Executive Functions and Deafness: Results in a Group of Cochlear Implanted Children

Objects: This study aimed to evaluate the Executive Function (EF) domains in a group of profoundly deaf children treated with cochlear implant (CI) in comparison to normal hearing (NH) children. The secondary aim was to evaluate the influence exerted by the age at cochlear implant activation on EFs. Materials and Methods: 32 children were enrolled into two groups: group A of 17 CI users with a mean age of 8.78 years and group B of 15 NH subjects with a mean age of 7.99 years (SD + 2.3). All subjects were tested using the following tests: the subtests for working memory of the neuropsychological evaluation battery for the developmental age (Batteria di valutazione neuropsicologica per l’età evolutive), inhibition and control of the impulsive response—CAF, and the tower of London test. Results: No children with CIs scored within the normal range in the tests administered for the evaluation of EF domains. The same scores were significantly lower when compared with scores obtained by NH children. Children with younger age at CI activation showed better executive performances in planning, working memory (backward digit span), and cognitive flexibility (categorical fluency). Conclusion: The results of this study highlight that cochlear implantation plays a role in improving hearing and consequently influences the development of EFs in deaf children

LE FUNZIONI ESECUTIVE E LA SORDITA' : INTERZIONE TRA AUDIOLOGO, LOGOPEDISTA E NEUROPSICHIATRA

Le “Funzioni esecutive” rappresentano un ampio e complesso gruppo di processi cognitivi superiori che consentono di pianificare ed attuare strategie utili al raggiungimento di un obiettivo; permettono inoltre di modulare i comportamenti per adeguarsi alle variazioni del contesto ambientale. Bambini con una sordità profonda in epoca preverbale sperimentano un periodo di deprivazione uditiva con conseguenze a breve termine (come l’ipotrofia di alcune aree corticali) ed a lungo termine, come un ritardo nello sviluppo del linguaggio (sia nella comprensione, che nell’espressione). Abbiamo confrontato lo sviluppo delle funzioni esecutive in bambini con sordità preverbale ed impianto cocleare (IC) con bambini con sviluppo tipico dell’udito e del linguaggio costituendo due campioni: il primo, composto di 17 bambini (7 femmine, 10 maschi) di età compresa tra i 5 ed i 12 anni con sordità neurosensoriale ed IC; il secondo composto di 15 bambini (5 bambine, 9 bambini) normoudenti, pari età e con assenza di alterazioni dello sviluppo e del linguaggio.I risultati ottenuti mostrano differenze significative tra i punteggi dei due gruppi di pazienti.Inoltre l’analisi statistica ha dimostrato che all’aumentare della durata dell’utilizzo dell’IC miglioravano tutte le FE ad eccezione della capacità di inibizione. Le abilità percettive studiate non correlavano con le FE

Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology

A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Potential Diagnostic Biomarkers in Autism Spectrum Disorders: A Preliminary Study

Autism spectrum disorder (ASD) is one of the most common neurodevelopment disorders, characterized by a multifactorial etiology based on the interaction of genetic and environmental factors. Recent evidence supports the neurobiological hypothesis based on neuroinflammation theory. To date, there are no sufficiently validated diagnostic and prognostic biomarkers for ASD. Therefore, we decided to investigate the potential diagnostic role for ASD of two biomarkers well known for other neurological inflammatory conditions: the glial fibrillary acidic protein (GFAP) and the neurofilament (Nfl). Nfl and GFAP serum levels were analyzed using SiMoA technology in a group of ASD patients and in a healthy control group (CTRS), age- and gender-matched. Then we investigated the distribution, frequency, and correlation between serum Nfl and GFAP levels and clinical data among the ASD group. The comparison of Nfl and GFAP serum levels between ASD children and the control group showed a mean value of these two markers significantly higher in the ASD group (sNfL mean value ASD pt 6.86 pg/mL median value ASD pt 5.7 pg/mL; mean value CTRS 3.55 pg/mL; median value CTRS 3.1 pg; GFAP mean value ASD pt 205.7 pg/mL median value ASD pt 155.4 pg/mL; mean value CTRS 77.12 pg/mL; median value CTRS 63.94 pg/mL). Interestingly, we also found a statistically significant positive correlation between GFAP levels and hyperactivity symptoms (p-value <0.001). Further investigations using larger groups are necessary to confirm our data and to verify in more depth the potential correlation between these biomarkers and ASD clinical features, such as the severity of the core symptoms, the presence of associated symptoms, and/or the evaluation of a therapeutic intervention. However, these data not only might shed a light on the neurobiology of ASD, supporting the neuroinflammation and neurodegeneration hypothesis, but they also might support the use of these biomarkers in the early diagnosis of ASD, to longitudinally monitor the disease activity, and even more as future prognostic biomarkers

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Potential Diagnostic Biomarkers in Autism Spectrum Disorders: A Preliminary Study

Autism spectrum disorder (ASD) is one of the most common neurodevelopment disorders, characterized by a multifactorial etiology based on the interaction of genetic and environmental factors. Recent evidence supports the neurobiological hypothesis based on neuroinflammation theory. To date, there are no sufficiently validated diagnostic and prognostic biomarkers for ASD. Therefore, we decided to investigate the potential diagnostic role for ASD of two biomarkers well known for other neurological inflammatory conditions: the glial fibrillary acidic protein (GFAP) and the neurofilament (Nfl). Nfl and GFAP serum levels were analyzed using SiMoA technology in a group of ASD patients and in a healthy control group (CTRS), age- and gender-matched. Then we investigated the distribution, frequency, and correlation between serum Nfl and GFAP levels and clinical data among the ASD group. The comparison of Nfl and GFAP serum levels between ASD children and the control group showed a mean value of these two markers significantly higher in the ASD group (sNfL mean value ASD pt 6.86 pg/mL median value ASD pt 5.7 pg/mL; mean value CTRS 3.55 pg/mL; median value CTRS 3.1 pg; GFAP mean value ASD pt 205.7 pg/mL median value ASD pt 155.4 pg/mL; mean value CTRS 77.12 pg/mL; median value CTRS 63.94 pg/mL). Interestingly, we also found a statistically significant positive correlation between GFAP levels and hyperactivity symptoms (p-value <0.001). Further investigations using larger groups are necessary to confirm our data and to verify in more depth the potential correlation between these biomarkers and ASD clinical features, such as the severity of the core symptoms, the presence of associated symptoms, and/or the evaluation of a therapeutic intervention. However, these data not only might shed a light on the neurobiology of ASD, supporting the neuroinflammation and neurodegeneration hypothesis, but they also might support the use of these biomarkers in the early diagnosis of ASD, to longitudinally monitor the disease activity, and even more as future prognostic biomarkers