[Early diagnosis of autism: Phenotype-endophenotype].

Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the early diagnosis. Compared to the progress made for an early diagnosis of autism there is relatively no equal progress in the early intervention. However, some methods such as the 'Early Start Denver Model' which focuses in the family, which is the natural environment of the child, may provide a useful framework for effective work with the child and the family.

Phenomenology of anxiety and depressive disorders in children and adolescents.

In recent years, clinicians and researchers have demonstrated renewed interest in the study of anxiety and depression in children and adolescents. There is difficulty in determining the constituents' characteristics of, and distinguishing between, anxiety and depression. Further understanding of the phenomenology of these disorders may result from observation, by attending to the subjective experiences of the child and adolescent, and by studying the biologic factors associated with anxiety and depressive disorders. Despite the fact that much remains unknown concerning the disorders of anxiety and depression in children and adolescents, considerable progress has been made toward a better understanding of the phenomenology of depressive disorders in children and adolescents.

Histidinemia and infantile autism.

A 10-year-old boy first showed features of infantile autism at age 24 months. Histidinemia was also diagnosed, with histidine blood levels seven times higher than the upper normal values. If the coexistence of autism and histidinemia was not coincidental, histidinemia may have constituted a necessary but not sufficient factor leading to the clinical condition of autism. Other members of the patient's family had high blood levels of histidine, but did not show symptoms that have been related to histidinemia.

Psychiatric disorders in adopted children: a controlled study.

The number of adopted children referred to a Canadian psychiatric service was found to be greater than warranted by their ratio in the community. They presented more with conduct disorders and less with anxiety disorders and were significantly more impaired than the controls.

Worries of parents regarding the future of their mentally retarded adolescent children.

Responding to a questionnaire, a group of parents of mentally retarded adolescents, reported several worries regarding the future of their child. The welfare of the child in the event of the death of the parent seemed to preoccupy the majority of them. Several among them were embarked in an effort to secure financially the future of the child while others felt that could do very little about it. Two thirds expected assistance from community services while just over one third admitted of having received some assistance. It is held by the authors that the community has the duty to assist such parents.

Parent-rating and self-report measures in the psychiatric assessment of adolescents.

Thirty adolescents who received a psychiatric diagnosis based on the DSM-III clinical criteria were compared to 28 adolescents who were free of a diagnosis using the same criteria, on a parent-completed questionnaire (Revised Behavior Problem Checklist) and self-report measures (Revised Children's Manifest Anxiety Scale, Children's Depression Inventory, SCL-90-R). The two groups of adolescents were significantly distinguished by scores from the parent questionnaire but not by self-report measures. Possible explanations for the discrepant results are discussed. It is concluded that the parent measure may be used to reliably distinguish adolescents with psychiatric disorders from those free of similar disorders.

Parents of mentally retarded adolescents evaluate the past and face the future of their child.

This report deals with answers to a questionnaire given by 69 parents of retarded adolescents living in a community which, at the time of the study, offered little in terms of concrete services to mentally retarded persons. The inquiry concerned basically the parents' evaluation of the support they received from services or other sources and their concern about the child's future.

[The neurobiology of autism].

The research effort on autism has for several years been intensive. Recent progress in this field is due mainly to the development of increasingly sophisticated visualizing assessment methods of the brain. Most of the evidence reported in this review requires further replication and elaboration by ongoing research. Evidence from volumetric studies indicates that the brain of the child with autism deviates from normal paths at the early stages of development showing excessive growth during the first year and a half involving the hemispheres and the cerebellum. Post mortem studies have shown neuron abnormalities in the frontal and temporal cortex and the cerebellum. Studies using diffusion tensor imaging, an fMRI based method, have shown disruptions between white and grey matter in several areas of the hemispheres. Other studies investigating activation of the cortex showed lack of synchrony and coordination between anterior and posterior areas of the hemispheres. It has been suggested that the deviation in brain development in autism consists of excessive numbers of neurons which cause the cytoarchitectural deviation. A theory suggesting that the basic deficit in autism is due to dysfunction of the "mirror neuron system" requires further substantiation. The aetiology of autism is not known although risk factors have been identified. Predominant among them are genetic influences. The search is currently intensive for an understanding of the pathogenesis of the pathological deviation in the development of the brain in autism. Neurotrophic factors which determine the developmental steps of the brain are examined such as serotonin, brain-derived neurotrophic factor (BDNF), the neuropeptide reelin, neuroligines and others. There is evidence of some involvement of these factors with autism but it is still far from clear how they do interact with one another and how they lead to the pathological deviations observed in autism. The neurotrophic factors are evidently coded by genes which are being examined by geneticists. It has also been suggested that autoimmune responses while interacting with neurotrophic factors may be important for the autistic deviation in brain development. Limitations may exist in the interpretation of the study results on which the present review was based. These are probably due to inconsistencies among studies related to variability in the severity of the disorders and age among subjects, presence or not of mental retardation, differing assessment methods.

