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One hundred people with autistic disorder (DSM-III-R) without a known cause who comprised a total population of children with autism were compared with "autistic-like" children, Asperger syndrome and age-matched comparison children from the general population and were examined with regard to month of birth. There was an excess of March birth in the group of children with autism. The possible reasons for this finding are discussed.
The study examined 75 autistic individuals who met DSM-III-R criteria for autistic disorder at 5 years of age. Diagnosis was based on information elicited using a standardized interview for autism. Two of 75 (2.7%) autistic subjects expressed the fragile X marker (Xq27.3) in 40% of cells counted and had other affected family members. Two additional subjects expressed the fragile X anomaly at low rates (1%). These rates are compared with those reported in other studies. Methodological differences, which may underlie the varying rates reported across studies, are discussed.
This case report presents a thirteen year-old boy who was diagnosed as having Hypomelanosis of Ito. The developmental history includes severe failure to thrive, and moderate atypical autism as well as diverse clinical and neuropsychological symptoms are present. The pattern of neuropsychological functioning, which can be partially related to the neurophysiological findings, is discussed within the context of existing neuropsychological theories about autistic disorders.
Children who are internationally adopted are at increased risk of developmental and behavioral concerns, including attention disorders, learning disorders, and autistic spectrum disorders. In attempting to promote their child's optimal development and well-being, parents of internationally adopted children are faced with the additional stress of having many unanswered and unanswerable questions about their child's early origins. As a result, internationally adopted children and their parents need the support and counsel of their pediatrician as they grow and develop into adulthood. A combination of traditional, complementary, and alternative therapies is the rule rather than the exception for most children with developmental challenges.
In tic disorders, increased seroreactivity against neuronal antigens has been demonstrated, without performing molecular characterization of antigens. Here, unselected patients with a tic disorder were compared with healthy controls, autistic disorder (AD), and obsessive-compulsive disorder (OCD) patients. Seroreactivity against neuroblastoma cells was analyzed by Western blot. Anti-60 kDa binding occurred significantly more frequently in tic disorder patients (67.1%) than in AD (40.0%), OCD (40.0%) and healthy controls (41.9%). Sequence analysis of the 60 kDa protein band identified this as a ubiquitous heat shock protein. However, the involvement of other autoantigens with a molecular weight of 60 kDa cannot be excluded.
OBJECTIVE: We set out to examine the effectiveness and tolerability of psychostimulants in children and adolescents with pervasive developmental disorders (PDDs). METHODS: Medical records of all patients with PDDs treated with a stimulant were retrospectively reviewed. Demographics, stimulant type, drug dosage, trial duration, and adverse effects were recorded. Global improvement, focused on symptoms of hyperactivity and inattention, was measured by the Clinical Global Impressions-Improvement scale, with positive response defined by a rating of much improved or very much improved. RESULTS: Of 195 patients (174 males, 21 females; mean age +/- SD = 7.26 +/- 3.45 years, range 2-19 years), 61 had more than one trial, resulting in a total of 274 separate stimulant trials. It was discovered that 24.6%, 23.2%, and 11.1% of patients with a history of one, two, or three stimulant trials, respectively, responded to their first stimulant trial. Among first trial nonresponders, 6 (14.0%) of 43 patients responded to a second trial. Of those who did not respond to their first or second stimulant trial, 2 (14.3%) of 14 patients responded to a third trial. Patients with Asperger's disorder, in contrast to those with autistic disorder or PDD not otherwise specified, were significantly more likely to respond to a stimulant trial (p < 0.01). Use of concomitant medication (p < 0.007) positively affected response, whereas no association was found between stimulant type and IQ and response. Adverse effects, including agitation, dysphoria, and irritability, often occurred (154 [57.5%] of 268 trials, with 6 missing values). CONCLUSIONS: Overall, stimulants appeared ineffective and poorly tolerated for the majority of patients with PDDs. Response may differ with PDD subtype. Controlled studies are needed to further evaluate these preliminary findings in a systematic manner.
