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PubMed1999

Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.

Previous studies have suggested that the serotonin transporter (5-HTT) gene and the gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene, or other genes in the 15q11-q13 region, are possibly involved in susceptibility to autism. To test this hypothesis we performed an association study on the collection of families from the International Molecular Genetic Study of Autism (IMGSA) Consortium, using the transmission disequilibrium test. Two polymorphisms in the 5-HTT gene (a functional insertion-deletion polymorphism in the promoter and a variable number tandem repeat in the second intron) were examined in 90 families comprising 174 affected individuals. Furthermore, seven microsatellite markers spanning the 15q11-q13 region were studied in 94 families with 182 affected individuals. No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set.

Autistic Disorder↗

PubMed2005

Autism after adolescence: population-based 13- to 22-year follow-up study of 120 individuals with autism diagnosed in childhood.

BACKGROUND: Prospective population-based follow-up study of 120 individuals with autism followed from childhood to adulthood. METHODS: Individuals with autism, diagnosed in childhood, were followed prospectively for a period of 13-22 years and re-evaluated at ages 17-40 years. The instruments used at follow-up were the DISCO, WAIS-R, WISC-III, Vineland Adaptive Behavior Scales, psychiatric-medical examination and GAF-scale. A set of criteria was used for the classification of outcomes, taking into consideration employment, higher education/vocational training, independent living and peer relations. RESULTS: Six of the 120 (5%) had died at the time of follow-up, and six declined participation. Overall outcome was poor in 78% of cases. Only four individuals were independent albeit leading fairly isolated lives. Childhood IQ-level was positively correlated with better adult outcome, as was the existence of some communicative phrase speech at age six years. CONCLUSIONS: Children with autism as diagnosed in the 1960s, 1970s, and 1980s may have an even worse psychosocial outcome than previously believed.

Adolescent↗

PubMed2007

Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale.

Autism susceptibility genes likely have effects on continuously distributed autism-related traits, yet few measures of such traits exist. The Broader Phenotype Autism Symptom Scale (BPASS), developed for use with affected children and family members, measures social motivation, social expressiveness, conversational skills, and flexibility. Based on 201 multiplex families, psychometric data on the BPASS are reported. Adequate inter-rater reliability and internal consistency were found. Parents had lower BPASS scores than affected children, after controlling for IQ. Parents and affected children showed overlapping distributions suggesting the BPASS captured variability in traits across groups. BPASS scores were not correlated with ethnicity or parent education; however, some domains were correlated with IQ. The BPASS holds promise as a quantitative phenotypic assessment for genetic studies.

Autistic Disorder↗

PubMed2007

The Social Communication Assessment for Toddlers with Autism (SCATA): an instrument to measure the frequency, form and function of communication in toddlers with autism spectrum disorder.

The Social Communication Assessment for Toddlers with Autism (SCATA) was designed to measure non-verbal communication, including early and atypical communication, in young children with autism spectrum disorder. Each communicative act is scored according to its form, function, role and complexity. The SCATA was used to measure communicative ability longitudinally in two samples of toddlers with autism spectrum disorder. Overall frequency of non-verbal communicative acts did not change between the two assessments. However, the form and complexity, the function and the role the child took in the interaction did change with time. Both frequency and function of communicative acts in toddlerhood were positively associated with later language ability: social acts, comments and initiations showed greater predictive association than requests and responses.

Autistic Disorder↗

PubMed2005

Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism.

Autistic symptoms begin in the first years of life, and recent magnetic resonance imaging studies have discovered brain growth abnormalities that precede and overlap with the onset of these symptoms. Recent postmortem studies of the autistic brain provide evidence of cellular abnormalities and processes that may underlie the recently discovered early brain overgrowth and arrest of growth that marks the first years of life in autism. Alternative origins and time tables for these cellular defects and processes are discussed. These cellular and growth abnormalities are most pronounced in frontal, cerebellar, and temporal structures that normally mediate the development of those same higher order social, emotional, speech, language, speech, attention, and cognitive functions that characterize autism. Cellular and growth pathologies are milder and perhaps nonexistent in other structures (e.g., occipital cortex), which are known to mediate functions that are often either mildly affected or entirely unaffected in autistic patients. It is argued that in autism, higher order functions largely fail to develop normally in the first place because frontal, cerebellar, and temporal cellular and growth pathologies occur prior to and during the critical period when these higher order neural systems first begin to form their circuitry. It is hypothesized that microstructural maldevelopment results in local and short distance overconnectivity in frontal cortex that is largely ineffective and in a failure of long-distance cortical-cortical coupling, and thus a reduction in frontal-posterior reciprocal connectivity. This altered circuitry impairs the essential role of frontal cortex in integrating information from diverse functional systems (emotional, sensory, autonomic, memory, etc.) and providing context-based and goal-directed feedback to lower level systems.

Autistic Disorder↗

PubMed2002

Coping by redefinition: cognitive appraisals in mothers of children with autism and children without autism.

