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This study improves the knowledge of early autistic symptomatology and research concerning (i) the significant differences in the behaviors of children with autistic disorder (AD) and children with a developmental delay (DD), and (ii) the influence of the cognitive delay on symptomatology.Two groups of 20 young children (7-42 months) were compared: children with AD, and those with DD. The groups were paired by chronological and developmental age. The comparison was extended to four subgroups composed according to age (younger and older children--24 months,24 months) and to the global development quotient (GDQ) (the more and less delayed). Each child was evaluated with the Infant Behavior Summarized Evaluation scale (IBSE).For the younger AD children, significant differences affected social communication and their adaptation to the environment (intolerance to frustration, resistance to change). For the older children (24 months), this study showed the rapid progression of the number of distinctive signs between AD and DD children according to age and/or developmental level.Cognitive delay has an important influence on the symptomatology at the moment of initial recognition of an autistic syndrome. This study is a complement for the fuller understanding of the nature and early diagnosis of disorders specific to autism at the earliest phases of development.

The Revised Behaviour Summarized Evaluation Scale (BSE-R) was developed for the objective evaluation of autistic behaviours in order to facilitate the recording of the evolution of developmentally disabled children. Among its 29 items, 13 items that precisely describe the degree of autistic behaviours were extracted by Principal Component Analysis. We hypothesised that these relevant behaviours could differentiate autistic behaviour profiles in a population of children previously diagnosed as typically autistic. For this purpose, we used an original multivariate descriptive statistical approach, Correspondence Analysis, which can help in detecting structural relationships among variables. In a population of autistic children initially diagnosed using DSM-III-R criteria, this procedure proved effective in identifying new main dimensions of behaviours among the 13 previously defined core autistic symptoms. Cluster analysis, which followed factorial analysis, allowed the identification of three meaningful behaviour profiles separated principally on the basis of two main functions, perception and imitation, which have been always considered to be fundamentally involved in autistic syndrome. The individualisation of homogeneous subgroups of children on the basis of the behavioural evaluation provides a potentially useful starting point for further biological and therapeutic studies.

Infantile autism is a pervasive developmental disorder characterized by disturbances concerning not only the areas of socialization and communication ("aloneness") but also the ability to modify and change behavior ("need for sameness"). In most recent studies, various abnormal and deviant cognitive activities, such as the ability to regulate one's behavior, were considered as accounting for these signs. In this report, we examined the regulation of cognitive activity, from a developmental perspective in comparing autistic with mentally retarded children matched in a pairwise manner by global, verbal, and nonverbal developmental ages. All children were tested with tasks adapted from the Object Permanence Test which corresponds to Piaget's sensorimotor development Stages IV to VI. Results showed that autistic children had a pervasive difficulty in maintenance set, made more perseverative errors when the abstraction degree of task was higher, and were more variable in their behavioral strategies. Discussion is focused on the interests and limits of these tasks for the examination of regulation activity from diagnostic and developmental perspectives. Finally, interpretations about recent neuropsychological and neurophysiological works, and additional interdisciplinary studies are suggested.

Ratings of family home movies of 12 infants (0 to 2 years old) who were later diagnosed as autistic and 12 normal infants were performed by two diagnosis-blind psychiatrists with Infant Behavior Summarized Evaluation scale. The objective was to identify early symptoms of autism and their intensity and frequency before and after 1 year of age. Several pathological types of behavior related to socialization, communication, motility, and attention were noted during the first year of infant life and differentiated autistic and normal groups. These same differentiating behaviors, observed again in the second year, were more intense and associated with other pathological types of behavior, in particular, gaze avoidance, hypoactivity, and absence of emotional expressions. Analysis of the evolution of behavioral pathology in autistic children as a group during the 2 first years of life confirms the persistence of and the increase in some types of abnormality related to socialization, communication, motility, and attention functions. The limitations and values of this study concerning the early identification of autistic symptoms and functional impairments from home movies for diagnosis and establishing individualized treatment program are discussed. J. Am. Acad. Child Adolesc. Psychiatry , 1993, 32, 3:617–626.

