Form Of Pervasive Developmental Disorder Research Articles

Significant associations between 5-hydroxytryptaminetransporter-linked promoter region polymorphisms of the serotonin transporter (solute carrier family 6 member 4) gene and Thai patients with autism spectrum disorder.

Autism spectrum disorder (ASD) is a form of pervasive developmental disorder manifested by impairment in social interactions and repetitive behaviors. Although genetic contribution is strongly suspected in autism, the specific genetic factors remain unidentified. Hyperserotoninemia has been reported in some autistic patients, and several studies have demonstrated an association between 5-hydroxytryptamine-transporter-linked promoter region (5-HTTLPR) polymorphisms and rs25531 single nucleotide polymorphism in the serotonin transporter gene (solute carrier family 6 member 4; SLC6A4) and ASD, indicating a possible involvement of the serotonin system in the etiology of ASD.To explore this situation further, a case-control association study of 5-HTTLPR and rs25531 polymorphisms on Thai ASD patients was conducted. A total of 188 ASD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) criteria (156 males and 32 females) and a total of 250 normal controls were recruited from the same ethnic backgrounds. 5-HTTLPR polymorphisms (Long, L; Short, S) and rs25531 (A/G) single nucleotide polymorphism were genotyped and compared between the patients and normal controls using chi-square statistics.The L/L genotype was more common in patients than in the controls (13.8% vs 5.2%, P = .006), and the LA haplotype was found in patients more than the controls (16.9% vs 12.2%, P = .048). When male patients were analyzed alone (156 individuals), the associations were also statistically significant with P = .017 for L/L genotype, and P = .019 for LA haplotype distribution.Our findings support previous reports suggesting an association between the 5-HTTLPR and rs25531 polymorphisms of SLC6A4 and patients with ASD.

Coffin Siris Syndrome with Significant Autistic Features.

Abstract Coffin Siris Syndrome is a rare genetic dysmorphic disorder that was first described by Coffin and Siris in 1970. It is associated with mental retardation and distinctive coarse facial features including wide nose, wide mouth with thick everted upper and lower lips, thick eyebrows and lashes, hirsutism/hypertrichosis. Sparse scalp hair particularly in the temporal areas. Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab. The occurrence of significant autistic features in form of pervasive developmental disorder or autism has been very infrequently reported in association with Coffin Siris syndrome. This aim to report which is most probably the seventh case of Coffin Siris Syndrome associated with significant autistic features. The case is the second case of this syndrome in Iraq which is also the case number 170 in the world.

Delayed automatic detection of change in speech sounds in adults with autism: A magnetoencephalographic study

Objective Autism is a form of pervasive developmental disorder in which dysfunction in interpersonal relationships and communication is fundamental. This study evaluated neurophysiological abnormalities at the basic level of language processing, i.e. automatic change detection of speech and non-speech sounds, using magnetoencephalographic recording of mismatch response elicited by change in vowels and tones. Methods The auditory magnetic mismatch field (MMF) was evaluated in 9 adults with autism and 19 control subjects using whole-head magnetoencephalography. The MMF in response to the duration change of a pure tone or vowel /a/ and that in response to across-phoneme change between vowels /a/ and /o/, were recorded. Results The groups were not significantly different in MMF power under any conditions. However, the autism group showed a left-biased latency prolongation of the MMF particularly under the across-phoneme change condition, and this latency delay was significantly associated with greater symptom severity. Conclusions These results suggest that adults with autism are associated with delayed processing for automatic change detection of speech sounds. These electrophysiological abnormalities at the earliest level of information processing may contribute to the basis for language deficits observed in autism. Significance These results provide the first evidence for delayed latency of phonetic MMF in adults with autism.

Social skills in children with intellectual disabilities with and without autism

Social skills were studied in 363 children with mild intellectual disabilities (ID) and 147 with moderate ID with and without autism (age 4 through 18). The objective was to investigate the value of the Children's Social Behaviour Questionnaire (CSBQ), as a measure of subtle social skills, added to a measure of basic social skills with the Vineland Adaptive Behaviour Scales (VABS), in identifying children with ID with or without autism. Children with mild and moderate ID, with and without autistic symptomatology were compared on basic social skills, measured with the Communication and Socialization domains of the VABS, and subtle social skills, measured with the CSBQ. Measuring basic social skills is not sufficient in differentiating between levels of ID. Communicative skills and subtle social skills, that concern overlooking activities or situations and fear of changes in the existing situation, seem to play a far greater role. Additionally, with respect to identifying autistic symptomatology, basic social skills do not contribute, as opposed to communicative skills and the tendency to withdraw from others. The results implicate that the CSBQ not only has specific value as a measure of subtle social skills to identify pervasive developmental disorders, but that the instrument also has a specific contribution to differentiating between the two levels of ID. Furthermore, our outcomes imply a slight difference between limitations in subtle social skills as mentioned by the AAMR (American Association on Mental Retardation 2002) and limitations in subtle social skills as seen in milder forms of pervasive developmental disorders. Clinical and theoretical implications will be discussed.