To test a model of how mothers cope with the stresses of raising a child with autism (Tunali & Power, 1993), mothers of children with and without autism were interviewed. As predicted, mothers of autistic children: (1) placed less emphasis on career success and were more likely to believe that mothers of young children should not work outside of the home; (2) spent more leisure time with their extended family; (3) placed less emphasis on others' opinions of their child's behavior; (4) placed more emphasis on spousal support and parental roles in their discussions of marriage; (5) had more difficulty understanding their child's behavior; and (6) showed a marginally significant difference in their tolerance of ambiguity. Moreover, mothers of children with autism who showed these characteristics had the greatest life satisfaction overall.

Adaptation, Psychological↗

PubMed2002

Understanding embarrassment among those with autism: breaking down the complex emotion of embarrassment among those with autism.

Scenarios manipulating various factors within the emotion of embarrassment, such as whether or not an audience was present when an embarrassing act was committed, the type of audience present, empathic embarrassment, etc., were presented to high-functioning participants with autism and comparison groups of those with learning difficulties and typically developing participants matched for verbal and nonverbal mental age. Participants were required to rate the level of embarrassment of the protagonist and justify their responses. It was predicted that those with autism would differ significantly from the comparison groups in their ratings and also their ability to provide justifications. The results showed those with autism to have difficulty with such concepts as empathic embarrassment but showed a surprisingly good understanding of other variables manipulated such as the presence of an audience.

Adolescent↗

PubMed2003

The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.

A recent study has suggested that the A218G polymorphism in the homeobox A1 (HOXA1) gene may influence susceptibility to autism. We have determined the frequencies of the A and G alleles of the HOXA1 A218G polymorphism in both white and black patients from the South Carolina Autism Project (SCAP) and controls. Marked differences were found in allele frequencies between the races, but no deviations from Hardy-Weinberg equilibrium were seen in either white or black SCAP family members. More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism.

Adolescent↗

PubMed1997

A comparison of speaking and mute individuals with autism and autistic-like conditions on the Autism Behavior Checklist.

The item, total, and subscale scores on the Autism Behavior Checklist (ABC) were compared for 155 mute and 335 speaking individuals with autism spectrum disorders. Although no significant difference was observed between the groups on the ABC total score, the mute group demonstrated significantly more pathology on 21 of 57 items and 3 of 5 subscales. The speaking group obtained significantly higher scores on only 8 items and 1 subscale (Language). The appropriateness of providing greater pathology scores on expressive language items to speaking, rather than to mute, individuals is called into question. The authors speculate whether the expressive language items are weighted too heavily, in regard both to the Language subscale and to the ABC total score. If the expressive language items were removed, the mute group would have significantly higher ABC total scores and therefore a greater degree of autism severity.

Adolescent↗

PubMed2001

Excess of twins among affected sibling pairs with autism: implications for the etiology of autism.

It is widely accepted that genes play a role in the etiology of autism. Evidence for this derives, in part, from twin data. However, despite converging evidence from gene-mapping studies, aspects of the genetic contribution remain obscure. In a sample of families selected because each had exactly two affected sibs, we observed a remarkably high proportion of affected twin pairs, both MZ and DZ. Of 166 affected sib pairs, 30 (12 MZ, 17 DZ, and 1 of unknown zygosity) were twin pairs. Deviation from expected values was statistically significant (P<10(-6) for all twins); in a similarly ascertained sample of individuals with type I diabetes, there was no deviation from expected values. We demonstrate that to ascribe the excess of twins with autism solely to ascertainment bias would require very large ascertainment factors; for example, affected twin pairs would need to be, on average, approximately 10 times more likely to be ascertained than affected non-twin sib pairs (or 7 times more likely if "stoppage" plays a role). Either risk factors (related to twinning or to fetal development) or other factors (genetic or nongenetic) in the parents may contribute to autism.

Autistic Disorder↗

PubMed1998

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

Algorithms↗

PubMed1999

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P -values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11-q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013).

Adolescent↗

PubMed2006

Discrimination of temporal synchrony in intermodal events by children with autism and children with developmental disabilities without autism.

BACKGROUND: This project examined the intermodal perception of temporal synchrony in 16 young children (ages 4 to 6 years) with autism compared to a group of children without impairments matched on adaptive age, and a group of children with other developmental disabilities matched on chronological and adaptive age. METHOD: A preferential looking paradigm was used, where participants viewed non-linguistic, simple linguistic or complex linguistic events on two screens displaying identical video tracks, but one offset from the other by 3 seconds, and with the single audio track matched to only one of the displays. RESULTS: As predicted, both comparison groups demonstrated significant non-random preferential looking to violations of temporal synchrony with linguistic and non-linguistic stimuli. However, the group with autism showed an impaired, chance level of responding, except when presented with non-linguistic stimuli. CONCLUSIONS: Several explanations are offered for this apparently autism-specific, language-specific pattern of responding to temporal synchrony, and potential developmental sequelae are discussed.

Adaptation, Psychological↗

PubMed2005

The hero's story and autism: grounded theory study of websites for parents of children with autism.