Uncertainties in aetiology and treatment of infantile autism--assumptions and evidence.

Uncertainty in the field of child psychiatry may at times lead to groundless assumptions about the aetiology and pathology of psychiatric disorders of childhood. Treatment based on non-validated assumptions may be ineffective and may cause more harm than good. The case is presented of infantile autism which was at first attributed by clinicians to a specific negative effect of parents on their children. Evidence grounded on research did subsequently refute the assumption implicating the parents in the aetiology of this disorder. An explanatory assumption can become evidence if it is tested and found valid. To avoid serious errors in the understanding and treatment of child psychiatric disorders, the clinician should always consider critically assumptions and opinion, provided in lieu of evidence.

Intrusion and internalisation of the devil: popular saints vs. the Fathers of the Church.

In early Christianity, and in the domain of Byzantium in particular, the devil's interference with man took two distinct forms which may be identified as "intrusion" and "internalisation". The intruding form of the devil was presented in the hagiographies of popular saints, while the internalisation form was presented and elaborated upon by the Fathers of the Church. Intrusion was the most striking and characteristic demonic interference with man. It was an invasion of the body by demons or impure spirits that took possession of the person and caused madness and other illnesses. The internalisation form of demonic interference was more subtle and sinister, and although it was not causing mental illness it was affecting the minds of people by inflaming passions and interfering with judgement, thus leading to erroneous actions, contrary to the commands of God. The two forms of demonic interference that were compatible one with the other and might coexist, emerged from the power of the devil. Intrusion was probably more appealing to and understood by the crowds of the peasants addressed by the popular saints while internalisation was better understood by the educated and the town people addressed by the Fathers of the Church. The two forms of demonic interference have had a lasting effect on religious and spiritual thought and practice till modern times.

Infantile autism in dizygotic twins. A case report.

This was a case study of a pair of dizygotic twins who both developed psychotic symptoms indicative of infantile autism at the age of 31--32 months. By the age of 5 years, when the children were evaluated, and over the 1 1/2 years they were followed, some improvement could be observed. Certain family events which took place just prior to the outbreak of the psychosis are reported, and the point is made that these may have had some causative relation with the disorder by acting as environmental stress factors. The possibility of a genetic factor also contributing to the appearance of the disorder could not be excluded in view of the existence of a first cousin with autistic symptoms.

Extralinguistic speech characteristics of children with conduct and anxiety disorders.

Nine children with conduct and nine with anxiety disorder participated in the study. The subjects were requested to respond to verbal tasks (counting, picture description, story telling). Disturbance of conduct was associated with short initial hesitation before speaking. It is suggested that the initial hesitation variables are measures of reflection and cognitive planning. Anxiety across subjects was associated with increased breath rate and lower output of speech per breath. It is suggested speech breath variables are reliable measures of anxiety. Implication for the diagnosis and management of child psychiatric disorders are discussed.

A profile of the child psychiatric population of Newfoundland.

At all referrals during the year 1977 to the only child psychiatric facility in the Province of Newfoundland and Labrador were investigated on a number of variables. Two hundred and two children were referred. This was considered a very low rate of referrals. Distance of the child's residence beyond the range of 50 kilometres from the unit was negatively associated to referrals. Lack of parental employment was not associated with increased rate of referrals. Children from the outlying regions of the Province were unlikely to come from broken families. Academic failure was common among those referred. Few differences were observed in the clinical diagnoses between those referred from the Avalon Peninsula and the regions lying further away. As compared to another Canadian province, Ontario, (Ottawa-Carleton region) (2), fewer aggressive children were referred in Newfoundland. Some implications of these findings for the practice of child psychiatry in the Province were discussed.

