PROMPT to improve speech motor abilities in children with cerebral palsy: a wait-list control group trial protocol.

BACKGROUND: Children with cerebral palsy (CP) often have communication impairments, including speech altered intelligibility. Multiple levels of disrupted speech have been reported in CP, which negatively impact on participation and quality of life, with increase of care needs. Augmentative Alternative Communication (AAC) is an option, with debated benefits and limitations, in particular for its functional use. This is supported by a substantial lack of defined evidences in favor of direct speech articulation intervention in CP. Motor learning-based interventions are effective in CP and are the basis of speech motor interventions such as PROMPT (Prompts for Restructuring Oral Muscular Phonetic Targets). The PROMPT speech motor treatment provides tactile-kinesthetic inputs to facilitate articulatory movements by dynamic modelling, resulting in more efficient motor patterns that can be integrated into speech and communication. In CP, exploratory evidences support the feasibility and preliminarily advantages on intelligibility of motor speech treatments, such as PROMPT, with increased speech motor control, also documented by kinematic analyses. METHODS: A randomized waitlist-control trial will be conducted in children aged between 3- and 10-years having CP and dysarthria (estimated sample size = 60 children). Children will be allocated in the immediate intervention or in the waitlist control group. The intervention consists of an intensive 3 weeks period of twice-a-day administration of PROMPT. Standard care will be administered in the control (waitlist) group. After repeated baseline assessments (T0), the PROMPT treated group will undergo the experimental 3-week intervention period, with T1 assessment at the end. A further T2 assessment will be provided at medium term (3 months after the end of the intervention) for evaluating the stability of intervention. Primary and secondary speech clinical and kinematics outcome measures will be collected at T0, T1 and T2. DISCUSSION: This paper describes the study protocol consisting of a RCT with two main objectives: (1) to evaluate the or short-term benefits of an intensive speech motor intervention on speech and intelligibility in children with CP and the stability of the intervention at medium term; (2) to describe the kinematic correlates of speech motor control modifications. TRIAL REGISTRATION: Trial registration date 06/12/2019; ClinicalTrials.gov Identifier: NCT04189159 .

Which linguistic measures distinguish transient from persistent language problems in Late Talkers from 2 to 4 years? A study on Italian speaking children.

BACKGROUND: In spite of the large literature on Late Talkers (LTs) it's still unclear which factors predict outcome in children younger than 3 years old. AIMS: To identify the early language characteristics of LTs whose outcome was either a transient delay or a Developmental Language Disorder (DLD). METHODS AND PROCEDURES: 50 LTs were assessed both by indirect and direct measures of expressive and receptive language at three time points between 2 and 4 years of age. OUTCOMES AND RESULTS: At the first evaluation, all LTs had an expressive language delay; 61% also had delayed early syntactic comprehension. Three different linguistic outcomes emerged: children who caught up with their peers ("Late Bloomers") at age 3; children with slow language recovery ("Slow Learners") at age 4 and children at risk of DLD. The linguistic measures that differentiated the groups changed with age. By 28 months, impaired syntactic comprehension differentiated children at risk of DLD at 4 years of age, from the other two groups. By 36 months, the discrepancy between vocabulary size and age was larger in children with persistent language difficulties compared to both "Late Bloomers" and "Slow Learners". Expressive grammar differentiated the groups significantly by age 3 with difficulties in this domain still persisting in children with DLD at age 4. CONCLUSIONS: An early syntactic comprehension delay was a predictive index of DLD in LTs, suggesting the importance of evaluating this language component when assessing LT toddlers. IMPLICATIONS: LTs with receptive-expressive language delay around 24-30 months could benefit from an early language intervention.

[Etiological, clinical and neuroradiological investigation of deaf children with additional neuropsychiatric disabilities]. / Sordita complicata nel bambino: correlati eziologici, clinici e neuroradiologici.

