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Alström syndrome (OMIM#203800) is an ultra‐rare autosomal recessive monogenic disease presenting pathogenic variants in ALMS1 (chromosome 2p13). It is characterized by early onset of blindness, hearing loss and systemic comorbidities,... more
Alström syndrome (OMIM#203800) is an ultra‐rare autosomal recessive monogenic disease presenting pathogenic variants in ALMS1 (chromosome 2p13). It is characterized by early onset of blindness, hearing loss and systemic comorbidities, with delayed development without cognitive impairment. We aimed to investigate the cognitive functions and describe new pathogenic variants in Alström syndrome patients. Nineteen patients (13 adults, 6 children) underwent a thorough clinical, genetic, laboratory, instrumental, and neurocognitive assessment. Six new pathogenic variants in ALMS1 including the first described in exon 6 were identified. Four patients displayed a “mild phenotype” characterized by slow disease onset or absence of complications, including childhood obesity and association with at least one pathogenic variant in exon 5 or 6. At neurocognitive testing, a significant proportion of patients had deficits in three neurocognitive domains: similarities, phonological memory, and aprax...
Prosody guides listeners to word and phrase boundaries. Whilst some cues – such as the predominant pattern of stress placement with respect to word boundaries – are language-specific, lengthening of vowels in phrase-final syllables has... more
Prosody guides listeners to word and phrase boundaries. Whilst some cues – such as the predominant pattern of stress placement with respect to word boundaries – are language-specific, lengthening of vowels in phrase-final syllables has been proposed to be a universal cue to upcoming boundaries (Beckman, 1992). Lengthening of onset consonants in word-initial syllables is also widely observed across languages, and is therefore another potentially universal segmentation cue (Keating, Cho, Fougeron, & Hsu, 2003). Using an artificial language learning paradigm, we have found that English listeners use consonant lengthening as a cue to a preceding word boundary (White, Mattys, Steffansdottir, & Jones, submitted). Here we adapted that methodology for crosslinguistic use. We created an artificial language comprised of four trisyllabic (CV-CVCV) sequences, none of which resembled any real words in English, Hungarian and Italian, three languages with distinct prosodic characteristics. Two ver...
Specific impairments in numerical functions may cause severe problems in everyday life that cannot be inferred from the available scales evaluating instrumental activities of daily living. The Numerical Activities of Daily living (NADL)... more
Specific impairments in numerical functions may cause severe problems in everyday life that cannot be inferred from the available scales evaluating instrumental activities of daily living. The Numerical Activities of Daily living (NADL) is a battery designed to assess the patient’s performance in everyday activities involving numbers (Informal Test) and in more scholastic capacities (Formal Test). A downside of this battery is its duration (45 min). The aim of the present study is to build a shorter version of NADL to make it more suitable for clinical and research purposes. The shortening procedure involved only the Formal test, and followed two steps: (i) a correlation of subtests with the general scores, and (ii) an item-analysis within the subtests previously showing higher correlations. Correlations between NADL-Short and NADL original version, and the new cut-offs were calculated. Lastly, the relationship between NADL-Short and other brief cognitive screening tests used in the clinical practice was evaluated in neurological patients and healthy controls. The NADL-Short includes the original Informal Test and the shortened Formal Test. It is a quick and easy clinical tool (15 min) to assess numerical abilities applied to informal and formal situations. It correlates highly with the original battery (Kendall’s tau greater than 0.6 across tasks) and the cut-offs correctly identify impaired performance (accuracy of 95% or above). Correlation analysis showed a low positive correlation between NADL-Short and other brief cognitive scales. These findings suggest that it is appropriate to use specific tools to make inferences about a person's numerical abilities.
Patients with mild cognitive impairment (MCI) might experience difficulties in numerical and financial abilities of daily living that compromise their autonomy. The aim of the present work was to examine whether specific tests of the... more
Patients with mild cognitive impairment (MCI) might experience difficulties in numerical and financial abilities of daily living that compromise their autonomy. The aim of the present work was to examine whether specific tests of the standard neuropsychological assessment could be used to predict these deficits in the clinical practice. Thirty-four MCI patients underwent a comprehensive clinical and neuropsychological examination including (1) a complete assessment of financial abilities and (2) a traditional neuropsychological assessment including measures of language, memory, executive functioning, reasoning, attention, and visuospatial abilities. The neuropsychological tests were used as predictors of the performance in everyday financial tasks using logistic regression analysis. Deficits in financial tasks including calculating percentages, using financial concepts and applying financial judgments were significantly predicted by tests of executive functions, language and short-term memory, while deficits in frequently encountered financial tasks activities such as item purchase and reading numbers could not be predicted by standard neuropsychological evaluations. Contingency tables on performance above/below clinical cut-offs evidenced some cases of financial deficits in the absence of cognitive deficits and, vice versa, some patients with cognitive decline did not show financial impairments. These results suggest that while some cognitive functions might be crucial for taking financial decisions, an ad hoc test of financial capacity is essential to make overall inferences about the everyday financial autonomy of MCI patients. This has potential implications for clinical and legal decisions that directly impact the individuals and their families.
