| ADHD | Attention deficit hyperactivity disorder |
| ADOS | Autism Diagnostic Observation Schedule |
| AGE | Glycation end products |
| ASD | Autism spectrum disorder |
| BA10 | Brodmann area 10 |
| CARS | Childhood Autism Rating Scale |
| CGH | Comprehensive genomic hybridization |
| CNV | Copy number variant |
| CSF | Cerebrospinal fluid |
| CVD | Cardiovascular diseases |
| DD | Developmental delay |
| ERP | Event-related potentials |
| GI | Gastrointestinal |
| T2DM | Diabetes mellitus type 2 |
| DSM-5 | Diagnostic and statistical manual of mental disorders- 5 |
| DZ | Dizygotic |
| fcMRI | Functional connectivity magnetic resonance imaging |
| FXS | Fragile X syndrome |
| GC | Gas chromatography |
| GWAS | Genome wide association studies |
| iASD | Idiopathic Autism spectrum disorder |
| ICD-10 | International Classification of Disease 10 |
| LC | Liquid chromatography |
| MALDI-TOF | Matrix-Assisted Laser Desorption Ionization Time-of-Flight |
| miRNA | microRNA |
| MS | Mass spectrometry |
| mtDNA | mitochondrial DNA |
| MZ | Monozygotic |
| ncRNA | non-coding RNA |
| NGS | Next generation sequencing |
| NDR | Neurodevelopmental regression |
| PDD-NOS | Pervasive developmental disorder not otherwise specified |
| PTM | Post-translational modifications |
| rRNA | Ribosomal RNA |
| RT-PCR | Reverse transcriptase-polymerase chain reaction |
| snoRNA | Small nucleolar RNA |
| snRNA | Small nuclear RNA |
| SNV | Single nucleotide variant |
| SV | Structural variants |
| TD | Typically developed |
| TLDA | TaqMan low-density array |
| TSC | Tuberous sclerosis complex |
| WES | Whole-exome sequencing |
| WGS | Whole-genome sequencing |