AIM: Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness. METHODS: Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI. RESULTS: Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI. CONCLUSION: Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

We describe the clinical and molecular features of a child harboring a novel mutation in SLC6A8 gene in association with a milder phenotype than other creatine transporter (CT1) deficient patients (OMIM 300352) [1-7]. The mutation c.757 G>C p.G253R in exon 4 of SLC6A8 was hemizygous in the child, aged 6 years and 6 months, who showed mild intellectual disability with severe speech and language delay. His carrier mother had borderline intellectual functioning. Although the neurochemical and biochemical parameters were fully consistent with those reported in the literature for subjects with CT1 deficit, in our patient within a general cognitive disability, a discrepancy between nonverbal and verbal skills was observed, confirming the peculiar vulnerability of language development under brain Cr depletion.

Language organisation in left perinatal stroke.

Right-hemispheric organisation of language has been observed following early left-sided brain lesions. The role of the site of damage is still controversial, as other aspects influence the pattern of speech organisation including timing of the lesion and the presence of epilepsy. We studied a group of 10 term-born children homogeneous for timing/type of lesion and clinical picture. All subjects had left perinatal arterial stroke, right hemiplegia, normal cognitive functions and no or easily controlled epileptic seizures. In half the patients, the lesion clearly involved Broca's area, in the other half it was remote from it. Language lateralization was explored by an fMRI covert rhyme generation task. Eight of 10 subjects showed a right lateralisation of language, including all five patients with a damaged left Broca and 3/5 of those without it. Group analysis in patients with right hemispheric organisation showed brain activations homotopic to those found in the left hemisphere of a matched control group. Our findings confirm that, at the end of gestation, the human brain exhibits extraordinary (re-)organisational capabilities. Language organisation in the right hemisphere is favoured by the presence of destructive lesions of the left Broca's area at birth, and occurs in brain regions homotopic to those usually involved in language processing.

Acquired focal brain lesions in childhood: effects on development and reorganization of language.

In the present paper, we address brain-behaviour relationships in children with acquired aphasia, by reviewing some recent studies on the effects of focal brain lesions on language development. Timing of the lesion, in terms of its occurrence, before or after the onset of speech and language acquisition, may be a major factor determining language outcome. However, it is still unclear which are the effects of aphasia occurring between 2 and 5 years of age, a time window which is crucial for acquiring and automatizing the basic rules of native language. A comprehensive review of the literature on acquired childhood aphasia precedes the description of long-term follow-up (20 years) of two identical twins, one of whom became aphasic at 3 years and 4 months after infarction of the left sylvian artery. Psycholinguistic analysis and fMRI data show a slow and incomplete recovery from non-fluent aphasia associated to an intra-hemispheric organization of language. These data, which support the potential but also the limits of neural plasticity during language development, are discussed in the light of the literature on the time-course and neural bases of acquired childhood aphasia.

Brain representation of phonological processing in Italian: individual variability and behavioural correlates.

Neuroimaging literature on phonological processing during reading lacks of studies taking into account orthographic differences across languages and behavioural variability across subjects. The present study aimed at investigating brain representation of phonological processing in reading Italian, a language with regular orthography, with particular regard to inter-individual variability and brain-behavioural correlates. Ten Italian adults performed a rhyme generation and a rhyme judgment task during fMRI acquisition and were tested with behavioural measures of phonological processing. Results for both tasks showed activations of the left Inferior Frontal Gyrus and Dorsolateral Prefrontal Cortex, likely underlying output sublexical strategies, for all or most of the subjects, while a minority of subjects activated the Superior Temporal Sulcus and the Temporo-Parietal-Occipital Junction. These results suggest that phonological processing of written Italian is based on the prevalent use of frontal structures. However, it is of interest that the activation of the Superior Temporal Sulcus, involved in phonological input, was associated to better behavioural performances in tasks of phonological processing. Our findings may contribute to understand neural correlates of phonological processing of languages with regular orthography.

Atypical language lateralization and early linguistic development in children with focal brain lesions.

