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2PS1.3 Early intervention, language development and related benefits in children with permanent hearing impairment
Plenary sessions 2PS1. Progress in language development: research and early interventions 2PS1.1 Dissecting the neural networks involved in articulation through structural and functional brain imaging: FOXP2 and the KE family F. Liegeois1 , A.T. Morgan2 , A. Connolly3 , F. Vargha-Khadem1 *. 1 Developmental Cognitive Neuroscience Unit, UCL Institute of Child Health, London, United Kingdom, 2 Murdoch Childrens Research Institute, Melbourne, Australia, 3 Brain Research Institute, Melbourne, Australia The discovery of FOXP2 as the first gene associated with the development of the uniquely human gift of speech, has opened a molecular window onto investigations that examine the role of this gene in setting up the speech and language, and the motor sequencing circuitry in the brain. The discovery of FOXP2 was made possible through a series of genetic, neuropsychological, and brain imaging investigations of the large three-generational KE family, half of whose members are affected with a speech and language disorder and a verbal and orofacial dyspraxia. This presentation will focus on the phenotype of verbal and orofacial dyspraxia (i.e. the core deficit in the affected KE family members) and examine its neural correlates through structural and functional brain imaging studies. The structural brain imaging investigations highlight bilateral abnormalities in a number of motor, and speech and language-related brain regions, whilst the functional neuroimaging examinations during word and non word repetition tasks reveal the differential recruitment of the “language network” in comparison with a predominantly “motor network” involved in the imitation and vocal learning of novel sequences of speech sounds. These findings will be discussed in relation to a neuroanatomical model of the speech and language circuit. 2PS1.2 Imaging of plasticity of language development L. Hertz-Pannier1 *. 1 Laboratory for Clinical Research of Neurospin, CEA, France fMRI is an excellent non invasive tool to assess language networks in children with brain lesions, but also in typically developing children, providing some adaptations of the methodology to the pediatric population are being made. In healthy babies, early left language specialization has been demonstrated, which strengthens during childhood until at least the age of 18 years, along with the acquisition of oral and written language. Focal brain pathology and/or epilepsy may lead to (re)organization of the language networks in homotopic regions of the contralateral hemisphere, through multifactorial age-dependent plasticity, with much better functional outcome in children than in adults. This plasticity can involve only networks sustaining specific language components (i.e. expressive vs receptive language), and is possible at least until late childhood, even in extreme situations such as hemispherotomies. It, however, carries some functional limitations. 2PS1.3 Early intervention, language development and related benefits in children with permanent hearing impairment C. Kennedy1,2 *. 1 University of Southampton, Southampton, United Kingdom, 2 Southampton University Hospital, NHS Trust, Southampton, United Kingdom Neuroscientists are increasingly acknowledging the importance of the first few months of life for the development of the pathways in the brain that support normal spoken language development. The language input that an infant
S3 receives during this time shapes the development of these neural pathways. Even though babies are not producing language this early on, the language that they hear from others will be laying the foundations in the brain for their own production of language at a later stage. As we know, this is the case in infants born with a hearing impairment for whom significantly degraded language input in the critical first few months of life impacts severely on their spoken language development. Early identification of hearing loss and early intervention can mitigate these effects.
