Anna Maria Chilosi

Università di Pisa | UNIPI · DEVELOPMENTAL NEUROSCIENCE

Childhood apraxia of speech (CAS) is a subtype of motor speech disorder usually co-occurring with language impairment. A supramodal processing difficulty, involving executive functions (EFs), might contribute to the cognitive endophenotypes and behavioral manifestations. The present study aimed to profile the EFs in CAS, investigating the relations...

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...

Background Childhood Apraxia of Speech is a severe and persistent clinical subtype of Speech Sound Disorder. Given the difficulties in the acquisition, programming and control of the movements underlying speech and the slowdown in a wide range of non-linguistic skills, the difficulty in implicit learning of sequential information could play a role...

Childhood apraxia of speech (CAS) is a motor speech disorder often co-occurring with language impairment and complex neurodevelopmental disorders. A cohort of 106 children with CAS associated to other neurodevelopmental disorders underwent a multidimensional investigation of speech and language profiles, chromosome microarray analysis and structura...

Developmental language disorder (DLD) is a neurodevelopmental condition, occurring in about 3% to 7% of preschoolers, that can impair communication and negatively impact educational and social attainments, in spite of adequate neurological, cognitive, emotional, social development, and educational opportunities for language learning. Significant ri...

We report a case series of children with childhood apraxia of speech, by describing behavioral and white matter microstructural changes following 2 different treatment approaches. Five children with childhood apraxia of speech were assigned to a motor speech treatment (PROMPT) and 5 to a language, nonspeech oral motor treatment. Speech assessment a...

Pre-term spastic diplegia (pSD) due to periventricular leukomalacia is a form of cerebral palsy in which weaknesses in executive functions are reported beyond the core visuo-spatial deficits. The study aimed at improving executive functioning and visuo-spatial skills with an evidence-based training focused on working memory in children with pSD. Th...

Open Access: https://www.tandfonline.com/doi/full/10.1080/02699206.2020.1853811 Phoneme production may be affected by limited speech motor control in Childhood Apraxia of Speech (CAS), with a general instability of acoustic targets across multiple repetitions of speech stimuli. This acoustic and Ultrasound Tongue Imaging (UTI) study shows that incr...

Autism Spectrum Disorder (ASD) and Childhood Apraxia of Speech (CAS) are developmental disorders with distinct diagnostic criteria and different epidemiology. However, a common genetic background as well as overlapping clinical features between ASD and CAS have been recently reported. To date, brain structural language-related abnormalities have be...

Language deficits represent one of the most relevant factors that determine the clinical phenotype of children with autism spectrum disorder (ASD). The main aim of the research was to study the grammatical comprehension of children with ASD. A sample of 70 well-diagnosed children (60 boys and 10 girls; aged 4.9–8 years) were prospectively recruited...

Background: The literature reports a significant association between sleep disorders and learning disabilities. Nevertheless, not all children with learning disorders have sleep alterations, and which sleep characteristics are associated with which learning difficulty is still unknown. The study aimed at acquiring new information on the relation b...

Agreement is a morphosyntactic dependency which is sensitive to the hierarchical structure of the clause and is constrained by the structural distance that separates the elements involved in this relation. In this paper we present two experiments, providing new evidence that Italian-speaking children with Developmental Language Disorder (DLD), as w...

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...

Rehabilitation procedures recommended for developmental dyslexia (DD) are still not fully defined, and only few studies directly compare different types of training. This study compared a training (Reading Trainer) working on the reading impairment with one (Run the RAN) working on the rapid automatized naming (RAN) impairment, one of the main cogn...

This study investigated whether functional transcranial Doppler ultrasound (fTCD) is a suitable tool for studying hemispheric lateralization of language in patients with pre-perinatal left hemisphere (LH) lesions and right hemiparesis. Eighteen left-hemisphere-damaged children and young adults and 18 healthy controls were assessed by fTCD and fMRI...

It is not clear how audio-visual temporal perception develops in children with restored hearing. In this study we measured temporal discrimination thresholds with an audio-visual temporal bisection task in 9 deaf children with restored audition, and 22 typically hearing children. In typically hearing children, audition was more precise than vision,...

