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[Identification and early diagnosis of the autistic spectrum disorders].

AIM: To review the empirical evidence and recommendations for early identification and diagnosis of autistic spectrum disorders (ASD). DEVELOPMENT: ASD often remains unrecognized and undiagnosed until late preschool age. A significant delay of almost 3 years was reported between parents' initial concerns about their child and the age of diagnosis. Some research provides further evidence that signs of ASD are evident in the first 2 years of life. The importance of early diagnosis is that it opens the door to early intervention programs which are essentials for the future of these children. Early diagnosis can be facilitated most effectively if early detection is made possible. Progress has recently been made in the earlier identification of children with ASD. Recent researches have identified early behavioural difficulties in social reciprocity, joint attention, theory of mind, gaze engagement, social referencing and hypersensitivity to sound. Professionals need to be aware and sensitive to these behavioural patterns. Their identification would increase the likelihood of a reliable early diagnosis. CONCLUSIONS: At present, it is possible to make earlier diagnosis of ASD. It is important that health and education professionals in childhood know several early manifestations of ASD.

Child↗
PubMed2004

Brief report: cognitive processing of own emotions in individuals with autistic spectrum disorder and in their relatives.

Difficulties in the cognitive processing of emotions--including difficulties identifying and describing feelings--are assumed to be an integral part of autism. We studied such difficulties via self-report in 27 high-functioning adults with autistic spectrum disorders, their biological relatives (n = 49), and normal adult controls (n = 35), using the 20-item Toronto Alexithymia Scale and the Beck Depression Inventory. The individuals with autism spectrum disorders were significantly more impaired in their emotion processing and were more depressed than those in the control and relative groups.

Adolescent↗
PubMed2002

The potential of virtual reality in social skills training for people with autistic spectrum disorders.

BACKGROUND: People with autism experience profound and pervasive difficulties in the social domain. Attempts to teach social behaviours tend to adopt either a behavioural or a 'theory of mind' (ToM) approach. The beneficial aspects and limitations of both paradigms are summarized before an examination of how virtual reality technology may offer a way to combine the strengths from both approaches. METHODS: This is not an exhaustive review of the literature; rather, the papers are chosen as representative of the current understanding within each broad topic. Web of Science ISI, EMBASE and PsycInfo were searched for relevant articles. RESULTS: Behavioural and ToM approaches to social skills training achieve some success in improving specific skills or understanding. However, the failure to generalize learned behaviours to novel environments, and the unwieldy nature of some behavioural methodologies, means that there is a need for a training package that is easy to administer and successful in promoting learning across contexts. CONCLUSIONS: Virtual reality technology may be an ideal tool for allowing participants to practise behaviours in role-play situations, whilst also providing a safe environment for rule learning and repetition of tasks. Role-play within virtual environments could promote the mental simulation of social events, potentially allowing a greater insight into minds. Practice of behaviours, both within and across contexts, could also encourage a more flexible approach to social problem solving. Virtual environments offer a new and exciting perspective on social skills training for people with autistic spectrum disorders.

Autistic Disorder↗
PubMed2002

A population-based study of measles, mumps, and rubella vaccination and autism.

BACKGROUND: It has been suggested that vaccination against measles, mumps, and rubella (MMR) is a cause of autism. METHODS: We conducted a retrospective cohort study of all children born in Denmark from January 1991 through December 1998. The cohort was selected on the basis of data from the Danish Civil Registration System, which assigns a unique identification number to every live-born infant and new resident in Denmark. MMR-vaccination status was obtained from the Danish National Board of Health. Information on the children's autism status was obtained from the Danish Psychiatric Central Register, which contains information on all diagnoses received by patients in psychiatric hospitals and outpatient clinics in Denmark. We obtained information on potential confounders from the Danish Medical Birth Registry, the National Hospital Registry, and Statistics Denmark. RESULTS: Of the 537,303 children in the cohort (representing 2,129,864 person-years), 440,655 (82.0 percent) had received the MMR vaccine. We identified 316 children with a diagnosis of autistic disorder and 422 with a diagnosis of other autistic-spectrum disorders. After adjustment for potential confounders, the relative risk of autistic disorder in the group of vaccinated children, as compared with the unvaccinated group, was 0.92 (95 percent confidence interval, 0.68 to 1.24), and the relative risk of another autistic-spectrum disorder was 0.83 (95 percent confidence interval, 0.65 to 1.07). There was no association between the age at the time of vaccination, the time since vaccination, or the date of vaccination and the development of autistic disorder. CONCLUSIONS: This study provides strong evidence against the hypothesis that MMR vaccination causes autism.

Autistic Disorder↗
PubMed1998

Are there subgroups within the autistic spectrum? A cluster analysis of a group of children with autistic spectrum disorders.

