Francesca Battaglia - Academia.edu (original) (raw)
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Papers by Francesca Battaglia
Italian Journal of Neurological Sciences, 1999
Scientific Reports, 2021
Failure to develop prospective motor control has been proposed to be a core phenotypic marker of ... more Failure to develop prospective motor control has been proposed to be a core phenotypic marker of autism spectrum disorders (ASD). However, whether genuine differences in prospective motor control permit discriminating between ASD and non-ASD profiles over and above individual differences in motor output remains unclear. Here, we combined high precision measures of hand movement kinematics and rigorous machine learning analyses to determine the true power of prospective movement data to differentiate children with autism and typically developing children. Our results show that while movement is unique to each individual, variations in the kinematic patterning of sequential grasping movements genuinely differentiate children with autism from typically developing children. These findings provide quantitative evidence for a prospective motor control impairment in autism and indicate the potential to draw inferences about autism on the basis of movement kinematics.
Scientific Reports, 2018
Disturbance of primary prospective motor control has been proposed to contribute to faults in hig... more Disturbance of primary prospective motor control has been proposed to contribute to faults in higher mind functions of individuals with autism spectrum disorder, but little research has been conducted to characterize prospective control strategies in autism. In the current study, we applied pattern-classification analyses to kinematic features to verify whether children with autism spectrum disorder (ASD) and typically developing (TD) children altered their initial grasp in anticipation of self- and other-actions. Results indicate that children with autism adjusted their behavior to accommodate onward actions. The way they did so, however, varied idiosyncratically from one individual to another, which suggests that previous characterizations of general lack of prospective control strategies may be overly simplistic. These findings link abnormalities in anticipatory control with increased variability and offer insights into the difficulties that individuals with ASD may experience in...
Developmental Cognitive Neuroscience, 2017
Where grasps are made reveals how grasps are planned. The grasp height effect predicts that, when... more Where grasps are made reveals how grasps are planned. The grasp height effect predicts that, when people take hold of an object to move it to a new position, the grasp height on the object is inversely related to the height of the target position. In the present study, we used this effect as a window into the prospective sensorimotor control of children with autism spectrum disorders without accompanying intellectual impairment. Participants were instructed to grasp a vertical cylinder and move it from a table (home position) to a shelf of varying height (target position). Depending on the conditions, they performed the task using only one hand (unimanual), two hands (bimanual), or with the help of a co-actor (joint). Comparison between the performance of typically developing children and children with autism revealed no group difference across tasks. We found, however, a significant influence of IQ on grasp height modulation in both groups. These results provide clear evidence against a general prospective sensorimotor planning deficit and suggest that at least some form of higher order planning is present in autism without accompanying intellectual impairment.
Neuropediatrics, 2009
The aim of this study is to describe the long-term neurological, neuropsychological and neuroradi... more The aim of this study is to describe the long-term neurological, neuropsychological and neuroradiological sequelae and to determine prognostic factors for neurological outcome in children with neuroblastoma-associated opsoclonus-myoclonus-ataxia (OMA) syndrome. Data on medical history were collected for the study patients. Examinations with grading of neurological signs, neuropsychological tests and brain magnetic resonance imaging with spectroscopy were performed during a follow-up clinic. Fourteen subjects entered the study. All had localized neuroblastoma and they were evaluated after a median of 7.8 years. Patients with a chronic/multiphasic neurological course received steroids combined with intravenous immunoglobulins in the majority of cases. 71% presented neurological sequelae and 62% had a full-scale IQ below the normal range. All patients showed at least some deficit in the neuropsychological functions assessed (language, visual-motor integration, memory, attention and motor ability). Long-term deficits were more frequently detected in patients with an interval of more than 2 months between OMA onset and its diagnosis, even if in most comparisons statistical significance was not reached. Cerebellar atrophy, observed in 36% of patients, was not associated with the neurological outcome. Persisting disability is present in most children with neuroblastoma-associated OMA. However, our results support the role of an early diagnosis of OMA in reducing sequelae and encourage the use of new immunosuppressive therapies.
