[Can we cure autism? From outcome to intervention]. / Podemos curar el autismo? Del desenlace clinico a la intervención.

Outcome in autism is variable but with a significant trend toward a poor prognosis and despite reports that outcome in individuals with autism may be improving secondary to early intensive interventions there is still much to be learned about the natural history and the effects of intervention in autism spectrum disorders. While there may not be a known cure for autism, there are a number of viable treatment options available. The primary models of treatment are non pharmacological interventions that include intervention models such as applied behavior analysis and developmental and structured teaching. The role of pharmacological interventions is limited to treating specific symptoms that may be interfering with a child's ability to learn or function within a particular environment. The question of whether or not we can cure autism needs to be discussed in terms of the need to overcome the as of yet poorly understood fundamental disturbance in autism and the need to develop treatment protocols specifically targeting social deficits. At the present time, it is more appropriate to speak of our quest to understand autism than it is to speak of a cure.

[The social deficit in autism: focus on joint attention]. / Déficit social en el autismo: un enfoque en la atención conjunta.

INTRODUCTION AND DEVELOPMENT: Autism is best thought of as a spectrum disorder with the dimensional components of social cognition, communication and flexibility varying between individuals meeting the criteria of autism. The core clinical feature that defines autism is a disturbance in social interaction which is not absolute and differs depending on a child's cognitive level, developmental stage, and the type of social structure in which they are observed. Social skills are under strong genetic influence with a continuous distribution of social interaction deficits in the general population with arbitrary cutoffs defining who is and is not affected with an autism spectrum disorder; this is the result of a complex interplay between numerous biological and environmental factors. Joint attention refers to the capacity of individuals to coordinate attention with a social partner in relation to some object or event and a disturbance in this early skill and in particular impairment in the ability to initiate joint attention, is a central symptom of autism. CONCLUSIONS: There are data to suggest that dorso-medial frontal cortex and anterior cingulate contribute to the development of an infant's ability to maintain representations of self, a social partner and an interesting object. The ability to engage frequently in social orienting behaviors and ultimately in numerous episodes of social attention coordination, or joint attention, may be a critical experience during a particular developmental window that serves to organize social neurodevelopment. A neurodevelopmental model explaining how these early deficits in social cognition may lead to autism is reviewed.

[Neurodevelopmental disorders and epilepsy]. / Trastornos del neurodesarrollo y epilepsia.

INTRODUCTION AND DEVELOPMENT: Neurodevelopmental disorders and the epilepsies share common etiologies and pathologies. The severity of impairment and the variety of symptoms associated with neurodevelopmental disorders or with particular epilepsy syndromes reflect focal or global, structural or functional dysfunction of neuronal networks. The complex relationship between neurodevelopmental disorders and epilepsy is secondary to common factors that include genetics, cognition, motor and language function. The epileptic encephalopathies are associated with regression or slowing of cognitive, language or behavior and the accepted working hypothesis is that this is a direct consequence of the seizures or of the interictal epileptiform activity, as opposed to the associated medical condition. The evidence that recurrent seizures or abnormal electrical activity can cause specific cognitive, language or behavioral abnormalities even in accepted epileptic encephalopathies is still controversial. Data from animal studies and the clinical experience from epileptic encephalopathies of early life imply that there are developmental time windows crucial to the type of epilepsy syndrome and to cognitive and behavioral outcome. CONCLUSION: The management of children in whom a neurodevelopmental disorder coexists with epilepsy is a difficult problem that requires a multidisciplinary approach that addresses both the epilepsy and the specific cognitive or behavioral problem and is tailored to the needs of the individual child.

[Management of children with autism spectrum disorders]. / Manejo de los niños con trastornos del espectro autista.

INTRODUCTION: Autistic spectrum disorders (ASD) are characterized by qualitative deficits in communication, social skills and a restrictive repertoire of interests and behaviors. Recent studies suggest that they may represent one of the most prevalent neurodevelopmental disorders. METHOD: Treatment of core deficits of ASD are primarily speech and language, behavioral and educational interventions. Clinical management of ASD requires a multidisciplinary approach to identify behaviors that could interfere with the individual s ability to benefit from those interventions. Medications, such as neuroleptics, antiepileptic drugs, SSRI s, neurostimulants and others have been used to target specific behaviors. CONCLUSIONS: Further research is much needed if medications are eventually to have a greater role in the treatment of core ASD symptoms. Recent attempts at neurosurgical interventions cannot be justified by our present level of knowledge

[Communication interventions: windows of opportunity]. / Intervenciones comunicativas: ventanas abiertas a una oportunidad.

