Phonological assessment and analysis tools for Polish: Construction and use.

This contribution presents tools for the assessment of phonological development of Polish-learning children and an initial qualitative evaluation thereof. The tools are consistent with those developed for 16 other languages in a cross-linguistic study of phonological development that is embedded in the framework of constraint-based nonlinear phonology. This theoretical foundation underlies the composition of a Polish word list for elicitation plus a supplementary analysis and intervention planning form (where intervention is warranted). A qualitative pilot study evaluated the tools in terms of adherence to underlying theoretical constructs, coverage of Polish phonology in the developmental context and utility for testing two children, one of whom was characterised by protracted phonological development. Further steps are required to develop the test into a norm-referenced instrument for clinical and research purposes, including quantitative evaluations of the tools' psychometric properties.

Acquisition of the feature [+spread glottis] in Icelandic.

The feature [+spread glottis] ([+s.g.]) denotes that a speech sound is produced with a wide glottal aperture with audible voiceless airflow. Icelandic is unusual in the degree to which [+spread glottis] is involved in the phonology: in /h/, pre-aspirated and post-aspirated stops, voiceless fricatives and voiceless sonorants. The ubiquitousness of the feature could potentially affect the rate and process of its acquisition. This paper investigates the development of [+s.g.] in Icelandic, both in general and in a range of contexts, in a cross-sectional study of 433 typically developing Icelandic-speaking children aged two to seven years. As a feature, [+s.g.] is acquired early in Icelandic, although specific sound classes lag behind due to other output constraints. Children reach mastery of [+s.g.] by age three except in word-initial post-aspirated stops and voiceless nasals. Findings are interpreted in light of the literature on the feature and its development.

Singleton consonant onset acquisition in monolingual Granada Spanish-speaking preschoolers with typical versus protracted phonological development: Impacts of word structure and feature constraints.

While consonant acquisition clearly requires mastery of different articulatory configurations (segments), sub-segmental features and suprasegmental contexts influence both order of acquisition and mismatch (error) patterns (Bérubé, Bernhardt, Stemberger & Ciocca, 2020). Constraints-based nonlinear phonology provides a comprehensive framework for investigating the impact of sub- and suprasegmental impacts on acquisition (Bernhardt & Stemberger, 1998). The current study adopted such a framework in order to investigate these questions for Granada Spanish. Single-word samples of monolingual preschoolers in Granada (29 typically developing; 30 with protracted phonological development) were transcribed by native Spanish speakers in consultation with an international team. Beta regression analyses showed significant effects of age, developmental group, and word structure variables (word length, stress, position of consonants and syllables within the word); salience, markedness and/or frequency across the phonological hierarchy accounted for many patterns. The study further demonstrates the impacts of sub- and suprasegmental constraints of the phonological system on consonant acquisition.

When in doubt, glottal stop: A Mandarin-speaking three-year-old with protracted phonological development.

As part of a special issue on case profiles in protracted phonological development (PPD), we present a Mandarin-speaking three-year-old boy from Shanghai with severe PPD and no other developmental concerns. In comparison with typically developing (TD) children and a peer group from Shanghai with PPD, he had a very low Whole Word Match score (3.7% of words matched the adult targets exactly), reflecting severe constraints on word structure, consonants and diphthongs/triphthongs. His phonological output resembled that of younger children in its absence of fricatives, liquids and diphthongs/triphthongs alongside fairly high match for word length, tones and monophthongs, labials /p/ and /m/ and dorsal /k/. However, less expected was a pervasive glottal stop substitution in onset. The analysis describes his needs in detail but also strengths that could be exploited in phonological intervention.

Protracted phonological development of a Portuguese six-year-old from the perspective of nonlinear phonology.

As a contribution to a special issue with individual profiles in protracted phonological development (PPD), we present a European Portuguese-speaking six-year-old, "Vicente". By age six years, Portuguese-learning children have generally mastered most of the phonology. However, Vicente showed severe persisting PPD, which was negatively impacting his general socialisation. Although word length and stress often matched the adult targets as did many consonants and vowels, consonants were restricted in distribution and sequences. Consonant clusters showed a particularly high proportion of reduction. A constraints-based nonlinear phonological analysis led to a proposed intervention plan to address needs across the phonological hierarchy in the context of his greater need for enhanced socialisation: starting with the more attainable new word positions and sequences for consonants in his inventory, before addressing a major need for new word structure (clusters) and minor needs for segmental development (additional coronals).