Parent satisfaction in a child psychiatric service.

The development and use is reported of a client satisfaction questionnaire to be answered by parents of children and adolescents referred to an outpatient psychiatric program. The structure of the questionnaire and the results from a first application are reported. It is suggested that a client satisfaction questionnaire may become an important feedback instrument useful for service planning.

A clinical and academic outcome study of children attending a day treatment program.

OBJECTIVE: To assess the behavioural and academic improvement of children who attended a day treatment program during a defined period of time. METHOD: Forty-six children admitted consecutively to the project were assessed on admission and discharge using behavioural and academic measures. They also had intelligence and language assessments. The subjects attended the program for one academic year, on the average. The large majority presented with disruptive behaviour disorders and low academic achievement levels. RESULTS: There was a significant improvement reported by the parents in externalizing (P < 0.001) and internalizing (P < 0.05) behaviour. The subjects also gained one academic year, but their levels continued to be low in terms of percentiles. Measures of academic improvement showed significant associations with cognitive measures only (subscales of Wechsler Intelligence Scale for Children-Revised [WISC-R] and Clinical Evaluation of Language Fundamentals-Revised [CELF-R]). CONCLUSION: A day treatment and school program is an effective modality for treatment and remediation of children with severe psychiatric disorders. The academic underachievement may be resistant to remediation within the limited period of attendance in such a program.

Psychosocial adaptation of immigrant Greek children from the former Soviet Union.

BACKGROUND: The objective of this study was to assess psychiatric disorders in, and the psychosocial adaptation and academic performance of, children of immigrant families of Greek origin from countries of the former Soviet Union. METHOD: At a preliminary stage, all immigrant children (276) aged 8-12 years attending 22 schools in a working-class suburb of Athens were assessed by their teachers in terms of behaviour and academic performance. They and their families had migrated to Greece within the previous three years. A matching control group of native children (251) attending the same schools and classes was also assessed. For an in-depth assessment of psychopathology and social adaptation, 65 immigrant and 41 native children were randomly selected from the two larger groups and were further assessed. RESULTS: No statistically significant differences were observed between the immigrant and native children in terms of psychopathology and social adaptation, although a few differences were observed in subscales. However, there were significant differences between the groups in academic performance, that of the immigrant group being poorer, particularly in language-related areas (p < 0.01). In the light of these results, language enrichment classes are suggested for immigrant children who need them.

Pilot study of anxiety and depression in prepubertal children.

Early detection of anxiety and depression is important because of the relationship between these disorders, suicide and other problems (i.e. social, phobias, learning problems). This study screened prepubertal students in a school setting for symptoms of anxiety and depression using self-report measures (Revised Children's Manifest Anxiety Scale and the Children's Depression Inventory). Controls and children who scored high on measures of anxiety or depression or both were interviewed with their parents and were tested using the Diagnostic Interview for Children and Adolescents (computer version) and the Peabody Individual Achievement Test. Initial results indicated that anxiety is more prevalent in prepubertal children than depression. The correlation between different diagnostic measurements used in this project was calculated. A correlation was found between low scores of self-esteem and high scores of anxiety and depression on self-reports. It is concluded that self-report measures are good screening tools.

Reading and spelling deficits among children attending a psychiatric day treatment program.

To investigate the specific behavioural and cognitive characteristics which may account for academic deficits in children with psychiatric disorders, 50 children admitted to a day treatment and school program were assessed using behaviour questionnaires for parents and teachers, and tests assessing intelligence (WISC-R), language (CELF-R) and academic performance (Kaufman Test of Educational Achievement). The academic measures Reading Decoding, Reading Comprehension and Spelling formed the dependent variables. Behaviour and cognitive measures which distinguished the sample from normative data constituted the independent variables. Hierarchical multiple regression analyses were performed in order to identify behaviour and cognitive measures accounting for the academic deficits. In the analyses, three measures (Digit Span, Sentence Assembly, Recalling Sentences), probably assessing overlapping cognitive/linguistic functions, accounted for a large proportion of variance for Reading Decoding (0.47), Reading Comprehension (0.63) and Spelling (0.29). None of the behaviour measures accounted for any variance of the academic variables. It is argued that linguistic dysfunction is a primary deficit which underlies problems in academic learning.