Accessing semantic information has negative consequences for successive recovering attempts of similar information. For instance, in the course of picture-naming tasks, the time required to name an object is determined by the total number... more
Accessing semantic information has negative consequences for successive recovering attempts of similar information. For instance, in the course of picture-naming tasks, the time required to name an object is determined by the total number of items from the same category that have already been named; naming latencies increase proportionally to the total number of semantically related words named previously. This phenomenon is called cumulative semantic cost (or interference). Two picture-naming experiments with children (4–11 years old, 229 participants) investigate whether having successfully named the previous within-category items is a necessary condition for the cumulative semantic cost to appear. We anticipated that younger children would have a larger rate of nonresponses compared with older children, reflecting the fact that younger children have not yet consolidated many lexical representations. Our results confirmed this prediction. Critically, we also observed that cumulati...
Mild Cognitive Impairment (MCI) patients experience problems in financial abilities that affect everyday functioning. To date, the neural correlates of decline in this domain are unclear. This study aims at examining the correlation... more
Mild Cognitive Impairment (MCI) patients experience problems in financial abilities that affect everyday functioning. To date, the neural correlates of decline in this domain are unclear. This study aims at examining the correlation between the pattern of brain atrophy of MCI patients and performance on financial abilities. Forty-four MCI patients and thirty-seven healthy controls underwent structural magnetic resonance imaging, and assessment of financial abilities by means of the Numerical Activities of Daily Living Financial battery (NADL-F). As compared to healthy controls, MCI patients showed impaired performance in three out of the seven domains assessed by NADL-F: Item purchase, percentage, and financial concepts. The patients' performance in the NADL-F correlated with memory, language, visuo-spatial, and abstract reasoning composite scores. The analysis also revealed that volumetric differences in the limbic structures significantly correlated with financial abilities in MCI. Specifically, the patients' performance in the NADL-F was correlated with atrophy in the left medial and lateral amygdala and the right anterior thalamic radiation. These findings suggest that completing daily financial tasks involves sub-cortical regions in MCI and presumably also the motivational and emotional processes associated to them. Involvement of altered limbic structures in MCI patients suggests that impairment in financial abilities may be related to emotional and reflexive processing deficits.
The role of the left hemisphere in calculation has been unequivocally demonstrated in numerous studies in the last decades. The right hemisphere, on the other hand, had been traditionally considered subsidiary to the left hemisphere... more
The role of the left hemisphere in calculation has been unequivocally demonstrated in numerous studies in the last decades. The right hemisphere, on the other hand, had been traditionally considered subsidiary to the left hemisphere functions, although its role was less clearly defined. Recent clinical studies as well as investigations conducted with other methodologies (e.g. neuroimaging, transcranial magnetic stimulation and direct cortical electro-stimulation) leave several unanswered questions about the contribution of the right hemisphere in calculation. In particular, novel clinical studies show that right hemisphere acalculia encompasses a wide variety of symptoms, affecting even simple calculation, which cannot be easily attributed to spatial disorders or to a generic difficulty effect as previously believed. The studies reported here also show how the right hemisphere has its own specific role and that only a bilateral orchestration between the respective functions of each ...
Perception and cognition in infants have been traditionally investigated using habituation paradigms, assuming that babies' memories in laboratory contexts are best constructed after numerous repetitions of the very same stimulus in... more
Perception and cognition in infants have been traditionally investigated using habituation paradigms, assuming that babies' memories in laboratory contexts are best constructed after numerous repetitions of the very same stimulus in the absence of interference. A crucial, yet open, question regards how babies deal with stimuli experienced in a fashion similar to everyday learning situations-namely, in the presence of interfering stimuli. To address this question, we used functional near-infrared spectroscopy to test 40 healthy newborns on their ability to encode words presented in concomitance with other words. The results evidenced a habituation-like hemodynamic response during encoding in the left-frontal region, which was associated with a progressive decrement of the functional connections between this region and the left-temporal, right-temporal, and right-parietal regions. In a recognition test phase, a characteristic neural signature of recognition recruited first the rig...