Complexity and sequence constraints in a Granada Spanish-speaking four-year-old with protracted phonological development.

This article describes the phonology of a Granada Spanish-speaking 4-year-old boy with Protracted Phonological Development (PPD) from the perspective of constraint-based nonlinear phonology. Although he had acquired basic word structure and a near-complete repertoire of vowels and consonants, he had difficulties producing more complex word structures (multisyllabic words, clusters, diphthongs) and producing sequences of consonant manner and place features across vowels. The analysis outlines his strengths and needs in phonological development, and proposes an intervention plan to address constraints on complexity and sequences.

Interdentals to the rescue: a German four-year-old with protracted phonological development.

This paper examines the phonology of a German four-year-old with asynchronous phonological development: age-level word structure and vowels, but a restricted consonantal inventory. Both expected and unexpected developmental patterns were evident. While the absence of dorsal non-continuants and most coronal and labiodental fricatives and affricates is not unexpected in four-year-olds with PPD, less expected was his mastery of more marked /l/ and /ʁ/ and the pervasive use of ungrooved interdental fricatives (or affricates) as substitutions. Ungrooved interdentals often replace grooved fricatives and affricates, but in his system, they also replaced stops in more marked prosodic positions (unstressed initial syllables and clusters) and labiodental /f/. His case profile demonstrates the autonomy of phonological tiers (levels) but also the restrictive interactions that occur when one tier dominates, in his case, word structure. A proposed treatment plan targets new feature combinations and consonant sequences in order to address the asynchrony.

Complexity resolved: profile of a Slovenian child with protracted phonological development over an intervention period.

This paper describes the complex phonological patterns of one Slovenian-speaking girl with protracted phonological development who received phonological intervention. At 4;6, the child's word length, stress and vowels were age-level, but she showed reduced match levels (accuracy) for syllable structure and consonants. Unusual constraints on word position and sequences, particularly concerning fricatives and stops, resulted in many assimilations, reduplications and metatheses. Addressing these constraints in the first intervention period (to 4;9) led to higher overall accuracy and a transition from less typical to more typical mismatches ("errors"), e.g., sibilant grooving (stridency) and rhotic production as singletons and in clusters. The profile focuses on that initial pre- and post-treatment period, giving a brief overview of the follow-up intervention and outcomes and reflecting on implications for future research and clinical practice.11 The abstract is available in Slovenian language (see Supplementary material).

When codas trump onsets: an English-speaking child with atypical phonological development before and after intervention.

This case study presents an English-speaking preschooler with severely protracted phonological development (PPD) before and after two six-week blocks of intervention (36 sessions). Pre-treatment (3;8), he showed very low whole word, singleton consonant, vowel, and word shape matches. He had two major uncommon patterns: (1) higher accuracy for word-final consonants compared with word-initial (WI) and word-medial (WM); and (2) frequent substitution of onset consonants with glottals [h] or [ʔ]. Goals and treatment strategies were selected using a nonlinear phonological approach. Post-treatment, there was a notable decrease in frequency of glottal substitutions and concomitant increase in word shape, consonant, and vowel match. Pre- and post-treatment data are presented and discussed in terms of theoretical and clinical implications.

Uncommon timing variation in the speech of an Icelandic-speaking child with protracted phonological development.

The following paper presents an Icelandic-speaking child with protracted phonological development (PPD) over an intervention period (age 4;10 to 5;3) as a contribution to a special crosslinguistic issue describing individual profiles in PPD. Along with typical mismatch ("error") patterns, the child showed one pervasive and rare mismatch for Icelandic: compensatory lengthening of vowels when postvocalic consonant sequences reduced. Segment length is phonemic in Icelandic; thus, this pattern decreased her intelligibility considerably. A constraints-based nonlinear phonological framework served as a basis for analysis and intervention planning. Need addressed across the phonological hierarchy were: (1) accurate mapping between the timing tier (word structure level) and consonant and vowel tiers, through a focus on word-medial (WM) pre-aspirated stops; (2) onset complexity (word-initial (WI) /s/-clusters); and (3) a positional target, WI /f/. During intervention (17 sessions), she successfully produced training words for all targets. Monthly probes and a post-test at 5;3 revealed generalization to untrained words for pre-aspirated stops and labiodentals but not for /s/-clusters. Overall, compensatory vowel lengthening reduced substantially. The nonlinear analysis pointed specifically to the nature of the timing mismatches, supporting system-wide change.