OBJECTIVE: An understanding of how verbal and non verbal language develops and how it is related to social behavior is essential in order to devise effective interventions for children with disorders of communication. We review the literature on interventions for children with communication disorders from the perspective of the clinical neurologist emphasizing both therapeutic and pharmacological interventions. FINDINGS: Our knowledge on effective interventions in children with disorders of communications is limited due to the heterogeneity of the population and the lack of well controlled studies. There is some limited data suggesting that therapeutic interventions for children with language impairments are most effective if all forms of communication are emphasized. Interventions should be adapted to the age of presentation and associated clinical findings of the child. CONCLUSIONS: A multimodal intervention approach is essential to maximize the potential of children with communication disorders. The role of medication in interventions for children with disorders of communication is limited to the treatment of associated symptoms that may interfere with the ability of a child to receive non pharmacological therapeutic interventions.

Antiepileptic drugs: affective use in autism spectrum disorders.

Antiepileptic drugs are widely administered to individuals with autistic spectrum disorders. There are several reasons for the use of antiepileptic drugs in autistic spectrum disorders, including the high incidence of epilepsy in these individuals, the anecdotal reports suggesting an improvement of communication and behavior in autistic subjects with epileptic discharges, and the increased awareness that some disruptive behaviors may be manifestations of an associated affective disorder. In this study, data on the current use of antiepileptic drugs in the treatment of autism, and on the association of affective disorders with epilepsy and autism, are reviewed. The evidence supporting the hypothesis that there may be a subgroup of autistic children with epilepsy and affective disorders that preferentially respond to antiepileptic drugs is still very preliminary, and further investigations with double-blind controlled studies are needed. Although the role of antiepileptic drugs at the present time is not established, there is evidence that autism, epilepsy, and affective disorders commonly co-occur, and that they may share a common neurochemical substrate, which is the common target of the psychotropic mechanism of action of different antiepileptic drugs.

Tratamiento del trastorno por déficit de atención con hiperactividad / Treatment of attention deficit and hyperactivity disorder

El trastorno de deficiencia en la atención e hiperactividad (TDAH) tiene un impacto en el niño con TDAH, en la familia y en otros niños con o sin TDAH. El propósito de esta revisión es evaluar nuestra comprensión actual de las diferentes opciones de tratamiento para el TDAH y discutir, desde el punto de vista clínico, cómo conducir a los niños que presentan dicho trastorno. La función del clínico al asumir la responsabilidad primaria por el tratamiento del TDAH es la de sintetizar e integrar la información diagnóstica y guiar al individuo y a sus padres hacia un enfoque racional del tratamiento. El éxito de este último presupone la capacidad de coordinar un esfuerzo conjunto por parte de un equipo de profesionales. Es posible organizar el ambiente de forma que se puedan atenuar los síntomas asociados con el TDAH, sin embargo, los síntomas centrales en este trastorno responden mejor a los medicamentos estimulantes. La función del clínico es la de mantenerse informado y capaz en relación con las diferentes modalidades terapéuticas que se proponen para el tratamiento del TDAH y transmitir nuestra comprensión científica actual del problema a todos aquellos involucrados en el cuidado del individuo con este trastorno crónico y complejo (AU)

Language regression in childhood.

Language regression is observed both in autistic regression and as part of acquired epileptic aphasia (Landau-Kleffner Syndrome). We prospectively identified 177 children with language regression at four major medical centers, and their clinical characteristics were recorded. Their mean age at regression was 22.8 months. The mean time-to-specialist referral was 38 months of age. Most children (88%) met criteria for autism or manifested autistic features. Males (P = 0.02) and children less than 3 years of age who regressed (P = 0.016) had a higher probability of developing autistic behaviors. Seizures were more common in children who regressed after they reached 3 years of age (P < 0.001), and children with seizures were less likely to have associated autistic regression (P < 0.001). Electroencephalogram abnormalities were reported in 37% of patients and were more common in children with seizures (P < 0.001). At last follow-up, language function was impaired in 88% of the children, although some improvement was noted in 57%. We conclude that the loss of previously acquired language at any age, even if that language only includes a few words or communicative gestures, is often associated with a more global regression in cognition and/or behavior and has serious implications for future function. Early identification and referral of these children is necessary to allow for diagnosis and intervention.

