Self-reported impact of developmental stuttering across the lifespan.

AIM: To examine the phenomenology of stuttering across the lifespan in the largest prospective cohort to date. METHOD: Participants aged 7 years and older with a history of developmental stuttering were recruited. Self-reported phenotypic data were collected online including stuttering symptomatology, co-occurring phenotypes, genetic predisposition, factors associated with stuttering severity, and impact on anxiety, education, and employment. RESULTS: A total of 987 participants (852 adults: 590 males, 262 females, mean age 49 years [SD = 17 years 10 months; range = 18-93 years] and 135 children: 97 males, 38 females, mean age 11 years 4 months [SD = 3 years; range = 7-17 years]) were recruited. Stuttering onset occurred at age 3 to 6 years in 64.0%. Blocking (73.2%) was the most frequent phenotype; 75.9% had sought stuttering therapy and 15.5% identified as having recovered. Half (49.9%) reported a family history. There was a significant negative correlation with age for both stuttering frequency and severity in adults. Most were anxious due to stuttering (90.4%) and perceived stuttering as a barrier to education and employment outcomes (80.7%). INTERPRETATION: The frequent persistence of stuttering and the high proportion with a family history suggest that stuttering is a complex trait that does not often resolve, even with therapy. These data provide new insights into the phenotype and prognosis of stuttering, information that is critically needed to encourage the development of more effective speech therapies. WHAT THIS PAPER ADDS: Half of the study cohort had a family history of stuttering. While 75.9% of participants had sought stuttering therapy, only 15.5% identified as having recovered. There was a significant negative correlation between age and stuttering frequency and severity in adults.

Communication in children born very preterm: a prospective cohort study.

AIM: To compare language, speech, and voice of children born preterm and at term, and determine relevant predictors of outcome. METHOD: Three hundred infants (150 males, 150 females; 149 born at <30wks' gestation, 151 term-born) were prospectively recruited at birth from the Royal Women's Hospital. We administered the Preschool Language Scales, Fifth Edition, Diagnostic Evaluation of Articulation and Phonology, Grade Roughness Breathiness Asthenia Strain Scale, and Pediatric Voice Handicap Index at 3 years, and compared groups. We examined hypothesized predictors in children born preterm: gestational age at birth, birthweight, sex, chronic lung disease, high social risk, multilingualism, neurodevelopmental diagnosis, and oromotor feeding. RESULTS: Children born preterm had poorer language than children born at term (coefficient -5.43). Speech and voice were similar between groups (coefficients -0.70 to 1.63). Chronic lung disease predicted voice (coefficient 6.05); male sex (coefficients 4.54-6.18), high social risk (coefficient -6.02 to -9.30), and neurodevelopmental diagnosis (coefficients -16.42 to -20.61) predicted language. INTERPRETATION: Children born before 30 weeks' gestation had poorer language than children born at term. Children born preterm with neurodevelopmental disabilities or high social risk experience poorer language outcomes, and would benefit from enrichment of their language environment. WHAT THIS PAPER ADDS: Speech and voice outcomes were similar between children born preterm and at term. Male sex, high social risk, and neurodevelopmental diagnosis predicted language outcomes.

Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report.

BACKGROUND: Submucous cleft palate (SMCP) has a heterogeneous presentation and is often identified late or misdiagnosed. Diagnosis is prompted by speech, resonance or feeding symptoms associated with velopharyngeal insufficiency. However, the broader impacts of SMCP on communication have rarely been examined and therefore are poorly understood. AIM: To describe the communicative profile of individuals with non-syndromic SMCP by examining speech, language and pragmatics (social language). METHODS & PROCEDURES: Fifteen participants with SMCP aged 5;1-12;8, without a genetic diagnosis, participated in the study. Participants completed standardized assessments examining language, resonance, speech and non-verbal intellect. Parents also completed the Children's Communication Checklist (CCC-2), which provided a measure of overall communicative ability, including pragmatic skills. Formal language outcomes were compared with two cohorts: 36 individuals with overt non-syndromic clefts and 129 individuals with no history of clefting. OUTCOMES & RESULTS: Speech intelligibility was reduced secondary to hypernasality, disordered articulation and/or impaired phonology (n = 7) in children with SMCP. Poorer overall language outcomes were observed for children with SMCP compared with both those with overt clefts and no history of clefting (p < 0.001). Language scores for children with SMCP ranged from impaired (n = 6) to above the standardized mean (n = 4). Receptive and expressive language performance were independently correlated with non-verbal IQ (p < 0.01). Those with severe language impairment (n = 4) also had borderline or impaired non-verbal IQ. Parents reported that speech and semantics were the most affected sub-domains of communication, while scores were the highest for the initiation domain. Speech and language skills were correlated strongly with pragmatics (r = 0.877, p < 0.01). CONCLUSIONS & IMPLICATIONS: Overall, performance was variable within the SMCP group across speech, language and pragmatic assessments. In addition to well-documented speech difficulties, children with SMCP may have language or pragmatic impairments, suggesting that further neurodevelopmental influences may be at play. As such, for individuals with SMCP, additional clinical screening of language and pragmatic abilities may be required to ensure accurate diagnosis and guide both cleft and non-cleft related therapy programmes.

Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate.

OBJECTIVE: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically "unaffected" relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case-control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. PARTICIPANTS: Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207). MAIN OUTCOME MEASURE(S): Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli. RESULTS: Both perceptual and instrumental measures showed no significant difference (P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex. CONCLUSIONS: Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.

Feeding behavior in three-year-old children born <30 weeks and term-born peers.

BACKGROUND: Feeding difficulties threaten growth, health and neurodevelopment, and are prevalent among infants born preterm. The literature differs on (i) whether these problems persist into early childhood, and (ii) risk factors in the preterm population. In this study we explore feeding difficulties and risk factors in preterm and term-born three-year-olds. OBJECTIVES: To determine whether three-year-olds born <30 weeks have poorer feeding outcomes than their term-born peers; and identify predictors of feeding outcomes in children born <30 weeks. METHODS: Feeding outcomes were examined in three-year-old children born <30 weeks, and a term-born comparison group, using parent report and the Behavioral Pediatric Feeding Assessment Scale (BPFAS). Factors hypothesized to be associated with feeding difficulties and preterm birth were examined in the preterm group, including: gestational age at birth, birth weight z-score, chronic lung disease (CLD), nasogastric tube (NGT) feeding at hospital discharge, age at breastfeeding cessation, oromotor feeding impairment at 12 months, weight at 12 months in kilograms and neurodevelopmental diagnoses. RESULTS: In 217 children (111 born <30 weeks, 106 term-born), parents of children born <30 weeks reported more feeding concerns on parent report questions than parents of term-born peers. CLD, NGT at discharge, neurodevelopmental diagnoses and weight at 12 months predicted these parent-reported outcomes. By contrast, there was no difference in BPFAS results between preterm and term groups, and BPFAS scores were predicted only by birth-weight z-score in the preterm group. CONCLUSIONS: Behavioral feeding outcomes for three-year-old children born <30 weeks were equivalent to term-born peers in this study, however parental concerns about feeding differed. Further investigation is required to identify the drivers of parent concerns about feeding. Children displaying core risk factors warrant specific follow-up of feeding outcomes.

Receptive and expressive language characteristics of school-aged children with non-syndromic cleft lip and/or palate.

BACKGROUND: Research investigating language skills in school-aged children with non-syndromic cleft lip and/or palate is sparse. Past studies focus on younger populations, lack key comparisons to demographically matched control cohorts or explore language as a component of broader academic skills. Trends of existing studies suggest that affected children may perform at a lower level compared with typically developing peers. AIMS: To examine the receptive and expressive language skills of middle-school-aged children with non-syndromic cleft lip and palate (CLP) and cleft palate only (CP). Additionally, to explore the language skills of children with clefts compared with a non-cleft control group. METHODS & PROCEDURES: Thirty-seven participants with orofacial clefts (aged 7;1-14;1 years) participated in the study: 19 with CLP (10 males; 9 females) and 18 with CP (8 males; 10 females). A non-cleft comparison group consisted of 129 individuals matched on age, sex and maternal education level. Participants completed formal language (Clinical Evaluation of Language Fundamentals, Fourth Edition) and non-verbal intellectual measurements (Wechsler Abbreviated Scale of Intelligence-WASI). Demographic and developmental information was obtained via parental interview. Further clinical details (e.g., surgery; hearing status) were extracted from patient medical files. Cleft and non-cleft language and non-verbal IQ outcomes were reported separately. Language outcomes were then compared between groups. OUTCOMES & RESULTS: Participants with clefts achieved core (mean = 103.31, standard deviation (SD) = 10.31), receptive (mean = 102.51, SD = 11.60) and expressive (mean = 102.89, SD = 12.17) language index scores within the normative average range. A total of 14.1% and 17.8% of the cleft and non-cleft groups respectively had impairment (i.e., ≥ 1.25 SD below the mean) in one or more language domains. No significant differences were found in the three language index scores between cleft and non-cleft groups. CONCLUSIONS & IMPLICATIONS: This study is the first formally to examine language skills alongside non-verbal IQ in school-aged children with clefts compared with a large matched non-cleft population. Results suggest that health professionals should evaluate each child as they present and not assume that a child with non-syndromic CLP or CP will also have co-occurring language difficulties. Where language falls in the average range, these skills can be harnessed to support areas of difficulty often associated with orofacial clefting, such as speech.

Speech and language characteristics in individuals with nonsyndromic submucous cleft palate-A systematic review.