Individual profiles in protracted phonological development across languages: introduction to the special issue.

Although group studies provide necessary information about the range and frequency of phenomena in phonological development, individual profiles (case studies) can be used to describe entire phonological systems in detail. Profiles from different languages can highlight similarities and differences across languages that may be less obvious in group studies. The current issue presents profiles of children with protracted phonological development (PPD: speech sound disorders) from 16 languages (Akan, Kuwaiti Arabic, Bulgarian, Canadian English, Farsi, Canadian French, German, Greek, Icelandic, Japanese, Mandarin, Polish, European Portuguese, Slovenian, Granada Spanish, Swedish). Utilising a constraints-based nonlinear phonological framework, each profile describes a child's strengths and needs in word structure, segments, features and their interactions and suggests an intervention plan. Where available, follow-up data from after clinical intervention are included. This introductory paper provides the theoretical background for the papers and reflects on the findings, drawing out particular themes and implications for phonological and developmental theories and clinical intervention.

When liquids and fricatives outrank stops: A Kuwaiti Arabic-speaking child with Down syndrome and protracted phonological development.

This paper describes the phonological system of a monolingual Kuwaiti Arabic-speaking 9-year-old girl with Down Syndrome (DS) as part of a special crosslinguistic issue presenting individual profiles of children with protracted phonological development within the framework of constraints-based nonlinear phonology. Her responses to a 100-word speech test were audio-recorded and transcribed narrowly by two native speakers. Analyses showed low accuracy for word shapes (CV sequences), primarily because of expected deletion patterns in initial weak syllables and clusters, but also reflecting inaccuracies in segment length. Vowel match was also relatively low. For consonants, she unexpectedly showed lower accuracy for stops than typically later-developing liquids and fricatives. This case study provides researchers and speech-language pathologists with broader information about expected and unexpected patterns in children with DS and protracted phonological development in general.

Experiences of genetic testing among individuals with retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP. MATERIALS AND METHODS: Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-structured guide designed to elicit participant experiences with genetic testing. A thematic analysis was performed to describe patterns in participant responses. RESULTS: Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic testing. Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination of etiology or usal gene (50%), reproductive concerns (50%), and prognostic outlook (50%). Most participants (75%) expressed satisfaction about their decision to pursue genetic testing. Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visual decline (50%). Genetic confirmation of disease leads to initiation of safety and vision-protecting health behaviors (42%). CONCLUSION: Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to identify targets for improvement in pre- and post-test education and counselling.

A Japanese 4-year-old with protracted phonological development: the challenge of coronals.

This study examines the phonology of a Japanese four-year-old with mildly protracted phonological development (PPD) as a contribution to a special crosslinguistic issue presenting individual profiles in PPD within the framework of constraint-based nonlinear phonology. Although the child's word structure and vowels were well-established, certain consonant classes presented challenges. Coronal anterior obstruents often showed posteriorization (backing): dorsal stops replaced coronal stops, and with some exceptions, alveolopalatal affricates replaced anterior fricatives and affricates. The feature [+continuant] was also not yet established: palatal and bilabial fricatives and /h/ were either deleted or replaced with glottal stop; and non-anterior affricates replaced coronal fricatives. If affricates are analyzed as a sequence of [-continuant]-[+continuant], they were possible transitional elements from non-continuants to continuants. The profile culminates with suggestions for intervention based on the nonlinear phonological analysis, consistent with other papers in this special issue.

The evolution of genetic counseling at Johns Hopkins Hospital and beyond.

In celebration of the 100th birthday of Dr. Victor A. McKusick, we look back at the history of genetic counseling at Johns Hopkins Hospital and at some milestones for the profession. With the first students graduating from the Human Genetics program at Sarah Lawrence College in 1971, the genetic counseling profession is celebrating its 50th anniversary this year. The profession has seen growth in numbers and scope of practice, the evolution of a national society, the advent of certification and accreditation, the proliferation of graduate programs, the pursuit of state licensure, and collaboration with fellow genetics professionals. Many of the early jobs were at academic centers, such as Johns Hopkins Hospital, while today counselors are employed in a multitude of settings and engaged in a variety of roles.

