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PubMed2006

Play behaviours and play object preferences of young children with autistic disorder in a clinical play environment.

Play is the primary occupation of childhood and provides a potentially powerful means of assessing and treating children with autistic disorder. This study utilized a cross-sectional comparison design to investigate the nature of play engagement in children with AD (n = 24), relative to typically developing children (n = 34) matched for chronological age. Play behaviours were recorded in a clinical play environment. Videotapes comprising 15 minutes of the children's spontaneous play behaviour were analysed using time-interval analysis. The particular play behaviours observed and play objects used were coded. Differences in play behaviours (p < 0.0001) and play object preferences (p < 0.0001) were identified between the groups. Findings regarding play behaviour contribute to contention in the literature surrounding functional and symbolic play. Explanations for play object preferences are postulated. Recommendations are made regarding clinical application of findings in terms of enhancing assessment and intervention by augmenting motivation.

Autistic Disorder↗

PubMed2005

Autistic spectrum disorders.

Autistic spectrum disorders is a complex developmental disorder with social and communication dysfunction at its core. It has a wide clinical spectrum with a common triad of impairments -- social communication, social interaction and social imagination. Even mild or subtle difficulties can have a profound and devastating impact on the child. To be able to provide suitable treatments and interventions the distinctive way of thinking and learning of autistic children has to be understood. The core areas of social, emotional, communication and language deficits have to be addressed at all levels of functioning. The important goals of assessment include a categorical diagnosis of autism that looks at differential diagnosis, a refined precise documentation of the child's functioning in various developmental domains and ascertaining presence of co-morbid conditions. The interventions have to be adapted to the individual's chronological age, developmental phase and level of functioning. The strategies of curriculum delivery and teaching the child with autism is distinctive and includes presence of structure to increase predictability and strategies to reduce arousal of anxiety.

Age Factors↗

PubMed2003

Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.

We previously observed in four autistic patients a new allele (GXAlu 5) of the GXAlu microsatellite marker located in intron 27b of the neurofibromatosis type 1 (NF1) gene (17q11.2). This large intron contains the OMGP gene, coding for the oligodendrocyte myelin glycoprotein expressed by neurons and oligodendrocytes. In the present work, we analysed the distribution of a coding single nucleotide polymorphism (OMGP62) of the OMGP gene, the nearest gene to the GXAlu marker, in a control population (n=101) and in an autistic group (n=65). We observed no significant difference in allele distribution comparing these two groups (chi(2)=1.81; P=0.179). When distinguishing an autistic group with a developmental quotient (DQ) higher than 30 (n=37) and one with a DQ lower than 30 (n=28), we observed an association between allele A and the group with the highest DQ (P=0.015). We found no other polymorphism using SSCP screening and DNA sequencing in the OMGP coding region in 16 autistic patients bearing OMGP62 allele A.

Adolescent↗

PubMed2006

Ramelteon for insomnia in two youths with autistic disorder.

OBJECTIVE: The aim of this study was to report preliminary data on the effectiveness and tolerability of ramelteon for the treatment of insomnia in youth with autistic disorder (autism). METHOD: Two youths, ages 7 and 18 years, with autism and significant insomnia characterized by problems with sleep onset and maintenance received an open-label trial of ramelteon (4-8 mg) over a duration of 16-18 weeks. RESULTS: Target symptoms of delayed sleep onset and/or frequent nocturnal awakening improved significantly, as determined by Clinical Global Impressions-Improvement (CGI-I) scale ratings of either "much improved" or "very much improved." Ramelteon was well tolerated. No daytime sedation was reported. CONCLUSIONS: This case report illustrates the potential effectiveness and tolerability of ramelteon for sleep disturbances in 2 patients with autism. Further research is needed to verify its safety, tolerability, and efficacy in children and adolescents with autism.

Adolescent↗

PubMed2005

[The Marburg Rating Scale for Asperger's Syndrome (MBAS)--a screening instrument for high-functioning autistic disorders].

