The relationship between vocabulary and grammar in two children with 5p deletion syndrome.

5p deletion syndrome is a rare genetic condition associated with severe speech and language problems. In general, research on speech and language skills is scarce, but there is more knowledge on phonetic and phonological skills than on lexical and grammatical skills. And till now no studies have addressed the relationship between grammar and vocabulary. Therefore, in this study, we address aspects of this relation based on longitudinal parent-reported data (MacArthur-Bates Communicative Development Inventories) from two children with this syndrome aged 2;0-7;3, and 1;11-7;1, respectively. We examine the development of the vocabulary size in each child, seen in relation to the development of grammar (inflections, combinations of words, complexity, and productivity), and see to what extent they can be compared to typically developing children. Results show that they follow a similar pattern to typically developing children but are delayed and have slightly different individual profiles.

Phonological patterns (templates) in 5p deletion syndrome.

Whole word phonological patterns (templates) in utterances produced by children with 5p deletion syndrome are analysed, addressing four questions: (1) Are children with 5p deletion syndrome able to generalise over words? (2) How does the template score of children with 5p deletion syndrome relate to those of typically developing children and of the target language? (3) How do the template scores relate to other phonological measures, PCC and consonant variegation? (4) What can the relationship between template scores and phonological measures tell us about templates? Children with 5p deletion syndrome are able to generalise over words, some to a target like extent, others generalise more than expected for their age. The template scores relate to other phonological measures, with two exceptions. The exceptions indicate that the template score of a child with articulatory difficulties may reflect more detailed representations of the words in memory than she is able to express.

Inflectional morphology in cri du chat syndrome--a case study.

This study examined morphological skills in a girl with cri du chat syndrome, addressing three questions: (1) To what extent does the subject inflect words? (2) To what extent are words inflected correctly? (3) To what extent do the inflected words reflect productive morphological rules, and to what extent can they be considered to be rote-learned? The study draws on two sources of data: a corpus of spontaneous utterances collected when the subject was 14 years old and her performance on a past tense elicitation test at 11;10 and 16;5. It was found that most inflectional forms in the nominal, verbal, pronominal and adjectival paradigms of the target language were attested in the corpus. These forms were in all but a few instances inflected correctly. The most frequent inflection errors were infinitive for present, past or past participle in verbs and wrong gender in determiners. Furthermore, performance on the elicitation test indicated some knowledge of productive inflectional rules of the target language, despite relatively poor phonetic, phonological and syntactic skills.

Lexical and gestural development in 5p deletion syndrome-A case report.

PURPOSE: Individuals with 5p deletion syndrome (also known as cri du chat syndrome) have various speech and language problems. The aim of this work was to examine early gestural and lexical development in a boy with this syndrome and to see to what extent his skills in these areas were delayed and/or deviant when compared to typically developing children. METHOD: The participant's parents completed the Norwegian adaptation of the MacArthur-Bates Communicative Development inventories (CDI) ten times over a period of five years. His scores were compared to those of typically developing infants aged eight to 20 months. RESULTS: It was found that the subject followed a considerably delayed, but not deviant, developmental trajectory in three areas, receptive vocabulary, productive vocabulary and communicative gestures, compared to typically developing infants and toddlers. CONCLUSION: The speech and language problems of individuals with 5p deletion syndrome, which have been documented in the domains of phonetics and phonology and grammar, also extend to gestural and lexical development. The findings of this study will have clinical implications for assessment, in that a broad assessment of gestural and lexical skills should be carried out as early as possible as a basis for interventions to improve communicative skills.

Grammatical constructions in Cri du chat syndrome--findings from a case study.

The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with this syndrome. This case study report describes the syntactic skills of a 14-year-old Norwegian girl with CCS. The theoretical framework is construction grammar. Data for the study were collected in a diary by the author over a period of 4 months and make up a corpus of 552 utterances. These utterances are described in terms of MLU, diversity of argument structure constructions, proportion and types of complex utterances, use of auxiliaries, as well as deviant word order patterns, types of omissions, and use of prefabricated units. The primary aim of the study is to identify strengths and weaknesses in syntactic skills, which provide the basis for future research on grammatical skills in persons with CCS.

