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PubMed2004

Mothers supporting children with autistic spectrum disorders: social support, mental health status and satisfaction with services.

Parents of children with autistic spectrum disorders (ASDs) are more likely to experience serious psychological distress than parents of children with other developmental disabilities. To examine the impact of a range of factors on psychological wellbeing, interviews were undertaken with 68 mothers of children with ASDs to explore aspects of social support, mental health status and satisfaction with services. Findings indicated that over half of mothers screened positive for significant psychological distress and that this was associated with low levels of family support and with bringing up a child with higher levels of challenging behaviour. Mothers were more likely to report lower levels of support if they were a lone parent, were living in poor housing, or were the mother of a boy with ASD. The study also investigated areas of useful support and areas of unmet need, the latter including care breaks and advice needs.

Adult↗
PubMed2006

Medical investigation of children with autistic spectrum disorders.

Few well-constructed studies have systematically evaluated medical investigation protocols for children with autistic spectrum disorders. This is in large part due to the heterogeneous nature of the population and changing diagnostic frameworks. This review outlines the studies that have directed investigation strategies to date, and discusses how these might be applied in the clinical situation. The importance of listing the conditions that may be present on the basis of the specific clinical presentation, and using a thorough history and examination to generate a pre-test probability of the target disorders is emphasized if tests are to be useful in directing therapy or broader management approaches.

Autistic Disorder↗
PubMed2005

Differences among states in the identification of autistic spectrum disorders.

OBJECTIVE: To explore variation among the 50 US states in the administrative prevalence of autistic spectrum disorders (ASDs) and factors associated with that variation. DESIGN: This survey study used secondary data from all 50 states obtained from the US Department of Education, Washington, DC, and the American Board of Pediatrics, Chapel Hill, NC. MAIN OUTCOME MEASURE: The outcome of interest was the proportion of children identified with ASD in the academic year 2000-2001. Linear regression was used to examine its association with education and health system characteristics. RESULTS: States ranged in the proportion of children diagnosed with ASD from 0.6 per 1000 to 4.6 per 1000 in 2000-2001. In adjusted analyses, education-related spending, the number of pediatricians in the state, and the number of school-based health centers in the state were positively associated with the administrative prevalence of ASD. CONCLUSIONS: Variation in the administrative prevalence of ASD is associated with education-related spending, which may be associated with better-trained educational staff who can recognize the problem, and more and better trained in-school specialists who can provide screening. It is also associated with the availability of health care resources. Increased access to pediatricians and school-based health centers may lead to improved recognition of ASD. Interstate variability in the identification of ASD should be taken into account when interpreting the results of prevalence studies based on administrative data and the associated system characteristics taken into account by policy makers working to improve the recognition of ASD.

Adolescent↗
PubMed2001

A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.

BACKGROUND: Proximal chromosome 15q is implicated in neurodevelopmental disorders including Prader-Willi and Angelman syndromes, autistic disorder and developmental abnormalities resulting from chromosomal deletions or duplications. A subset of genes in this region are subject to genomic imprinting, the expression of the gene from only one parental allele. RESULTS: We have now identified the NDNL2 (also known as MAGE-G) gene within the 15q autistic disorder susceptibility region and have mapped its murine homolog to the region of conserved synteny near necdin (Ndn) on mouse Chr 7. NDNL2/MAGE-G is a member of a large gene family that includes the X-linked MAGE cluster, MAGED1 (NRAGE), MAGEL2 and NDN, where the latter two genes are implicated in Prader-Willi syndrome. We have now determined that NDNL2/Ndnl2 is widely expressed in mouse and human fetal and adult tissues, and that it is apparently not subject to genomic imprinting by the PWS/AS Imprinting Center. CONCLUSION: Although NDNL2/MAGE-G in the broadly defined chromosome 15 autistic disorder susceptibility region, it is not likely to be pathogenic based on its wide expression pattern and lack of imprinted expression.

Amino Acid Sequence↗
PubMed2003

Measuring the parental, service and cost impacts of children with autistic spectrum disorder: a pilot study.

The aim of this study was to carry out a preliminary examination of a research instrument developed specifically to collect cost information for individuals with autistic spectrum disorder. There is very little cost information on children or adults with autism or autism-related disorder, and no study appears to have carried out a specific cost collection in this area. Although some global cost estimates can be made, little is known about the cost implications of parental burden. By using different techniques to collect indirect costs, the study outlines a functional methodology. Results from this small pilot study point to considerable economic burden for parents and give some indication of the associated costs of autistic spectrum disorder.

Adult↗
PubMed2004

Auditory hypersensitivity in children and teenagers with autistic spectrum disorder.

