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Deviation of hormone formation within nerve cells and nerve system provides autism spectrum disorder and neurodevelopment retardation through interaction of steroids with neurotransmitter-receptors, calcium-channel receptors and genomic interaction via nuclear steroid receptors.
Urinary steroid metabolites will be compared between children with autism spectrum disorder and healthy controls.
Autism spectrum disorder presents many alterations in amino acid metabolism and in neurotransmitter systems (gamma amino acid system, glutamate-glutamine, nicotine-acid, serotonin-system) . Also alteration in gene activation within nerve cells and lymphocyte cultures encloses over 600 genes, affecting a wide field of enzymes , metabolic pathways and hormone formation. Male hormones and their precursors are often increased and their influence to nerve cell growth and spine formation is evident.
The diagnosis of autism spectrum disorder is made in accordance of criteria of the Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) of the American Psychiatric Association by an experienced and specialised paediatrician or psychologist and /or by an Autism Diagnostic Interview-Revised (ADI-R) or Autism Diagnostic Observation Schedule (ADOS) .
Overnight urine with measurement of quantity and time will be collected and a little part of the urinary samples will be frozen for storage till analysis. Age, weight and length of the children at collection time will be ascertained.
Four stratified groups (autistic boys, girls, and healthy controls, boys and girls, each age 5-15) will be formed.
Urinary samples will further remain anonymous through an Identification-Number (ID).
Analysis of hormones and the most of the known metabolites excreted in urine will be performed by a specialised laboratory using gas chromatography-mass spectrometry (GC/MS) analysis (University Hospital Bern, Steroid Laboratory, Switzerland).
The statistical analysis, with age, gender, weight, diagnosis and hormone analysis results as factors , consists in linear regression analysis to detect deviation in hormone formation and metabolism.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| autistic boys | Boys with autism spectrum disorder, age 5-15 years, diagnosis meets DSM-IV criteria ascertained by ADI-R or ADOS schedule or specialised paediatrician | ||
| autistic girls | Girls with autism spectrum disorder, age 5-15 years, diagnosis meets DSM-IV criteria ascertained by ADI-R or ADOS schedule or specialised paediatrician. | ||
| control boys | Healthy boys, age 5-15 years, mental status assessed by "Marburger Beurteilungsskala zum Asperger-Syndrome" (MBAS). | ||
| control girls | Healthy girls, age 5-15 years, mental status assessed by "Marburger Beurteilungsskala zum Asperger Syndrome" (MBAS). |
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| Measure | Description | Time Frame |
|---|---|---|
| difference in hormone formation and androgen precursors | Calculation of hormone formation by comparison of urinary steroid metabolites | 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| difference in hormone formation in gender and age | Hormone formation depends on age and gender and will be calculated by comparison of urinary steroid metabolites | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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Children , age 5-15 years with autism and autism spectrum disorder resident in Austria without other severe or psychiatric disorders.
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| Name | Affiliation | Role |
|---|---|---|
| Johann Kurz, MD | Intersci Research Association, Austria | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Intersci Research Association | Leibnitz, Styria | Styria | 8430 | Austria |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 19492049 | Background | Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA, Soldin SJ, Luu T, Lee NH. Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One. 2009 Jun 3;4(6):e5775. doi: 10.1371/journal.pone.0005775. | |
| 19418574 | Background |
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| Type | Date | Date Unknown |
|---|---|---|
| Release | Aug 5, 2019 | |
| Reset | Sep 16, 2019 | |
| Release | Nov 5, 2019 | |
| Reset | Nov 22, 2019 |
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| Release Date | Unrelease Date | Unrelease Date Unknown | Reset Date | MCP Release Number |
|---|---|---|---|---|
| Aug 5, 2019 | Sep 16, 2019 | |||
| Nov 5, 2019 |
| ID | Term |
|---|---|
| D001321 | Autistic Disorder |
| D000067877 | Autism Spectrum Disorder |
| ID | Term |
|---|---|
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
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noninvasive overnight urine (morning urine)
| Hu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, Steinberg ME, Luu T, Lai Y, Lee NH. Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res. 2009 Apr;2(2):78-97. doi: 10.1002/aur.73. |
| 11706102 | Background | Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology. 2001 Nov 13;57(9):1618-28. doi: 10.1212/wnl.57.9.1618. |
| 17984958 | Background | Geier DA, Geier MR. A prospective assessment of androgen levels in patients with autistic spectrum disorders: biochemical underpinnings and suggested therapies. Neuro Endocrinol Lett. 2007 Oct;28(5):565-73. |
| Nov 22, 2019 |