The effects of congenital, unilateral, focal brain lesions on early linguistic development and hemispheric lateralization for language were investigated longitudinally in 24 preschool children with hemiplegia (14 males, 10 females), 12 with left hemisphere damage (LHD) and 12 with right hemisphere damage (RHD). A comprehensive linguistic assessment was performed at 2 and 3 years of life; cerebral lateralization for language was measured by the Fused Dichotic Words Listening Test. An early left-side specificity for language was indicated by the presence of lexical and grammatical delay in most children with LHD. In the dichotic listening test all 12 children with LHD showed a shift of language lateralization from the left to the right hemisphere. Atypical lateralization coefficients (lambda), i.e. values falling more than two standard deviations from the mean of a normative sample, were associated with a delay in lexical and grammatical development, especially after LHD. In addition, cortical-subcortical-periventricular lesions rather than solely periventricular damage, and larger lesions rather than small, were associated with the most atypical lateralization coefficients, irrespective of lesion side. Results of this study suggest that language and lateralization data are closely related and that reallocation of language functions in alternative regions of the brain has a cost in terms of a slow rate of language acquisition.

Early cognitive and communication development in children with focal brain lesions.

Early cognitive and language development of children with congenital focal brain lesions, documented by magnetic resonance imaging, was studied in 18 cases, 9 with left-hemisphere damage and 9 with right-hemisphere damage, at about 2 (Time 1) and 4 years of age (Time 2). All of the children showed normal cognitive development, but their global Griffiths Developmental Scales scores were lower at Time 2, and developmental profiles across individual subscales revealed side-specific effects, resembling the adult left/right cerebral hemisphere lesion model. Expressive lexicon and grammar were delayed, more often in left-hemisphere-damaged than in right-hemisphere-damaged children, at Time 1 and Time 2. Functional findings were not related to the size and location of the brain lesion, whereas the presence of epilepsy was a highly significant predictor of cognitive and language outcome, irrespective of the side of the lesion. The stable disadvantage in the verbal domain shown by left-hemisphere-damaged children within the age range of this study might suggest that the left hemisphere has some initial bias for language learning. The effects of right-hemisphere damage were more variable and emerged at a later stage of language development.

The italian determiner system in normal acquisition, specific language impairment, and childhood aphasia.

The paper presents a comparison of the development of the Italian determiner system in three different populations: normally developing children, a child recovering from childhood aphasia from the age of 3 years, 9 months, and 11 specific language impairment (SLI) children. Data from Italian normal children provide evidence for the hypothesis (1) that no prefunctional stage exists as far as the determiner system is concerned and (2) that the syntactic properties of determiners play an essential triggering role early on. The analysis of the determiner system in the aphasic child has a double interest. On the one hand, it may help to shed light on some of the intriguing questions concerning this type of disorder; on the other, it may be relevant for the discussion of the notion of agrammatism. Results of the morphosyntactic analysis reveal that, apart from timing differences, recovery from childhood aphasia shares important features with normal development. Differently from mean length of utterance (MLU)-matched normal controls and the aphasic child, SLI children omit determiners significantly more often than almost any other functional category or free morpheme. We will argue that the reasons for the SLI children's atypical behavior have to be sought in the nonaccessibility to or in the misappreciation of one fundamental syntactic property of determiners: their role as elements that assign argumenthood to nominal expressions (Szabolcsi, 1987; Longobardi, 1994).

del (9p) syndrome: proposed behavior phenotype.

Over recent years interest in the study of behavior phenotypes has gained increasing momentum. We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 in all three, with the breakpoint being located at band 9p22. Although several studies have described the somatic phenotype, analytical evaluation of verbal and non-verbal cognitive functions are lacking. Our patients received a detailed neuropsychological and linguistic evaluation that showed a particular behavior profile, in the context of mental retardation of variable degree. On selective tests there was a marked deficit in visuo-praxic and visuo-spatial skills associated with memory disturbance. Visuo-motor integration abilities [VMI; Beery, 1997] and visuo-perceptual and visuo-spatial abilities [Benton line orientation test, 1992] seemed particularly impaired, both in relation to verbal mental age (vocabulary and grammatical production/comprehension) and to some non-verbal competencies [Benton face recognition test, 1992]. The profile shows advanced performances in face recognition. In addition, there is also a dissociation between verbal and visuo-spatial short term memory. This behavior phenotype is similar to that of Williams syndrome (WS) individuals. Our patients also showed some unusual within-domain dissociations regarding linguistic abilities. To better demonstrate similarities and differences between the behavior phenotypes of the del (9p22) syndrome and WS, we studied three IQ-gender-matched WS subjects. The comparison between the cognitive phenotypes of the two syndromes shows similarities in neuropsychological pattern. We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here.

