Corso di Laurea magistrale
(ordinamento ex D.M. 270/2004)
in Scienze del Linguaggio
Tesi di Laurea
Specific Language Impairment in a
8-year-old girl with Trisomy X:
speech and language analysis
before and after language
intervention
RelatriceCh. Prof.ssa Anna Cardinaletti Correlatore
Ch. Prof. Claudio Giuseppe Luzzatti
Laureanda Natascha Lantschner Matricola 842622 Anno Accademico 2016 / 2017
Table of contents
Introduction 1 Chapter 1 – The state of the art about Trisomy X 4 1.1 Introduction 4 1.2 Physical characteristics 5 1.3 Genetic characteristics and diagnosis 8 1.3.1 Etiology 8 1.3.2 Chromosomal working principles in 46,XX and 47,XXX subjects 9 1.3.3 Diagnosis 9 1.3.4 The maternal effect 11 1.3.5 Recurrence risk 12 1.4. Cognitive and psychological characteristics 12 1.5. Linguistic characteristics 15 1.6. Overview 16 Chapter 2 – The participant 18 2.1 The anamnesis 18 2.2 3rd August 2015: a report by the speech therapist 18 2.3 12th July 2016: a report by the speech therapist 21 2.4 2nd November 2017: a clinical report by the neuropsychiatrist 22 2.5 Overview 23 Chapter 3 – First analysis run through standardised tests 24 3.1 Introduction 24 3.2 The assessment of comprehension 25 3.2.1 TCGB Grammatical comprehension test for children (Chilosi and Cipriani, 1995/2006)25
3.2.1.2 The results of the first administration 27 3.2.2 TROG-2 test (Bishop, 2009) 28 3.2.2.1 The test 28 3.2.2.2 The results of the first administration 30 3.2.3 PPVT Peabody test (Stella, Pizzoli & Tressoldi, 2000) 32 3.2.3.1 The test 32 3.2.3.2 The results of the first administration 32 3.2.4 TOR test (Levorato & Roch, 2007) 33 3.2.4.1 The test 33 3.2.4.2 The results of the first administration 33 3.3 The assessment of oral production 34 3.3.1 The bus story (Renfrew, 1991) 34 3.3.1.1 The test 34 3.3.1.2 The administration of the test 35 3.3.1.3 The results of the first administration 37 3.4 The assessment of repetition 41 3.4.1 Repetition of non-words (Bisiacchi et al., 2005) 41 3.4.1.1 The test 41 3.4.1.2 The results of the first administration 41 3.5 The assessment of the memory capacities 42 3.5.1 Memory capacities tests (Bisiacchi et al., 2005) 43 3.5.1.1 The tests 43 3.5.1.2 The results of the first administration 43 3.6 The assessment of the auditory discrimination capacities 44 3.6.1 Auditory discrimination test (Bisiacchi et al., 2005) 44 3.6.1.1 The test 44 3.6.1.2 The results of the first administration 44 Chapter 4 - First analysis run through non-standardised tests 46 4.1 Introduction 46
4.2 Tests for the assessment of comprehension 47 4.2.1 The comprehension of passive clauses 47 4.2.1.1 Passive clauses in Italian 47 4.2.1.2 The picture selection task (Verin, 2010) 48 4.2.1.3 The results of the first administration 49 4.2.2 The comprehension of relative clauses 50 4.2.2.1 Relative clauses in Italian 50 4.2.2.2 The agent selection task (Volpato, 2010) 51 4.2.2.3 The results of the first administration 52 4.2.3 The influence of number features in the comprehension of complex structures in italian 55 4.2.3.1 The test (Frugarello, 2013) 56 4.2.3.2 The adaptation of the test for children 57 4.2.3.3 The results of the first administration 57 4.2.4 The comprehension of cleft sentences 58 4.2.4.1 Cleft sentences in Italian 58 4.2.4.2 The test 59 4.2.4.3 The results of the first administration 60 4.3 Tests for the assessment of oral production 61 4.3.1 The production of clitic pronouns 61 4.3.1.1 Clitic pronouns in Italian 61 4.3.1.2 Clitic elicitation task (Arosio et al., 2014) 62 4.3.1.3 The results of the first administration 62 4.3.2 The production of Italian Wh-Questions 65 4.3.2.1 Wh-Questions in Italian 65 4.3.2.2 The elicited production of Wh-Questions (Guasti et al., 2012) 65 4.3.2.3 The results of the first administration 66 4.4 Test for the assessment of repetition 68 4.4.1 Sentence repetition test 68 4.4.1.1 The test 68
4.4.1.2 The results of the first administration 70 4.4.1.3 General observation 73 4.5 Tests of grammaticality judgement 73 4.5.1 Grammatical judgement of sentences with and without articles 73 4.5.1.1 The test 73 4.5.1.2 The results of the first administration 74 4.5.2 Grammatical judgement of sentences with and without prepositions 74 4.5.2.1 The test 74 4.5.2.2 The results of the first administration 75 4.6 Segno-nome test (Cagnin, 2017) 75 4.6.1 The test 75 4.6.2 The results of the first administration 76 Chapter 5 – Language intervention on functional words: a program based on language awareness 78 5.1 Introduction 78 5.2 The first sessions: observation 78 5.3 Methodology 80 5.3.1 The “holes” metaphor 80 5.3.2 Intervention on article omissions 82 5.3.3 Intervention on preposition omissions 83 5.3.4 The support of visual materials 84 5.3.5 The use of body movement 86 5.3.6 Activity: The daily routine 86 5.3.7 Activity: Multiple choice 87 5.3.8 The support of the Italian Sign Language 88 5.3.9 The meaningfulness of functional words through minimal pairs 88 5.3.10 Activity: Put the words in order to form a sentence 91 5.3.11 Written production 92
5.3.12 Activity: Mixed words 94 5.3.13 Una storia: la vita di un fiore (A story: the life of a flower) 95 5.3.14 An introduction to syntax 97 5.3.15 The introduction of complex prepositions strictly related to verbs: entrare in (go in) and uscire da (come out of) 98 5.3.16 Geistesblitz: eliciting the production of prepositions playing a game 100 5.4 Conclusion 100 Chapter 6 – Second administration of standardized tests 102 6.1 Introduction 102 6.2 Tests for the assessment of comprehension 103 6.2.1 TCGB Grammatical comprehension test for children (Chilosi and Cipriani, 1995/2006) 103 6.2.2 TROG-2 test (Bishop, 2009) 105 6.2.3 PPVT Peabody test (Stella, Pizzoli & Tressoldi, 2000) 106 6.2.4 TOR test (Levorato & Roch, 2007) 107 6.3 The assessment of oral production 108 6.3.1 The bus story (Renfrew, 1991) 108 6.4 The assessment of repetition 110 6.4.1 Repetition of non-words (Bisiacchi et al., 2005) 110 6.5 The assessment of the memory capacities 111 6.5.1 Memory capacities tests (Bisiacchi et al., 2005) 111 6.6 The assessment of the auditory discrimination capacities 112 6.6.1 Auditory discrimination test (Bisiacchi et al., 2005) 112 Chapter 7 – Second administration of non-standardised tests 114 7.1 Introduction 114 7.2 The assessment of comprehension 115 7.2.1 The comprehension of passive clauses 115 7.2.2 The comprehension of relative clauses 115
7.2.3 The influence of number features in the comprehension of complex structures 120 7.2.4 The comprehension of cleft sentences 121 7.3 The assessment of oral production 123 7.3.1 The production of clitic pronouns 123 7.3.2 The production of Wh-Questions 125 7.4 The assessment of repetition 127 7.4.1 Sentence repetition test 127 7.5 Grammaticality judgement 131 7.5.1 Grammatical judgement of sentences with and without articles 131 7.5.2 Grammatical judgement of sentences with and without prepositions 132 7.6 Segno-nome test 132 7.6.1 Segno-nome test (Cagnin, 2017) 133 Chapter 8 – The analysis of Emma’s oral production 134 8.1 Introduction 134 8.2 The characteristics of noun phrases and agreement 134 8.3 The characteristics of verbal phrases 136 8.3.1 Verbal inflection 136 8.3.2 Optional agreement between the past participle and the object 139 8.4 Cases of wrong declination of nominative and accusative pronouns 141 8.5 The use of protomorphemes 142 8.5.1 The use of protomorphemes instead of prepositions 142 8.5.2 The use of protomorphemes instead of the complementizer che 143 8.6 Clitic pronouns 144 8.7 The production of interrogatives 147 8.7.1 The production of Yes/No interrogatives 147 8.7.2 The production of Wh-Questions 147 8.8 Post-verbal subjects 149 8.9 The production of relative clauses 149