Effect of interactive metronome training on children with ADHD.

OBJECTIVE: The purpose of this study was to determine the effects of a specific intervention, the Interactive Metronome, on selected aspects of motor and cognitive skills in a group of children with attention deficit hyperactivity disorder (ADHD). METHOD: The study included 56 boys who were 6years to 12 years of age and diagnosed before they entered the study as having ADHD. The participants were pretested and randomly assigned to one of three matched groups. A group of 19 participants receiving 15 hr of Interactive Metronome training exercises were compared with a group receiving no intervention and a group receiving training on selected computer video games. RESULTS: A significant pattern of improvement across 53 of 58 variables favoring the Interactive Metronome treatment was found. Additionally, several significant differences were found among the treatment groups and between pretreatment and posttreatment factors on performance in areas of attention, motor control, language processing, reading, and parental reports of improvements in regulation of aggressive behavior. CONCLUSION: The Interactive Metronome training appears to facilitate a number of capacities, including attention, motor control, and selected academic skills, in boys with ADHD.

Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society.

Autism is a common disorder of childhood, affecting 1 in 500 children. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Early identification of children with autism and intensive, early intervention during the toddler and preschool years improves outcome for most young children with autism. This practice parameter reviews the available empirical evidence and gives specific recommendations for the identification of children with autism. This approach requires a dual process: 1) routine developmental surveillance and screening specifically for autism to be performed on all children to first identify those at risk for any type of atypical development, and to identify those specifically at risk for autism; and 2) to diagnose and evaluate autism, to differentiate autism from other developmental disorders.

The influence of premorbid language skills and behavior on language recovery in children with verbal auditory agnosia.

Previous studies of children with Landau-Kleffner syndrome and related language-epilepsy syndromes have focused on the relationship of seizure control to language recovery. We examined the effect of premorbid language skills and behavior, as well as some characteristics of clinical seizures and electroencephalograms, on language recovery in a retrospective study of 67 children with the severe receptive and expressive language disorder, verbal auditory agnosia. Fifty-eight percent of these children had seizures, 76% were autistic, and 24% had a history of language regression after showing previously normal language skills. The duration of language loss was not influenced by the persistence of clinical seizures. Premorbid language and behavior were more predictive of language recovery in these children. Most children with normal early language (acquired verbal auditory agnosia) had onset of language loss after age 3 years, in contrast to those with abnormal early language. Children with acquired verbal auditory agnosia were more likely to show fluctuations in language skills than those in other groups. Autistic children were more likely to begin having seizures before age 3 years, and had a longer duration of language loss and lower educational placement at time of last follow-up than those with normal behavior. This study emphasizes the importance of assessing premorbid language and behavior in predicting recovery of language skills in children with language-epilepsy syndromes.

A child with severe head banging.

We present a 7-year-old boy with a developmental disorder presenting with severe head banging. Clinical evolution was consistent with diagnosis of autistic spectrum disorder, obsessive compulsive disorder, stuttering, and Tourette's syndrome. This report emphasizes the overlap between developmental disorder phenotypes. There is a need to understand the natural history and relationship of specific symptoms that occur in developmental disorders to devise effective and appropriate intervention strategies.

The screening and diagnosis of autistic spectrum disorders.

The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.

[Neuroanatomical, neuroradiological and functional magnetic resonance imaging correlates of developmental dyslexia]. / Correlatos neuroanatómicos, neurorradiológicos e imagenológicos de resonancia magnética funcional con la dislexia del desarrollo.

Neuropathological data in dyslexia has demonstrated alterations in the symmetry normally present in the planum temporale, as well as microdysgenesis in superficial cortical layers and disruption of the cytoarchitecture in subcortical structures. Neuroradiological and functional neuroimaging studies in dyslexia are consistent with localization of dysfunction to the temporoparietal junction. Present neuropathological and neuroimaging data support the concept that the fundamental problem in developmental dyslexia is a phonologic deficit. Present neuroimaging technology has increased our understanding of the pathophysiology of dyslexia. Functional neuroimaging may allow for the investigation of the effects that treatment of dyslexia has on brain plasticity.

[Treatment of learning disorders]. / Tratamiento de los trastornos del aprendizaje.