Comprehensive data on the developmental history and current behaviours of a large sample of high-functioning individuals with diagnoses of autism, Asperger's syndrome, or other related disorder were collected via parent interviews. This provided the basis for a taxonomic analysis to search for subgroups. Most participants also completed theory of mind tasks. Three clusters or subgroups were obtained; these differed on theory of mind performance and on verbal abilities. Although subgroups were identified which bore some relationship to clinical differentiation of autistic, Asperger syndrome, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) cases, the nature of the differences between them appeared strongly related to ability variables. Examination of the kinds of behaviours that differentiated the groups suggested that a spectrum of autistic disorders on which children differ primarily in term of degrees of social and cognitive impairments could explain the findings.

Adolescent↗
PubMed2005

A controlled study of formal thought disorder in children with autism and multiple complex developmental disorders.

UNLABELLED: Along with well-defined categories in classification systems (e.g., autistic disorders and attention-deficit/hyperactivity disorder (ADHD)), practitioners are confronted with many children showing mixed forms of developmental psychopathology. These clusters of symptoms are on the borderlines of more defined categories. The late Donald Cohen proposed heuristic criteria to study a group defined by impaired social sensitivity, impaired regulation of affect, and thinking disorders under the name multiple complex developmental disorders (MCDD). Although these children meet criteria for pervasive developmental disorder--not otherwise specified (PDD-NOS), they have additional important clinical features, such as thought disorder. After highlighting similarities and differences between MCDD and comparable groups (e.g., multidimensionally impaired children), this paper presents the findings of a study comparing formal thought disorder scores in children with MCDD to children with autism spectrum diagnoses, such as autistic disorder (AD), and to children with nonspectrum diagnoses, such as ADHD and anxiety disorders. METHODS: Videotaped speech samples of four groups of high-functioning, latency-aged children with MCDD, AD, ADHD, and anxiety disorders were compared to a control group of normal children using the Kiddie Formal Thought Disorder Rating Scale (K-FTDS). RESULTS: High formal thought disorder scores were found both in the AD and MCDD groups, low rates in the ADHD groups, and no thought disorder in the anxiety disorder and normal control groups. The severity of formal thought disorder was related to verbal IQ scores within the AD and MCDD groups. CONCLUSION: High formal thought scores in children with complex developmental disorders, such as AD and MCDD, appear to reflect impaired communication skills rather than early signs of psychosis.

Anxiety↗
PubMed2004

Association of tryptophan 2,3 dioxygenase gene polymorphism with autism.

Although elevation of blood and platelet serotonin has been documented in autism, genetic analyses of serotonin transporter gene have given conflicting results. Tryptophan 2,3 dioxygenase (TDO2) is the rate-limiting enzyme in the catabolism of tryptophan, the precursor of serotonin. A mutation that results in decreased activity of the TDO2 can decrease catabolism of tryptophan and increase the level of whole body serotonin. As such it is a potential candidate gene for autism. We have investigated five single nucleotide polymorphisms in the TDO2 gene for association with autistic disorder. One hundred and ninety six multiplex autistic disorder families were tested using transmission disequilibrium test. There was a significant difference in the transmission of a promoter variant to autistic subjects (P = 0.0006). Haplotype analysis also demonstrated significant difference in the transmission of TDO2 haplotypes to autistic subjects (P = 0.0027). Our results suggest the presence of a susceptibility mutation in the TDO2 or a nearby gene, but may also represent a chance finding.

Autistic Disorder↗
PubMed2005

Diagnosis and evaluation of pervasive developmental disorders.

Accurate diagnosis and appropriate treatment of pervasive developmental disorders (PDDs), including autistic disorder, Asperger's disorder, and pervasive developmental disorder not otherwise specified, are necessary to ensure the best possible outcomes for children with these disorders. In the past, it was not uncommon for children with PDDs to wait several years from the time of parental recognition of developmental delay to the determination of the correct diagnosis and initiation of treatment. Increased awareness of PDDs and the availability of better assessment tools have improved the detection of these conditions in children. A wide variety of standardized diagnostic checklists, interviews, and observational measures are available to assist the clinician in making an accurate PDD diagnosis. A comprehensive evaluation also establishes a baseline of adaptive functioning and problematic behavior, which is essential for subsequent assessment of progress. This article discusses the differential diagnosis and evaluation of PDDs, focusing on the various assessment tools. The elements of a contemporary diagnostic evaluation and behavioral assessment are presented. The application of discretionary evaluations for special situations are also introduced.

Adult↗
PubMed2006

A systematic examination of catatonia-like clinical pictures in autism spectrum disorders.

