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PubMed2004

Does routine child health surveillance contribute to the early detection of children with pervasive developmental disorders? An epidemiological study in Kent, U.K.

BACKGROUND: Recently changed guidelines for child health surveillance in the United Kingdom (U.K.) suggest targeted checks only, instead of the previously conducted routine or universal screening at 2 years and 3.5 years. There are concerns that these changes could lead to a delay in the detection of children with autism and other pervasive developmental disorders (PDD). Recent U.K. studies have suggested that the prevalence of PDD is much higher than previously estimated. This study establishes to which extent the routine checks contributed to the early detection and assessment of cases of PDD. Simultaneously we have evaluated the process involved and estimate the prevalence of PDD in our district. METHODS: Retrospective study design utilising community medical files. Headteachers of schools (n = 75) within Maidstone district (Kent) were asked to report all children with an established diagnosis of autism or PDD attending year 4 (born '91 and '92 / n = 2536) in October 2000 based on educational records. RESULTS: 59 schools (78.7%) took part in the study. A total of 33 children were reported. 21 fulfilled the inclusion criteria (12 falsely reported). The prevalences were (per 10,000): PDD 82.8 (male to female ratio 6:1), childhood autism 23.7, Asperger's syndrome 11.8 and autistic spectrum disorder 47.3. Co-existing medical conditions were noted in 14.3%; 52.4% were attending mainstream schools. In 63.2% of cases concerns--mainly in the area of speech and language development (SLD)--had been documented at the 2 year check. At the 3.5 year check concerns were noted in 94.1%--the main area was again SLD (76.5%), although behavioural abnormalities were becoming more frequent (47.1%). A total of 13 children (68.4%) were referred for further assessment as a direct result of the checks. CONCLUSIONS: The prevalences for different types of PDD were similar to figures published recently, but much higher than reported a few years ago. Analysis of our data suggests that routine surveillance is a valuable contributing factor for the early detection of PDD and thereby facilitates early intervention. Thus, if routine surveillance ceases, then an alternative method of early detection should be put in place.

Age Factors↗

PubMed1999

The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families.

As part of a wider survey of parents of children with autistic spectrum disorders in the UK, the diagnostic experiences of 614 parents of children with autism and 156 with Asperger syndrome were compared. Although the ages of the children in the two groups were very similar at the time of the survey, parents of children given a diagnosis of Asperger syndrome had experienced significantly longer delays and greater frustration in obtaining a diagnosis than those with a child with autism. In the 'autism group' the average age when diagnosis was confirmed was around 5.5 years; in the 'Asperger group' it was 11 years. Parents of children with a diagnosis of autism were generally aware of problems in their child's development by 18 months of age; in the Asperger group concerns emerged later, at around 30 months of age. Initial worries in both groups centred around abnormal social development but parents of children with Asperger syndrome were less likely to have noted communication problems. Stereotyped or repetitive behaviours were not prominent in the early years in either group. Despite the problems inherent in data collected by postal survey, many of the findings of this study are supported by other research. The practical implications of delayed diagnosis, especially in the case of more able children with Asperger syndrome are discussed.

Age Factors↗

PubMed1999

Pervasive developmental delay in children presenting as possible hearing loss.

OBJECTIVE/HYPOTHESIS: Children who fail to develop adequate language skills and/or appropriate social skills by age 2 years often are referred to the department of otolaryngology for otolaryngologic examination and evaluation of possible hearing deficits. Discovering a gross disparity between hearing function and language ability often uncovers an underlying developmental disorder satisfying criteria for diagnosis on the spectrum of autism and pervasive developmental delay (PDD). The otolaryngologist has a unique opportunity to identify these autistic children and initiate their evaluation and management. STUDY DESIGN: Retrospective review. METHODS: Review of charts of children referred over the past 4 years to the Department of Otolaryngology for possible hearing loss identified 15 children who were later diagnosed with PDD. RESULTS: Fifteen children initially referred for hearing evaluation were subsequently identified with a diagnosis of PDD. Males outnumbered females 4 to 1, with the average age of referral being 2 years. One third of the patients displayed middle ear disease that improved with PE tube placement. One third of the patients showed brainstem conduction dysfunction on auditory brainstem evoked response testing. CONCLUSIONS: Children with developmental delays, especially higher functioning ones, may present with a myriad of language and communication deficits that are often mistakenly attributed to hearing loss. Otolaryngologists and audiologists can assist in their early identification and appropriate referral for therapy.