We tested for an association between autism and genes coding for enzymes involved in monoaminergic metabolism and for a linked marker, c- Harvey-Ras-1 (HRAS 1), using restriction fragment length polymorphisms. We did not find evidence of an association between autism and genes coding for tyrosine hydroxylase, dopamine- β -hydroxylase (DBH), and tryptophan hydroxylase. However, we report a positive association between autism and the locus containing the gene for HRAS-1.

The Infant Behavioral Summarized Evaluation (IBSE) is a rating scale adapted from the Behavioral Summarized Evaluation (BSE) and specifically related to the assessment of behaviors of young children having autistic disorders. Content validity and reliability studies described in the paper were made from behavior ratings of videotapes for 89 children aged from 6 to 48 months. Results show a significant group of 19 items including some characteristic early autistic behaviors (communicative and social abnormalities) and some that are less commonly described in the syndrome (attentional, perceptive, and adaptive disorders). The value of the use of this scale for clinicians and professionals involved in behavioral evaluations and treatment of young children with developmental disorders and the necessity for further psychometric investigations are discussed.

Preliminary analyses of 12 home movies taken by parents before the recognition of autistic disorders of their own child confirm the major value of this method for describing early signs: anomalies of eye contact, deficient variability of emotional expression, defect of attention and initiation of communication, motor abnormalities, etc. The possibilities of subsequently using these documents in a research context are described: behavior assignment with a rating scale, comparative analysis with movies of normal children, blind examination, and scoring by investigators not informed of the diagnosis.

Children with epilepsy are exposed to learning disabilities. In young children, still not taught reading, spelling or mathematics, the standardized psychometric evaluation provides a usefull assessment tool enabling identification of the structural disturbances that will affect the learning process. For school-age children, assessment can be made in regard to the DSM IV criteria of specific learning disabilities, and within a neuropsychological framework that pays a particular attention to the executive functions.

Known since the first descriptions in 1943, diseases related to autism and associated disorders have incited a growing body of work. Both theoretical interrogations (what is the pathogenic role of autism?) and practical measures (management, screening) are implied. Nevertheless the frequency of autism-related disease has varied from 10 to 37% depending on the series reported. We studied the frequency of these factors in a population of children with major development disorders cared for at the Tours university hospital over a 39-month period.We reviewed retrospectively the medial features of 295 children examined in our psychiatry and neurophysiology unit for children at the Tours center for major development disorders (based on the DSM IV diagnostic criteria) between September 1995 and December 1998. We divided these factors into 4 categories: hereditary diseases, serious medical conditions, minimal physical disorders and ante- or perinatal antecedents.Among these 295 children, 26.5% had a proven or probable hereditary disease, 19% had a serious medical condition and 21.7% had minimal physical disorders. Among the children with a serious medical condition, 34.4% also had ante- or perinatal antecedents. Among the 33% without any medical factor, 77% also had ante- or perinatal antecedents.Our data point out the quantitative importance of medical factors associated with major development disorders. They imply a close multidisciplinary collaboration between child psychiatrists, pediatricians and geneticists in order to identify these disorders and develop an integrated management scheme. On a more theoretical level, it appears possible to identify subgroups of children among such a population based on associated diseases and neuropsychological patterns. This dimension would be useful for research into the pathogenic mechanisms involved.