Background: The neuropsychological literature on preterm-born children with spastic diplegia due to periventricular leukomalacia is convergent in reporting deficits in non-verbal intelligence and in visuo-spatial abilities. Nevertheless, other cognitive functions have found to be impaired, but data are scant and not correlated with neuroimaging fi...

Relationship between FA within altered connections and speech/language measures.

Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these al...

Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling. In this study, spelling performance of 28 children with developmental dyslexi...

Methods: 25 children, grouped according to the neuropsychological and anamnestic profiles, took part to the treatment by the software Reading Trainer®. Results: Both speed and accuracy of reading decoding increased significantly after treatment, independently from the functional neuropsychological profile or the history of oral language delay. T...

Background: High Density (hd) EEG during sleep has been successfully applied to the investigation of cortical maturation. More specifically NREM sleep SWA (slow wave activity) topography has emerged as a promising marker of plastic events occurring across development. More recently a few studies have applied hdEEG during nocturnal sleep in children...

Sommario Sulla base dell'ipotesi che esista una stretta continuità tra linguaggio orale e scritto, lo studio ha esaminato se un'ampia gamma di abilità linguistiche misurate in una fase pre-scolare consenta di effettuare una buona predizione del grado di apprendimento della lettura in età scolare. È stato esaminato un campione non selezionato di bam...

Sommario Sulla base dell'ipotesi che esista una stretta continuità tra linguaggio orale e scritto, lo studio ha esaminato se un'ampia gamma di abilità linguistiche misurate in una fase pre-scolare consenta di effettuare una buona predizione del grado di apprendimento della lettura in età scolare. È stato esaminato un campione non selezionato di bam...

Objective: To evaluate the olfactory and psychophysical performances in a 13-yearold boy with intellectual disability and severe hypoplasia of the corpus callosum and of the olfactory bulbs, compared to controls. Methods: The Sniffin’ Sticks Identification Test was administered to the patient and to a patient control child with cognitive delay, wit...

Children with Developmental Dyslexia (DD) are impaired in Rapid Automatized Naming (RAN) tasks, where subjects are asked to name arrays of high frequency items as quickly as possible. However the reasons why RAN speed discriminates DD from typical readers are not yet fully understood. Our study was aimed to identify some of the cognitive mechanisms...

Functional Transcranial Doppler ultrasonography (fTCD) was used to investigate the effects of early acoustic deprivation and subsequent reafferentation on cerebral dominance for language in deaf children provided with Cochlear Implantation (CI). Twenty children with CI (13 in right ear and 7 in left ear) and 20 controls matched for age, sex and han...

Objective: A growing number of studies on deaf children with cochlear implant (CI) document a significant improvement in receptive and expressive language skills after implantation, even if they show language delay when compared with normal-hearing peers. Data on language acquisition in CI Italian children are still scarce and limited to only cert...

We report a boy, referred at 25 months following a dramatic isolated language regression antedating autistic-like symptomatology. His sleep electroencephalogram (EEG) showed persistent focal epileptiform activity over the left parietal and vertex areas never associated with clinical seizures. He was started on adrenocorticotropic hormone (ACTH) wit...

Objectives: Cochlear-implanted deaf children having additional disabilities may develop speech perception and language skills at a slower pace than their implanted peers without such disorders. Nevertheless, it has been shown that, even for these special cases, cochlear implantation (CI) provides benefits for a larger range of neuropsychological f...

Background SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr metabolism disorder but, differently from Cr synth...

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...

Clinical manifestations of developmental dyslexia (DD) are greatly variable, suggesting complex underlying mechanisms. It was recently advanced that the characteristics of DD in Italian, a language with shallow orthography, are influenced by a positive history for language delay. We explored this hypothesis by studying in Italian individuals with D...

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 intellect...

Specific language impairment (SLI) diagnosed in the pre-school years is frequently associated with reading and writing difficulties at school age. The nature of this relationship is unclear, despite the availability of a large number of studies, mostly on English speaking children. Phonological processing deficits have been considered the prominent...

The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation between t...

Language delay is a frequent antecedent of literacy problems, and both may be linked to phonological impairment. Studies on developmental dyslexia have led to contradictory results due to the heterogeneity of the pathological samples. The present study investigated whether Italian children with dyslexia showed selective phonological processing defi...

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 particula...

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/ty...