8.10 The position of adverbs 150 Chapter 9 - Discussion 153 Conclusion 162 References 164 Appendix A – Answers in the first and second administration 186 A1. TCGB Grammatical comprehension test for children (Chilosi and Cipriani, 1995/2006) 186 A2. TROG-2 test (Bishop, 2009) 189 A3. Memory capacities tests (Bisiacchi et al., 2005) 193 A3.1 Verbal working memory: forward digit span 193 A3.2 Verbal working memory: backward digit span 193 A3.3 Visuo-spatial working memory: Corsi test 193 A3.4 Free reiteration of words 194 A4. Auditory discrimination test (Bisiacchi et al., 2005) 196 A5. The comprehension of passive clauses in Italian: The picture selection task (Verin, 2010) 198 A6. The comprehension of Italian relative clauses: The agent selection task (Volpato, 2010) 200
A7. The influence of number features in the comprehension of complex structures in Italian (Frugarello, 2013) 203 A8. The comprehension of Italian cleft sentences: the picture selection task 207 A9. Sentence repetition test 210 A10. Grammatical judgement of sentences with and without articles 212 A11. Grammatical judgement of sentences with and without prepositions 214 Appendix B – Language intervention materials 216
B1. Session 6.03.2017 216 B2. Session 20.03.2017 218 B3. Session 22.03.2017 219 B4. Session 3.05.2017 224 B5. Session 29.05.2017 227 B6. Session 5.07.2017 229 B7. Session 12.07.2017 232 B8. Session 19.07.2017 233 B9. Session 26.07.2017 234 B10. Session 26.09.2017 235 B11. Session 28.09.2017 236 B12. Session 3.10.2017 237 Appendix C – Transcriptions of oral productions 238 C1. Transcriptions 2.03.2017 238 C2. Transcriptions 6.03.2017 242 C3. Transcriptions 13.03.2017 247 C4. Transcriptions 15.03.2017 249 C5. Transcriptions 20.03.2017 258 C6. Transcriptions 22.03.2017 267 C7. Transcriptions 27.03.2017 274 C8. Transcriptions 29.03.2017 275 C9. Transcriptions 3.04.2017 281 C10. Transcriptions 10.04.2017 284 C11. Transcriptions 12.04.2017 302 C12. Transcriptions 3.05.2017 309 C13. Transcriptions 15.05.2017 318 C14. Transcriptions 17.05.2017 345 C15. Transcriptions 24.05.2017 355 C16. Transcriptions 29.05.2017 366
C17. Transcriptions 31.05.2017 398 C18. Transcriptions 19.06.2017 412 C19. Transcriptions 5.10.2017 417 C20. Transcriptions 26.10.2017 418 C21. Transcriptions 14.11.2017 423 C22. Transcriptions 5.12.2017 428
Table of tables
Table 1.1 Physical features of subjects with Trisomy X (Tartaglia et al. 2010) 6 Table 3.1 The standardised tests administered 24 Table 3.2 The results of the first administration of the TCGB (Chilosi & Cipriani, 1995) 27 Table 3.3 The results of the first administration of the TROG-2 (Bishop, 2009) 30 Table 3.4 The transcription of the first administration of the Bus story 38 Table 3.5 Production of articles in the first administration of the Bus story (Renfrew, 1991) 40 Table 3.6 The results of the first administration of the test of non-words repetition (Bisiacchi et al., 2005) 41 Table 3.7 The first administration of the test of non-words repetition (Bisiacchi et al., 2005) 42 Table 3.8 The results of the first administration of the Memory capacities tests (Bisiacchi et al., 2005) 43 Table 3.9 Errors committed in the first administration of the Auditory discrimination test (Bisiacchi et al., 2005) 45 Table 4.1 The non-standardised tests administered 46 Table 4.2 Examples of stimuli and sentence types of the test of comprehension of relative clauses (Volpato, 2010) 51 Table 4.3 Accuracy in the first administration of the test of comprehension of relative clauses (Volpato, 2010) 53Table 4.4 Error analysis in the first administration of the test of comprehension of relative clauses (Volpato, 2010) 55 Table 4.5 Accuracy in the first administration of the test by Frugarello (2013) 57 Table 4.6 Accuracy in the first administration of the test of comprehension of cleft sentences 60
Table 4.7 Answers produced in the first administration of the elicited production of clitic pronouns (Arosio et al., 2014)
63
Table 4.8 Percentages of occurrences of strategies used in first administration of the elicited production of clitic pronouns (Arosio et al., 2014)
64
Table 4.9 Transcriptions of the answers in the first administration of the elicited production of Wh-Questions (Guasti et al., 2012) 67 Table 4.10 Simple sentences produced in the first administration of the sentence repetition task 71 Table 4.11 Coordinate sentences produced in the first administration of the sentence repetition task 71
Table 4.12 Complex sentences with left dislocation of the object and resumptive pronoun produced in the first administration of the sentence repetition task
72
Table 4.13 Cleft sentences produced in the first administration of the sentence repetition task 72 Table 4.14 Complex Wh-Questions produced in the first administration of the sentence repetition task 73 Table 4.15 Results of the first administration of the Segno-nome test (Cagnin, 2017) 76 Table 6.1 The standardised tests: first and second administration 102 Table 6.2 Results of first and second administration of the TCGB (Chilosi & Cipriani, 1995) 103 Table 6.3 The results of the first and the second administration of the TROG-2 test (Bishop, 2009) 106 Table 6.4 The results of the first and the second administration of the PPVT (Stella, Pizzoli & Tressoldi, 2000) 107 Table 6.5 The results of the first and the second administration of the TOR test (Levorato & Roch, 2007) 107
Table 6.6 The production of definite and indefinite articles in the first and the second administration of the Bus story (Renfrew, 1991)
109
Table 6.7 The results of the first and the second administration of the repetition of non-words (Bisiacchi et al., 2005)
110
Table 6.8 The first and the second administration of the repetition of non-words (Bisiacchi et al., 2005)
110
Table 6.9 The results of the first and the second administration of the Memory capacities tests (Bisiacchi et al., 2005)
112
Table 6.10 The results of the first and the second administration of the Auditory discrimination test (Bisiacchi et al., 2005) 113 Table 6.11 Recurrent errors in the first and the second administration of the Auditory discrimination test (Bisiacchi et al., 2005) 113 Table 7.1 The first and the second administration of the non-standardised tests 114 Table 7.2 The accuracy in the first and the second administration of the test of comprehension of relative clauses (Volpato, 2010) 116 Table 7.3 The accuracy in subject and object relative clauses in the second administration 117 Table 7.4 The accuracy in match and mismatch condition of number features in the second administration 117 Table 7.5 Error analysis in the second administration of the test of comprehension of relative clauses (Volpato, 2010) 117 Table 7.6 Comparison between first and second administration: accuracy in subject and object relative clauses 119 Table 7.7 Comparison between first and second administration: accuracy in match and mismatch condition of number features 119
Table 7.8 Comparison between first and second administration: error analysis
120
Table 7.9 Comparison between the results of the first and the second administration of the test by Frugarello (2013)
Table 7.10 The results of the first and the second administration of the test of comprehension of cleft sentences 122 Table 7.11 Accuracy in subject and object cleft sentences in the first and the second administration 122