BACKGROUND: Up to 80% of individuals with unrepaired submucous cleft palate (SMCP) experience speech difficulties secondary to velopharyngeal insufficiency. Language delays are reported in the broader cleft lip and/or palate population, suggesting that individuals with SMCP may also be at risk. However, contemporary understanding of this population remains limited as there has been no systematic examination of the literature. This review aims to systematically review and document the speech and language characteristics of individuals with nonsyndromic SMCP and, in addition, to identify factors reported to impact speech and language outcomes. METHOD: This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Five databases were comprehensively searched using keywords and indexed headings. Included studies had to report speech or language outcomes of individuals with nonsyndromic SMCP. Risk of bias and methodological design quality were examined using tools from the Scottish Intercollegiate Guidelines Network. Relevant data were extracted for analysis. RESULTS: Eighteen studies met inclusion criteria, yielding 598 participants. Study results showed that individuals with unrepaired nonsyndromic SMCP may have speech difficulties secondary to velopharyngeal insufficiency including increased nasal resonance and palatalized or glottal articulation. Lower age at primary surgical repair led to better postsurgical speech outcomes. There is a paucity of literature outlining motor or phonological aspects of speech and receptive or expressive language abilities of this population. CONCLUSION: Individuals with nonsyndromic SMCP present with speech difficulties similar to those experienced by individuals with overt cleft palate. Health care professionals should be aware of possible presenting symptoms and consider early SMCP diagnoses where appropriate. Further research is needed to specify the broader communication profile in this population.

Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.

Purpose: Stickler Syndromes are multisystem collagenopathies affecting 1 in 7500-9000 individuals and are associated with craniofacial, ocular, auditory, and musculoskeletal complications. Prophylactic retinopexy treatment reduces the risk of retinal detachment, emphasising the need for early detection and multidisciplinary referral. This study evaluated knowledge and awareness of Stickler Syndromes among allied health professionals and their perceived needs for targeted education to improve multidisciplinary care. Methods: A cross-sectional survey was undertaken among audiologists, speech pathologists, optometrists, orthoptists, and physiotherapists in Australia. Survey questions included practitioner demographics, awareness and knowledge of Stickler Syndromes, confidence managing Stickler Syndromes, and perception of multidisciplinary care needs for Stickler Syndromes. Results: Of 180 healthcare professions who participated (79% female; 78% aged between 25 and 44 years), 55% indicated that they had heard of Stickler Syndrome, and 14% had directly worked with patients known to have Stickler Syndromes. Practitioners who had were either optometrists, orthoptists, or audiologists. The most recognised clinical sign of Stickler Syndromes was retinal detachment (selected by 66% of optometrists and orthoptists and 16% of other professions), but only 41% of optometrists and orthoptists (27% all respondents) selected cryopexy as a potential management strategy. Vitreous anomaly was recognised as a clinical feature by 20% of all respondents. Overall, 69% of allied health professionals did not feel confident managing Stickler Syndromes, and a similar number of practitioners (69%) indicated that they were willing to attend professional development courses for complex conditions such as Stickler Syndromes. Conclusion: This study provides meaningful insights on awareness and knowledge of Stickler Syndromes among allied healthcare professionals. Targeted clinician education, enhanced communication between healthcare entities, and multidisciplinary care programs can significantly improve the integrated care of Stickler Syndromes leading to better patient outcomes.

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

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Conversational Language in 3-Year-Old Children Born Very Preterm and at Term.

Purpose Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine differences in conversational language between children born < 30 weeks and at term as well as correlations between language sample analysis (LSA) and a standardized language tool. Method Two hundred four 3-year-olds (103 born < 30 weeks, 101 born at term) recruited at birth provided a 10-min language sample and completed the Preschool Language Scales-Fifth Edition (I. Zimmerman, Steiner, & Pond, 2011). LSA was conducted using the Systematic Analysis of Language Transcripts and Index of Productive Syntax. Group differences were analyzed using linear regression, and Pearson correlation coefficient (coef) was used to determine correlations between measures. Results Children born < 30 weeks scored lower than term-born peers on multiple metrics when controlled for confounding factors (sex, high social risk, multilingualism, and diagnosed neurodevelopmental disorders), including mean length of utterance in morphemes (coef = -0.28, 95% confidence interval [CI] [-0.56, 0.01]) and words (coef = -0.29, 95% CI [-0.53, -0.05]), number of different word roots (coef = -10.04, 95% CI [-17.93, -2.14]), and Index of Productive Syntax sentence structures (coef = -1.81, 95% CI [-3.10, -0.52]). Other variables (e.g., number of utterances, number of nouns and adjectives) were not significantly different between groups. LSA and the Preschool Language Scales-Fifth Edition were at most moderately correlated (≤ .45). Conclusions Three-year-old children born preterm demonstrated poorer conversational language than children born at term, with some specific areas of deficit emerging. Furthermore, formal assessment and LSA appear to provide relatively distinct and yet complementary data to guide diagnostic and intervention decisions. Supplemental Material https://doi.org/10.23641/asha.11368073.

ABM Clinical Protocol #17: Guidelines for Breastfeeding Infants with Cleft Lip, Cleft Palate, or Cleft Lip and Palate-Revised 2019.

A central goal of the Academy of Breastfeeding Medicine is the development of clinical protocols for managing common medical problems that may impact breastfeeding success. These protocols serve only as guidelines for the care of breastfeeding mothers and infants and do not delineate an exclusive course of treatment or serve as standards of medical care. Variations in treatment may be appropriate according to the needs of an individual patient.