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PubMed2002

Reduced blood levels of reelin as a vulnerability factor in pathophysiology of autistic disorder.

1. Autism is a severe neurodevelopmental disorder with potential genetic and environmental etiologies. Recent genetic linkage reports and biochemical analysis of postmortem autistic cerebellum point to Reelin, an important secretory extracellular protein, as being involved in the pathology of autism. 2. We hypothesized that blood levels of Reelin and its isoforms would be altered in autistic twins, and their first degree relatives versus normal controls. 3. We measured blood levels of unprocessed Reelin (410 kDa) and its proteolytic cleavage products (Reelins 330 and 180 kDa) as well as albumin and ceruloplasmin in 28 autistic individuals, their parents (13 fathers, 13 mothers), 6 normal siblings, and 8 normal controls using SDS-PAGE and western blotting. 4. Results indicated significant reductions in 410 kDa Reelin species in autistic twins (-70%, p < 0.01), their fathers (-62%, p < 0.01), their mothers (-72%, p < 0.01), and their phenotypically normal siblings (-70%, p < 0.01) versus controls. Reelin 330 kDa values did not vary significantly from controls. Reelin 180 kDa values for parents (fathers -32% p < 0.05 vs. controls, mothers -34%) declined when compared to controls. In contrast autistic Reelin 180 kDa increased, albeit nonsignificantly versus controls. Albumin and ceruloplasmin values for autistics and their first degree relatives did not vary significantly from controls. There were no significant meaningful correlations between Reelin, albumin and ceruloplasmin levels, age, sex, ADI scores, or age of onset. 5. These results suggest that Reelin 410 deficiency may be a vulnerability factor in the pathology of autism.

Adult↗
PubMed1994

Language and communication in autistic disorders.

Communication problems form one of the key diagnostic criteria for autism, but there is a wide variety of manifestations. The theory that autistic individuals are unable to represent mental states can shed light on both the nature and range of communication impairments. This theory predicts that the specific communication deficit lies in the use of language to affect other minds. Language is not special in this respect, and is important only in so far as it may be used to give evidence of a speaker's thoughts and intentions. Thus, in autism, language level would be expected to relate strongly to performance on standard tests of theory of mind. Normal language acquisition appears to build upon the ability to recognize and orient towards ostensive behaviour. For this reason, it may not be necessary to postulate additional language impairments in order to explain the almost universal prevalence of language delay in children with autism. Autism, then, provides a model for studying the important distinction between language and communication, and demonstrates the vital part which mind-reading plays in normal human verbal and non-verbal interaction.

Autistic Disorder↗
PubMed2001

Reports on dietary intervention in autistic disorders.

Autism is a developmental disorder for which no cure currently exists. Gluten and/or casein free diet has been implemented to reduce autistic behaviour, in addition to special education, since early in the eighties. Over the last twelve years various studies on this dietary intervention have been published in addition to anecdotal, parental reports. The scientific studies include both groups of participants as well as single cases, and beneficial results are reported in all, but one study. While some studies are based on urinary peptide abnormalities, others are not. The reported results are, however, more or less identical; reduction of autistic behaviour, increased social and communicative skills, and reappearance of autistic traits after the diet has been broken.

Adult↗
PubMed1998

A patient with autistic disorder and a 20/22 chromosomal translocation.

The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45,XY, -22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.

Autistic Disorder↗
PubMed2004

Urinary methylxanthine and autistic disorder: absence of previously reported correlation.

We were unable to reveal significant difference in the levels of xanthine and methylxanthines in the urine samples from 59 patients diagnosed with autistic symptoms and 64 age- and sex-matched normal volunteers. Our data suggest that abnormalities in xanthine and methylxanthine excretion (US Patent 20020019406 A1, Feb. 12, 2002) represent distincly uncommon symptoms in autism.