Table 7.12 Percentages of occurrences of strategies used in second administration of the elicited production of clitic pronouns (Arosio et al., 2014)
123
Table 7.13 Comparison between the first and the second administration: occurrence of strategies
124
Table 7.14 Answers produced in the second administration of the elicited production of clitic pronouns (Arosio et al., 2014)
124
Table 7.15 Transcriptions of the answers in the second administration of the elicited production of Wh-Questions (Guasti et al., 2012)
126
Table 7.16 Simple sentences produced in the second administration of the sentence repetition task 127 Table 7.17 Coordinate clauses produced in the second administration of the sentence repetition task 128 Table 7.18 Complex sentences with left dislocation of the object and resumptive pronoun produced in the second administration of the sentence repetition task 129 Table 7.19 Subject and object cleft sentences produced in the second administration of the sentence repetition task 129 Table 7.20 Complex Wh-Questions produced in the second administration of the sentence repetition task 129 Table 7.21 Complex Relatives produced in the second administration of the sentence repetition task 130 Table 7.22 The results of the first and the second administration of the Segno-nome test (Cagnin, 2017) 133 Table 9 The production of articles pre- and post-language intervention 160
Introduction
This study discusses the case of a girl aged 8;0, called Emma for convenience, affected by Trisomy X and focuses on the characteristics of the severe Expressive Language Impairment (diagnosis code F80.1, 2018 ICD-10-CM) which she has been diagnosed. In literature, many scholars report a strong relationship between the chromosomic anomaly Trisomy X and the emergence of a Specific Language Impairment or a language delay (Garvey & Mutton, 1973; Pennington et al., 1980; Netley et al., 1982; Bender et al., 1983; Netley, 1983; Bishop, 1987; Linden et al., 1988; Otter et al., 2010; Tartaglia et al., 2010; Simpson et al., 2014). The aim for this thesis is twofold: the detailed analysis of Emma’s linguistic competence and the discussion of the tailor-made language intervention submitted to her. Data have been collected in the Department of Child Neuropsychiatry of the ULSS 3 Serenissima in Venice. The project lasted 9 months. Language assessment has been conducted using standardised and non-standardised linguistic tests. The former have been made available by the team of the Child Neuropsychiatry ward. During assessment, Emma’s competence has also been analysed through different tasks which examined her ability in comprehension, oral production, repetition, and her capacity to give grammaticality judgements. After the first evaluation of her linguistic and cognitive competences, Emma has been involved in a project of language intervention, which has focused on functional words, in particular on articles and prepositions, which she systematically omitted. The intervention has been conducted using the help of the written language and visual materials such as pictures. The crucial support, however, has been represented by Italian Sign Language. A certain number of signs of the Italian Sign Language have been introduced in association with a selected number of prepositions. Such a strategy allowed the girl to produce those prepositions. By means of signs, the lexical retrieval, which seemed to be one of the main deficits for Emma, has been successfully boosted. After six months, another assessment of her linguistic competence has been conducted. The main result regards the production of articles, which has increased significantly.
The work has been divided into eight chapters.
In the first chapter, the state of the art about the Trisomy X will be discussed. After a general introduction, the attention will be focused on the physical, cognitive and psychological characteristics of subjects affected by the syndrome. Finally, a brief discussion about the linguistic characteristics will be provided.
In the second chapter, the participant of the case study will be introduced. The information collected from the clinicians will be presented: the anamnesis, the linguistic and communicative development in the previous years as described in the speech therapist’s reports.
In the third chapter, the first evaluation of the linguistic competence of the girl run through the administration of standardised tests will be presented. The tests adopted will be described and the results of the first administration will be discussed.
The fourth chapter deals with the first linguistic evaluation run through the administration of non-standardised tests. The contribute of these tests is to give an accurate assessment of Emma’s competence of complex structures of Italian, which is relevant also in view of the language intervention.
In the fifth chapter, the language intervention will be introduced. First, the period of observation will be presented, in order to clarify the reason why the intervention has been planned as it was. Then, the methodology and the metaphor adopted will be described, also focusing on the activities proposed to reach the objectives previously established.
In the sixth chapter, the second evaluation of the linguistic competences of the girl through standardised tests will be provided and the comparison between the results of the two administrations will be discussed.
The seventh chapter deals with the second evaluation of Emma’s linguistic competence through non-standardised tests. The results of the second administration will be discussed also taking into account those obtained in the previous one.
Finally, in the eighth chapter, some spontaneous oral productions by Emma, collected during the whole project, will be discussed. They will be explained and justified, also
taking into consideration the influence of the Venetian dialect on Emma’s linguistic productions.
Chapter 1
The state of the art about Trisomy X
1.1 Introduction
Trisomy X is one of the Sex Chromosome Anomalies, which impacts on the number and nature of chromosomes within cells. In particular, it is characterized by the presence of an extra X chromosome in females and it is the most common female chromosomal abnormality (Tartaglia et al. 2010). Bishop et al. (2010) claim that Sex Chromosome Trisomies are found in 2.3-3.7 per 1,000 same-sex births. Trisomy X is also known as 47,XXX, Triple X or Triplo-X syndrome.Trisomy X was first diagnosed in 1959 by Patricia Jacobs, a Scottish genetist at the Southampton University. She studied the case of a 35-year-old woman who presented premature ovarian failure (POF) when she was 19 and whose parents were both over 40 at the time of her conception (Jacobs et al. 1959). Jacobs gave the females affected by the syndrome the name of “Superfemales”. This term, however, was never accepted by the clinical community and was criticized. The Oxford English Dictionary suggested the term that we are currently using. Female children affected by Trisomy X present an extra X chromosome in their cells as a result of a nondisjunction during meiosis. In literature, many scientists talk about cases of mosaicism, in which part of the cells of the child are composed of two X chromosomes and the others of three X chromosomes. In these cases, some cells present a normal karyotype (46,XX) and the others the typical Trisomy X karyotype (47,XXX). There can be also mosaicisms that manifest in combinations such as 46,XX/47,XXX or 47,XXX/48,XXXX, or in combinations including Turner syndrome cell lines such as 45,X/47,XXX or 45,X/46,XX/47,XXX (Tartaglia et al. 2010).