Thirty-three websites self-published on the Internet by parents of children with autism were examined using grounded theory. The process that the parents underwent closely follows an outline drawn by Catford and Ray to describe the hero's development. Following diagnosis, parents of children with autism underwent a period of readjustment after which each of the parents described in the study prepared himself or herself for action. In the aftermath, the parents viewed themselves and their offspring in a positive light. At the close of the life narrative, all said they had come to terms with their child's present circumstances and were prepared to help other parents in coping with their children. Our study suggests that the Internet allows stressed parents of children with autism to forge ties among themselves and extricate themselves from their isolation.

Adaptation, Psychological↗

PubMedDate not supplied

[Clinical-radiological evaluation of infantile autism and epileptic syndromes associated with autism].

With the aim of ascertaining the existence of medical conditions associated with autism, the presence of pre- and perinatal factors, family antecedents as well as the prevalence rate of different epileptic syndromes in the juvenile autistic population, we carried out a retrospective observational study and looked at the medical history of 62 autistic children so diagnosed in the neuropaediatric service at Barakaldo Hospital Cruces in the past twenty years. All of them were diagnosed by a child neurologist following DSM-III-R criteria, having been by the same physician on at least one occasion. From the etiologic point of view, eight children (13%) presented specific syndromes, fifteen (23%) presented encephalopathies acquired pre-or perinatally, two (3.2%) had brain tumours and the remaining thirty-seven (61%) presented critogenetic autism. 47% of autistic children were seen to have some kind of epileptic syndrome: six had idiopathic epilepsy (juvenile myoclonic epilepsy 1: partial benign epilepsy with Rolandic point 2 ; petit mal 1; generalised primary epilepsy grand mal type 1); eleven had cryptogenic epilepsy (myoclonic epilepsy 1 ; focal 7; grand mal 1; Lennox 2) and secondary epilepsy in eleven other cases (West 4; focal 6; grand mal). In the literature an epileptic frequency among autistic subjects is quoted as being between 16% and 35% dropping to 6% in slight cryptogenic autistic cases. Our frequency rate among autistic children is much higher, reaching 47% of the total and affecting 46% of cryptogenic autistic cases. There were no cases of polymorphic nursing epilepsy in our series. Idiopathic and cryptogenic epilepsy were more frequent in cryptogenic autism.

Autistic Disorder↗

PubMedDate not supplied

[Rett syndrome and autism. Early comparative evaluation for signs of autism using family movies].

Rett's syndrome progresses in 4 stages: the first signs of the disorder appear after a period of 6 to 7 months, during which development is considered to be normal. This asymptomatic period is apparently an essential criterion of the diagnosis, but some parents have reported some prodromes. In stage II of the disease (before 3 years), signs common with autism dominate the clinical picture and the diagnosis of the latter was often formulated. Our working hypothesis is that the pedopsychiatric analysis of home movies of young girls with Rett's syndrome, taken by the parents before the age of 2, may be able to show early clinical signs. The present study involved examining home movies of children subsequently diagnosed as having Rett's syndrome (n = 9) in comparison to those of autistic (n = 9) and normal (n = 9) children, using semiological evaluation tools (IBSE, BFE). The persons scoring were not advised of the diagnosis. The observations were thus situated before the disorders and/or at the time of their appearance. The study confirms the asymptomatic interval between birth and the first signs of the disease, it defines the mode of onset and shows the disturbance of certain functions such as intent and imitation, more pronounced in Rett's syndrome children between 12 and 18 months. At this age, it also enables Rett's and autistic children to be differentiated on the basis of the different involvement of the "cognition" function and unusual posture, more pronounced in these girls. It does not, however, differentiate Rett's from autism between 6 and 12 months and it is thus not surprising that at this stage the diagnosis of rett's syndrome or autism may be a source of confusion.

Adolescent↗

PubMed2007

Autism post-mortem neuroinformatic resource: the autism tissue program (ATP) informatics portal.

The Autism Tissue Program (ATP) was established to oversee and manage brain donations related to neurological research in autism. The ATP Informatics Portal (www.atpportal.org) is an integrated data access system based on Oracle technology, developed to provide access for researchers to information on this rare tissue resource. It also permits sorting of existing cases based on donor ante-mortem history as well as agonal states and post-mortem tissue conditions. Phase II of development established administrative tracking of registrants intending to donate, as well as management of tissue requests and the awarding and tracking of tissue. Phase III is the ongoing assimilation of data sets derived from research on a core group of donors with searchable access by investigators.

Autistic Disorder↗

PubMed1984

The sex chromosomes--one key to autism? An XYY case of infantile autism.

Genetic/chromosomal factors have recently been proposed as being of importance in many children presenting with the behavioral syndrome of infantile autism. There are several single case studies in the literature of childhood psychosis in connection with the XYY syndrome. A further case of this combination is described. It is suggested that the sex chromosomes may be of major importance in the genesis of some cases of autism.

Autistic Disorder↗