OBJECTIVES: Asperger's Syndrome is a disorder of uncertain nosological validity, which is difficult to differentiate from high-functioning autism. Even today these disorders are unfortunately diagnosed very late, often in the wake of earlier, different diagnoses. The purpose of this study is to present a screening instrument (MBAS), which is sensitive to these disorders. METHODS: The instrument was tested among a total of 91 probands (44 of whom had been diagnosed as autistic, and 47 of whom had been diagnosed with a non-autistic disorder). RESULTS: The items on the MBAS were of average difficulty; generally, the all item-total correlation was good. The total scale has an internal consistency of Cronbach's alpha = .91 and the convergent validity of the MBAS and the ADI-R reached r = .61 (p = .001). The total score of the questionnaire discriminated highly significantly between the group with autism and that without. At a sensitivity of 95.5% and a specificity of 95.7% the number of misclassifications is low. False negative classifications occurred only in the case of very young children. CONCLUSIONS: The MBAS is a reliable and valid instrument for screening and generating tentative diagnoses of high-functioning autism. The questionnaire is well suited for the selection and generation of tentative diagnoses of autism on a high-functioning level.

Adolescent↗

PubMed1999

Open-label quetiapine in the treatment of children and adolescents with autistic disorder.

OBJECTIVE: The purpose of this trial was to investigate the short-term safety and efficacy of quetiapine fumarate in the treatment of children and adolescents with autistic disorder (AD). METHOD: This was a 16-week, open-label trial that included 6 male subjects with a mean age of 10.9 +/- 3.3 years. All subjects met the DSM-IV criteria for AD and functioned in the mentally retarded range (mild, n = 2; moderate, n = 3; severe, n = 1). Behavioral ratings were obtained at baseline and every four weeks thereafter. RESULTS: Overall, there was no statistically significant improvement between baseline and endpoint for the group as a whole. Only two subjects completed 16 weeks of treatment and were considered "responders" by the global improvement item of the Clinical Global Impression Scale (CGIS). Dosages ranged from 100 to 350 mg/day (1.6-5.2 mg/kg/day). Subjects dropped out prematurely because of lack of response and sedation, limiting further dose increases (n = 3), and because of a possible seizure during the fourth week of treatment (n = 1). Other significant side effects included behavioral activation, increased appetite and weight gain (range, 0.9 to 8.2 kg). CONCLUSIONS: Quetiapine was poorly tolerated and associated with serious side effects in this clinical population.

Adolescent↗

PubMedDate not supplied

[The dynamics of autistic disorder in a thirteen-year-old boy--a case study].

This article presents the case of a thirteen-year-old boy suffering from autistic disorder. Special attention is paid to the occurrence of social and communicative deficiencies combined with cognitive disturbance which limit possibility of the autistic person to conduct a normal life. The inability to attain the coherence between various development aspects connected with different disharmonies is presented. There are distinctive disorders in respect to socialisation. The difficulties in understanding and anticipating the social environment complexity may disturb the dynamics of behaviour and release the tendency to social withdrawal, isolation and passiveness.

Adolescent↗

PubMed2000

Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.

Adenosine deaminase (ADA) plays a relevant role in purine metabolism, immune responses, and peptidase activity, which may be altered in some autistic patients. Codominant ADA1 and ADA2 alleles code for ADA1 and ADA2 allozymes, the most frequent protein isoforms in the general population. Individuals carrying one copy of the ADA2 allele display 15 to 20% lower catalytic activity compared to ADA1 homozygotes. Recent preliminary data suggest that ADA2 alleles may be more frequent among autistic patients than healthy controls. The present study was undertaken to replicate these findings in a new case-control study, to test for linkage/association using a family-based design, and to characterize ADA2-carrying patients by serotonin blood levels, peptiduria, and head circumference. ADA2 alleles were significantly more frequent in 91 Caucasian autistic patients of Italian descent than in 152 unaffected controls (17.6% vs. 7.9%, P = 0.018), as well as among their fathers. Family-based tests involving these 91 singleton families, as well as 44 additional Caucasian-American trios, did not support significant linkage/association. However, the observed preferential maternal transmission of ADA2 alleles, if replicated, may point toward linkage disequilibrium between the ADA2 polymorphism and an imprinted gene variant located in its vicinity. Racial and ethnic differences in ADA allelic distributions, together with the low frequency of the ADA2 allele, may pose methodological problems to future linkage/association studies. Direct assessments of ADA catalytic activity in autistic individuals and unaffected siblings carrying ADA1/ADA1 vs ADA1/ADA2 genotypes may provide stronger evidence of ADA2 contributions to autistic disorder. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:784-790, 2000.