Women with Trisomy X will be influenced by the syndrome as much as the amount of cells characterised by 47,XXX will be. Literature reports that this Sex Chromosome Trisomy appears in about one in every 1,000 female births and that the probability of
giving birth to female children with Trisomy X increase proportionally as mother’s age increases. The syndrome is not hereditary: there are no data that give evidence for the presence of the genetic anomaly running through families.
There is considerable variation in the manifestation of the syndrome, indeed some subjects are deeply affected, while others only mildly.
Literature reports various manifestations of the syndrome. However, we can consider physical, genetical, cognitive, psychological, and linguistic characteristics separately. Taking into account the physical aspects, females born with Trisomy X are taller than average, they will manifest microcephaly and epicanthal folds. In some cases, clinodactyly, decreased muscle tone, irregular menstrual cycle, premature ovarian failure (POF), renal impairments, and convulsion crisis (Tartaglia et al. 2010). Residual data report infertility.
As far as the cognitive functions are concerned, the syndrome can manifest with either mental retardation or specific language impairment but also with a delay in the acquisition of the motor functions. From a psychological point of view, literature reports higher rates of attention deficits, mood disorders and other problems related to the social cognitive sphere. Trisomy X can be diagnosed with a prenatal screening, that is amniocentesis or with chorionic villus sampling. After birth, it can be found through blood tests that examine the karyotype.
In most cases, females with Trisomy X are never diagnosed, because no symptoms emerge that can bring to further specific exams to investigate. Tartaglia et al. (2010) report that only 10% of subjects affected by Trisomy X are actually diagnosed. In order to clarify the state of the art about Trisomy X, a brief summary of what literature says will be presented below.
1.2 Physical characteristics
In their review on the syndrome, Tartaglia et al. (2010) report that in most of the cases there are no striking physical features linked with Trisomy X. However, they describe minor physical characteristics that can be found in subjects with 47,XXX, such as epicanthal folds, hypertelorism, upslanting palpebral fissures, clinodactyly, overlapping digits, pes planus and pectus excavantum. Linden et al. (1988) also talk about hypotonia and joint hyperextensibility. Those physical features that were found relevant are set out below in Table 1.1 reported in Tartaglia et al. (2010). Table 1.1 – Physical features of subjects with Trisomy X (Tartaglia et al. 2010) While at birth weight and length are usually normal, stature typically increases in early childhood and in adolescence 80-89% of girls are at or above 75th percentile for height (Linden et al. 1988). There have been cases of females affected by the syndrome who were ascertained due to tall stature as in Liebezeit et al. (2003). Ratcliffe et al. (1990), however, state that there can be cases whose height is <50th percentile. Ratcliffe et al. (1994) describe a specific physical pattern associated with the 47,XXX syndrome reporting that females affected by it are often characterised by long legs and short sitting height. Webber et al. (1982) discuss the bone age of subjects with Sex
Feature Estimated frequency based on current available data Tall stature >75th percentile 80-89% Epicanthal folds 32-46% Clinodactyly 42-65% Hypotonia in infancy 55-71% Genitourinary malformations 5-16% Seizure disorder 11-15% Intention tremor 6-20% Congenital hip dysplasia 2-12% Constipation/Abdominal pains 12-45% Premature ovarian failure unknown
Chromosome Anomalies and conclude that there is no significant difference between females with 46,XXX and females with 47,XXX. As for microcephaly, Robinson et al. (1978) report that this manifestation is rare and appear in <5th percentile. Later, Ratcliffe et al. (1994) confirm these data. Literature report various other physical disturbances associated with Trisomy X such as genitourinary abnormalities (Lin et al. 1993), congenital heart defects (Murrain et al. 2008; Hagerman 1999; Chudley et al. 1990), seizure disorders (Grosso et al. 2004; Tartaglia 2009; Roubertie et al. 2006; Olanders et al. 1975), EEG abnormalities and finally gastrointestinal problems (Robinson et al. 1990; Linden et al. 1988). Generally the pubertal onset and the sexual development in females with 47,XXX occur as in subjects non affected by the syndrome, but cases of ovarian or uterine dysgenesis are known in literature regarding children or young adults with the syndrome (Tartaglia et al. 2010). Regarding Premature Ovarian Failure (POF), Villanueva et al. (1983), Michalak et al. (1983) and Linden et al. (1988) discuss about this manifestation of the syndrome. Tungphaisal et al. (1992) describe the first reported case of 47,XXX syndrome in Thailand, which is indeed described in a patient with premature ovarian failure (POF). Holland (2001) report the case of an adolescent affected by premature ovarian failure and autoimmune disease, which is another pattern often quoted in literature. Goswami et al. (2003) carry out a study which investigates the genetic condition of females with Premature Ovarian Failure and what results report is that 3% of these women are affected by 47,XXX.
As for motor skills deficit, a delay in starting walking has already been mentioned, but literature report other deficits, in particular decreased muscle tone and lack of coordination (Linden et al. 1988; Salbenblatt et al. 1989).
Patwardhan et al. (2002) found that in subjects affected by 47,XXX the volume of cerebral mass is reduced if compared to the non-affected females, but the most interesting result is that the amygdala in 47,XXX females has a reduced size if compared to 46,XX females. Warwick et al. (1999) discuss the correlation between reduced volumes of cerebral mass and bad scores in cognitive functions tests.
Also Lenroot et al. (2014) talk about the volume and mass of grey and white matter in females with Trisomy X. The total grey and white matter in these subject is 8% less than
average. However, lateral ventricles volume is 50% more. This study highlights the fact that the presence of an extra X chromosome is associated with reduced masses and volumes both of white and grey matter. This is true for all the cerebral regions, except for the parietal area. The authors expect a minor volume of cerebral matter, but the difference of volume between grey and white matter is the news. White matter is lesser than grey matter, even keeping into consideration that both are less if compared to the control group. As for the cerebral cortex, results show that there are areas in which the cortex is thinner and others in which it is thicker. Thinner cortex can be found in temporal lateral lobes and this would be able to explain their problems in language and in processing auditory information, as observed in Bishop et al (2010). The new findings are that thicker cortex is present in the prefrontal medial and temporal medial cortex. This area is near to the amygdala, which is important for the social cognition and is strictly connected to anxiety. These observations give evidence for the fact that adolescent females with 47,XXX present difficulties in handling social relationships and anxiety. As for the prefrontal medial cortex, this area is known to be associated with social cognitive functions.
1.3 Genetic characteristics and diagnosis
1.3.1 EtiologyWhat causes 47,XXX syndrome is an event of nondisjunction, during which the X chromosome is not able to separate appropriately during the cell division either during gametogenesis or after conception. In the first case, it is called trisomic conceptus and in the second one post-zygotic nondisjunction. Hassold et al. (2007) and Hall et al. (2006) found that in 58-63% of the cases, the extra X chromosome derives from maternal meiosis I errors, in 16-17.4% of cases from maternal meiosis II errors, and in 18-19.6% of cases from post-zygotic nondisjunction.