European Journal of Paediatric Neurology, 2007
condution studies (NCS). All the investigations were carried out by Medelec Mystro type MS 20 ele... more condution studies (NCS). All the investigations were carried out by Medelec Mystro type MS 20 electromyograph. None of patients showed overt clinical signs of polyneuropathy. Results: While unilateral facial motor NCS showed markedly reduced nerve conduction velocities (NCVs) and prolonged distal latencies, motor NCS of above nerves of upper and lower limbs revealed considerably reduced NCVs. Compound motor action potential amplitudes were near normal. In 3 patients we observed mildly elevated protein content in cerebrospinal fluid. Conclusions: In children with idiopathic Bell's palsy who show preferably demyelination of facial motor nerves, upper and lower motor NCS may also reveal subclinical electrophysiologic abnormalities which are suggestive of generalized demyelinating polyneuropathy. IAP040 Ramsay Hunt syndrome: a rare cause of facial palsy in childhood
Proceedings of the National Academy of Sciences, 2022
Significance A major challenge in studying intention reading is high motor variability. Analyses ... more Significance A major challenge in studying intention reading is high motor variability. Analyses conducted across trials provide insights into what happens on average; however, they may obscure how individual observers read intention information in individual movements. We combined motion tracking, psychophysics, and computational analyses to examine intention reading in autism spectrum disorders (ASDs) with single-trial resolution. Results revealed that a sizeable fraction of ASD observers can identify intention-informative variations in ASD (but not in typically developing) movement kinematics, but they are nonetheless unable to extract the encoded intention information. This approach not only enhances our basic understanding of mind reading in ASD but also provides potential avenues for the rational design of training procedures to improve the reading of others’ actions.
Neuropediatrics, 2010
Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (... more Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.
Italian Journal of Pediatrics, 2009
Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental diso... more Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported.
Developmental Medicine and Child Neurology, 2001
Italian Journal of Neurological Sciences, 1999
Scientific Reports, 2021
Failure to develop prospective motor control has been proposed to be a core phenotypic marker of ... more Failure to develop prospective motor control has been proposed to be a core phenotypic marker of autism spectrum disorders (ASD). However, whether genuine differences in prospective motor control permit discriminating between ASD and non-ASD profiles over and above individual differences in motor output remains unclear. Here, we combined high precision measures of hand movement kinematics and rigorous machine learning analyses to determine the true power of prospective movement data to differentiate children with autism and typically developing children. Our results show that while movement is unique to each individual, variations in the kinematic patterning of sequential grasping movements genuinely differentiate children with autism from typically developing children. These findings provide quantitative evidence for a prospective motor control impairment in autism and indicate the potential to draw inferences about autism on the basis of movement kinematics.
Scientific Reports, 2018
Disturbance of primary prospective motor control has been proposed to contribute to faults in hig... more Disturbance of primary prospective motor control has been proposed to contribute to faults in higher mind functions of individuals with autism spectrum disorder, but little research has been conducted to characterize prospective control strategies in autism. In the current study, we applied pattern-classification analyses to kinematic features to verify whether children with autism spectrum disorder (ASD) and typically developing (TD) children altered their initial grasp in anticipation of self- and other-actions. Results indicate that children with autism adjusted their behavior to accommodate onward actions. The way they did so, however, varied idiosyncratically from one individual to another, which suggests that previous characterizations of general lack of prospective control strategies may be overly simplistic. These findings link abnormalities in anticipatory control with increased variability and offer insights into the difficulties that individuals with ASD may experience in...