Quantifying Dimensions in Autism: A Factor-Analytic Study

The objective of this study was to determine whether the phenotypic variation in autism and the related pervasive developmental disorders (PDDs) is a unitary construct or whether it is composed of distinct dimensions of autistic symptoms and measures of level of functioning. One hundred twenty-nine children with autism and other forms of PDD from two samples with different inclusion criteria were assessed with the Vineland Adaptive Behavior Scales to measure level of functioning and the Autism Diagnostic Interview to measure severity of autistic behaviors. A factor analysis with varimax rotation was performed on each sample, separately and combined. Two factors emerged; one representing autistic symptoms and another representing level of functioning. The factor structure was remarkably similar and robust to variations in ascertainment and inclusion criteria between the samples. The validity of the distinction was supported by differences between males and females on the symptom factor, but not on the level of functioning factor. IQ was modestly correlated with level of functioning, but not with symptoms. The phenotypic variation seen in autism/PDD is composed of at least two different dimensions of autistic symptoms and level of functioning. The implications of this dimensional heterogeneity for research, classification, and clinical practice are discussed.

The epidemiology of autism: a review.

There is some uncertainty about the rate and correlates of autism. Twenty-three epidemiological surveys of autism published in the English language between 1966 and 1998 were reviewed. Over 4 million subjects were surveyed; 1533 subjects with autism were identified. The methodological characteristics of each study are summarized, including case definition, case-finding procedures, participation rates and precision achieved. Across surveys, the median prevalence estimate was 5.2/10000. Half the surveys had 95% confidence intervals consistent with population estimates of 5.4-5.5/10000. Prevalence rates significantly increased with publication year, reflecting changes in case definition and improved recognition; the median rate was 7.2/10 000 for 11 surveys conducted since 1989. The average male/female ratio was 3.8:1, varying according to the absence or presence of mental retardation. Intellectual functioning within the normal range was reported in about 20% of subjects. On average, medical conditions of potential causal significance were found in 6% of subjects with autism, with tuberous sclerosis having a consistently strong association with autism. Social class and immigrant status did not appear to be associated with autism. There was no evidence for a secular increase in the incidence of autism. In eight surveys, rates for other forms of pervasive developmental disorders were two to three times higher than the rate for autism. Based on recent surveys, a minimum estimate of 18.7/10000 for all forms of pervasive developmental disorders was derived, which outlines the needs in special services for a large group of children.

High phenotypic correlations among siblings with autism and pervasive developmental disorders.

The objective of this study was to examine familial factors influencing clinical variation in sibships that contained at least 2 children affected with autism or another form of pervasive developmental disorder (PDD). The sample included a total of 60 families, 23 with multiple cases of PDD and 37 with a single affected child. Measurements of IQ, adaptive behaviors in socialization and communication, and autistic symptoms were taken on all affected children. A high intraclass correlation, especially on IQ and an index of social behaviors, was observed between affected children from the same family. In contrast, low correlations were observed on measurements of IQ and adaptive behavior between affected and unaffected children from the same family. These data indicate that variation in severity of PDD is influenced by familial, and probably genetic, mechanisms. The results are discussed in relation to current theories on the genetics of autism and the heritable mechanisms underlying variations in clinical severity.

Examining serotonin function: A modified technique for rapid tryptophan depletion

behavior, cognitive functioning, and impulsivity. Milder forms of pervasive developmental disorders may be misdiagnosed, or emphasis may be placed on other deficits in communication and socialization. Asperger's syndrome, a category of pervasive developmental disorder, has received increasing scrutiny. Wing ( 1981 ), Nagy and Szatmari (1986), and Tantam (1988), have delineated the characteristics of this disorder, including impairment in empathy, an extreme degree of social isolation, and difficulty understanding appropriate social rules. We present flmr cases of Asperger's syndrome presenting in later life, referred to us with behavioral symptoms of hyperactivity, poor impulse control, and attentional difficulties. Neuropsychological evaluation suggested dysfunctions in sociability, verbal and nonverbal expressiveness, and engrossing and idiosyncratic interests and clumsiness, all of which represent the current DSM-IV diagnosis of Asperger's syndrome. We present four cases at differing ages of diagnosis, their demographics, and their phenomenological findings. We hope to alert readers to clinical pitfalls and call attention to the existence of this little-known and fascinating disorder.

Genetic Influences in Autism

Autism represents a prototypical form of pervasive developmental disorder. In the majority of narrowly defined cases, there is no clearly identifiable aetiology. In this paper, the evidence for genetic influences that stems from twin, family, cytogenetic and molecular genetic studies is reviewed. It suggests that genetic factors play a predominant role in the origins of a more broadly defined phenotype, characterized by a combination of cognitive and social deficits. Genetic mechanisms that may account for the findings, including single gene, mixed and multifactorial models are evaluated and directions for future research are considered.

HYPERPHAGIA IN FOSTER CARE CHILDREN

Hyperphagia, defined as excessive appetite, characterized by a grossly increased intake of and constant searching for food, was noted in a group of 15 foster children evaluated for developmental impairment or behavioral management problems. Caretakers described these children's eating habits as showing a driven quality without achievement of satiety or pleasure. These behaviors were evident when the children first came into foster care and often persisted over time. The hyperphagia did not result in excess weight gain; only one child achieved substantial increase in weight on followup. The children in the group tended to have mild degrees of intellectual impairment, while emotional and behavioral problems were frequent and severe. 80% of the children functioned in the mildly retarded range; 53% had Attention Deficit Disorder with Hyperactivity and 47% had a form of Pervasive Developmental Disorder. Speech and language problems were common; 73% had articulation disorders and 40% other types of language impairment. Sixty percent of the biological mothers were known to have histories of alcohol and/or drug abuse. Though eating disorders have been described among mentally retarded individuals, there is no report of long-term hyperphagia among children with mild mental retardation with the exception of Prader-Willi syndrome. Its presence signals the existence of substantial childhood psychopathology as well as the increased risk for deviant behaviors in adulthood.