1.3.2 Chromosomal working principles in 46,XX and 47,XXX subjects
Cooke and Smith (1986) explain that only one X chromosome in each cell is genetically active in typical 46,XXX females. The other one X chromosome is inactivated through DNA methylation and the accumulation of a histone variant throughout the chromosome, as in Ng et al. (2007). There is an X chromosome inactivation centre (XIC), which controls the X-inactivation, which occurs early in blastogenesis. The XIC counts the X chromosomes present and randomly inactivates all but one X chromosome per diploid set. This randomly selected X chromosome silences itself by expressing the XIST and Tsix genes. Since the pseudosomal regions of the X chromosome, called PAR1 and PAR2, have Y chromosome homologs, they are not inactivated and remain genetically active (Vogt 1997; Cooke and Smith 1986). Besides, 5-10% of additional genes on the X chromosome but outside the PAR area escape X-inactivation. What occurs in case of females with Trisomy X is that two of the three X chromosomes are not active, but there are other genes (those in the PAR regions and those which are in other areas) that escape X-inactivation and therefore are expressed from the three X chromosomes. Geschwind et al. (2000), Rappold (1993) and Linden et al. (1995) hypothesize that Trisomy X is the result of an overexpression of these genes on the X chromosome that escapes X-inactivation. Even though the specific group of genes involved in the phenotype of Trisomy X has not been identified yet, Sudbrak et al. (2001) demonstrate that there is some microarray evidence of overexpression of X chromosome genes in cells lines with the extra X chromosomes. The exception is represented by the SHOX gene. Rao et al. (1997) and Ottesen et al. (2010) explain that this gene, which escapes X-inactivation, is associated with the short stature seen in Turner syndrome and the tall stature in supernumerary sex chromosome aneuploidy cases, such as Trisomy X. 1.3.3 Diagnosis
The standard test to diagnose the syndrome is the karyotype analysis of peripheral blood. In case of prenatal diagnosis, Trisomy X can be found with an amniocentesis or
with the chorionic villus sampling procedure (CVS). Tartaglia et al. (2010) recommend after birth analysis, in order to identify cases of mosaicism. It is particularly important in cases of mosaicism with Turner syndrome (47,XXX/45,X), because in order to intervene clinically, it is necessary to recognize the existence of the Turner syndrome in the karyotype.
Tartaglia et al. (2010) report the cases in which females are recommended to run a karyotype analysis: • Developmental delays (speech and/or motor) • Hypotonia • Hypertelorism • Epicanthal folds • Clinodactyly • Tall stature • Premature Ovarian Failure/Primary Ovarian Insufficiency • Learning Disability • Intellectual disability • Attention deficits • Hyperactivity disorders (ADHD) • Anxiety, mood disorders or other psychiatric symptoms Hagerman (1999) points out that behavioural and developmental symptoms of females with 47,XXX are often similar to those of females affected by Fragile X. Therefore, it is important to evaluate all the possible syndromes associated with specific manifestations.
Some studies have compared Trisomy X with other genetic syndromes. Females affected by Tetrasomy X or Pentasomy X usually have more significant developmental delays and more evident physical characteristics, which are not so visible in Trisomy X (Hagerman 1999; Linden et al. 1995). Ottesen et al. (2010), add that females with Pentasomy X are characterised by short stature, in contrast with what is expected for females with 47,XXX.
Warwick et al. (1999) state that couples, after the diagnosis, should be informed about the high frequency of Trisomy X (1 in 1,000 female births), in order to help them to accept the syndrome and to understand that their case is not isolated, that in many cases females affected by 47,XXX go undiagnosed because of absence of symptoms and finally they should be well conscious about the fact that there is no predetermined outcome for this kind of diagnosis. There are studies about the rates of pregnancy termination in case of prenatal diagnosis of Trisomy X. Brun et al. (2004) and Shaffer et al. (2006) are the most recent reports regarding the elective termination rates. The authors specify that rates vary by location of the study, however, their reports from U.S. and France show a range from 25-40%. Robinson et al. (1992) and Sybert (2002) demonstrate that females diagnosed during the prenatal period had better developmental and educational outcomes if compared to females diagnosed after birth. Nielsen and Wohlert (1990) report that it is estimated that only 10% of cases are actually diagnosed. They also recommend a postnatal karyotyping test in order to investigate the characteristics of the syndrome in every individual case. Postnatal analysis can also help to find out cases of mosaicism, which can appear in 10% of cases. Furthermore, a follow-up postnatal exam can clarify the situation and have a positive impact on the medical intervention and on its management. Bender et al. (1990) report an interesting result regarding the cases of mosaicism: they demonstrate that there are better outcomes in cases of mosaicism 46,XX/47,XXX than in cases of pure 47,XXX. Finally, Robinson et al. (1992) and Linden & Bender (2002) show that after a prenatal diagnosis of 47,XXX, there is 99% of possibilities of fetal survival. 1.3.4 The maternal age effect
In line with what is known about the other trisomies, there is evidence that 47,XXX trisomy has a statistically significant correlation with advancing maternal age. After all, the likelihood of nondisjunction events during meiosis increase with increasing maternal age.
Wallerstein et al. (2004) however demonstrate no significant age-dependent correlation in a case of mosaic Trisomy X (such as 45,X/47,XXX). The authors suggest that cases of mosaicism would derive from a post-zygotic nondisjunction. In Gardner et al. (2011) there is evidence for a significant maternal age effect and the authors report an increasing risk specific for Trisomy X of 1/2500 births at a maternal age of 33 to 1/450 live births at a maternal age of 43. 1.3.5 Recurrence risk Tartaglia et al. (2010) say that the transmission of X aneuploidy, which means an extra or a missing X chromosome, from women with Trisomy X is rare. Hook (1992) however reports evidence for this kind of hereditary transmission. Ratcliffe (1999) and Neri and Opitz (1984) report a risk of <5% of chromosome abnormality offspring, and more recent studies talk about a risk of <1% (Tartaglia et al. 2010). Meschede and Horst (1997) and Hook (1983) state that the recurrence risk is <1% and therefore the syndrome should not be considered hereditary. For this reason, parents of females affected by Trisomy X are not usually karyotyped. Ratcliffe (1999), Neri e Opitz (1984) and Dewhurst (1978) state that these rates apply only for females with non-mosaic 47,XXX, because cases of mosaicism are to be considered separately due to different kinds of outcomes.