Rett's syndrome progresses in 4 stages: the first signs of the disorder appear after a period of 6 to 7 months, during which development is considered to be normal. This asymptomatic period is apparently an essential criterion of the diagnosis, but some parents have reported some prodromes. In stage II of the disease (before 3 years), signs common with autism dominate the clinical picture and the diagnosis of the latter was often formulated. Our working hypothesis is that the pedopsychiatric analysis of home movies of young girls with Rett's syndrome, taken by the parents before the age of 2, may be able to show early clinical signs. The present study involved examining home movies of children subsequently diagnosed as having Rett's syndrome (n = 9) in comparison to those of autistic (n = 9) and normal (n = 9) children, using semiological evaluation tools (IBSE, BFE). The persons scoring were not advised of the diagnosis. The observations were thus situated before the disorders and/or at the time of their appearance. The study confirms the asymptomatic interval between birth and the first signs of the disease, it defines the mode of onset and shows the disturbance of certain functions such as intent and imitation, more pronounced in Rett's syndrome children between 12 and 18 months. At this age, it also enables Rett's and autistic children to be differentiated on the basis of the different involvement of the "cognition" function and unusual posture, more pronounced in these girls. It does not, however, differentiate Rett's from autism between 6 and 12 months and it is thus not surprising that at this stage the diagnosis of rett's syndrome or autism may be a source of confusion.

Tuberous sclerosis is often associated with developmental and behavioural disorders including typical or partial autistic syndrome. However, it may be difficult to recognize tuberous sclerosis behind an infantile autism during the early stages of the disease. Therefore, tuberous sclerosis must be regularly looked for on the basis of its major and minor criteria in any cases of infantile autism. The child psychiatrist is preferentially involved in the management of the various aspects of this association, ie, behavioural or character disorders, difficulties in social relationships and communication, mental retardation, feeding disorders, and psychological consequences for the families. The support provided may be complemented by that offered by the Association for Bourneville's tuberous sclerosis.

Natural history of infantile autism goes from its first description to current classifications. Most authors agree upon the perfect character of Kanner's description in 1943. But its situation in the nosography has much developed. The parution of 4th edition of Diagnostic and Statistical Manual of mental disorders (DSM IV) bring us to analyse this evolution and the place of autistic disorders in the pervasive developmental disorders, with this of associated pathologies. The comparison of current classifications (DSM IV, ICD 10, CFTMEA) allows us to do correspondence between each diagnostic category in psychosis or developmental disorders of these classifications. It exists a real concordance between DSM IV and ICD 10. The french classification of child and adolescent mental disorders (CFTMEA) proposes original categories.

Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3' end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3' marker used in the initial study and an additional marker in exon 1.

A large number of investigation techniques are used to establish the relationships between the clinical and biological data which are necessary for physiopathological analysis in the field of developmental disorders. It therefore seemed necessary to develop a quantified grouping system, based on developmental assessments, which could allow closer matching between clinical evaluations and biological numerical data. Two hundred and two subjects presenting developmental disorders (autistic disorder, pervasive developmental disorder not otherwise specified and mental retardation) were examined. For each child, a quantification of autistic behaviour, intellectual impairment, neurological signs and language and communication disorders was performed. A cluster analysis of these quantified data elicited four subgroups according to the scores obtained in these four different areas. We showed the value of this approach by applying it to one of the studies of monoamines routinely examined in childhood autism--dopamine and HVA, its main urinary derivative. Moreover, this method revealed a subgroup within the total population which was independent of nosographic classification and which had a particular clinical and biochemical profile. Other applications could follow, for example in the fields of neurophysiology, cerebral imaging, molecular biology and genetics.

Epidemiological data and family studies in autism show that there is a genetic susceptibility factor in the aetiology of this syndrome. We carried out an association study in infantile autism. Two markers of the homeogene EN2 involved in cerebellar development were tested in a population of 100 autistic children and in a population of 100 control children. With the MP4 probe showing a PvuII polymorphism, significant differences in the allele frequencies between the two populations were found (chi 2 = 7.99, df = 1, p < 0.01). With the MP5 probe showing an SstI polymorphism, no difference appeared (chi 2 = 1.17, not significant). Several clinical examinations allowed us to characterise the autistic children. Most of them had high scores for autistic behaviour and language disorders but low scores for neurological syndromes. Two children had a significant family history and six children had confirmed syndromes or diseases of genetic origin. Discriminant analysis between clinical and molecular data did not give significant results. These preliminary results must be supported by further analyses of this gene and by studies of its potential involvement in the pathophysiology of the autistic syndrome.

