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PubMed1998

Face recognition and emotion perception in boys with fragile-X syndrome.

Two independent and complementary studies were conducted to assess the ability of boys with fragile-X syndrome to recognize facial and emotional expressions. Both studies failed to find any specific deficits associated with fragile-X syndrome. The performance of the test group was comparable to the level of subjects with intellectual disability and subjects of average cognitive development matched for intellectual ability. This suggests that chronological age and intellectual level are unlikely to explain the findings. The results are discussed in the context of the controversy surrounding the relationship between autism and fragile-X syndrome. The findings are consistent with fragile-X individuals having a profile of social, communicatory and ritualistic disturbances, which in some ways may differ from those found in individuals who have more typical autistic spectrum disorders.

Affect↗
PubMed1991

Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis.

Recent reports in the literature have suggested a link between abnormalities of the cerebellar vermis and the behavioral syndrome of autism. Joubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. However, there is little behavioral or psychiatric description of patients with this genetic condition. In this report, the neuropsychiatric characteristics of two children with Joubert syndrome are described in detail. One child met DSM-III-R diagnostic criteria for autistic disorder, while the other displayed autistic features. The female child displayed stereotypic behavior and impairments in social interaction and communication, had a markedly restricted repertoire of interests, and showed distress over changes in the environment. The male child demonstrated perseveration and preoccupation with sounds and textures, but had no abnormalities in social interaction. Although both children showed developmental disabilities, the degree of cognitive delay was significantly less than that described in previous reports of children with Joubert syndrome. This report adds to the growing body of evidence implicating cerebellar involvement in developmental disabilities and autistic behavior.

Autistic Disorder↗
PubMedDate not supplied

[Disorders of catecholamine metabolism in infantile autism. Comparative study of 22 autistic children].

In a group of 22 autistic children aged 5 to 16 y., and a group of normal controls matched for age and sex, catecholamines metabolism has been investigated in plasma, platelets and urine. This investigation was part of a research project in which several biological parameters (including serotonin) were simultaneously explored in the same children. In the autistic group, epinephrine and norepinephrine and dopamine were significantly lower in isolated platelets, and no significant difference was found between the two groups for the urinary excretion of epinephrine, norepinephrine, dopamine, DOPAC and MHPG. Other differences between the two groups in the statistical correlations of several biochemical parameters (plasma norepinephrine and dopamine with platelet MAO activity, platelet norepinephrine with platelet dopamine, platelet dopamine, platelet dopamine with platelet serotonin) also suggest abnormalities of bioamine metabolism in the platelets of autistic children.

Adolescent↗
PubMed2004

[A magnetoencephalographic study of generalised developmental disorders. A new proposal for their classification].

INTRODUCTION: Autistic spectrum disorders (ASD) is a term that is not included in DSM IV or in ICD 10, which are the diagnostic tools most commonly used by clinical professionals but can offer problems in research when it comes to finding homogenous groups. DEVELOPMENT: From a neuropaediatric point of view, there is a need for a classification of the generalised disorders affecting development and for this purpose we used Wing's triad, which defines the continuum of the autistic spectrum, and the information provided by magnetoencephalography (MEG) as grouping elements. Specific generalised developmental disorders were taken as being those syndromes that partially expressed some autistic trait, but with their own personality so that they could be considered to be a specific disorder. ASD were classified as being primary, cryptogenic or secondary. The primary disorders, in turn, express a continuum that ranges from Savant syndrome to Asperger's syndrome and the different degrees of early infantile autism. MEG is a functional neuroimaging technique that has enabled us to back up this classification.

Child Development Disorders, Pervasive↗
PubMed1988

Diagnostic features of autism.

Autism is a severe form of childhood psychopathology first described by Leo Kanner in 1943. While over the years there has been substantial controversy about many features of the syndrome, there is today some consensus as to the behavioral characteristics associated with the diagnosis. These include onset of the disorder in the early preschool years, severe and pervasive deficits in social behavior and attachments, deficits in speech and language, insistence for the preservation of sameness, unusual responsiveness to the sensory environment, self-stimulation, self-injurious behavior, isolated skill areas, and inappropriate affect. Another associated feature of many cases of autism is mental retardation. The present article describes these behavioral features as well as the application of the diagnosis and differentiation of autism from other disorders including primary mental retardation, childhood schizophrenia, developmental aphasia, and pervasive developmental disorder.

Autistic Disorder↗
PubMed1988

Lifelong eccentricity and social isolation. II: Asperger's syndrome or schizoid personality disorder?