OBJECTIVE: To verify if the clinical behavior of auditory hypersensitivity, reported in interviews with parents/caregivers and therapists/teachers of 46 children and teenagers suffering from autistic spectrum disorder, correspond to audiological findings. METHOD: The clinical diagnosis for auditory hypersensitivity was investigated by means of an interview. Subsequently, a test of the acoustic stapedial reflex was conducted, and responses to intense acoustic stimulus in open field were observed. RESULTS: Of the 46 subjects, 11 (23.9%) were clinically diagnosed as oversensitive to sound and only 2 showed discomfort when exposed to intense acoustic stimulus in open field. There was no statistically significant difference for the test of the ipsilateral acoustic stapedial reflex between the groups. CONCLUSION: Behavioral manifestations to sounds are not associated to hypersensitivity of the auditory pathways, but instead these are associated to difficulties in the upper processing, involving systems that usually are impaired in autistic spectrum patients, such as the limbic system.

Acoustic Stimulation↗
PubMed2000

Childhood disintegrative disorder: should it be considered a distinct diagnosis?

First termed Dementia Infantilis by Theodore Heller in 1908, Childhood Disintegrative Disorder (CDD) has had a history longer than that of Autistic Disorder. Presently, CDD is classified as a Pervasive Developmental Disorder in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders. The characteristics most often cited as distinguishing CDD from Autistic Disorder, another one of the Pervasive Developmental Disorders, is the age of onset and evidence of normal development prior to the presence of symptomatology. Otherwise, the behavioral symptoms of CDD and Autistic Disorder are strikingly similar. The purpose of this article is to provide a historical background on CDD, examine the evolution of diagnostic criteria, review the existing literature pertaining to the disorder, and, finally, to draw conclusions regarding the validity of CDD as a distinct diagnosis with reference to current and alternative classification approaches.

Age of Onset↗
PubMed2004

A survey of parents' reactions to the diagnosis of an autistic spectrum disorder by a local service: access to information and use of services.

We conducted a postal survey of parents whose child had been diagnosed with an autistic spectrum disorder by a district diagnostic service. The service was regarded as having improved significantly following recent changes, but there were still shortcomings. Parents had obtained useful information from a range of other sources, including a parents' support group, school teachers, speech and language therapists, educational psychologists, the Internet, books and academic journals. Special units and schools were rated as the most useful source of support and treatment, but many other interventions were rated highly. Parents reported a diverse range of both negative and positive consequences of diagnosis, and many reported a change in their attitudes to diagnosis over time. Many expressed frustration with trying to get an early diagnosis, with the social, educational and health services, and with the way that autistic spectrum disorders are regarded by lay people and other parents.

Adult↗
PubMed2005

A training study of theory of mind and executive function in children with autistic spectrum disorders.

This study investigated the relationship between theory of mind and executive functioning in children with autistic spectrum disorders through a training study. Ten children were trained on theory of mind, whilst ten were trained in executive function. Seven children were assigned to a control group, receiving no intervention. Training programmes were administered individually, lasting for 25 minutes per day for 5-10 days. Children were tested before training, after training and at a two-month follow-up. Significant improvements were seen in performance on theory of mind tasks in both trained groups, whilst the control group showed no improvement. No improvement on the executive function tasks was seen in any of the groups. The implications of these findings are discussed.

Adolescent↗
PubMed2003

A pilot evaluation study of the Picture Exchange Communication System (PECS) for children with autistic spectrum disorders.

A pilot study was conducted to evaluate the effects of training teachers of children with autistic spectrum disorders (ASDs) in the use of the Picture Exchange Communication System (PECS). Thirty-four children with ASDs (29 boys and 5 girls) were selected from eight specialist schools. Teaching staff attended a 2 day PECS workshop and received six half-day visits from PECS consultants. Data on the children's use of PECS, spontaneous communication, and adaptive behaviour were collected before the study and at set times following the workshop. Significant, rapid increases were recorded in the level of PECS attained by the children, in their PECS vocabulary, and in their frequency of PECS use over time. Improvements in children's general level of communication were slower to occur. The majority of participants showed improvements in their ability to use PECS. The results are discussed in relation to the methodological and practical difficulties that arose during the project.

Autistic Disorder↗
PubMed2005

From complexity to category: responding to diagnostic uncertainties of autistic spectrum disorders.

OBJECTIVE: Recent data from Education Queensland has identified rising numbers of children receiving diagnoses of autistic spectrum disorder (ASD). Faced with funding diagnostic pressures, in clinical situations that are complex and inherently uncertain, it is possible that specialists err on the side of a positive diagnosis. This study examines the extent to which possible overinclusion of ASD diagnosis may exist in the presence of uncertainty and factors potentially related to this practice in Queensland. METHODS: Using anonymous self-report, all Queensland child psychiatrists and paediatricians who see paediatric patients with development/behavioural problems were surveyed and asked whether they had ever specified an ASD diagnosis in the presence of diagnostic uncertainty. Using logistic regression, elicited responses to the diagnostic uncertainty questions were related to other clinical- and practice-related characteristics. RESULTS: Overall, 58% of surveyed psychiatrists and paediatricians indicated that, in the face of diagnostic uncertainty, they had erred on the side of providing an ASD diagnosis for educational ascertainment and 36% of clinicians had provided an autism diagnosis for Carer's Allowance when Centrelink diagnostic specifications had not been met. CONCLUSION: In the absence of definitive biological markers, ASD remains a behavioural diagnosis that is often complex and uncertain. In response to systems that demand a categorical diagnostic response, specialists are providing ASD diagnoses, even when uncertain. The motivation for this practice appears to be a clinical risk/benefit analysis of what will achieve the best outcomes for children. It is likely that these practices will continue unless systems change eligibility to funding based on functional impairment rather than medical diagnostic categories.