1.4 Cognitive and psychological characteristics
If we take into account the psychological dimension, Tartaglia et al. (2010) highlight the high variation in the population of 47,XXX females. There can be subjects with 47,XXX with minimal involvement, but there can be patients with important clinical problems related to the psychological domain. Cognitive skills can be measured with the IQ subscales, which may reveal mental retardation, distinguishing verbal and nonverbal capacities. In the population of subjects with Trisomy X there is a high variability also in terms of cognitive capacities, indeed there can be found children or adults with normal
IQ, but also with IQ above or under range. Many studies in literature discuss this variability in terms of cognitive skills within the population of 47,XXX females and there is evidence for the variation of the IQ level between 55 and 115 (Bender et al. 1983; Pennington et al. 1980; Geschwind et al. 2000; Pennington et al. 1983; Pennington et al. 1982; Robinson et al. 1978; Bender et al. 2001). Generally, it can be said that cognitive deficits and learning disabilities appear more frequently in 47,XXX subjects than in the typical development population or when compared to sibling controls (Bender et al. 1990). What can be seen is that cognitive capacities measurement more often reveals deficits in verbal IQ, rather than in nonverbal IQ. However, many patients have cognitive difficulties both in verbal and in nonverbal cognitive domains (Ratcliffe 1999; Pennington et al. 1980; Pennington et al. 1982; Bender et al. 1989; Netley 1986). Tartaglia et al. (2010) quote Bender et al. (1986), who represented the distribution of IQ levels in subjects with Trisomy X compared to controls as in Figure 1.1. Even though the majority of females with 47,XXX have normal IQ level, a larger percentage of females with 47,XXX are in the intellectual disability range if compared to controls. Following this line, Woodhouse et al. (1992) state that the medium IQ level in females with 47,XXX is 85-90. Figure 1.1 The distribution of IQ levels in subjects with Trisomy X compared to controls (Bender et al., 1986)
Bishop et al. (2010) conduct a study about the relationship between chromosome anomalies and autistic spectrum disorders. Their sample include children who had a prenatal diagnosis of Sex Chromosome Trisomy. Results confirm the high risk of Specific Language Impairments for children with Sex Chromosome Trisomies in general. Besides, while children with Trisomy XXY and XYY have high probability to develop autistic spectrum disorders, there is no such evidence for females affected by Trisomy XXX. To
summarise, female children with Trisomy X probably develop Specific Language Impairment, but not disorders linked with autism. The psychological aspect is further debated in Lenroot et al (2014). The authors compare their experimental sample of females diagnosed 47,XXX with the control sample. Their results mention data collected during the anamnesis with parents; 83% of subjects with 47,XXX received a diagnosis of mental retardation or language delay, 51% of them report language delay and/or motor function development delay, and finally 77% of them could benefit from some kind of special education. Linden et al. (1988) and Bender et al. (1995) discuss the high frequency of occurrence of disturbances such as anxiety and depression in females affected by 47,XXX.
This evidence can be also found in the study by Lenroot et al. (2014), in which the authors say that female children with 47,XXX have high levels of many kinds of psychopathologies and in most of the cases they deal with ADHD, anxiety and depression.
Lenroot et al (2014) report that 40% of the participants to their study have or have had psychological disorders linked with anxiety, particularly Separation Anxiety, Social Phobia and/or Generalised Anxiety. In 17% of participants, besides, they find inattentive ADHD disturbance. Lenroot et al (2014) conclude highlighting how the presence of an extra X chromosome can have an impact in the development of specific cerebral regions and how this can be connected to the behavioural and cognitive dimension of subjects with this syndrome. It seems then clear that the syndrome does not manifest evidently from a physical point of view, but has a great impact on cognitive and emotional capacities of subjects affected by it. Other studies speak more generally about mental health disorders associated with this kind of syndrome (Linden et al. 1988; DeLisi et al. 1994; Woodhouse et al. 1992; Kusumi et al. 1973; Otter et al. 2010). Disturbances linked with ADHD, attention deficits and executive functions disorders are also mentioned in Pennington et al. (1980) and Bender et al. (1993).
1.5 Linguistic characteristics
As for the linguistic outcomes of subjects affected by Trisomy X, a brief summary of the literature follows. Garvey and Mutton (1973) report that all the cases of children with sex chromosome anomalies present severe expressive language disorders, but preserved linguistic comprehension. This pattern – difficulties in expressive language and preserved linguistic comprehension – is often described in the literature. Pennington et al. (1980) carried out an in-depth study of Trisomy X. Their sample consisted in 11 female adolescents affected by the Trisomy. The authors highlight a meaningful correlation: those who present language impairments are the same that had started walking and talking late. Those who, in adolescence, do not present language impairment had shown normal development in early childhood. This study also compares female adolescent with 47,XXX with subjects affected by other anomalies. What comes to light is that in females with 45,X and in males with 47,XXY it is possible to identify specific verbal and non-verbal cognitive deficit. This regularity cannot be found in the population of 47,XXX females. In Netley et al. (1982) children with 47,XXX and 47,XXY are described. In particular, the authors describe their cognitive deficit, which affects only the verbal dimension, leaving preserved the non-verbal dimension. They highlight a language impairment through the administration of a sentence verification task. As in Pennington et al. (1980), also Netley et al. (1982) expose the link between the late beginning in walking and talking and the language impairment that emerge in adolescence. In some way, an atypical motor development would be a predictor of Specific Language Impairment. Bender et al. (1983) confirm what said up until then, pointing out that the major disturbance that female children with Trisomy X must face are auditory perception problems, together with language impairment that affects both expression and reception. Data described by Bender et al. (1983) and Netley (1983) are also confirmed by Bishop (1987). Tartaglia et al. (2010) talk about delay in speech capacities and report that expressive language is more impaired than receptive language. Variation is an important factor also in this domain, indeed there are cases in which subjects with 47,XXX are not at all impaired, but also cases in which dyspraxia
appears and both expressive and receptive language are damaged. Language impairment can continue throughout childhood into adulthood, manifesting through difficulties in language processing, verbal fluency, language comprehension, and pragmatic language, as reported in Pennington et al. (1980), Bender et al. (1983) and Linden et al. (1988). Linden et al. (1988) say that the average age for walking is 16.2 months and for first words is 18.5 months, which are data that are partially far from those collected in typical development children, even though the range for walking is 11-22 months and for first words is 12-40 months. In Otter et al. (2010) the onset of language impairment as a result of a chromosome anomaly is described. In this study, 19 of 41 females diagnosed 47,XXX present a delay in expressive and receptive language. The point stated by the authors is that this delay in language competence, which emerges early in childhood, persists in adolescence and adulthood. The authors highlight that this delay could possibly be the cause of the difficulties that females affected by 47,XXX develop in their social relationships, because indeed the two factors are deeply linked one with the other.
Simpson et al. (2014) carry out research on a group of subjects with Specific Language Impairment. Their aim was to find out how many of them have a non-diagnosed chromosome anomaly. Their results state that the percentages of subjects with Specific Language Impairment and non-diagnosed chromosome anomaly are so high that they recommend earlier genetic screening to spot cases at risk of Specific Language Impairment.
1.6 Overview
Tartaglia et al. (2010) conclude their paper stating that there are many unresolved questions about Trisomy X and claiming the necessity of further research in this field. Further studies are needed in order to help the clinical community to be able to intervene successfully in case of females with 47,XXX. However, research is needed also in the psychological and linguistic fields. The aim of the following chapters is indeed to describe a case of a girl with Trisomy X, focusing on her Specific Language Impairment,
which is an aspect strictly connected to the psychological domain and to communication.
Chapter 2
The participant
When I met Emma for the first time, she was 8 years old. She is exposed to both Italian and the Venetian dialect. Her parents are native speakers of the dialect.