Several scales are described for measuring aspects of eccentricity and social isolation; in particular, for assessing schizoid and schizotypal personality and for rating abnormal non-verbal expression. The latter is shown to be reliable, and the former to have a measure of validity. There was an association between schizoid personality traits and abnormalities of speech and non-verbal expression. However, abnormal non-verbal expression, but not schizoid personality traits or DSM-III schizotypal personality disorder, was particularly likely to occur in those subjects who had evidence of neurological deficit, and childhood symptoms indicative of developmental disorder. Abnormal non-verbal expression, but not personality disorder, was also associated with other characteristic features of Asperger's syndrome, such as unusual, 'special' interests. It is suggested that Asperger's syndrome is a distinct syndrome from either schizoid or schizotypal personality disorder, but may be a risk factor for the development of schizoid personality disorder.

Autistic Disorder↗
PubMed2006

Visual completion and complexity of visual shape in children with pervasive developmental disorder.

Much evidence has been gathered for differences in visual perceptual processing in individuals with Autistic Spectrum Disorder. The presence of the fundamental process of visual completion was tested in a group of children with Pervasive Developmental Disorder (PDD), as this requires perceptually integrating visual structure into wholes. In Experiment 1, it was investigated whether visual completion is present for simple partly occluded shapes in a group of children with PDD and a typically developing group. In Experiment 2, the presence of contextual influences in visual completion was investigated for the two groups. A total of 19 children with PDD and 28 controls who were matched for chronological age and IQ took part in two primed-matching tasks. For both groups, visual completion was present and for both groups, contextual influences were found to be dominant in this process. However, only for the group with PDD no priming effects (PEs) were found from less regular primes on congruent test pairs. The group with PDD did integrate visual information into wholes and did this in a contextually dependent way. However, for more complex shapes, visual completion is weaker for this group.

Autistic Disorder↗
PubMedDate not supplied

Fatty acid metabolism in neurodevelopmental disorder: a new perspective on associations between attention-deficit/hyperactivity disorder, dyslexia, dyspraxia and the autistic spectrum.

There is increasing evidence that abnormalities of fatty acid and membrane phospholipid metabolism play a part in a wide range of neurodevelopmental and psychiatric disorders. This proposal is discussed here in relation to attention-deficit/hyperactivity disorder (ADHD), dyslexia, developmental coordination disorder (dyspraxia) and the autistic spectrum. These are among the most common neurodevelopmental disorders of childhood, with significant implications for society as well as for those directly affected. However, controversy still surrounds both the identification and management of these conditions, and while their aetiology is recognized as being complex and multifactorial, little progress has yet been made in elucidating predisposing factors at the biological level. An overview is provided here of the contents of this Special Issue, which contains a selection of reports from a unique multidisciplinary workshop involving both researchers and clinicians. Its purpose was to explore the possibility that ADHD, dyslexia, dyspraxia and autism fall within a phospholipid spectrum of disorders. This proposal could explain the high degree of co-morbidity between these conditions, their aggregation within families and relation to other psychiatric disorders, and a range of associated features that are already well known at a clinical level. The existing evidence for fatty acid abnormalities in these disorders is summarized, and new approaches are outlined that have the potential to improve both the identification and the management of these and related neurodevelopmental and psychiatric conditions.

Attention Deficit Disorder with Hyperactivity↗
PubMed2005

An fMRI study of joint attention experience.

Although much is now known about eye movement detection, little is known about the higher cognitive processes involved in joint attention. We developed video stimuli which when watched, engender an experience of joint attention in the observer. This allowed us to compare an experience of joint attention to nonjoint attention within an fMRI scanning environment. Joint attention was associated with activity in the ventromedial frontal cortex, the left superior frontal gyrus (BA10), cingulate cortex, and caudate nuclei. The ventromedial frontal cortex has been consistently shown to be activated during mental state attribution tasks. BA10 may serve a cognitive integration function, which in this case seems to utilize a perception-action matching process. The activation we identified in BA10 overlaps with a location of increased grey matter density that we recently found to be associated with autistic spectrum disorder. This study therefore constitutes evidence that the neural substrate of joint attention also serves a mentalizing function. The developmental failure of this substrate in the left anterior frontal lobe may be important in the etiology of autistic spectrum disorder.

Adolescent↗
PubMed1999

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.

Autistic Disorder↗
PubMed2002

[Communication and language in the autistic spectrum: autism and dysphasia].