Autistic Disorder↗
PubMedDate not supplied

Red blood cell fatty acid compositions in a patient with autistic spectrum disorder: a characteristic abnormality in neurodevelopmental disorders?

The fatty acid compositions of red blood cell (RBC) phospholipids from a patient with autistic spectrum disorder (ASD) had reduced percentages of highly unsaturated fatty acids (HUFA) compared to control samples. The percentage of HUFA in the RBC from the autistic patient was dramatically reduced (up to 70%) when the sample was stored for 6 weeks at -20 degrees C. However, only minor HUFA reductions were recorded in control samples stored similarly, or when the autistic sample was stored at -80 degrees C. A similar instability in RBC HUFA compositions upon storage at -20 degrees C has been recorded in schizophrenic patients. In a number of other neurodevelopmental conditions, including attention deficit hyperactivity disorder (ADHD) and dyslexia, reduced concentrations of RBC HUFA have been recorded. The extent and nature of these aberrations require further assessment to determine a possible common biochemical origin of neurodevelopmental disorders in general. To facilitate this, a large scale assessment of RBC fatty acid compositions in patients with ASD, and related disorders, should be performed as a matter of urgency. Supplementing cells in culture with the tryptophan metabolite indole acrylic acid (IAA) affected the levels of cellular HUFA and prostaglandin production. Indole acroyl glycine (IAG), a metabolite of IAA excreted in urine, is found in high concentrations in patients with neurodevelopmental disorders including ASD, ADHD, dyslexia, Asperger's syndrome and obsessive compulsive disorder.

Asperger Syndrome↗
PubMed2006

Autistic spectrum disorders 2: diagnosis and management.

As many as six in every 1000 children may be affected by an autistic spectrum disorder. The previous article of this two-part series discussed the distinction between autism, Asperger's syndrome and pervasive developmental disorder, and examined the assessment process. This article looks at potential differential diagnoses that must be considered, as well as conditions associated with autism. Many theories about the causes of autism have been suggested, including the MMR vaccine. Recent research has suggested that there is no link between the vaccine and autism. There is no cure for autism, but intervention and management techniques should be aimed at educating parents and carers about the disorder and behavioural interventions to aid the child's skills development.

Antipsychotic Agents↗
PubMed2006

[Autistic spectrum disorders in very young children: issues in the diagnostic process].

The diagnosis of very young children with autistic spectrum disorders and differentiating the disorder from mental retardation are difficult in the early years. Some efforts to improve diagnostic practice are reviewed. The usefulness of standardized behavioural rating scales, observation of core deficits in communication and play and parental reports are discussed in view of the author's experience with 13 children (2-4 years of age). Even in the case of diagnostic uncertainty, focussing early intervention on core symptoms of autism and supporting responsive parent-child interactions is recommended in order to prevent further social isolation of children with autistic features.

Autistic Disorder↗
PubMed2005

Diagnosis of autistic spectrum disorders in Queensland: variations in practice.

OBJECTIVE: For both paediatricians and child psychiatrists, referrals to assess possible autistic spectrum disorders (ASD) are increasing. This study examines current practices of medical specialists in the assessment of these disorders. METHODS: An anonymous, self-report questionnaire was sent to all Queensland paediatricians and child psychiatrists. The survey elicited frequencies of consultation for ASD, diagnostic method, advice provided and perceived adequacy of training for this work. RESULTS: Responses were received from 79 (85%) eligible paediatricians and 26 (58%) eligible child psychiatrists. For one-third of all clinicians, new consultations for possible ASD occurred as often as 2-3 times per week. Most specialists approached the clinical diagnosis of ASD by considering history from different sources and professional assessments. Paediatricians (86%) were more likely than child psychiatrists (62%) to request genetic studies for children with severe autism (P = 0.01). Both general paediatricians and developmental paediatricians perceived level of training for possible ASD consultations was significantly worse than child psychiatrists (P < 0.001 and P = 0.02, respectively), but no difference was found between paediatric groups (P = 0.27). Perceived adequacy of specialist training was not associated with length of experience in clinical practice. CONCLUSION: Medical practice in Queensland around diagnosis of ASD is characterized by considerable variability. There is still a long way to go if we are to achieve consistency around medical issues of organic diagnosis and practices impacting on health as well as consideration of differential developmental diagnoses. The finding that recently trained paediatricians felt just as unprepared for this work as their older colleagues suggests that the graduate training response to this 'new morbidity' has not been adequate.

Autistic Disorder↗