Developmental Cognitive Neuroscience, 2017
Where grasps are made reveals how grasps are planned. The grasp height effect predicts that, when... more Where grasps are made reveals how grasps are planned. The grasp height effect predicts that, when people take hold of an object to move it to a new position, the grasp height on the object is inversely related to the height of the target position. In the present study, we used this effect as a window into the prospective sensorimotor control of children with autism spectrum disorders without accompanying intellectual impairment. Participants were instructed to grasp a vertical cylinder and move it from a table (home position) to a shelf of varying height (target position). Depending on the conditions, they performed the task using only one hand (unimanual), two hands (bimanual), or with the help of a co-actor (joint). Comparison between the performance of typically developing children and children with autism revealed no group difference across tasks. We found, however, a significant influence of IQ on grasp height modulation in both groups. These results provide clear evidence against a general prospective sensorimotor planning deficit and suggest that at least some form of higher order planning is present in autism without accompanying intellectual impairment.
Neuropediatrics, 2009
The aim of this study is to describe the long-term neurological, neuropsychological and neuroradi... more The aim of this study is to describe the long-term neurological, neuropsychological and neuroradiological sequelae and to determine prognostic factors for neurological outcome in children with neuroblastoma-associated opsoclonus-myoclonus-ataxia (OMA) syndrome. Data on medical history were collected for the study patients. Examinations with grading of neurological signs, neuropsychological tests and brain magnetic resonance imaging with spectroscopy were performed during a follow-up clinic. Fourteen subjects entered the study. All had localized neuroblastoma and they were evaluated after a median of 7.8 years. Patients with a chronic/multiphasic neurological course received steroids combined with intravenous immunoglobulins in the majority of cases. 71% presented neurological sequelae and 62% had a full-scale IQ below the normal range. All patients showed at least some deficit in the neuropsychological functions assessed (language, visual-motor integration, memory, attention and motor ability). Long-term deficits were more frequently detected in patients with an interval of more than 2 months between OMA onset and its diagnosis, even if in most comparisons statistical significance was not reached. Cerebellar atrophy, observed in 36% of patients, was not associated with the neurological outcome. Persisting disability is present in most children with neuroblastoma-associated OMA. However, our results support the role of an early diagnosis of OMA in reducing sequelae and encourage the use of new immunosuppressive therapies.
European Journal of Paediatric Neurology, 2007
condution studies (NCS). All the investigations were carried out by Medelec Mystro type MS 20 ele... more condution studies (NCS). All the investigations were carried out by Medelec Mystro type MS 20 electromyograph. None of patients showed overt clinical signs of polyneuropathy. Results: While unilateral facial motor NCS showed markedly reduced nerve conduction velocities (NCVs) and prolonged distal latencies, motor NCS of above nerves of upper and lower limbs revealed considerably reduced NCVs. Compound motor action potential amplitudes were near normal. In 3 patients we observed mildly elevated protein content in cerebrospinal fluid. Conclusions: In children with idiopathic Bell's palsy who show preferably demyelination of facial motor nerves, upper and lower motor NCS may also reveal subclinical electrophysiologic abnormalities which are suggestive of generalized demyelinating polyneuropathy. IAP040 Ramsay Hunt syndrome: a rare cause of facial palsy in childhood
Proceedings of the National Academy of Sciences, 2022
Significance A major challenge in studying intention reading is high motor variability. Analyses ... more Significance A major challenge in studying intention reading is high motor variability. Analyses conducted across trials provide insights into what happens on average; however, they may obscure how individual observers read intention information in individual movements. We combined motion tracking, psychophysics, and computational analyses to examine intention reading in autism spectrum disorders (ASDs) with single-trial resolution. Results revealed that a sizeable fraction of ASD observers can identify intention-informative variations in ASD (but not in typically developing) movement kinematics, but they are nonetheless unable to extract the encoded intention information. This approach not only enhances our basic understanding of mind reading in ASD but also provides potential avenues for the rational design of training procedures to improve the reading of others’ actions.
Neuropediatrics, 2010
Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (... more Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.
Italian Journal of Pediatrics, 2009
Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental diso... more Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported.
Developmental Medicine and Child Neurology, 2001