In language, the relative order of words in sentences carries important grammatical functions. However, the developmental origins and the neural correlates of the ability to track word order are to date poorly understood. The current... more
In language, the relative order of words in sentences carries important grammatical functions. However, the developmental origins and the neural correlates of the ability to track word order are to date poorly understood. The current study therefore investigates the origins of infants' ability to learn about the sequential order of words, using near-infrared spectroscopy (NIRS) with newborn infants. We have conducted two experiments: one in which a word order change was implemented in 4-word sequences recorded with a list intonation (as if each word was a separate item in a list; list prosody condition, Experiment 1) and one in which the same 4-word sequences were recorded with a well-formed utterance-level prosodic contour (utterance prosody condition, Experiment 2). We found that newborns could detect the violation of the word order in the list prosody condition, but not in the utterance prosody condition. These results suggest that while newborns are already sensitive to word...
Financial capacity is the ability to manage one's own finances according to self-interests. Failure in financial decisions and lack of independence when dealing with money can affect... more
Financial capacity is the ability to manage one's own finances according to self-interests. Failure in financial decisions and lack of independence when dealing with money can affect people's quality of life and are associated with neuropsychological deficits or clinical conditions such as mild cognitive impairment or Alzheimer's disease. Despite the importance of evaluating financial capacity in the assessment of patients with neuropsychological and psychiatric disorders, only a few tools have been developed. In the present article, the authors introduce the Numerical Activities of Daily Living - Financial (NADL-F) test, a new test to assess financial capacity in clinical populations. The NADL-F is relatively short, yet it encompasses the most common activities involving financial capacities. The NADL-F proved to have satisfactory psychometric properties and overall good validity for measuring financial abilities. Associations with performance on basic neuropsychological tests were investigated, in particular focusing on mathematical abilities as cognitive correlates of financial capacity. Results indicate that the NADL-F could be a useful tool to guide treatments for the enhancement of financial capacities. By sharing all materials and procedures, the authors hope to promote the development of further versions of the NADL-F in different languages, taking into account the necessary adjustments related to different socio-cultural contexts.
The use of neuroscience to improve education has been considered by researchers and practitioners alike. However, workable solutions that lead to improvements in research and practice are yet to emerge. As newly qualified educational... more
The use of neuroscience to improve education has been considered by researchers and practitioners alike. However, workable solutions that lead to improvements in research and practice are yet to emerge. As newly qualified educational neuroscientists, our experiences dictate that the progress in this field relies upon ‘Educational Neuroscience’ being recognised as a distinct discipline. We therefore present a four-stage practical approach that concretely describes the role of the educational neuroscientist and details how neuroscientific knowledge can be practically assessed in the classroom. Using this approach, junior scientists will become empowered to replace the ‘bridge’ between education and neuroscience with a stronger, distinct Educational Neuroscience highway that is built in parallel to the existing paths.
Recent research has shown that specific areas of the human brain are activated by speech from the time of birth. However, it is currently unknown whether newborns' brains also encode and remember the sounds of words when processing... more
Recent research has shown that specific areas of the human brain are activated by speech from the time of birth. However, it is currently unknown whether newborns' brains also encode and remember the sounds of words when processing speech. The present study investigates the type of information that newborns retain when they hear words and the brain structures that support word-sound recognition. Forty-four healthy newborns were tested with the functional near-infrared spectroscopy method to establish their ability to memorize the sound of a word and distinguish it from a phonetically similar one, 2 min after encoding. Right frontal regions—comparable to those activated in adults during retrieval of verbal material—showed a characteristic neural signature of recognition when newborns listened to a test word that had the same vowel of a previously heard word. In contrast, a characteristic novelty response was found when a test word had different vowels than the familiar word, despite having the same consonants. These results indicate that the information carried by vowels is better recognized by newborns than the information carried by consonants. Moreover, these data suggest that right frontal areas may support the recognition of speech sequences from the very first stages of language acquisition.
Home; About; Submit; Advertise & PR. Register; Login. Science: Genetics: Applied Genetic Epidemiology; Behavioral and Psychiatric Genetics; Bioinformatics and Computational Biology; Epigenomics; Evolutionary and Genomic... more
Home; About; Submit; Advertise & PR. Register; Login. Science: Genetics: Applied Genetic Epidemiology; Behavioral and Psychiatric Genetics; Bioinformatics and Computational Biology; Epigenomics; Evolutionary and Genomic Microbiology; ...
La medición de catecolaminas en orina ha sido utilizada tanto para diagnóstico como para la investigación. Este trabajo propone algunas modificaciones y condiciones estandarizadas para llevar a cabo la recolección de muestras de orina y... more
La medición de catecolaminas en orina ha sido utilizada tanto para diagnóstico como para la investigación. Este trabajo propone algunas modificaciones y condiciones estandarizadas para llevar a cabo la recolección de muestras de orina y la extracción y cuantificación de las ...