both act simultaneously. The aim of this work is to understand the mechanisms involved in the origin of neural development disorders during brain formation based on words from the Medline index database.

Weak Vestibular Response in Persistent Developmental Stuttering

Vibrational energy created at the larynx during speech will deflect vestibular mechanoreceptors in humans (Todd et al., 2008; Curthoys, 2017; Curthoys et al., 2019). Vestibular-evoked myogenic potential (VEMP), an indirect measure of vestibular function, was assessed in 15 participants who stutter, with a non-stutter control group of 15 participants paired on age and sex. VEMP amplitude was 8.5 dB smaller in the stutter group than the non-stutter group (p = 0.035, 95% CI [−0.9, −16.1], t = −2.1, d = −0.8, conditional R2 = 0.88). The finding is subclinical as regards gravitoinertial function, and is interpreted with regard to speech-motor function in stuttering. There is overlap between brain areas receiving vestibular innervation, and brain areas identified as important in studies of persistent developmental stuttering. These include the auditory brainstem, cerebellar vermis, and the temporo-parietal junction. The finding supports the disruptive rhythm hypothesis (Howell et al., 1983; Howell, 2004) in which sensory inputs additional to own speech audition are fluency-enhancing when they coordinate with ongoing speech.