Consonant cluster acquisition in Chilean children with typical and protracted phonological development.

The current study addresses the acquisition of tautosyllabic consonant clusters (CCs) in Chilean preschoolers with typical (TD) versus protracted phonological development (PPD). The objectives were to analyze accuracy of CCs and mismatch (error) patterns as a function of age (4/ 5 years) and TD/PPD group, examining effects of sonority, stress, place of articulation and development of /l/ and /ɾ/ as singletons. Participants included 20 Chilean Spanish-speaking children with TD and 20 with PPD (ages 4 and 5 years). The TD group showed higher accuracy and an age effect. For both developmental groups, timing unit match was higher than full segmental match. CCs with labial and voiceless C1s in stressed syllables were most accurate. In the PPD group, deletions predominated over substitutions, deletions of C1 were significantly higher and the typology of substitutions was more differentiated. Results are evaluated in light of previous research on Chilean preschoolers, and clinical implications are discussed.

Acquisition of consonants among typically developing Akan-speaking children: A preliminary report.

PURPOSE: Although Akan is one of the most widely spoken indigenous languages in Ghana, very little is known about children's phonological development. This paper investigates the development of consonants in Akan among typically developing children aged 3-5 years. METHOD: A list of 103 Akan words was compiled, sampling the full range of prosodic structures, sound positions, features and segments, and controlling for word familiarity. A native Akan speaker audio-recorded the 103 single-word productions from each of nine typically developing children aged 3-5 years. The child productions were transcribed and analysed following procedures used in a larger cross-linguistic study. The current study presents results on the acquisition of consonants across the various ages. RESULT: Preliminary results indicate that most consonants in Akan are mastered by age 4 or 5, similar to reports for other languages, although /w/ and /l/ showed late mastery, contrary to cross-linguistic observations. The rhotic /ɹ/ and consonants with secondary articulation were still developing at age 4 and showing a variety of mismatch patterns across children. CONCLUSION: The findings provide preliminary information for developmentalists and speech-language pathologists on typical phonological development in Akan and contribute to a growing database on language acquisition in Niger-Congo languages.

Phonetic Transcription for Speech-Language Pathology in the 21st Century.

The past few decades have seen rapid changes in speech-language pathology in terms of technology, information on speech production and perception, and increasing levels of multilingualism in communities. This tutorial provides an overview of phonetic transcription for the modern world, both for work with clients, and for research and training. The authors draw on their backgrounds in phonetics, phonology and speech-language pathology, and their crosslinguistic project in the phonological acquisition of children with typical versus protracted phonological development. Challenges and solutions are presented, as well as resources for further training of students, clinicians and researchers.

Development of singleton consonants in French-speaking children with typical versus protracted phonological development: The influence of word length, word shape and stress.

PURPOSE: To provide preliminary reference data for singleton consonant development in children with typical development (TD) versus protracted phonological development (PPD) for Manitoba Canadian French, a language with an uncommon stress pattern ("iambic" or "right-headed"). Following a nonlinear perspective, singleton consonants were examined both as segments and in terms of the structure of words. Higher match levels for consonants were expected in shorter versus longer words and in stressed versus unstressed syllables. A larger effect was expected in children with PPD than those with TD. METHOD: Participants included 20 TD children and 12 with PPD aged 2 to 4 years from Manitoba, Canada. Single words were digitally recorded by trained speech-language pathologists, transcribed by native French speakers and analysed with Phon 3.0. RESULT: Friedman and Wilcoxon Signed Rank tests revealed that children with PPD had significantly more mismatches than TD children, especially in contexts of unstressed syllables in multisyllabic words. The most common mismatch ("error") patterns were consonant substitution, consonant deletion and syllable deletion. CONCLUSION: Word length and stress were found to influence consonant development within French, similar to findings in languages with left-headed or trochaic stress. Clinically, the findings underscore the relevance of considering the child's entire phonological system for identification of strengths and needs in assessment and intervention.