INTRODUCTION: The alterations of language and communication seen in children with autistic spectrum disorders (TEA) have some similar and some dissimilar features to those seen in children with specific language disorders (TEL). The basic disorder of TEA seems to be due to alterations in the social and mental use of codes of communication, both verbal and non verbal. Children with TEL however have better non verbal and practical abilities. OBJECTIVE: In view of this, we decided to determine the qualitative difference in function in communication and language between the two populations. PATIENTS AND METHODS: The great heterogeneity between persons with autistic spectrum disorders and even variation between individuals makes investigation of large groups difficult. It is therefore necessary to study individual cases or groups with small numbers. If we fix our attention on language and communication, it is important to define subtypes of function with the population affected by the autistic spectrum of disorders at an early age, in the fields of communication, receptive language and expressive language in our small sample of persons; taking the normal course of development in each field as the parameter for comparison. This is a pilot study within a long term research project. RESULTS: The results reported here are the preliminary findings of what will be a more extensive study with fuller analysis of the results. CONCLUSIONS: The preliminary findings suggest that there are different linguistic and communication function profiles in the different populations compared.

Aphasia↗
PubMed1991

School refusal in pervasive developmental disorders.

Of 135 autistic and/or mentally retarded youngsters, 30 with pervasive developmental disorders and 2 with nonautistic mental retardation showed school refusal according to its modified definition. School refusal was significantly more frequent in other PDDs than in nonautistic mental retardation. The intellectual level was significantly higher in PDD children with school refusal than those without it. A certain level of mental development and obsessive tendency appear necessary for PDD children to develop school refusal. In order to treat school refusal in PDD, it is important to make school a pleasant place to go and to encourage the child to attend.

Absenteeism↗
PubMed1990

[Differential results of treatment in pedagogic-therapeutic long-term intervention in residential treatment centers for children].

In a longitudinal evaluation study the developmental progress of 223 children, who have been treated between 1968 and 1987 in a residential facility for psychiatric care, was explored from referral until time of discharge. Initial state and state at discharge were defined multidimensionally according to MAS. Comparisons between children with different initial clinical diagnosis met expectations, that introversive disturbances recover more frequently than autistic as well as conduct disorders or hyperactivity. Associations between recovery and initial cognitive-intellectual state did not reach statistical significance, when type of disorder was controlled for. But rate of recovery appeared to be throughout higher for children with learning disabilities than for children without such deficits. Age at onset and age at referral were apparently rather irrelevant for the state at discharge. But rate of recovery was in general clearly reduced, when length of time between onset and referral had been above average. The relation between duration of treatment and state at discharge depended on the type of disorder. For children with conduct or autistic disorders the rate of recovery increased with longer duration of treatment, whereas for children with introversive disturbances the contrast was true. This could suggest confounding effects of severity of disorder. When the treatment in the facility had been precociously terminated, rate of recovery in general was remarkably lower than in case of a planned termination. Analysis on effects of alternative methods of treatment was only with restrictions possible and did not suggest a general or differential superiority of a special type of treatment.

Adolescent↗
PubMed2006

Early language and communication development of infants later diagnosed with autism spectrum disorder.

It is well recognized that delayed "first words" is among the most common presenting symptoms of autistic spectrum disorders (ASD). However, data on earlier language and communication development in children with ASD are limited to retrospective reports from parents and from home videos. In this study, we prospectively collected parent report data on early communication and language development in 97 infant siblings of children with ASD and 49 low-risk controls. Parents completed the MacArthur Communicative Development Inventory--Infant Form at 12 and 18 months. Analysis compared 3 groups defined on the basis of diagnostic assessment at 24 months: (1) siblings with ASD (n = 15), (2) siblings not meeting diagnostic criteria for ASD (n = 82), and (3) low-risk controls, none of whom had ASD (n = 49). Children with ASD showed delays in early language and communication compared with non-ASD siblings and controls. At 12 months, the ASD group was reported to understand significantly fewer phrases and to produce fewer gestures. At 18 months, they showed delays in their understanding of phrases, comprehension and production of single words, and use of gestures. Siblings not diagnosed with ASD also used fewer play-related gestures at 18 months than low-risk controls, even when children with identified language delays were excluded. Overall, this prospective study confirms that delays in communication and language development are apparent early in life in children with ASD, and emphasizes that developmental surveillance should include monitoring for delays in gesture, which may be among the earliest signs of ASD.

Autistic Disorder↗
PubMed2006

The effect of coloured overlays on reading ability in children with autism.

Abnormalities of colour perception in children with autistic spectrum disorders have been widely reported anecdotally. However, there is little empirical data linking difficulties in colour perception with academic achievement. The Wilkins Rate of Reading Test was administered with and without Intuitive Coloured Overlays to 19 children with autistic spectrum disorders and to the same number of controls individually matched for age and intelligence. Findings showed that 15 out of 19 (79%) children with autism showed an improvement of at least 5% in reading speed when using a coloured overlay. In contrast only 3 of 19 (16%) control group children showed such an improvement. The findings suggest that coloured overlays may provide a useful support for reading for children with autism.

Achievement↗