The paper provides clinical and catamnestic descriptions of 240 children with infantile autism; 160 with atypical autism (of them 100 had schizophrenic attacks, 60 presented with mental retardation concurrent with atypical autism (in phenylketonuria, tuberose sclerosis, Down syndrome, Martin-Bell syndrome), 20 with Asperger's syndrome, 60 with Rett's syndrome, 20 with psychogenic paraautism according the Nissen classification. The similarity of autism-like disorders and atypical autism was considered. Syndromal verifications in accordance with ICD-10 (1994) and ICD-10 (1999) in Russian versions and clinical nosological verifications adopted in Russia were studied in all the examinees. New approaches to treating patients with autistic disorders were developed.
The Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS) is described. The PDD-MRS is a simple classification and screening instrument devised for identification of autistic disorders (of the entire spectrum) in persons with mental retardation from mild to profound levels, age-range 2-55 years. The norms of the scale are based on the research protocols of 1230 Dutch persons with mental retardation. The scale's sensitivity for the entire normative sample was found to be 92.4%; calculated separately for persons at all levels of mentally retarded functioning, male and female persons, speaking and non-speaking persons and five age categories, the sensitivity figures range between 87.0 and 100.0%. The specificity of the scale is also 92.4%; for the aforementioned subgroups separately, the specificity figures range between 84.6 and 95.5%. Roughly similar values for sensitivity and specificity were found when using the scale with severely visually impaired/blind persons; severely hearing-impaired/deaf persons; persons with Down syndrome; male persons with fragile X syndrome. The original version of the PDD-MRS dates from 1990; since then the scale has been widely used in the Netherlands and Belgium. The PDD-MRS should be regarded as a useful instrument for identifying PDD in persons with mental retardation.
OBJECTIVES: To review current literature on population, cytogenetic and molecular studies of specific language disorders (SLD) and pervasive developmental disorders (PDD). DEVELOPMENT: Clinical concordance studies in twins and in vertical familial groups suggest polygenic multifactorial modes of inheritance, but in some families an autosomal dominant model may be present. The data favour not a modular, but rather a molar model of the relationship between genes and neural abilities for communicative behaviors. Several extensive genome screenings have demonstrated linkage to specific markers on 7q for SLD, and on 7q and 2q for PDD. The strong evidence of linkage on 7q for both disorders has led to the hypothesis that this region contains several separate quantitative trait loci (QTL) related to different communicative abilities. Mutations in different QTL would facilitate the different disabilities and stereotyped behaviors associated with the phenotypic spectrum of PDD. There are other candidate regions for QTLs but the linkage is weaker and there is little agreement between studies; due, in part, to over extensive inclusion criteria and small sizes of familial groups. CONCLUSIONS: To enhance linkage research in further molecular genetic studies, clinicians must refine behavioral target traits when selecting familial groups and enlarge the size of familial groups by including non handicapped members with related behavioral traits. At present, a chromosome region in 7q shows the strongest evidence for communication related QTL, but other QTL need to be identified elsewhere in the genome in order to explain the genetic contribution to the large spectrum of language and autistic disorders.
AIM: Recent studies on the neuroanatomic, neurofunctional and/or neurochemical features of the autistic disorder (AD) gave many evidences suggesting the hypothesis that different organic factors may lead to a disruption of the cerebral development finally expressing with an autistic pattern. The aim of this study was to study a sample of subjects with AD with a wide protocol, including neurophysiological and radiological investigations as well as laboratory investigations in order to investigate the neurobiologic basis of the syndrome. METHODS: The patients group included 80 subjects diagnosed as having AD. All were examined with a protocol of investigations including: brain MRI; wakefulness and sleep EEG; VEP, ABR; karyotype and search of the fragile X; serum and urinary levels of serotonin, catecolamines, omovanillic acid, aminoacids, ammonium, lactic acid, creatine kinase, piruvic acid, calcium, uric acid, total proteins, antibodies against neurotrophic agents. RESULTS: Eighty-eight percent of subjects had at least one pathologic neurobiological parameter. CONCLUSIONS: This study highlights the different noxae involved in the etiopathogenesis of AD and the percentage that every biological factor has in the development of the autistic phenotype. Furthermore, it confirms that AD corresponds to an atypical behavioural phenotype expression of a cerebral dysfunction with heterogeneous etiology.