Autistic Disorder↗
PubMed2003

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

We report on a 3-year-old boy with a moderate to severe mental retardation, autistic behavior patterns, and myoclonic epilepsy of early childhood. The cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 20pter --> p12.2 occurring as mosaicism in 8% of the analyzed metaphases: 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. The deletion was confirmed by the recently developed multicolor banding approach and additionally by region specific fluorescence in situ hybridization (FISH) probes. To the best of our knowledge, this is the first report on a patient with autistic behavior with terminal 20p deletion mosaicism reported up to present.

Abnormalities, Multiple↗
PubMed2001

Autistic disorder and schizophrenia: diagnostic overlaps.

Data on 14 males with autism and 14 with schizophrenia were collected to examine symptom overlap. The Structured Clinical Interview (SCID), the schedule for positive symptoms (SAPS) and the schedule for negative symptoms (SANS) of schizophrenia, the Childhood Autism Rating Scale (CARS), and the DSM-III-R were administered. On the SCID, none of the men with paranoid schizophrenia met criteria for autism while 7 of those with autism met criteria for schizophrenia, disorganized type, showing negative symptoms. In addition, 5 showed positive symptoms on the SAPS and 6 negative symptoms on the SANS. As the difference in measured nonverbal intelligence was not significant, the effects could not be attributed to it. Although the findings continue to support the differentiation of autism and schizophrenia, they are also consistent with a comorbidity of the two disorders, mainly in those diagnosed with autism.

Adolescent↗
PubMed1996

Changing criteria of autistic disorders: a comparison of the ICD-10 research criteria and DSM-IV with DSM-III-R, CARS, and ABC.

Revised versions of diagnostic manuals, the International Classification of Diseases (ICD-10), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) all operate with several subgroups in the autistic spectrum. Five of the subgroups are identical in the two manuals, but ICD-10 contains five in addition. 132 children were diagnosed using ICD-10, DSM-IV, DSM-III-R, the Childhood Autism Rating Scale (CARS), and the Autistic Behavior Checklist (ABC). Five out of ten alternative subgroups of Pervasive Developmental Disorders (PDD) were identified in a population of developmentally impaired children. These subgroups were the same in the two manuals; the additional ones in ICD-10 were not identified. With the exception of the groups Disintegrative Disorder and Rett syndrome, significant differences were found between all the subgroups within the PDD spectrum and between the PDD group and the non-PDD group. Some problems connected with the guidelines in the ICD-10 manual are discussed.

Adolescent↗
PubMed2006

Hyperserotonemia in adults with autistic disorder.

Hyperserotonemia is the most consistent serotonin-related finding in autism. The basis of this phenomenon, and its relationship to the central serotonergic dysfunction remains unclear. Platelet serotonin level (PSL) in 53 autistic adults and 45 healthy controls was measured. Mean PSL in autistic group (75.7 +/- 37.4 ng/microL) was significantly higher than the control sample (59.2 +/- 16.2 ng/microL) due to a presence of hyperserotonemic subjects which comprised 32% of the patients. PSL of autistic subjects did not correlate with the severity of symptoms, as measured by total CARS score, or the degree of mental retardation. However, significant negative relationship was observed between PSL and speech development, indicating the relationship between the peripheral 5HT concentrations and verbal abilities in autistic subjects.

Adolescent↗
PubMed1997

Anterior cingulate gyrus volume and glucose metabolism in autistic disorder.

OBJECTIVE: This study reports the first paired measurements of glucose metabolism and volume of the anterior cingulate gyrus in autism. METHOD: Magnetic resonance imaging (MRI) and positron emission tomography (PET) scans of seven high-functioning autistic patients and seven sex- and age-matched normal volunteers were coregistered. After the anterior cingulate gyri were outlined on the MRI images, the volumes of the structures were measured and corrected for brain volume. The volumes were then applied to the PET images and metabolic maps were obtained. RESULTS: Right anterior cingulate area 24' was significantly smaller in relative volume, and both area 24 and area 24' were metabolically less active, in the autistic patients than in the normal subjects. CONCLUSIONS: Autism may be characterized by structural and functional alterations in the anterior cingulate gyrus.

Adolescent↗