Audiometry, Pure-Tone↗

PubMed2000

Affective communication of infants with autistic spectrum disorder and internal representation of their mothers.

We have been examining the developmental process of affective communication in infants with autistic spectrum disorders from the viewpoint of relationship disturbance through our developmental and psychopathological studies on autism. In particular, the role of internal representation of the mother in the process of development of affective communication is discussed through the presentation of two cases diagnosed as autistic spectrum disorder in early infancy. In these cases, we postulate approach-avoidance motivational conflict as the primary factor impeding development of affective communication, focusing therapeutic intervention on this perspective. As a result, attachment behavior was remarkably improved in the children, but affective communication with their mothers was not readily improved. Taking up the mothers' own internal representation in mother-infant psychotherapy, in particular, the mothers' problems in attachment behavior with their own mothers in infancy precipitated transition in the mothers' internal representation of their children, leading to active evolution in mother-child interaction and development in affective communication between mother and child. In this context, the basis and significance of internal representation of both parties being determinants in the quality of mother-child communication are discussed.

Affect↗

PubMed2006

Social skills and problem behaviours in school aged children with high-functioning autism and Asperger's Disorder.

The social skills and problem behaviours of children with high-functioning autism and Asperger's Disorder were compared using parent and teacher reports on the Social Skills Rating System. The participants were 20 children with high-functioning autism, 19 children with Asperger's Disorder, and 17 typically developing children, matched on chronological and overall mental age. The children with autism and Asperger's Disorder were not differentiated on any social skill or problem behaviour based either on teacher or parent report. However, both clinical groups demonstrated significant social skill deficits and problem behaviours relative to the typically developing children, and the original standardization sample. The findings were compatible with the view that autism and Asperger's Disorder belong on a single spectrum of disorder.

Asperger Syndrome↗

PubMed1997

Autism and Asperger's syndrome.

Knowledge about the spectrum of autistic disorders, including Asperger's syndrome, has grown significantly. Diagnoses can be made more reliably and there is better characterization of elements within the spectrum than ever before. A clearer picture of the cognitive limitations displayed by persons with conditions in the autistic spectrum is emerging. Deficits in manipulating abstract meanings, translating principles across contexts, and attending to contextual meanings can be seen in lower and higher functioning individuals. Links between "executive function," "theory of mind," and findings from functional imaging are becoming apparent. There are consistent indications that frontal and temporal regions play a crucial role in these disorders. Associations with specific genetic defects has been suggested, but methods capable of discovering the complex interplay of several genes will be needed before generalized conclusions can be reached.

Autistic Disorder↗

PubMed2003

[Autism and hyperlexia].

INTRODUCTION: Hyperlexia is described in children who present alterations or retardation in development and is frequently characterised by their teaching themselves to read at an early age. This ability to decode words does not correlate with their intellectual level and can course with different degrees of mental retardation. It is always accompanied by difficulty in establishing social relationships. Autism is a disorder that is prototypical of the autistic spectrum disorders (ASD), which are essentially characterised by qualitative alterations in social interaction, in communication and language development, and in the presence of a limited repertory of interests, accompanied by stereotyped or peculiar responses. METHOD: The presence of hyperlexia in autistic children is more frequent than in other development disorders. This phenomenon is linked with the increased skills involving visual memory, visual discrimination and motivation/interest towards visually represented material that is to be found in people with autism. However, not all autistic individuals present hyperlexia and not all children with hyperlexia present autism, although evidence shows that hyperlexia is a phenomenon that is observed with greater frequency in autism and in ASD. CONCLUSION: Hyperlexia, understood as meaning a little island of ability in children with autism and ASD, poses a number of questions and represents an important challenge in neuropsychological research in this population.

