Objectives: Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage.Methods: DNA samples extracted from dried blood spot (DBS) from newborns in Apulia region were analysed for SMA screening by using a real‐time PCR‐based assay. Infants harbouring homozygous deletion of SMN1 exon 7 confirmed by diagnostic molecular tests underwent clinical and neurophysiological assessment and received a timely treatment.Results: Over the first 20 months since regional NBS introduction, four out of 42,492 (0.009%) screened children were found to carry a homozygous deletion in the exon 7 of SMN1 gene, with an annual incidence of 1:10,623. No false negatives were present. Median age at diagnosis was 7 days and median age at treatment was 20.5 days. Three of them had two copies of SMN2 and received gene therapy, while the one with three SMN2 copies was treated with nusinersen. All but one were asymptomatic at birth, showed no clinical signs of disease after a maximum follow‐up of 16 months and reached motor milestones appropriate with their age. The minimum interval between diagnosis and the treatment initiation was 9 days.Interpretation: The timely administration of disease‐modifying therapies prevented presymptomatic subjects to develop disease symptoms. Mandatory NBS for SMA should be implemented on a national scale.
Research suggests a potential of gamma oscillation entrainment for enhancing memory in Alzheimer's disease and healthy subjects. Gamma entrainment can be accomplished with oscillatory electrical, but also sensory stimulation. However, comparative studies between sensory stimulation and transcranial alternating current stimulation (tACS) effects on memory processes are lacking. This study examined the effects of rhythmic gamma auditory stimulation (rAS) and temporal gamma‐tACS on verbal long‐term memory (LTM) and working memory (WM) in 74 healthy individuals. Participants were assigned to two groups according to the stimulation techniques (rAS or tACS). Memory was assessed in three experimental blocks, in which each participant was administered with control, 40, and 60 Hz stimulation in counterbalanced order. All interventions were well‐tolerated, and participants reported mostly comparable side effects between real stimulation (40 and 60 Hz) and the control condition. LTM immediate and delayed recall remained unaffected by stimulations, while immediate recall intrusions decreased during 60 Hz stimulation. Notably, 40 Hz interventions improved WM compared to control stimulations. These results highlight the potential of 60 and 40 Hz temporal cortex stimulation for reducing immediate LTM recall intrusions and improving WM performance, respectively, probably due to the entrainment of specific gamma oscillations in the auditory cortex. The results also shed light on the comparative effects of these neuromodulation tools on memory functions, and their potential applications for cognitive enhancement and in clinical trials.
Objective: Resting-state EEG (rsEEG) provides insights into neural mechanisms underlying memory by reflecting intrinsic brain activity. This study tested whether rsEEG spectral power and theta-gamma phase-amplitude coupling (PAC) can predict memory performance in healthy adults. Methods: Twenty-four healthy adults participated in two rsEEG recording sessions, followed by memory tests assessing multimodal Working Memory (WM), Immediate Recall (IR), and Delayed Recall (DR). The predictive value of rsEEG spectral power across frequency bands and theta-gamma PAC was analyzed in relation to memory performance. Results: High-gamma (h-γ, 51–100 Hz) power significantly predicted IR and DR, accounting for over 43% of the variance. Temporal and frontal h-γ power positively correlated with memory performance, while posterior h-γ power showed a negative correlation. Temporal low-gamma (30–49 Hz) power positively predicted DR, and posterior and frontal theta power was significantly linked to IR. Other frequency bands showed marginal associations, and theta-gamma PAC had limited predictive value. Conclusions: Spontaneous gamma activity emerged as a key predictor of memory performance in healthy adults, highlighting the role of brain networks in encoding and retrieval processes.
Assessing associative memory, particularly in complex paradigms such as face-name association, enables monitoring of cognitive functioning. Electrophysiological correlates of associative memory could provide fundamental insights into the functional role of brain dynamics. This study explored whether resting-state EEG (rsEEG) spectral power and coherence were associated with performance on the Italian Face-Name Association Test (ItFNAT). Thirty-two healthy adults ( Mage = 23.28) underwent an eyes-closed rsEEG recording before the administration of the ItFNAT, which provides scores for immediate recall (IR), delayed free recall (DFR), and delayed total recall (DTR). Frontal, temporal, central and posterior rsEEG spectral power density and theta and gamma network coherence were analyzed in relation to the test scores. High-gamma power (h-γ, 51–100 Hz) was significantly associated with DTR performance, explaining approximately 38% of the adjusted variance. Frontal and temporal h-γ power were positively associated with DTR performance, whereas posterior h-γ power showed a negative association. Furthermore, low-gamma coherence (l-γ, 30–49 Hz) showed trend-wise negative associations with delayed-recall performance. Spontaneous gamma activity showed region-specific associations with face-name memory performance in healthy adults, involving frontal, temporal, and posterior regions. This regional pattern may represent a neurophysiological correlate of individual differences in associative memory retrieval.
Research suggests a potential of gamma oscillation entrainment for enhancing memory in Alzheimer’s disease and healthy subjects. Gamma entrainment can be accomplished with oscillatory electrical, but also sensory stimulation. However, comparative studies between sensory stimulation and transcranial alternating current stimulation (tACS) effects on memory processes are lacking. This study examined the effects of rhythmic gamma auditory stimulation (rAS) and temporal gamma-tACS on verbal long-term memory (LTM) and working memory (WM) in 74 healthy individuals. Participants were assigned to two groups according to the stimulation techniques (rAS or tACS). Memory was assessed in three experimental blocks, in which each participant was administered with control, 40 Hz, and 60 Hz stimulation in counterbalanced order. All interventions were well-tolerated, and participants reported mostly comparable side effects between real stimulation (40 Hz and 60 Hz) and the control condition. LTM immediate and delayed recall remained unaffected by stimulations, while immediate recall intrusions decreased during 60 Hz stimulation. Notably, 40 Hz interventions improved WM compared to control stimulations. These results highlight the potential of 60 Hz and 40 Hz temporal cortex stimulation for reducing immediate LTM recall intrusions and improving WM performance, respectively, probably due to the entrainment of specific gamma oscillations in the auditory cortex. The results also shed light on the comparative effects of these neuromodulation tools on memory functions, and their potential applications for cognitive enhancement and in clinical trials.