2.1 The anamnesis
In spring 2012, after the first neuropsychiatric evaluation, the neuropsychiatrist reports the results of the anamnesis of the case of Emma (3;3 at that time). Her parents tell that the development of Emma seems to be average, except for the linguistic competence, which is delayed. They do not give information about the babbling stage. Many authors in literature have found that there is a strong relationship between the quality of babbling in children and their language development (Oller, 1976; Locke, 1983; Stoel-Gammon, 1985). Her parents do not report the period of Emma’s first words. When she was 0;9, she had an episode of febrile convulsions. Emma reached the control of her diurnal sphincter when she was 1, while she had not yet the control of the nocturnal sphincter. They also report that Emma is affected by the sex chromosome abnormality called Triple X syndrome. She has a brother who is 7 and does not present disturbances. At home, they speak the Venetian dialect. The neuropsychiatrist also reports the results of the phoniatric examination dated May 2012, which are average. The first evaluation by the speech therapist is requested by the Neuropsychiatrist in May 2012.2.2 3
rdAugust 2015: a report by the speech therapist
When first assessed by the speech therapist (May 2012), Emma is 3;3 and attends the first year at the kindergarten. The specialist reports good linguistic comprehension, adequate oral praxis, but extremely poor oral production especially in terms of
phonological and lexical competence. She has a vocabulary composed of 16 words.1 The specialist reports good communicative intention and the use of strategies such as the use of gestures and eye contact. When not understood, Emma renounces to communicate.
After the first evaluation, a treatment from June 2012 until July 2013 with the speech therapist has been planned. During this period, Emma develops her vocabulary, however, she calls the animals using their sounds, which is not expected considering her chronological age. The production of onomatopoeic sounds is expected at an earlier age, 10-12 months. In November 2012, Emma positions herself below the 10th percentile in the TCGB Test for Grammatical Comprehension for Children (Chilosi and Cipriani, 1995). In January 2013, the results of the PPVT Peabody Test (Stella et al.,2000) position her performance at -1 SD. The results of the articulatory examination (Fanzago, 1983) describe a poor competence in this domain with 6% of words correctly produced. In May 2013, the speech therapist reports a IQ level of 126 in the Leiter-R (Roid & Miller, 1997), which means that her cognitive capacities are preserved.
In June 2013, Emma positions herself between the 10th and the 25th percentile in the
TCGB Test for Grammatical Comprehension for Children (Chilosi and Cipriani, 1995), performing better than in November 2012. In the same period, at the age of 4;4, she produces the first sentences. The speech therapist reports Example (2.1).
(2.1) Mi a cacao a cafa Me has cocoa at home “I have cocoa at home”
In November 2013, at 4;9 Emma performs better in the articulatory examination (Fanzago, 1983) with a result of 12% of words correctly produced. Her syllabic structure is not developed completely and she still produces CV syllables (consonant-vowel
1 Camaioni & Di Blasio (1978) report that already at 12-16 months, children have a vocabulary composed of 50 words. In Sabbadini et al. (2005), the authors present a series of risk factors which can be
predictors of Specific Language Impairment. Among them, they report a reduced vocabulary, which means less than 20 words at 18 months and less than 50 words at 24 months.
syllables). This means that, for example oca is pronounced by Emma as coca. The speech therapist reports, however, that Emma has developed a stronger communicative intention, which stimulates her to produce language.
From October 2014 - Emma is 5;9 - and June 2015, the third treatment is organised. The speech therapist presents among their objectives the introduction to reading and writing – objective which will be realized only from February 2017. In the TVL - Test di Valutazione del Linguaggio 2,5 - 6 anni (Cianchetti, Sannio & Fancello, 1997) Emma presents a performance on average in the linguistic comprehension of words and sentences. However, she positions herself highly below average in the sentence repetition task, in the denomination task, in the phonological, morphological and syntactic tests. The specialist reports that Emma has a deep phonological deficit: she pronounces fole for sole (sun), popo for topo (mouse), pakkia for gabbia (cage) and vala for lava (washes). She presents also poor competence in the formation of sentences. The medium length of utterance is 3.5 words – the average expected for her age is 5.5. She does not produce subordinate clauses. The speech therapist report Example (2.2) produced by Emma. (2.2) Gatto mio gianni piatto nero Cat my Gianni dish black “My cat and Gianni have a black dish” In March 2014, the performance of Emma in the TFL Test Fono-Lessicale (Vicari et al., 2007) is at the 50th percentile in comprehension and, by contrast, between the 5th and the 10th percentile in production.
In July and August 2015, when Emma is 6;5, another evaluation is carried out. The speech therapist says that Emma has improved from a phonological point of view and indeed the phoneme /r/ has been produced.2 The results of the articulatory capacities examination (Fanzago, 1983) describe an improvement in the phonetic domain, indeed Emma produces correctly the 41.5% of words. However, her way of speaking can be hard to understand for a stranger. From the morphological and syntactic point of view, 2 Bortolini (1995) reports that at the age of 4, more than 80% of children has this phoneme in their phonemic inventory.
in a sentence repetition task, Emma omits articles and prepositions when the sentence is formed by more than three lexical elements. She often omits the verb and when she produces it, she has problems in the conjugation. For example, she uses a 3rd person singular verb with a 3rd person plural subject. When she is asked to repeat the sentence Maria dà il gelato al bambino, she produces the sentence reported in Example (2.3). (2.3) Maria bambino gelato Mary child ice-cream “Mary gives the ice-cream to the child” In the Peabody test, she performs average. In the CMF – Test di valutazione Competenze Metafonologiche 5-11 anni (Marotta, 2008), Emma positions herself below the 5th percentile in the test of syllabic synthesis and in the discrimination of minimum pairs of non-words.
Emma is described as a lively child, enthusiastic to take part in the school activities. She has good capacities of relationships with adults and of symbolic playing. She renounces if she is not understood, but she tries to tell her experiences. Her weakness is the oral production, with the main deficits in the phonological, morphological and syntactic domains.
2.3 12
thJuly 2016: a report by the speech therapist
The speech therapist reports that Emma is described by her teachers as a lively child who tries to create positive relationships with her peers at school. She has good communicative intentions. However, her oral production is extremely poor and in some cases incomprehensible. If she does not find words to express their meanings, she uses gestures, body movements or drawings. She seems to be more determined to successfully communicate. She knows her friends’ names, but she does not remember her teachers’ names. She likes going to school and doing didactic activities.
In the TVL - Test di Valutazione del Linguaggio 2,5 - 6 anni (Cianchetti & Fancello, 1997), she performs average in the comprehension of nouns, adjectives, spatial concepts and simple sentences. In the narrative task, when Emma produces simple and isolated SVO
sentences, she may conjugate the verb and produce few articles. In the spontaneous oral production, she omits functional words and does not conjugate verbs correctly. In the articulatory examination (Fanzago, 1983) she produces correctly 50.8% of words. In the sentence repetition task (Devescovi & Caselli, 2001) she systematically omits functional words. She produces infinitival verbs, 3rd person singular verbs, or past
participles. When she is asked to repeat the sentence La bambina apre la finestra, she produces the sentence in Example (2.4).
(2.4) Ba’mina peta fe’nèta Child opened window
“The child opened the window”
In the PPVT Peabody test (Stella et al., 2000), she reaches a standard score of 79 (average: 100), therefore her receptive vocabulary is poor. The level of passive vocabulary seems to have decreased. The grammatical comprehension is preserved.
