Maria Rosa Pizzamiglio

Sensory-Motor Rehabilitation in Rett Syndrome: A Case Report.

Rett syndrome (RS) is a severe neurodevelopmental disorder that mostly affects females. It is characterized by a regression of motor, cognitive, linguistic, and social abilities and by an inappropriate and stereotypical use of the hands. The purpose of the current study was to explore the possibility of rehabilitating purposeful use of the hands and hand-eye coordination in individuals with this syndrome. G.P., a child affected by RS, received experimental, computerized visual-motor coordination training and a sensory-motor rehabilitative program specifically designed for her based on Piagets (1937) theory of cognitive development. After 3 years of therapy, G.P. partially regained the use of her hands as an instrument of object knowledge and as a means of communicating with people.

Congenital prosopagnosia in a child: Neuropsychological assessment, eye movement recordings and training

Here we report the assessment and treatment of a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (CP). We investigated his performance using a test battery and eye movement recordings pre- and post-training. L.G. showed deficits in recognising relatives and learning new faces, and misrecognition of unfamiliar people. Eye movement recordings showed that L.G. focused on the lower part of stimuli in naming tasks based on familiar or unfamiliar incomplete or complete faces. The training focused on improving his ability to explore internal features of faces, to discriminate specific facial features of familiar and unfamiliar faces, and to provide his family with strategies to use in the future. At the end of the training programme L.G. no longer failed to recognise close and distant relatives and classmates and did not falsely recognise unknown people.

Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome

The present study reports on the effects of an experimental computerized training specifically conceived for improving visual-motor coordination in a child (L.D.J.) affected by Cri-du-Chat syndrome. The child was asked to touch a picture on the screen with a coordinated hand movement to obtain the appearance of a new picture. The training was organized into four levels of increasing difficulty, which were progressively administered in different sessions. Response times and number of errors were collected at each session. The child improved in performing computerized training, becoming faster and more accurate. Unlike control participants, she also improved in performing untrained tasks, which implied similar skills. Repercussions on L.D.J.s autonomy and communication skills in daily life are described.

Evidence of taxonomy for Developmental Topographical Disorientation: Developmental Landmark Agnosia Case 1

ABSTRACT We report Developmental Landmark Agnosia (DLA) in a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (see Pizzamiglio et al., 2017, in which both testing and rehabilitation of Congenital Prosopagnosia are reported). We investigated his performance using a neuropsychological battery and eye movement recordings. The assessment showed the presence of deficits in recognizing familiar places (along with Congenital Prosopagnosia), but not common objects. Eye movement recordings confirmed his problems in recognizing familiar landmarks and misrecognition of unfamiliar places. L.G. is the first evidence of a DLA, suggesting identification of taxonomy of navigational disorders in Developmental Topographical Disorientation is possible, as in the Acquired Topographical Disorientation.

Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome.

ABSTRACT. The authors investigated narrative competence, sociocognitive abilities and emotion comprehension in a 9-year-old child (FS) with Cri-du-Chat Syndrome (CdCS) who had only a mild mental delay and relatively preserved language. Considering that the production of narratives is a major step in development and in the acquisition of learning skills related to conceptual, linguistic, structural, and pragmatic knowledge, and in the development of psychological lexicon, that is, the ability to use theory of mind (ToM) processes also in atypical development, this case provided an opportunity to study aspects of this genetic syndrome never investigated before. The authors found that the childs performance on different stories was comparable to that of chronological age controls for several narrative and emotional competences and even better than that of mental age controls. However, her ability to reason was still incomplete according ToM; in fact, FS was able to express her mental states, but she was unable to understand emotions, specifically mixed emotions. This finding suggests that in CdCS children with a well-developed language narrative and emotional competence could be a point of strength for improving their social skills with important effects on their familiar and school life. Also in CdCS children with the typical poor developed language, the narrative discourse could be introduced in their communication by means of any type of alternative language (i.e., sign language or augmentative and alternative communication) to improve their social abilities and to reduce behavioral disorders due to the difficulty in expressing their personal experiences.

Language disorder in a child with early left thalamic lesion.

Abstract In this paper we present the case of a child with early left thalamic vascular damage who subsequently developed a language disorder. At 3 years and 8 months, her language was poor and unintelligible and showed phonetic, phonological and morpho-syntactic disorders. She did not exhibit any signs of mental retardation. After specific speech therapy, she improved in all linguistic skills. Given the lack of reports on thalamic lesions in children, this paper describes the effect of a thalamic injury in the earliest phases of language acquisition in a child who showed consistent phonological disorders. This case seems to confirm early hemispheric specialisation and the importance of a timely therapy.

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management

ABSTRACT Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.

Riconoscimento Delle Posizioni Prospettiche

Quando un individuo trova un ostacolo lungo un percorso, o deve trovare una scorciatoia, o nel caso in cui debba riprodurre al contrario un tragitto precedentemente effettuato, per orientarsi con successo deve essere in grado di riconoscere i landmark precedentemente incontrati, anche se questi vengono visualizzati secondo una prospettiva differente. La capacita di riconoscere una stessa immagine presentata da punti di vista diversi e quindi fondamentale per il buon esito della navigazione.

Orientamento topografico nell’uomo

Per mantenere l’orientamento nell’ambiente circostante, l’uomo deve aggiornare le proprie relazioni spaziali egocentriche (vale a dire le informazioni che provengono da se stesso in relazione con l’ambiente) al cambiare della sua posizione nello spazio. Tali aggiornamenti avvengono tramite l’integrazione di diverse fonti di informazioni (visiva, vestibolare, propriocettiva). In particolar modo l’informazione visiva gioca un ruolo fondamentale nell’aggiornamento sia della propria posizione sia di eventuali modifiche subite dall’ambiente (Farrell, Robertson, 2000). Inoltre, attraverso l’esperienza che deriva dal suo movimento nello spazio, l’individuo e in grado di elaborare un’informazione sia propriocettiva (cioe un’informazione sul senso di posizione e movimento degli arti e del corpo, che si ha indipendentemente dalle informazioni visive) sia locomotoria (un’informazione derivante dal proprio movimento indipendentemente dall’informazione visiva). Inoltre, gli studi condotti sui non vedenti ci insegnano che gli individui sono effettivamente in grado di aggiornare la propria posizione anche in assenza dell’informazione visiva (Rieser et al., 1986; Rieser 1989; Seemungal et al., 2007). Quando una persona si muove al buio ricava le informazioni sulla propria posizione basandosi su un processo definito path integration nel quale la posizione viene dedotta sulla base delle informazioni che derivano da segnali inerziali inviati dal sistema vestibolare e da informazioni tattili, attraverso un complicatissimo processo di integrazione che si avvale anche di veri e propri calcoli matematici per addizionare le informazioni vettoriali di movimento (Mittlestaedt, Mittlestaedt, 1980; Glasauer et al., 2002).

Prerequisiti Di Percezione Visuo-Spaziale

L’abilita di navigazione umana include diverse sottocomponenti che contribuiscono indipendentemente alla capacita di orientamento.