The issue of cochlear implantation in deaf children with associated disabilities is an emerging subject. Currently, there is no consensus on whether to implant children with multiple impairments; moreover, it may be difficult to evaluate these children with standard tests pre- or post-implantation. In addition, these children often have poor speech...

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 o...

Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year follow-up study of a child, aged 9.6 years, with CT1 defect, on oral supplementation with L-arginine...

In this study we investigated the effects of long-term memory (LTM) verbal knowledge on short-term memory (STM) verbal recall in a sample of Italian children affected by different subtypes of specific language impairment (SLI). The aim of the study was to evaluate if phonological working memory (PWM) abilities of SLI children can be supported by LT...

We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed...

The study aims to verify whether phonologic and rapid automatized naming (RAN) deficits are present and associated in Italian dyslexic children and whether they differentially affect dyslexics with and without a history of previous language delay (LD). According to the phonologic core deficit hypothesis, dyslexia may stem from impairment of the rep...

We reviewed the clinical charts of 22 patients (mean age 12 years) with idiopathic occipital lobe epilepsies (IOLE) to verify the presence of visuoperceptual difficulties. All 22 patients underwent a standard neuropsychiatric examination and had a sleep electroencephalogram (EEG). Eleven had normal development and adequate scholastic achievements,...

The study examined rapid automatized naming (RAN) in 42 children with reading disabilities and 101 control children-all native speakers of Italian, a language with shallow orthography. Third-, 5th- and 6th-grade children were given a RAN test that required rapid naming of color, object, or digit matrices. A visual search test using the same stimulu...

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...

This study examined the influence of rapid automatization naming (RAN) measures on various parameters of reading performance in children who were native speakers of a language with a shallow orthography (Italian). Participants included 281 children enrolled in first-to-sixth grade. They were given a Naming test, in which they had to name rapidly ma...

The aim of the study was to investigate whether children with Specific Language Impairment (SLI) show reduced left hemisphere specialization for language and, if so, whether it is associated with a deficit in phonological encoding and a specific type of SLI (Mixed Receptive-Expressive, Expressive, Phonological). We adopted two dichotic listening pa...

Goal: The goal of this symposium is to identify ‘state-of-the-art’ strategies for the use of antipsychotic medications in the management of children and adolescents with major psychiatric disorders. Learning objectives: 1. Define pediatric populations for whom second-generation antipsychotics are indicated 2. Identify the role of second-generation...

The objective of the study was to define diagnostic boundaries between Regulatory Disorders (RD) and Multisystem Developmental Disorders (MSDD). Two groups of 15 subjects, between 20 and 36 months of age, diagnosed as RD or MSDD, according to DC: 0–3 (1994) criteria, were compared in relationship, linguistic, and behavioral profiles using specific...

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) t...

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 Grif...

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...

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 devel...

Developmental dysphasia (or Specific Language Impairment, according to the terminology adopted in the USA) is a pathological condition in which the linguistic disorder is not associated with deficits in other cognitive domains. Indeed, children diagnosed as dysphasic do not follow the normal course of language development but they appear to be norm...

We present and discuss data from 20 children with Specific Language Impairment (SLI) at two points of development, preschool and first grade. At both points, a detailed linguistic evaluation was conducted regarding the following aspects of development: phonetic repertoire, lexical abilities, repetition, grammatical comprehension disorder and sponta...

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 developm...

In the current report, we present data concerning a followup study of 23 toddlers diagnosed as language delayed (late talkers) at a mean age of 28 months. The results show that 56.5% of the late talkers failed to catch up to their peers in expressive language by age 3. As for predictors, delay or deficit in receptive grammar at an early age was abl...

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 transi...

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...

Omission of functional categories by children with specific language impairment (SLI) is often viewed as a manifestation of the same immaturity characterizing young normal children's grammar. In this article we present and discuss data that challenge this view: atypically high omissions or even almost total absence of determiners in the speech prod...

This article concerns the production of schwa-like elements (Monosyllabic Place Holders, MPHs) before lexical items in early utterances of Italian children. These elements perform the function of protomorphemes, a role testified to by several facts, including the complementary distribution between them and free grammatical morphemes over time. Thes...

Discusses research that gathered language samples via videotape recordings from 2 Italian children (one upper class, the other lower class) from the age of 18 months to 36 months, and then analyzes the data to determine the development of morphology and syntax in these children. (19 references) (CFM)

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 potentia...