The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Childhood epilepsy may cause cognitive disorders and the intellectual quotient is indeed not normally distributed in epileptic children, a fair proportion of whom show an IQ in the deficient range. Some epileptic syndromes happen during vulnerability periods of brain maturation and interfere with the development of specific cognitive functions. This is the case for the Landau–Kleffner syndrome, which generally appears during speech development and affects language. Similarly, West syndrome – or infantile spasms – is an epileptogenic encephalopathy appearing during the first years of life and induces a major delay in social and oculo-motor development. Specific impairments can also be identified in partial childhood epilepsies in relation with seizure focus localization. For instance, left temporal and frontal epilepsies are frequently associated with verbal impairments. Moreover, episodic memory disorders have been described in children suffering from temporal lobe epilepsy whereas executive deficits (planning, self-control, problem solving) have been reported in frontal lobe epilepsy. In most cases, including its mildest forms, childhood epilepsy induces attention deficits, which may affect academic achievement. These observations militate in favor of individual neuropsychological assessments as well as early interventions in order to provide the child with an optimal individualized treatment program.

The practice of pediatric neurology demands a high level of responsibility at multiple levels. These include listening carefully to people's stories in order to assess each situation, planning and implementing investigations and therapies, individual and family counseling, longitudinal follow-up from fetal life throughout childhood and adolescence, organization of transition to adult care, and societal advocacy. In the 21st century these activities must be carried out in the context of major societal and technological changes which have brought about many new challenges for pediatric neurologists. In this chapter, we address ethical and moral issues that may help guide pediatric neurologists with regard to a number of specific challenges. These include physician–patient relationships that are based on benign paternalism with respect for autonomy and promoting quality of life, practicing evidence-based medicine, and the technological imperative. In addition we discuss the tension between clinical practice and research, relationships between physicians and industry, and the public role of pediatric neurologists to advocate for children with neurological and developmental conditions. We also illustrate some challenges in selected situations such as prenatal counseling (fetal neurology), neonatal encephalopathy, and persistent vegetative state.

Seizures with fever that result from encephalitis or meningitis usually occur late in the course of febrile illness, and are focal and prolonged. Febrile seizures are by far the most common affecting 5% of the population, followed by posttraumatic seizures and those observed in the setting of a toxic, infectious, or metabolic encephalopathy. This chapter reviews the clinical presentation of the three most common forms, due to fever, trauma, and intoxication. Febrile seizures carry no cognitive or mortality risk. Recurrence risk is increased by young age, namely before 1 year of age. Febrile seizures that persist after the age of 6 years are usually part of the syndrome of Generalized epilepsy febrile seizures plus. These febrile seizures have a strong link with epilepsy since non-febrile seizures may occur later in the same patient and in other members of the same family with an autosomal dominant transmission. Complex febrile seizures, i.e., with focal or prolonged manifestations or followed by focal defect, are related to later mesial temporal epilepsy with hippocampal sclerosis; risk factors are seizure duration and brain malformation. Prophylactic treatment is usually not required in febrile seizures. Early onset of complex seizures is the main indication for AED prophylaxis. Early posttraumatic seizures, i.e., within the first week, are often focal and indicate brain trauma: contusion, hematoma, 24 hours amnesia, and depressed skull fracture are major factors of posttraumatic epilepsy. Prophylaxis with antiepileptic drugs is not effective. Various psychotropic drugs, including antiepileptics, may cause seizures.

“Psychomotor” development refers to changes in a child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence. It occurs in a variety of domains and a wide range of theories makes understanding children's development a challenging undertaking. Different models have tried to interpret the origins of human behavior, the pattern of developmental changes over time, and the individual and contextual factors that could direct child development. No single theory has been able to account for all aspects of child development, but each of them may contribute an important piece to the child development puzzle. Although theories sometimes disagree, much of their information is complementary rather than contradictory. The knowledge of child typical development and related theories and models is greatly useful for clinical practice, leading to recognition of developmental disorders and the ways in which they can be approached and treated. In this chapter, traditional and more modern concepts around functional development of psychomotor abilities are reported, firstly more in general and then specifically in the motor domain.