The aim of this study was to explore two markers of the Insuline (INS) gene and one marker of the Insuline-Like Growth Factor 2 (IGF2) gene by Polymerase Chain Reaction (PCR) in larger samples of autistic and control children

Many mentally retarded autistic children can understand the concept of object permanence, but, in comparison to developmental-age matched normal children, the behavioral strategies they employ in carrying out the Casati-Lezine Object Permanence Test are deficient and lead to failure. These deficiencies appear unrelated to interference of stereotypic or other bizarre behavior in task performance. Similar problem-solving deficiencies can be found in mentally retarded children who are not autistic, suggesting that the deficiencies themselves are less related to the social-communication deficits of autistic children, but more to the general problem-solving difficulties found in children with a lower developmental quotient. Nevertheless, the qualitative analysis of results shows a tendency in autistic children, despite their better developmental level, to use less coordinated and regular sequences to solve the task than normal or mentally retarded children.

The analysis of 11 home movies taken by parents before the recognition of autistic or atypical disorders of their own child has confirmed the major value of this method for describing early pathological signs. Symptomatology analysis has revealed anomalies of eye contact, a deficiency and variability of emotional expression, a defect of attention and initiation of communication, as well as motor abnormalities. The comparison of the frequency of abnormal behaviour, assessed with a rating scale among three groups of children (autistic, pervasive developmental disorders and normal) revealed behavioural differences as a function of early age and diagnosis, which concern not only social and communicative behaviours, but those of emotion and attention as well. The limits and interest of this methodological approach are discussed and the possibilities of subsequently using these documents in a more complete method, such as blind examination and scoring by uninformed investigators, are suggested.

The Behavioral Summarized Evaluation (BSE), is a 20-item paper- and-pencil rating scale specifically designed for the measurement of behavioral parameters which could be related to biological data in autistic children involved in educational programs, neurophysiological studies, and therapeutic trials. The development of the scale, the validity, and reliability studies are presented in this paper. The results suggest that the BSE is an acceptable tool for the assessment of autistic behaviors, easy to handle, and accessible to both professionals and paraprofessionals of the medico-educative staff. It is a useful addition to the bioclinical researcher's evaluation battery for bioclinical and therapeutic studies. However, more work is suggested to further investigate the psychometric properties of this behavior assessment instrument.

Clinical studies of early symptoms are among the most significant advances achieved during recent years in the field of autism. The first descriptions of early symptoms were retrospective and lacked precision. Autistic children are now being seen increasingly early and new insight is being gained into the initial manifestations and differences in clinical patterns. Similarly, differential diagnosis problems (borderline forms) are changing as clinicians evaluate children at younger ages. Although a definitive diagnosis is neither possible nor even desirable before the age of 18 to 24 months, detailed clinical data should be collected early. This data forms the basis for differential diagnosis and will be needed later for differentiating various clinical patterns of developmental disorders, establishing a prognosis, and monitoring therapeutic effects. In prospective longitudinal studies of autistic children, comparison of recent observations with detailed early data is essential. Early initial evaluation includes videotape recordings, assessment of cognitive functions and communication skills, and use of a scale for autistic symptoms. Using the results of evaluations of very young children, a specific semiology (communication disorders) can be developed. Several symptoms probably denote neurophysiologic and/or perceptive disorders. Primary symptoms are now being better distinguished from secondary anomalies (behavior disorders) that may be avoidable or treatable.