Nine highly verbal, nonretarded men, ages 18 to 39, with clearly documented childhood diagnoses of infantile autism were studied with the Wisconsin Card Sorting Test, a measure of conceptual problem solving sensitive to frontal system dysfunction, and with a measure of social-adaptive functioning. Their performances were compared with 10 controls matched for age, sex, education, and IQ, as well as with published norms for various groups of brain-damaged patients. Significant deficits in the formulation of rules and significant perseverative tendencies were documented in the autistic sample. No significant correlation between these deficits and social-adaptive deficits was seen. These findings were discussed with respect to the heterogeneity of the autistic disorder and Damasio's hypothesis concerning frontal-subcortical dysfunction in autism.
Autism is a complex neurological disorder that severely impacts a child's ability to communicate and interact socially. Many treatments have attempted to alleviate the symptoms of autism, but with limited success. After reports of improvements in autistic children who received secretin, this hormone became popular as a possible treatment for autism. Since then, the interest in secretin has greatly increased, as well as the demand for secretin by parents of autistic children. However, there is still limited experimental evidence that supports its effectiveness. Many biological studies and clinical trials were conducted to test the effectiveness of secretin in treating autism. This review discusses the autistic disorder, instruments used in the trials, and reports the findings of some of these studies.
The authors report the case of a 2 1/2-year-old male with autism, with an 18q- chromosomal abnormality in the absence of phenotypical features of the 18q- syndrome. It is suggested that clinicians evaluating children with autistic disorders consider obtaining chromosome analysis, even in the absence of phenotypical abnormalities.
To assess change in autism prevalence in Missouri from 1988 until 1995, computerized client registries from the Regional Diagnostic Centers were analyzed. In the five to nine year age group, the prevalence rose thirty fold from 0.15 to 4.8 per 10,000. The study period coincides with the establishment of the Missouri Autism Project suggesting that provision of services will increase the apparent prevalence figures and that autistic disorders were previously underdiagnosed in Missouri.
Many researchers have suggested that temperament information could be useful for understanding the behavioral variability within the autism spectrum. The purpose of this brief report is to examine temperament profiles of 110 children with ASD (ages 3-8 years, 61 with Autistic Disorder, 42 with PDD-NOS; and 7 with Asperger Disorder) via a commonly used parent report measure of child temperament. Internal consistency of temperament dimensions, test-retest reliability, descriptions of means and standard deviations are examined, relative to previously published norms. Internal consistency of the dimensions and test-retest reliability were comparable to published norms; however, children with autism were rated as presenting with more extreme scores than typically-developing children on several dimensions. Limitations and implications for future work are discussed.
The Autism Diagnostic Observation Schedule-Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test-retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.
There is growing conviction that childhood autism is a biologically based disorder. The evidence that has accrued in a variety of areas pertaining to biological abnormality in autism suggests that, with the possible exception of genetic factors, very few data are available that illuminate the autistic disorder specifically. Neurological models which might be useful in guiding further research are discussed and reasons for the slow progress in this important aspect of the study of autism are identified.
Autism (MIM 209850) is a severe neuropsychiatric disorder of unknown aetiology with profound consequences for patients and their families. Strong evidence from twin and family studies indicates the importance of genetic factors in the development of idiopathic autism, although it is clear that these influences are complex. This review focuses on recent molecular investigations to identify susceptibility loci implicated in autistic disorder.