2PS2. Diagnosis and treatment in immune mediated neurological disorders 2PS2.1 Autoantibodies in disorders of the central nervous system A. Vincent1 *. 1Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, United Kingdom In recent years it has become clear that there are autoantibodies associated with central nervous system disorders which respond to immunotherapies that reduce the levels of the specific antibodies. Antibodies to voltage-gated potassium channel complex antigens (Lgi1 and Capsr2) are found in patients with the rare Morvan’s syndrome or more commonly in a form of limbic encephalitis; these antibodies fall rapidly after immunotherapies and the patients generally make a substantial recovery. Antibodies to N-methyl-Daspartate receptors are found in a complex encephalopathy most frequent in younger adults and children; this condition can be associated with ovarian (or rarely other) teratomas and the patients often have a prolonged illness but most recover after removal of the tumour and/or immunotherapies as appropriate. Other antibodies associated with different clinical syndromes are now being identified and will be described. These diseases are of considerable scientific and clinical interest and are beginning to be recognised worldwide. 2PS2.2 Differential diagnosis in autoimmune/inflammatory diseases of CNS S. Tenembaum1 *. 1 Department of Neurology, National Paediatric Hospital “Dr. J. P. Garrahan”, Buenos Aires, Argentina Autoimmune/inflammatory diseases of CNS comprise a wide range of disorders, from transient syndromes such as acute disseminated encephalomyelitis (ADEM), to life-long diseases like multiple sclerosis (MS) and recurrent neuromyelitis optica (NMO), which can be indistinguishable at the time of clinical onset. There is increasing evidence that these disorders begin in childhood and adolescence, and correct classification is necessary for prognostic and treatment purposes. With the exception of NMO, there are no specific biological markers to confirm the diagnosis of either MS or ADEM. In addition, it is important to consider that children with an acute encephalopathy may have a different autoimmune process. The clinical presentation of psychosis-like symptoms, seizures, and abnormal movements is related to AntiNMDA receptor antibody encephalitis. A similar multifocal neurological syndrome is associated with autoimmunity to voltage-gated potassium channel (VGKC-ab). Clinical and neuroimaging phenotypes are likely to overlap amongst these disorders regardless of their working definitions. The ability to make an accurate diagnosis as early as possible is essential for patient management, counseling, and optimal therapy.
S3 receives during this time shapes the development of these neural pathways. Even though babies are not producing language this early on, the language that they hear from others will be laying the foundations in the brain for their own production of language at a later stage. As we know, this is the case in infants born with a hearing impairment for whom significantly degraded language input in the critical first few months of life impacts severely on their spoken language development. Early identification of hearing loss and early intervention can mitigate these effects.
2PS2. Diagnosis and treatment in immune mediated neurological disorders 2PS2.1 Autoantibodies in disorders of the central nervous system A. Vincent1 *. 1Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, United Kingdom In recent years it has become clear that there are autoantibodies associated with central nervous system disorders which respond to immunotherapies that reduce the levels of the specific antibodies. Antibodies to voltage-gated potassium channel complex antigens (Lgi1 and Capsr2) are found in patients with the rare Morvan’s syndrome or more commonly in a form of limbic encephalitis; these antibodies fall rapidly after immunotherapies and the patients generally make a substantial recovery. Antibodies to N-methyl-Daspartate receptors are found in a complex encephalopathy most frequent in younger adults and children; this condition can be associated with ovarian (or rarely other) teratomas and the patients often have a prolonged illness but most recover after removal of the tumour and/or immunotherapies as appropriate. Other antibodies associated with different clinical syndromes are now being identified and will be described. These diseases are of considerable scientific and clinical interest and are beginning to be recognised worldwide. 2PS2.2 Differential diagnosis in autoimmune/inflammatory diseases of CNS S. Tenembaum1 *. 1 Department of Neurology, National Paediatric Hospital “Dr. J. P. Garrahan”, Buenos Aires, Argentina Autoimmune/inflammatory diseases of CNS comprise a wide range of disorders, from transient syndromes such as acute disseminated encephalomyelitis (ADEM), to life-long diseases like multiple sclerosis (MS) and recurrent neuromyelitis optica (NMO), which can be indistinguishable at the time of clinical onset. There is increasing evidence that these disorders begin in childhood and adolescence, and correct classification is necessary for prognostic and treatment purposes. With the exception of NMO, there are no specific biological markers to confirm the diagnosis of either MS or ADEM. In addition, it is important to consider that children with an acute encephalopathy may have a different autoimmune process. The clinical presentation of psychosis-like symptoms, seizures, and abnormal movements is related to AntiNMDA receptor antibody encephalitis. A similar multifocal neurological syndrome is associated with autoimmunity to voltage-gated potassium channel (VGKC-ab). Clinical and neuroimaging phenotypes are likely to overlap amongst these disorders regardless of their working definitions. The ability to make an accurate diagnosis as early as possible is essential for patient management, counseling, and optimal therapy.