Three studies concerning catatonia-like clinical pictures in people with autism spectrum disorders (ASDs) referred to clinics are described. The first investigated the frequencies, in children and adults with autistic disorders, of 28 specific disorders of movement, speech, and behavior similar to those occurring in chronic catatonia spectrum conditions. The second compared the frequency of these items among groups of children with, ASDs, learning disabilities, specific language impairment, and a group with typical development, respectively. The third study examined the pattern of catatonia-like deterioration occurring in a minority of adolescents and adults with ASDs. The studies demonstrated the high frequency of catatonia-like features in people with autistic disorders. There was some tendency for improvement with increasing age, especially for those with IQ 70 or over. The items were also found in children with learning disabilities and specific language disorders but significantly less often. They occurred least often in the children with typical development. Severe catatonia-like deterioration occurred in 17% of those with autistic disorders, who were aged 15 years or over when assessed at a diagnostic center. A history of passivity in social interaction and impairment of expressive language were associated with the deterioration. No clear relationship was found between a history of catatonia-like features, singly or combined, and catatonia-like deterioration. The findings pose questions for future research.

Adolescent↗
PubMed1996

Comparison of clinical symptoms in autism and Asperger's disorder.

OBJECTIVE: To determine what clinical symptoms clinicians have been using to distinguish between Asperger's disorder (AsD) and autistic disorder (AD). METHOD: Parents of children and adolescents with high-functioning AD (n = 48) and AsD (n = 69) were given a structured interview based on DSM-III-R and ICD-10 diagnostic criteria. Information regarding early and current symptom presentation and family, developmental, and verbal mental age information were collected. Logistic regression analyses were conducted to determine which variables best predicted clinician's diagnosis. RESULTS: A number of clinical variables predicted diagnosis. Delayed language onset was the only variable of the family and developmental variables that predicted diagnosis. The AsD group was also significantly higher than the AD group in verbal mental age. CONCLUSION: Clinicians appear to be diagnosing AsD and AD on the basis of published research and case study accounts. The findings question whether DSM-IV and ICD-10 criteria adequately describe the AsD individual, particularly in the communication domain.

Adolescent↗
PubMed2006

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy.

The onset of epilepsy in brain systems involved in social communication and/or recognition of emotions can occasionally be the cause of autistic symptoms or may aggravate preexisting autistic symptoms. Knowing that cognitive and/or behavioral abnormalities can be the presenting and sometimes the only symptom of an epileptic disorder or can even be caused by paroxysmal EEG abnormalities without recognized seizures, the possibility that this may apply to autism has given rise to much debate. Epilepsy and/or epileptic EEG abnormalities are frequently associated with autistic disorders in children but this does not necessarily imply that they are the cause; great caution needs to be exercised before drawing any such conclusions. So far, there is no evidence that typical autism can be attributed to an epileptic disorder, even in those children with a history of regression after normal early development. Nevertheless, there are several early epilepsies (late infantile spasms, partial complex epilepsies, epilepsies with CSWS, early forms of Landau-Kleffner syndrome) and with different etiologies (tuberous sclerosis is an important model of these situations) in which a direct relationship between epilepsy and some features of autism may be suspected. In young children who primarily have language regression (and who may have autistic features) without evident cause, and in whom paroxysmal focal EEG abnormalities are also found, the possible direct role of epilepsy can only be evaluated in longitudinal studies.

Adult↗
PubMed2005

Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood.

PURPOSE: Little is known about the long-term outcome of epilepsy in autism and the epilepsy characteristics of adults with autism. This prospective population-based study was conducted in an attempt to point out differences on a group basis between adults with autism with or without epilepsy, and to describe the occurrence, the seizure characteristics, and the outcome of epilepsy in autism. METHODS: One hundred eight of 120 individuals with autism diagnosed in childhood and followed up prospectively for a period of 13-22 years were reevaluated at ages 17-40 years. As adults, the majority had mental retardation and autistic disorder or autistic-like condition. Interviews were performed with the caretakers of 42 of 43 individuals with a history of epilepsy, and their medical records were reviewed. RESULTS: Adults with autism and mental retardation constituted a severely disabled group. On a group basis, both the cognitive level and the adaptive behavior level were lower in the epilepsy group than in the nonepilepsy group (p<0.05). In all, 38% had epilepsy. One third had epilepsy onset before age 2 years. Remission of epilepsy was seen in 16%. Partial seizures with or without secondarily generalized seizures were the dominating seizure type. CONCLUSIONS: In a community sample of individuals with autism followed up from childhood through to adult age, one of three had epilepsy since childhood/adolescence. Severe mental retardation and autism are significantly associated with epilepsy, especially in female patients. Seizure frequency has a great impact on the individuals' lives. Specialist medical care is needed in this severely communication-disabled population.

Adaptation, Psychological↗
PubMed2001

[Evaluated treatment approaches in child and adolescent psychiatry I].