Adenosine Deaminase↗

PubMedDate not supplied

Autistic disorder: a review for the pediatric dentist.

Dental publications on autism have been sparse since the first comprehensive article geared for the dental profession. New findings on the etiology of autistic disorder (AD) have been discovered, suggesting that it is an organic disorder characterized by abnormalities in the brain, especially the cerebellum and limbic system. This article summarizes the latest medical findings on the etiology, diagnosis, and treatment approaches of AD, and reviews the dental literature since 1969. The main dental topics reviewed are: oral health status and dental needs of patients with AD, characteristics of patients with AD, and self-injurious behavior (SIB) in the context of AD. Clinical behavior-management issues such as pharmacological and communicative techniques and physical restraint and desensitization are described. The affect of the dental office's environment and appointment structure on a patient with AD are presented.

Adult↗

PubMed1996

A case-control study of obstetric complications and later autistic disorder.

The precise etiology of autism remains unclear. Obstetric adversity has been described as one factor that may increase the risk for the disorder. We examined the contemporaneous birth records of 49 children satisfying DSM-III-R criteria for autistic disorder, at four Dublin maternity hospitals, using the previous same-sex live birth in that hospital as a control. Data were evaluated blind to subject status using two obstetric complication (OC) rating scales. No significant differences in obstetric adversity were found between index and control groups. Autistic individuals did not differ from controls in terms of previously described risk factors for this disorder (maternal age, maternal parity, birth order, and low birth weight) in autism. These data do not support the view that OCs increase the risk for later autism.

Adolescent↗

PubMed2006

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the triplicate region does not exceed 300 kb about, that is, the distance from telomere to the first normally inherited marker. In addition, gene dosage analysis performed on the derivative chromosome 21, did not reveal loss of the most telomeric protein-encoding genes on 21p. The potential relationship between a postulated increased expression of genes on 13q34 and the complex phenotype in this trisomic patient is discussed.

Adolescent↗

PubMed1999

Autistic disorders in children with CHARGE association.

Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.

Abnormalities, Multiple↗

PubMed1992

A review of the DSM-III-R criteria for autistic disorder.

The objective of this paper is to review the psychometric properties of the new DSM-III-R criteria for autism. Five data sets were evaluated according to a set of methodological criteria. The results indicate that the DSM-III-R criteria for autistic disorder have, on average, very good sensitivity, but much lower specificity. The implications of this are (a) greater numbers of children diagnosed as autistic; (b) greater numbers of children misdiagnosed as autistic; and (c) greater heterogeneity among samples of autistic children. In essence, the DSM-III-R criteria act more like screening tests than diagnostic criteria. Conceptual and methodologic issues in the evaluation of diagnostic criteria are discussed.

Autistic Disorder↗

PubMed2002

Investigation of antioxidant enzymes in children with autistic disorder.

Impaired antioxidant mechanisms are unable to inactivate free radicals that may induce a number of pathophysiological processes and result in cell injury. Thus, any abnormality in antioxidant defence systems could affect neurodevelopmental processes and could have an important role in the etiology of autistic disorder. The plasma levels of glutathione peroxidase (GSH-Px) and superoxide dismutase (SOD), and erythrocyte levels of GSH-Px were investigated in 45 autistic children and compared with 41 normal controls. Levels of erythrocyte SOD, erythrocyte and plasma GSH-Px were assayed spectrophotometrically. Activities of erythrocyte SOD, erythrocyte and plasma GSH-Px in autistic children were significantly lower than normals. These results indicate that autistic children have low levels of activity of blood antioxidant enzyme systems; if similar abnormalities are present in brain, free radical accumulation could damage brain tissue.

Antioxidants↗

PubMed2003

Continuous giggling and autistic disorder associated with hypothalamic hamartoma.