Plasticity and reorganization during language development in children with early brain injury.

Although some studies have reported subtle language deficits following early focal brain lesions (EFBL), most studies find no evidence for differential language outcomes as a function of lesion side or lesion type in children with congenital injuries to one side of the brain. However, recent prospective studies of the first stages of language development in English-speaking children with EFBL have reported greater delays in expressive vocabulary in children with left-hemisphere damage, particularly if the lesion involves left temporal cortex. In the present study, first stages in the development of word production were studied in 43 Italian children with congenital EFBL, between 13 and 46 months of age. As a group, the EFBL children were markedly delayed in expressive vocabulary. Among children who were in the first stage of language learning, delays were significantly greater with left-hemisphere injury. However, this left-right difference was not evident in children who had moved on to the next stage of language development, producing at least some sentences. Discussion centers on the role of developmental plasticity in determining the outcomes of early focal brain injury, suggesting that recovery from initial delays may take place in the early stages of language development, at least for some children.

[Symptomatological patterns of infancy diseases. Presentation of a new Symptom Checklist]. / Pattern sintomatologici nei disturbi della prima infanzia. Presentazione di una nuova Symptom Checklist.

BACKGROUND: Recently it is often very frequent a request of specialist consultation for children with psychic discomfort expressed through somatic complaints and/or behavior disorders. The real meaning of these symptoms in terms of prognosis, is not clear; indeed they can be the first signs of a poor prognosis of developmental disorders or a transient developmental crisis. The objective of this study is the evaluation of a Symptom Checklist as an instrument which allows to point out the somatic complaints and the behavior disorders of Italian children aged less than 48 months and to identify symptoms patterns which label the main neurological and psychiatric diseases in that age. METHODS: The Symptom Checklist has been used transversely in a clinical sample of 30 subjects (24 males and 6 females) aged less than 48 months with developmental linguistic disorder, born prematurely or with a developmental pervasive disorder and in a control sample of 37 children (21 males and 16 females). RESULTS AND CONCLUSIONS: The results obtained, matching every single group to each other and every single group to the control group, identify symptoms pattern (somatic or behavioral) specific for each clinical condition examined; therefore, the clinical utility of Symptom Checklist in pointing out in infancy psychiatric risk cases for a poor prognosis is confirmed.

A longitudinal perspective on the study of specific language impairment: the long-term follow-up of an Italian child.

Most of the literature on children with specific language impairment (SLI) is centred on the study of cross-sectional samples and little is known on how language develops in these children--that is, whether it occurs along steps and modes analogous to those observed in normal acquisition, the only difference being significant slowness, or following rather idiosyncratic courses leading to atypical results. This paper presents findings from a longitudinal study of the acquisition of formal aspects of Italian grammar in a child with severe SLI of the so-called phonologic-syntactic subtype or grammatical SLI. The analysis concerns a set of morphosyntactic phenomena sufficiently differentiated in terms of both grammatical properties and modes of acquisition in normal development, so as to offer a panorama that approximates to what can be thought of as an overall morphosyntactic competence: (1) free morphology (prepositions, clitics and articles); (2) bound morphology (verb inflection); (3) WH movement (questions and relative clauses) and (4) the evolution of complex sentences. These phenomena will be dealt with in four independent studies. This paper argues that each domain or even each sub-domain presents its own set of properties, some of which are common to other domains but some of which are not. The results reveal the existence of important dissociations among the various domains and even within specific sub-domains. These dissociations may be ascribed to deficits affecting specific properties of functors or constructions. The picture that emerges is one in which the deficit involves, rather than morphology in the strict sense of a bare set of paradigmatic forms, some properties or components of syntax which are involved in the use, not only of certain morphemes, but of certain extended syntactic constructions as well. This result will be checked against the most widely held current theoretical approaches to SLI.

Neuropsychological assessment of a case of early right hemiplegia: qualitative and quantitative analysis.

Evidence for normal development of linguistic but poor visuo-perceptual skills has been obtained with the neuropsychological assessment of a case of early left-brain injury. Data suggest the transfer of linguistic functions from the left to the right hemisphere at the expense of visuo-perceptual capacities for which the right hemisphere is potentially specialized.