Age Factors↗

PubMed2004

MMR vaccine and autism: an update of the scientific evidence.

An hypothesis published in 1998 suggested that measles-mumps-rubella vaccine may cause autism as a result of persistent measles virus infection of the gastrointestinal tract. Results of early studies were not supportive and in 2001 a review by the Institute of Medicine concluded that the evidence favors the rejection of a causal relationship at the population level between measles-mumps-rubella vaccine and autistic spectrum disorder. Studies published since the Institute of Medicine report have continued not to find an increased risk of autistic spectrum disorder associated with measles-mumps-rubella. The vaccine also has not been found to be associated with a unique syndrome of developmental regression and gastrointestinal disorders. The evidence now is convincing that the measles-mumps-rubella vaccine does not cause autism or any particular subtypes of autistic spectrum disorder.

Autistic Disorder↗

PubMed2001

Colonic CD8 and gamma delta T-cell infiltration with epithelial damage in children with autism.

OBJECTIVES: We have reported colitis with ileal lymphoid nodular hyperplasia (LNH) in children with regressive autism. The aims of this study were to characterize this lesion and determine whether LNH is specific for autism. METHODS: Ileo-colonoscopy was performed in 21 consecutively evaluated children with autistic spectrum disorders and bowel symptoms. Blinded comparison was made with 8 children with histologically normal ileum and colon, 10 developmentally normal children with ileal LNH, 15 with Crohn's disease, and 14 with ulcerative colitis. Immunohistochemistry was performed for cell lineage and functional markers, and histochemistry was performed for glycosaminoglycans and basement membrane thickness. RESULTS: Histology demonstrated lymphocytic colitis in the autistic children, less severe than classical inflammatory bowel disease. However, basement membrane thickness and mucosal gamma delta cell density were significantly increased above those of all other groups including patients with inflammatory bowel disease. CD8(+) density and intraepithelial lymphocyte numbers were higher than those in the Crohn's disease, LNH, and normal control groups; and CD3 and plasma cell density and crypt proliferation were higher than those in normal and LNH control groups. Epithelial, but not lamina propria, glycosaminoglycans were disrupted. However, the epithelium was HLA-DR(-), suggesting a predominantly T(H)2 response. INTERPRETATION: Immunohistochemistry confirms a distinct lymphocytic colitis in autistic spectrum disorders in which the epithelium appears particularly affected. This is consistent with increasing evidence for gut epithelial dysfunction in autism.

Adolescent↗

PubMed1994

Subtypes of autism by cluster analysis.

Multidisciplinary data from 166 children with autistic spectrum disorders were subjected to cluster analysis. Cross-validation between random halves of the sample showed acceptable consistency of the clustering method. Four clinically meaningful subtypes emerged from the analysis. They did not differ in demographic characteristics but did show, on average, distinct differences in behavioral and cognitive areas. Over half of the sample fell into a subtype described as typically autistic with abnormal verbal and nonverbal communication, aloofness, impaired social skills, and sensory disturbances. Another 19% were similarly autistic but with moderate to severe mental handicap. The remaining children formed two subtypes: a high-functioning Asperger-like group who were overactive and aggressive, and a small group who were impaired in social and language skills, had restricted interests, and a family history of learning problems. This study highlights important differences among children with autism and emphasizes relationships between cognitive functioning and subtypes of the disorder.

Attention Deficit Disorder with Hyperactivity↗

PubMed2001

Making it to work: towards employment for the young adult with autism.

In the last few decades there has been an increase in the reported prevalence of autism and its correlates within what is now termed autistic spectrum disorder (ASD): from 20 in every 10,000 children being estimated by Wing and Gould (1979) to 91 in every 10,000 by the National Autistic Society (NAS) (1999). While changes in criteria may account for some of this it is accepted that such children are increasingly being identified and knowledge of autism is growing. Semi-structured interviews were conducted with nine teaching staff from seven different schools for children with special needs to elicit information in relation to preparing young adults with ASD for the world of work. Results indicated educational practices are being modified for children with autism. Currently the most specifically tailored packages are offered in schools for children with severe learning difficulties.