SUMMARYAn epidemiological study and the simultaneous evaluation of anti-Hav antibody using radio immunoassay (RIA) and immunoadherence hemagglutination assay (IAHA) was performed during three hepatitis A epidemics in the Tours area (France). Fifty-seven sera from 35 subjects with viral hepatitis type A and 16 sera from nine children who did not develop any clinical signs of hepatitis were studied. The more explosive epidemic occurred in an institution for mentally retarded children (attack rate 68%). The two major outbreaks observed were due to the introduction in the institutions of individuals infected with hepatitis A virus. Two out of three of the index cases had a seafood dinner three to four weeks before onset of jaundice. Sera taken one week after jaundice were always found to be anti-HAV positive by both RIA and IAHA, and sera taken more than three days before the appearance of jaundice were negative by both methods. Sera taken at the peak of the transaminase elevation were anti-HAV positive by RIA but only one out of two were positive by Iaha. The anti-HAV titre by RIA increased from the time of the appearance of jaundice and the highest titres, over 1/20000 were seen only after several months. Observations of subjects in close contact with patients who seroconverted without any manifestation of hepatitis, confirmed the existence of clinically mute infections.

The modified Behavior Observation Scale adapted from Freeman et al. was used to compare normal, retarded, and autistic children with very low developmental ages and to determine the types of behavior that could differentiate these three diagnostic categories of children. Examination of the data revealed that there was much more overlap between autistic and retarded children than between autistic and normal children. However, a behavioral pattern of autism could be delineated and very retarded autistic children could be distinguished from the nonautistic retarded children. The autistic behavioral pattern included subclusters of symptoms that might be interpreted as disturbances of sensory modulation and motility.

A psychiatric consultation service has been implanted for the last 15 years at the Children's Hospital of Tours. It co-ordinates pediatric psychiatric activities on the various wards of this large pediatric center (200 beds). All pediatric psychiatry personnel belong to this autonomous unit which plans their work: clinical care and liaisons, teaching and research activities. This unit manages 1,000 cases a year: 20% of children are aged 0 to 2 years, 40% are under 5 years of age. This type of structure in a university pediatric hospital fosters considerably an early diagnosis and the prompt triaging of children to the services available in their home districts for appropriate care. Furthermore, it facilitates a comprehensive approach with appropriate integration of the somatic and of the psychodynamic dimensions of the child. This type of implantation constitutes a significant step forward in the field. However, its professional activities are handicapped because of the discrepancy between resources made available to psychiatry and pediatrics due to the failure to take into account the type of interventions required of the pediatric psychiatrist. In the hope of remedying these problems of evaluating the services distributed by psychiatry to young children hospitalized in clinical units, we present a specific nomenclature, elaborated after several years of experience. It classifies services in four large categories: Consultation and liaison in in-patient care units; chronic care carried out on a part time basis; admissions to the Pediatric Psychiatry Unit in beds belonging to various pediatric services; complete workups in day care beds.

The Rimland E2 questionnaire was applied to three groups of children for whom clinical diagnoses of Infantile Autism, Autism with Associated Symptoms, and Mental Retardation had been made, as well as to normal controls. The results confirm that the Rimland scale is accurate in differentiating autistic from nonautistic children. But the scale does not appear to permit clear differentiation of infantile autism from autism with associated symptoms, and the more typical autistic children (diagnosed as Kanner's EIA) did not all yield high scores. Several possible explanations for this fact are put forward.

The various aspects of the placement of young children on medical indications are considered on the basis of a pediatric and psychiatric study carried out in the Indre et Loire French department. The aim of the study is not to criticize the personnel in charge of the placements or the quality of the institutions, but to show how a generally satisfactory practice may also entail unrecognized risks. At present, placements solely for medical indications are unusual, and the reasons for such placements are largely psychological and/or social. Supervision of placement decision should be entrusted to competent services, and all decisions should be taken according to the best interest of the children.

We have studied disturbances in dopamine metabolism by assaying HVA in urines of 44 autistic children. First a clinical study identifies the main clinical symptoms. This allows to differentiate between "pure" autistic children and autistic children with associated signs. Urinary HVA was significantly higher in autistic children and there was a relationship between severity of autism and HVA levels.