Pathogenesis (development of the disease)
The cause of autism/Asperger syndrome often remains unclear. Studies currently focus on the oxytocin receptor gene (OXTR) as a risk factor.
Etiology (Causes)
Biographic causes
- Genetic burden from parents, grandparents (52.4%).
- Genetic risk dependent on gene polymorphisms:
- Genes/SNPs (single nucleotide polymorphism; English : single nucleotide polymorphism):
- Genes: SLC25A12
- SNP: rs4307059 in an intergenic region [autism spectrum disorders (ASD)].
- Allele constellation: CT (1.19-fold).
- Allele constellation: TT (1.42-fold)
- SNP: rs2056202 in the gene SLC25A12 [autism spectrum disorders (ASD)].
- Allele constellation: CT (0.8-fold).
- Allele constellation: TT (0.64-fold)
- SNP: rs2292813 in the gene SLC25A12 [autism spectrum disorders (ASD)].
- Allele constellation: CT (0.75-fold).
- Allele constellation: TT (0.56-fold)
- SNP: rs10513025 in an intergenic region [autism spectrum disorders (ASD)].
- Allele constellation: CT (0.55-fold).
- Allele constellation: CC (> 0.55-fold)
- Genes/SNPs (single nucleotide polymorphism; English : single nucleotide polymorphism):
- Genetic diseases
- Kanner syndrome – chromosome 7, 15 (unclear inheritance).
- Asperger syndrome – chromosome 1, 3, 13 (unclear inheritance).
- Genetic risk dependent on gene polymorphisms:
- Age
- Maternal age at conception – increasing maternal age from 30 to 34 years of age to highest risk in mothers over 40 years of age.
- Age of father at conception > 40 years (5- to 6-fold higher risk for autistic traits than children born to fathers younger than 30 years of age
- Smoking maternal grandmother – risk increase of.
- 67% that granddaughters will develop typically autistic traits (impaired social communication or repetitive behaviors)
- > 50% that granddaughters develop Asperger’s syndrome (autism spectrum disorder, ASD).
- Migration status of parents (consensus-based statement).
- Socioeconomic factors
- Unemployment (despite high levels of education)
- Low socioeconomic status
Disease-related causes
Psyche – nervous system (F00-F99; G00-G99)
- Maternal alcohol abuse during pregnancy (excluded risk factor: this is associated with significant cognitive impairment, numerous organic malformations, and other behavioral abnormalities in the child; but not autism spectrum disorders)
- Early childhood brain damage
- Cerebellar hypoplasia – underdevelopment of the cerebellum.
Medications taken by the mother during pregnancy:
- Antidepressants?
- Misoprostol – active ingredient used for gastric ulcers.
- Thalidomide – sedative / sleeping pill, which became known through the so-called thalidomide scandal.
- Valproic acid / valproate – active substance used in epilepsy.
Environmental pollution – intoxications (poisonings).
- Air pollutants
- Prenatal exposure to polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs)Note: Polychlorinated biphenyls are among the endocrine disruptors (synonym: xenohormones) that, even in minute amounts, can damage health by altering the endocrine system.
Further
- Rubella vaccination in pregnancy (consensus-based statement).