Adolescent↗

PubMedDate not supplied

[Asperger's syndrome--a separate nosologic entity or part of the spectrum of autism].

This paper describes Asperger's syndrome, a disease similar to the autistic disorder, delineated for the first time by Asperger in 1944, just a few months after L. Kanner described infantile autism. Although, according to the epidemiological data, it occurs far more frequently than infantile autism, in practice this diagnosis is rarely established. Asperger's syndrome is defined as autistic syndrome among children with relatively high degree of intellectual functions, with marked disorder of speech and motoricity and interest confined to a very specified area. Learning is mechanical and routine and games uninventive. Children lack the need for age peer company. Boys are affected ten times more frequently than girls.

Autistic Disorder↗

PubMed2002

[The autistic spectrum. An epidemiological study and analysis of possible subgroups].

INTRODUCTION: Although the concept of autistic spectrum may be useful to explain and describe the heterogeneity of the syndrome, its aetiology is still unknown. Different disorders have been reported as the biological basis of autism. Early diagnosis and a multi disciplinary approach to the condition are essential for effective psychopaedagogic treatment. OBJECTIVE: To determine whether there is a relationship between the severity of the syndrome of autism and the course of the disorder, as a function of the presence or absence of neurological features, and to define homogeneous subgroups by detecting etiological variables which may be common to them. PATIENTS AND METHODS: 46 children defined as being within the spectrum of autism, in whom the diagnosis was confirmed on the autistic spectrum inventory (IDEA/Rivi re 97). Parameters studied: family history, perinatal risk, age of onset, complementary investigations and neurological features. RESULTS: The diagnosis was confirmed in 18 children; of the others 14 had a specific defect of the development of language. There was an almost complete absence of underlying neurological disorders, although this may have been due to dispersion of the complementary investigations done. CONCLUSIONS: Specific disorders of the development of language are the main differential diagnoses to be considered together with the autistic spectrum. The diagnosis of autism is clinical, but the heterogeneity of the medical approach interferes with the overall assessment of the spectrum favoring behavioural and underestimating the biological aspects. This means that the problem should be reconsidered so as to obtain uniform guidelines for action.

Autistic Disorder↗

PubMed2006

Alterations of circulating endogenous secretory RAGE and S100A9 levels indicating dysfunction of the AGE-RAGE axis in autism.

An excess accumulation of advanced glycation end products (AGEs) has been reported in autism brains. Through their interaction with their putative receptor RAGE, AGEs can promote neuroinflammation, oxidative stress and neuronal degeneration. To shed more light on the possible alterations of the AGEs-RAGE axis in autism, hereto we measured plasma levels of endogenous secretory RAGE (esRAGE) and its proinflammatory ligand S100A9 in 18 young adults with autistic spectrum disorder (ASD) and 18 age- and gender-matched healthy comparison subjects. The Childhood Autism Rating Scale (CARS) was used to assess the severity of autistic symptoms. Significantly reduced levels of esRAGE (P = 0.0023) and elevated concentrations of S100A9 (P = 0.0012) were found in ASD patients as compared to controls. In autistic patients, there was a statistically significant positive correlation between CARS scores and S100A9 levels (r = 0.49, P = 0.035), but no significant correlation was seen between esRAGE and S100A9 values (r = -0.23, P = 0.34). Our results of a significantly reduced peripheral level of esRAGE coupled with elevated S100A9 point to a subtle but definite dysfunction of the AGEs/RAGE axis in autism that could play a role in the pathophysiology of this disorder.

Adult↗

PubMed2002

Fluoxetine response in children with autistic spectrum disorders: correlation with familial major affective disorder and intellectual achievement.