We present the case of a child affected since early infancy from recurring episodes of giggling mixed with stereotypical behaviours, mingled with head drops, and eventually with falls, in the context of an autistic disorder. Scalp video-EEG recordings revealed an epileptic encephalopathy with generalized slow spike-and-wave complexes alternating with electrodecremental periods, which generally corresponded to the onset of the aforementioned clinical sequences. A resection of a hypothalamic hamartoma was achieved at the age of two. Since then, after 22 months of follow-up, the child is totally free from the giggling and the drops, and the autistic behaviour significantly improved during the second year of follow-up. This case illustrates the difficulties to recognize some subtle ictal manifestations during infancy and childhood, and encourages the early surgical treatment of hypothalamic hamartomas when associated with epileptic encephalopathy and when technically possible.

Autistic Disorder↗

PubMed2001

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Autism is a neuropsychiatric disorder characterized by impairments in social interaction, restricted and stereotypic pattern of interest with onset by 3 years of age. The results of genetic linkage studied for autistic disorder (AD) have suggested a susceptibility locus for the disease on the long arm of chromosome 7. We report a girl with AD and a balanced reciprocal translocation t(5;7)(q14;q32). The mother carries the translocation but do not express the disease. Fluorescent in situ hybridization (FISH) analysis with chromosome 7-specific YAC clones showed that the breakpoint coincides with the candidate region for AD. We identified a PAC clone that spans the translocation breakpoint and the breakpoint was mapped to a 2 kb region. Mutation screening of the genes SSBP and T2R3 located just centromeric to the breakpoint was performed in a set of 29 unrelated autistic sibling pairs who shared at least one chromosome 7 haplotype. We found no sequence variations, which predict amino acid alterations. Two single nucleotide polymorphisms were identified in the T2R3 gene, and associations between allele variants and AD in our population were not found. The methylation pattern of different chromosome 7 regions in the patient's genomic DNA appears normal. Here we report the clinical presentation of the patient with AD and the characterization of the genomic organization across the breakpoint at 7q32. The precise localization of the breakpoint on 7q32 may be relevant for further linkage studies and molecular analysis of AD in this region.

Autistic Disorder↗

PubMed2000

Occurrence of tics in Asperger's syndrome and autistic disorder.

Asperger's syndrome is a condition in the autistic spectrum in which language development is normal. Patients with Asperger's syndrome frequently exhibit repetitive movements (stereotypies), and can have motor and phonic tics in addition to other behavioral abnormalities. We present 12 patients with autistic spectrum disorders who were referred to our Movement Disorders Clinic for evaluation of tics. Eight of the 12 had normal language development and therefore met criteria for Asperger's syndrome. All patients exhibited stereotypic movements; in addition, seven had tics and six of these met diagnostic criteria for Tourette syndrome. Of the six patients with clinical features of both Asperger's syndrome and Tourette syndrome, three had severe congenital sensory deficits. The autistic patients in our series were clinically heterogeneous and though tics were clearly present, other aberrant movements demonstrated by them were harder to classify. Our series confirms the wide range of clinical manifestations in Asperger's syndrome and autism, including tics and other features of Tourette syndrome. Furthermore, it suggests that sensory deprivation contributes to the development of adventitious movements in this population.

Adolescent↗

PubMed2004

A pilot study of D-cycloserine in subjects with autistic disorder.

OBJECTIVE: The authors assessed the effects of D-cycloserine on the core symptom of social impairment in subjects with autism. METHOD: Following a 2-week, single-blind placebo lead-in phase, drug-free subjects with autistic disorder were administered three different doses of D-cycloserine during each of three 2-week periods. Measures used for subject ratings included the Clinical Global Impression (CGI) scale and Aberrant Behavior Checklist. RESULTS: Significant improvement was found on the CGI and social withdrawal subscale of the Aberrant Behavior Checklist. d-Cycloserine was well tolerated at most of the doses used in this study. CONCLUSIONS: In this pilot study, D-cycloserine treatment resulted in significant improvement in social withdrawal. Further controlled studies of D-cycloserine in autism appear warranted.

Adolescent↗