Semi-spontaneous oral text production: measurements in clinical practice.

Functionally relevant assessment of the language production of speakers with aphasia should include assessment of connected speech production. Despite the ecological validity of everyday conversations, more controlled and monological types of texts may be easier to obtain and analyse in clinical practice. This article discusses some simple measurements for the analysis of semi-spontaneous oral text production by speakers with aphasia. Specifically, the measurements are related to the production of verbs and nouns, and the realization of different sentence types. The proposed measurements should be clinically relevant, easily applicable, and linguistically meaningful. The measurements have been applied to oral descriptions of the 'Cookie Theft' picture by eight monolingual Norwegian speakers, four with an anomic type of aphasia and four without any type of language impairment. Despite individual differences in both the clinical and the non-clinical group, most of the measurements seem to distinguish between speakers with and without aphasia.

Consonants in Cri du chat syndrome: a case study.

This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and tuning, (2) errors of coordination and sequencing, and (3) missing gestures. Also, omissions of segments were reported to be frequent. In sum, the consonant productions by this girl were found to be both delayed and deviant, as compared to normally developing children. The number of errors, however, decreased as she grew older, resulting in more accurate renditions of the target words.

Sign communication in Cri du chat syndrome.

UNLABELLED: This paper presents findings from a study on the use of sign supported Norwegian (SSN) in two individuals with Cri du chat syndrome (CCS). The study gives a first account of some selected aspects of production and intelligibility of SSN in CCS. Possible deviance in manual parameters, in particular inter- and/or intra-subject variation in the use of handshape is investigated. Second, the question is addressed to what extent the isolated signs and isolated speech are intelligible and to what extent the combination of signs and speech in SSN contributes to a better intelligibility compared to each part in isolation. Results showed inter-subject variation, as well as individual consistency of deviancy in phonetic handshape parameters. Both participants were slightly more intelligible in their sign articulation when signs and speech production were analyzed separately. Importantly, intelligibility was greatly increased when signs and speech were combined. This emphasizes the importance of SSN for facilitating communication in children with CCS. LEARNING OUTCOMES: The reader will be able to identify Signed Supported Communication as an artificial communication form, which can be used as an aid for language development in different groups of children, including children suffering from Cri du chat syndrome. The paper shows the reader to recognize that although children with Cri du chat do not produce words or signs accurately, their intelligibility can improve when they use simultaneous combinations of words and signs.

Speech and language development in cri du chat syndrome: a critical review.

This article reviews research on speech and language abilities in people with cri du chat syndrome (CCS). CCS is a rare genetic disorder, with an estimated incidence between 1 in 15,000 and 1 in 50,000 births, resulting from a deletion on the short arm of chromosome 5. In general, individuals have delayed speech and language development, and some never develop spoken language. Their receptive language is better than their expressive language, although both are delayed. Regarding phonetics and phonology, substitutions, omissions, and distortions are frequent; consonant inventories are small; syllable shapes are restricted; and vowels are variable and overlap with each other acoustically. Persons with CCS have been found to inflect words from all major word classes. Little is known about syntactic skills, but some individuals are reported to express themselves in utterances of two or more words. Knowledge about speech and language development in CCS is sparse, and the need for more research is considerable.

Past tense morphology in Cri du chat syndrome: experimental evidence.

It has been observed that persons with Cri du chat syndrome (CDCS) have poor language production. However, very few studies have addressed the question whether all aspects of language production are equally afflicted, or whether there are differences between for instance phonological and morphological abilities. The present study was aimed at investigating to what extent persons with CDCS inflect verbs, and, if so, which inflectional patterns in the target language they make use of, and further what kinds of inflectional errors they make. We compared the performance of three subjects (aged 11, 15 and 22) with CDCS on a past tense elicitation task. We found that all three subjects inflected verbs. The number of correct responses, however, varied from 28% to 53%. The majority of errors were over-generalizations, imitation of input, no response and substitution by semantically related verbs.