One hundred and twenty-nine children, 2 to 8 years old, with idiopathic autistic spectrum disorder diagnosed by standard instruments (Childhood Austim Ratings Scale and Autism Diagnostic Observation Schedule) were treated with fluoxetine (0.15 to 0.5mg/kg) for 5 to 76 months (mean 32 to 36 months), with discontinuation trials. Response criteria are described. Family histories were obtained using the family history method in repeated interviews. Fluoxetine response, family history of major affective disorder, and unusual intellectual achievement, pretreatment language, and hyperlexia were used to define a coherent subgroup of autistic spectrum disorder. Statistical analyses were post hoc. Of the children, 22 (17%) had an excellent response, 67 (52%) good, and 40 (31%) fair/poor. Treatment age did not correlate with response. Fluoxetine response correlated robustly with familial major affective disorder and unusual intellectual achievement, and with hyperlexia in the child. Family history of bipolar disorder and of unusual intellectual achievement correlated strongly. Five children developed bipolar disorder during follow-up. Fluoxetine response, family history of major affective disorder (especially bipolar), unusual achievement, and hyperlexia in the children appear to define a homogeneous autistic subgroup. Bipolar disorder, unusual intellectual achievement, and autistic spectrum disorders cluster strongly in families and may share genetic determinants.

Autistic Disorder↗

PubMed1999

Executive function and theory of mind performance of boys with fragile-X syndrome.

Fragile-X syndrome is the most common genetically inherited cause of intellectual disability. People with this syndrome typically show a behavioural profile of abnormal social interactions which are similar in some ways to those seen in people with autism. The present study investigated whether cognitive processes which have been hypothesized to underlie social abnormalities associated with autism are also impaired in boys with fragile-X syndrome without autistic spectrum disorders. Eight boys with fragile-X syndrome and eight with intellectual disability of unknown aetiology, matched on receptive verbal ability, age and with no diagnosis of autism, were tested on a battery of theory of mind and executive function tasks. Significantly more boys with fragile-X syndrome failed the simplest theory of mind task. However, this could be attributed to overall level of ability rather than group membership. No differences were found between the groups on any other measures used. A proportion of both groups failed first- and second-order false belief tasks. The performance of both groups on the executive function measure was at the floor of the test. At low levels of overall ability, the performance of boys with fragile-X syndrome and boys with intellectual disability of unknown aetiology may be more similar than they are different The implication of this result for clinical interventions is discussed.

Adolescent↗

PubMed2002

Double-blind placebo-controlled trial of secretin: effects on aberrant behavior in children with autism.

Secretin has been proposed as a treatment alternative for autistic spectrum disorders, but empirical support is lacking. A double-blind placebo-controlled study examined the effect of a single dose of synthetic human secretin on aberrant behavior. Parent and teacher data from the Aberrant Behavior Checklist for eight male children were analyzed for reliable change in a clinical replication series. By parent and teacher report, the majority of change occurred either on the placebo trial or reflected deterioration subsequent to secretin infusion. Repeated-measures multivariate analysis of variance results were similar. Results are consistent with other studies, suggesting that secretin may not be an effective treatment option.

Autistic Disorder↗

PubMed2002

A systematic review of the use of atypical antipsychotics in autism.

Conventional antipsychotic medication is commonly prescribed to patients with autistic spectrum disorder. However, a high incidence of severe adverse reactions highlights the need to find more favourable treatments. Atypical antipsychotics may combine efficacy in ameliorating some autistic symptoms with a lower incidence of some adverse reactions. This article reviews the use of atypical antipsychotics in autistic disorder, with particular focus on behaviour, cognition and physical well-being. Thirteen studies using risperidone, three using olanzapine, one using clozapine, one using amisulpride and one using quetiapine were identified. Few firm conclusions can be drawn due to the limitations of the studies; however, there is an indication that risperidone may be effective in reducing hyperactivity, aggression and repetitive behaviours, often without inducing severe adverse reactions. Olanzapine and clozapine may also be effective; however, there is little evidence for using amisulpride or quetiapine in this population. Randomized trials are required to clarify the effectiveness of these agents.

Antipsychotic Agents↗