2.4 2
ndNovember 2017: a clinical report by the Neuropsychiatrist
In this report, the specialist refers a diagnosis of severe Expressive language disorder (diagnosis code F80.1, 2018 ICD-10-CM). Emma has never presented problems with communicative intentions and has always activated alternative strategies to successfully communicate. She does not renounce when she finds it hard to express her meanings. In her oral production, articles and prepositions are omitted and the verbs are often not conjugated. She has a deep phonological deficit, which makes her language often incomprehensible. She demonstrates a good comprehension of lexical items, spatial concepts and simple sentences. However, the specialist highlights a deficit in the morphological and syntactic dimension. Indeed, Emma does not have a good performance in the comprehension of inflexional morphemes and in the computation of gender and number features. A severe deficit in the verbal working memory emerges in the neuropsychiatric evaluation. She has a maximum span of three. The specialist hypothesises that this deficit could possibly be at the basis of her language impairment.
Emma maintains a good cognitive level. The specialist adds that the competence developed in reading and writing can be useful to reinforce her oral language.
2.5 Overview
Data collected from the case sheet compiled by the team of the Child Neuropsichiatry ward of the ULSS 3 Serenissima highlight that the linguistic competences of Emma are in general below average if her chronological age is considered. The results of the tests administered, however, reveal that language acquisition is in progress, even though it is delayed and slower if compared to that of children with typical development. Observing the results obtained through the repetition of the administration of the test of articulatory capacities (Fanzago, 1983), it is possible to say that the articulatory capacities of Emma are developing. Moreover, the fact that she has begun producing sentences and phrases - even if they are not always correct - is evidence for a development in her language competence. This general framework allows us to expect further improvements in Emma’s language and to plan a tailor-made language intervention with the aim of promoting and enhance her communicative and linguistic competence.
Chapter 3
First analysis of language run through standardised tests
3.1 Introduction
In this chapter, the first assessment of the linguistic competence of Emma carried on through the administration of standardised linguistic tests will be presented. The aim of the evaluation was to describe her language and the main characteristics of her Specific Language Impairment. The standardised linguistic tests have been made available by the team of the Child Neuropsychiatry of ULSS 3 Serenissima in Venice. These tests give the opportunity to evaluate the performance of Emma comparing it with data collected on control samples. It is possible to estimate her linguistic age, for example, and this kind of information are useful for language therapy. Informed consent was collected from Emma’s parents prior to testing. In the following sections the tests adopted will be described and the results of the first administration will be discussed. The tests will be presented, as it can be seen in Table 3.1, divided into five parts: the assessment of comprehension, of oral production, of repetition, of the memory capacities and of the auditory discrimination capacities. TEST First administration The assessment of comprehension TCGB (Grammatical comprehension test for children) 29.03.2017 TROG-2 test 15.05.2017 Peabody test (PPVT) 3.04.2017 TOR test 10.04.2017 The assessment of oral production Bus story 10.04.2017 The assessment of repetitionNon-words repetition test 10.05.2017 The assessment of the memory capacities Working memory capacities tests 3.04.2017 The assessment of the auditive discrimination capacity Auditory discrimination capacities test 10.05.2017 Table 3.1 The standardised tests administered
3.2 The assessment of comprehension
3.2.1 TCGB Grammatical comprehension test for children (Chilosi and Cipriani, 1995/2006) 3.2.1.1 The test The TCGB is a test for the assessment of grammatical comprehension. It is standardised for children between 3;6 and 8;0 years and contains 76 stimuli that have the aim of assessing the comprehension of complex structures such as sentences with locatives, nominal and verbal inflections, active and passive affirmative sentences, negative passives, relatives and datives. Examples of the structures contained in the test are reported below. Examples of sentences with locatives: (3.1) La palla è sotto il tavolo “The ball is under the table” (3.2) La palla è tra il tavolo e la sedia “The ball is between the table and the chair” Examples of sentences and phrases with nominal and verbal inflection: (3.3) Sedie “Chairs” (3.4) Camminano “They walk”
(3.5) Il loro cane “Their dog” Example of active affirmative sentence: (3.6) Il bambino spinge la bambina “The boy pushes the girl” Example of active negative sentence: (3.7) Il bambino non spinge la bambina “The boy does not push the girl” Examples of affirmative passives: (3.8) La mamma è presa in braccio dal bambino “The mother is held by the child” (3.9) Il cane è rincorso dal gatto “The dog is chased by the cat” Example of a relative sentence: (3.10) Il bambino rincorre la bambina che è in bicicletta “The boy chases the girl who goes by bike” Example of a dative sentence: (3.11) Il cane porta il maiale alla pecora “The dog brings the pig to the sheep” Chilosi et al. (1995) report a table in which the age of acquisition of each grammatical structure is presented. Taking into consideration the data collected by them, it is possible to evaluate the performance of the tested subject, with regard to each structure assessed in the test. During the administration, the experimenter reads the stimuli and asks the tested subject to choose one out of the four pictures that they can see on the corresponding table. Each table contains four images, one is the correct answer and the others are distractors: one is a grammatical distractor, while the other two contain meanings possibly linked to the item proposed. Every error is counted 0,5 error points; if the subject, after repetition, commits the error again, the error is counted 1,5 error points.
3.2.1.2 The results of the first administration
In the first administration of the TCGB, considering her chronological age, Emma positions herself under the 10th percentile. She got an error score of 7, committing 10
errors. Her linguistic age is 6;0 and therefore, a linguistic delay of 2 years can be hypothesised. In general, the distribution of errors is homogeneous in Locatives, Affirmative and Negative passives, Relatives and Datives. The number of errors, however, is particularly high in the items of the nominal and verbal inflection. Structures Error scores Locatives 0,5 Nominal and verbal inflection 4 Affirmative actives Negative actives Affirmative passives 0,5 Negative passives 0,5 Relatives 0,5 Datives 1 Total error score 7 Table 3.2 The results of the first administration of the TCGB (Chilosi & Cipriani, 1995)
Analysing the errors committed by Emma, the most damaged structures are those containing verbal inflection, while nominal inflection is preserved. In 75% of cases, the girl chooses the pictures which contain grammatical distractors and this gives further evidence for the hypothesis that her language problem is grammatical in nature and not lexical. It must be said, anyhow, that her performance in receptive vocabulary is not excellent. However, it can also be hypothesised that her poor competence in some
structures with verbal inflection, contained in the test, which are Example (3.4) and (3.12),
(3.12) Vola “It flies”
can be the result of the interference with the Venetian dialect, in which the third person singular and the third person plural have the same form. There are no errors in affirmative and negative active sentences. 3.2.2 TROG-2 test (Bishop, 2009) 3.2.2.1 The test The TROG-2 is a test for the assessment of grammatical comprehension in children and adults. It is standardised for subjects from the age of 4 years. Bishop (2009) developed it for clinical reasons, in order to have an instrument for evaluating the comprehension of grammatical structures. It is indeed difficult to evaluate this specific ability. When comprehension is taken into consideration, it is not easy to separate cognitive and linguistic abilities. When someone is asked to understand a linguistic message, they activate a series of mechanisms of verbal comprehension that involves cognitive and linguistic strategies but also all those pieces of information that they collect from the context. As Suraniti et al. (2009) report, linguistic comprehension can be influenced by many factors, such as: § limited knowledge of the meaning of words § poor auditory discrimination capacity § poor verbal memory § grammatical problems § problems in the elaboration of linguistic messages § difficulties in doing inferences § poor social cognition and poor sensitivity for non-verbal information.