The autistic spectrum currently encompasses common precocious behaviourally identified constellations of social and communication atypicalities associated with restricted interests and repetitive behavior, together with uneven ability profiles. It is associated with multiple but heterogeneous genetic, functional, and structural variations whose established links with an autistic behavioral phenotype are as yet minimal. Strong evidence of high heritability contrasts with limited determination of genes and modes of transmission involved. Adaptation and outcomes vary widely according to opportunities, accommodation, and co-occurring conditions. With current diagnostic practices, multiple genetic conditions overlap with the autistic spectrum, with potential for confusion arising from phenocopies. Recent advances question the often presumed association between autism and intellectual disability and/or epilepsy. Autism is currently understood as a final common phenotypical pathway resulting from an indefinite number of genetic variations, possibly involving the same information processing pathways, and producing a variant in the way humans perceive, memorize, manipulate, and attribute emotional value to available information. Findings plausibly converge on more optional, rather than typically mandatory, hierarchies of information processing as fundamental to autism. Adaptation of education and employment according to individual strengths and needs, as well as attention to co-occurring conditions as necessary, remains today the best way to assist autistic individuals.

Primary attention-deficit/hyperactivity disorder (ADHD) is a familial neurodevelopmental disorder involving the frontostriatal pathways and probably connections with the cerebellum and parietal lobe. ADHD is a polygenetic disorder involving predominantly catecholaminergic receptors and transporters. Though more common in school age children, ADHD may persist into adolescence and adulthood. Comorbidity with other disruptive behavior disorders, anxiety disorders, mood disorders, and learning disability is common. Secondary problems with attention are associated with neurological disorders that involve damage to the frontal lobes, drugs and toxins, and some genetic syndromes. Questionnaires are helpful in the diagnosis and follow-up of ADHD, and neuropsychological assessment can be useful for assessing cognitive function. Behavioral therapies are usually combined with medication for treatment of ADHD. Problems with attention are more responsive to treatment with stimulants, but nonstimulant medications such as atomoxetine, and possibly other drugs, are also effective and may be particularly useful in children and adolescents with comorbidity. The response to pharmacotherapy is better in patients with primary ADHD compared to those with secondary problems with attention.

Malformations of cortical development (MCD) are now well established as a most prevalent and relevant etiology of medically refractory epilepsies in children and adolescents. Focal cortical dysplasia (FCD) and hemimegalencephalies (HMG) occupy a special status because their focality (or in the case of HMG, their unihemispheric distibution) makes them amenable to surgical treatment to attempt seizure control. Since interictal epileptiform discharges and frequent seizures can lead to abnormal development because of brain plasticity during early childhood, the aim of surgical treatment is not only seizure control but also the redirection of development toward more physiological paths. In this review, we propose an “imaging-semiological organization” including (1) patients whose dysplastic lesion surrounds the fronto-rolandic cortex with increased signal and a transmantle sign, (2) multilobar hemispheric lesions, predominating in the anterior or posterior quadrants with large areas of abnormal gyration, increased cortical thickness, and gray–white blurring, (3) anterior temporal dysplasias usually featuring volume reduction combined with blurring of the underlying white matter in the temporal pole, and (4) a very relevant group of patients with refractory seizures, normal or roughly normal intellect, and normal MRI, later shown to harbor microscopic “nidus” of dysplastic cells. Classification takes into account the cortical disorganization, the presence of aberrant cellular elements, and the association with other lesion types.

True microcephaly (head circumference ≤–3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and glial cells within the brain, resulting in reduced brain growth. Primary non-syndromal microcephalies are recessive disorders resulting from abnormal control of mitotic spindle and cell cycle kinetics in progenitor cells. Microcephaly is also a frequent sign of defects in DNA double- and/or single-strand break repair and in nucleotide excision repair, in which it often is associated with general growth impairment. In these etiologies, cognitive functions are reasonably well preserved despite severe reduction in brain volume. Neuronal migration defects are often associated with secondary microcephaly, as are anomalies of telencephalic cleavage. Secondary microcephalies are often associated with increased neuronal death, and can be associated with metabolic disorders such as serine deficiency or thiamine pyrophosphate transporter deficiency. Microcephaly can be associated with hundreds of syndromal congenital anomalies, including many chromosomal disorders. Genetic etiologies of developmental microcephalies are reviewed.