OBJECTIVES: The principle of evidence-based medicine is to integrate data concerning the efficacy of interventions into clinical practice. This article assesses the level of evaluation of psychosocial, psychopharmacological and combined interventions for mental disorders in childhood and adolescence (autistic disorders, hyperkinetic disorders, conduct disorders, tic disorders, enuresis, and encopresis). METHODS: Three different levels of evaluation were defined for both psychosocial and psychopharmacological interventions: A (> or = 2 randomized controlled studies), B (1 randomized controlled study), and C (open studies and case studies). The level of evaluation was judged on the basis of original papers found in a comprehensive literature search. RESULTS: For most disorders presented in this article there are several A-level treatments. The efficacy of both psychosocial and psychopharmacological interventions that target specific problem behaviors or symptoms, respectively, has been repeatedly demonstrated with regard to autistic disorders. Many studies have evaluated treatment approaches for hyperkinetic disorders and conduct disorders. With regard to the treatment of tic disorders in children and adolescents, far more studies evaluated the efficacy of pharmacotherapy than of psychotherapy. CONCLUSIONS: Further research should compare the efficacy of different treatment approaches, examine specific and differential treatment effects and investigate combined treatment approaches.

Adolescent↗
PubMed2003

Parents' detection of early signs in their children having an autistic spectrum disorder.

The study aimed to describe parents' views of their early perception and detection that something was wrong with their child and to give a comprehensive description of early signs to help primary health care nurses to focus on relevant symptoms. Participants were 66 parents from a total of 37 families, a population-based sample from a Swedish county. Interview data were analyzed by manifest content analysis. The results indicated a few critical periods: around the birth, early speech development, and school start. The diagnosis of autistic spectrum disorders was delayed. The parents' reports were congruent with earlier observation studies.

Adolescent↗
PubMed2004

Autistic spectrum disorder: a child population profile.

This study analyses the prevalence of ASD, comorbidity, educational provision and ability in autistic children in a single health district, born between 1983 and 1996. The number of recorded diagnoses doubled over a 4 year period. This appeared to be due to greater recognition of ASD in more able children, in children initially presenting with ADHD, and possibly in females. ADHD accounted for a substantial proportion of comorbidity. Age at diagnosis appeared to be related to school placement. Cognitive ability levels ranging from more than three standard deviations below the mean to more than one standard deviation above the mean were found in the moderate and severe learning difficulty school population as well as in the mainstream population. Exceptionally low levels of verbal ability were present in a high proportion of mainstream pupils. Measured levels of cognitive function show poor relationship with actual educational placement.

Adolescent↗
PubMed1996

Autism spectrum disorders in children with physical or mental disability or both. I: Clinical and epidemiological aspects.

The prevalence of autism spectrum disorders was studied in all children with mental retardation and/or motor disability in a defined geographical region over a two-year follow-up period. In the general population, the prevalence of autistic disorder was 0.09% at the end of the follow-up period -a minimum estimate, as children with average intelligence were not screened. Autism spectrum disorders were found in 19.8% of children with mental retardation, including strictly defined autistic disorder (DSM-III-R criteria) in 8.9%; the two-year follow-up yielded a higher prevalence of 11.7% with autistic disorder. Among children with cerebral palsy, 10.5% had an autism spectrum disorder. Clear co-variation was found between mental retardation, epilepsy and autism spectrum disorders in this population of children with neurodevelopmental disorders.

Adolescent↗
PubMed2002

The epidemiology of autistic spectrum disorders: is the prevalence rising?

For decades after Kanner's original paper on the subject was published in 1943, autism was generally considered to be a rare condition with a prevalence of around 2-4 per 10,000 children. Then, studies carried out in the late 1990s and the present century reported annual rises in incidence of autism in pre-school children, based on age of diagnosis, and increases in the age-specific prevalence rates in children. Prevalence rates of up to 60 per 10,000 for autism and even more for the whole autistic spectrum were reported. Reasons for these increases are discussed. They include changes in diagnostic criteria, development of the concept of the wide autistic spectrum, different methods used in studies, growing awareness and knowledge among parents and professional workers and the development of specialist services, as well as the possibility of a true increase in numbers. Various environmental causes for a genuine rise in incidence have been suggested, including the triple vaccine for measles, mumps and rubella (MMR]. Not one of the possible environmental causes, including MMR, has been confirmed by independent scientific investigation, whereas there is strong evidence that complex genetic factors play a major role in etiology. The evidence suggests that the majority, if not all, of the reported rise in incidence and prevalence is due to changes in diagnostic criteria and increasing awareness and recognition of autistic spectrum disorders. Whether there is also a genuine rise in incidence remains an open question.

Age Distribution↗