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Purpose: This study aimed to provide detailed descriptive information about the speech of a heterogeneous cohort of children with autism spectrum disorder (ASD) and to explore whether subgroups exist based on this detailed speech data. High rates of delayed and disordered speech in both low-verbal and high-functioning children with ASD have been reported. There is limited information regarding the speech abilities of young children across a range of functional levels. Method: Participants were 23 children aged 2;0–6;11 (years;months) with a diagnosis of ASD. Comprehensive speech and language assessments were administered. Independent and relational speech analyses were conducted from single-word naming tasks and spontaneous speech samples. Hierarchical clustering based on language, nonverbal communication, and spontaneous speech descriptive data was completed. Results: Independent and relational speech analyses are reported. These variables are used in the cluster analyses, which identified three distinct subgroups: (a) children with high language and high speech ability ( n = 10), (b) children with low expressive language and low speech ability but higher receptive language and use of gestures ( n = 3), and (c) children with low language and low speech development ( n = 10). Conclusions: This is the first study to provide detailed descriptive speech data of a heterogeneous cohort of children with ASD and use this information to statistically explore potential subgroups. Clustering suggests a small number of children present with low levels of speech and expressive language in the presence of better receptive language and gestures. This communication profile warrants further exploration. Replicating these findings with a larger cohort of children is needed. Supplemental Material https://doi.org/10.23641/asha.16906978

Subgroups of children with different speech profiles have been described however, little is known about the trajectories of speech development or stability of subgroups over time. This longitudinal study described both speech trajectories and subgroup stability of 22 autistic children, aged 2;0–6;11 years, over 12 months. Independent and relational speech analyses, vocabulary size and nonverbal communication were used in clustering. Results suggest varied speech trajectories, particularly for children with ‘low language and low speech’ at Time 1. Receptive vocabulary and consonant inventory at Time 1 may predict speech outcomes after 12 months. A small subgroup of children (n = 3) present with low expressive vocabulary and speech but higher receptive vocabulary and use of gestures. This unique profile remained stable.

Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years (SD 4.1) and 57% were female. Deletion size ranged from 41 kb to 8.3 Mb. Nine participants (45%) were non-verbal. Four (19%) had greater verbal ability, speaking in at least 4–5 word sentences, but with speech sound errors. Standard scores for receptive and expressive language were low (typically >3 SD below the mean). Language age equivalency was 13–16 months on average (range 2–53 months). There was a significant association between deletion size and the ability to use phrases. Participants with smaller deletion sizes were more likely to be able to use phrases (odds ratio: 0.36, 95% CI: 0.14–0.95, p = 0.040). Adaptive behaviour (life skills) was low in all areas (>2 SD below mean). Scores in communication were markedly lower than for daily living (p = 0.008) and socialisation (p

Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years (SD 4.1) and 57% were female. Deletion size ranged from 41 kb to 8.3 Mb. Nine participants (45%) were non-verbal. Four (19%) had greater verbal ability, speaking in at least 4-5 word sentences, but with speech sound errors. Standard scores for receptive and expressive language were low (typically3 SD below the mean). Language age equivalency was 13-16 months on average (range 2-53 months). There was a significant association between deletion size and the ability to use phrases. Participants with smaller deletion sizes were more likely to be able to use phrases (odds ratio: 0.36, 95% CI: 0.14-0.95, p = 0.040). Adaptive behaviour (life skills) was low in all areas (2 SD below mean). Scores in communication were markedly lower than for daily living (p = 0.008) and socialisation (p 0.001). A common linguistic profile was characterised by severe impairment across receptive, expressive and social language domains. Yet data indicated greater communicative intent than appeared to be capitalised by current therapies. Early implementation of augmentative (e.g. computer-assisted) modes of communication, alongside promotion of oral language, is essential to harness this intent, accelerate language development and reduce frustration. Future trials should examine the added benefit of targeted speech motor interventions in those with greater verbal capacity.

Objective This study describes the phenotype in a large family with a strong, multigenerational history of severe speech sound disorder (SSD) persisting into adolescence and adulthood in approximately half the cases. Aims were to determine whether a core phenotype, broader than speech, separated persistent from resolved SSD cases; and to ascertain the uniqueness of the phenotype relative to published cases. Method Eleven members of the PM family (9–55 years) were assessed across cognitive, language, literacy, speech, phonological processing, numeracy, and motor domains. Between group comparisons were made using the Mann–WhitneyU-test (p Results Significant group differences were evident on multiple speech, language, literacy, phonological processing, and verbal intellect measures without any overlapping scores. Persistent cases performed within the impaired range on multiple measures. Phonological memory impairment and subtle literacy weakness were present in resolved SSD cases. Conclusion A core phenotype distinguished persistent from resolved SSD cases that was characterized by a multiple verbal trait disorder, including Childhood Apraxia of Speech. Several phenotypic differences differentiated the persistent SSD phenotype in the PM family from the few previously reported studies of large families with SSD, including the absence of comorbid dysarthria and marked orofacial apraxia. This study highlights how comprehensive phenotyping can advance the behavioral study of disorders, in addition to forming a solid basis for future genetic and neural studies.

Persistent Speech Disorder (PSD) is present when a speech impairment extends beyond 8–9 years of age. Persistent Speech Disorder can extend into adolescence and adulthood. While PSD can include individuals with residual speech errors, such as distortions of /r/, /s/, and /z/, clinicians are particularly concerned in cases where PSD affects speech intelligibility. This paper is presented in two parts. Part 1 reviews the limited literature available on speech, language, literacy, educational, vocational, and socio-emotional outcomes in people with PSD of currently unknown origin. Part 2 presents a case study of a 22-year-old man, known as BJ, who has Nonverbal IQ in the normal range and severe PSD, specifically Childhood Apraxia of Speech. Longitudinal data on BJ from 3;3 years to 22 years is presented, alongside BJ's insights into PSD written via e-mail or using his electronic communication device. These two sources of information add to the limited body of information about the course of PSD and the experience of PSD in an individual through to adulthood.