INTRODUCTION: The child neurologist, developmental pediatrician or child psychiatrist involved in the care of children with learning disabilities has a crucial role that extends beyond diagnosis. DEVELOPING: Despite the lack of sound scientific studies on treatment interventions for children with learning disabilities there are specific interventions that are helpful in the remediation of children with learning disabilities. CONCLUSIONS: The role of the health professional in the treatment of learning disabilities includes: 1. Making specific recommendations regarding early intervention strategies; 2. Putting into a neurological perspective the types of educational interventions that will maximize a child's potential; 3. Discussing the role of medications in the management of learning disorders, as well as using medications in appropriate situations, and 4. Coordinating the multimodal approach which is essential to the long term treatment of all children with learning disabilities.

Acquired epileptiform aphasia.

The acquired epileptiform aphasias, with Landau-Kleffner's syndrome as the example, represent an important group of syndromes in our quest to understand the relationship between epilepsy, language, and behavior. The controversy that truly frames the literature on the acquired epileptiform aphasias is the role of epileptiform activity on language, behavior, and cognition. This review expands the model of Landau-Kleffner's syndrome to include two other encephalopathies with language and behavioral regression in association with an epileptiform electroencephalogram. Both of these encephalopathies, autistic epileptiform regression and disintegrative epileptiform regression, are associated with an acquired language disorder. The developmental period in which the acquired language disorder begins, the type of language disorder, and the location and type of the epileptiform activity are all important variables that may affect clinical manifestations and prognosis.

Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates.

BACKGROUND: Approximately one third of the parents of children with pervasive developmental disorders or autistic spectrum disorders reports an early regression of unknown cause in their children's language, sociability, and play. Seizures or an epileptiform electroencephalogram (EEG) are associated with language regression in acquired epileptic aphasia (Landau-Kleffner syndrome) and some other pediatric epileptic syndromes. The importance of epilepsy or epileptic EEGs as contributors to autistic regression is not known. METHOD: Subjects were 482 boys and 103 girls on the autistic spectrum seen consecutively in consultation by one child neurologist. Data on autistic regression, seizures, sleep EEGs, and cognitive function were entered prospectively into a data base. RESULTS: Of the 585 children, 176 (30%) had a history of regression, and 66 children (11%) had a history of epilepsy, defined as two or more unprovoked seizures. Among 392 children with available sleep EEGs, the EEG was epileptiform in 59% of the 66 epileptic children and 8% of the 335 nonepileptic children. Regression had occurred equally among children without seizures and in those with epilepsy. Regression was associated with an epileptiform EEG in 14% of 155 nonepileptic children who had undergone a regression, as opposed to 6% of 364 children with neither regression nor epilepsy. Mean age at regression was 21 months. There was no difference in the proportion of children with epilepsy or epileptiform EEGs who had regressed before or after 2 years of age. Approximately half of the epileptiform discharges were centrotemporal, whether or not the child was epileptic or had regressed. Children with lower cognitive function were more likely to have undergone regression than those with better cognitive skills (34% vs 20%). CONCLUSION: Epilepsy or epileptiform EEGs occur in a significant minority of autistic children with a history of regression and in a smaller minority without regression. Prompt recognition of regression and recording of prolonged sleep EEGs is recommended, even though information on the potential efficacy of antiepileptic treatment to improve language and behavior in autistic children with epilepsy or an epileptiform EEG is still lacking.

[Pervasive developmental disorders: neurological perspectives]. / Trastornos pervasivos del desarrollo. Perspectiva neurológica.

The pervasive disorders of development (TPD) or disorders within the spectrum of autism (TEA) are two terms which are often used to describe a well-defined group of behaviour disorders characterized by changes in social interaction and language communication together with repetitive behaviour patterns. This group of disorders has multiple etiologies and the clinical manifestations vary in severity. In this study the incidence of a selected group of neurological changes and neurodiagnostic tests in 421 children with TDP is analyzed. 11% of the children had genetic disorders such as chromosomial disorders, genetic syndromes and family incidence. 18% of the children had motor disorders with hypotonicity being the commonest (85%). 71% of the children were stereotyped. 59% of the children had cogniscitive functions which were appropriate, or nearly so, for their chronological age, 28% of the children had language regression. 13% had epileptic crises. The electroencephalogram and cerebral magnetic resonance were abnormal in 29% and 19% respectively of the children on whom these tests were done.