Table 2 Mitochondrial DNA deletion status and clinical data of children with ASD and mtDNA deletion
Family history | Associated diseases | Minor anomalies | Symptoms beside ASD | Laboratory results | mtDNA (HP) |
|---|---|---|---|---|---|
MS + FS: intellectual disability, epilepsy | Chronic otitis | + | Hypoacusis, orofacial dyspraxia, intellectual disability, limb ataxia, tremor | Lactate level: 3.6 mmol/l (norm: ≤ 1.6 mmol/l), low testosterone levels, high LDH level, normal CK | Multiple (> 20%) |
MS: autoimmune hypothyreosis | Gluten sensitivity | + | Attention deficit, intellectual disability, Slight macrocephaly, constipation | Lactate level: 0.6 mmol/l (norm: ≤ 1.6 mmol/l), elevated lactate/pyruvate ratio, normal CK and LDH levels | Major deletion (80%) |
MS: epilepsy FS: anxiety | Tooth problems | + | Multiple congenital anomalies, coloboma, visual problems, hypotonic muscles, truncal ataxia, breathing difficulties | Lactate level: 1.9 mmol/l (norm: ≤ 1.6 mmol/l). elevated progesterone level, high LDH levels, low insulin levels | Major deletion (20%) |
Mother: panic syndrome | Gastro-oesophageal reflux | + | Postnatal growth deficiency, failure to thrive, intellectual disability | Lactate level: 1.3 mmol/l (norm: ≤ 1.6 mmol/l) | Major deletion (65%) |
Negative | Atopic dermatitis | − | No | Lactate levelel: 0.9 mmol/l (norm: ≤ 1.6 mmol/l) | Major deletion (35%) |
Previous foetus: aborted, FS: hydrocephalus, anal atresia, MS: depression, anxiety, ptosis, OCD, carcinoma | Neonatal jaundice, strabismus | + | Microcephaly, visual problems, hypotonic muscles | Lactate level: 2.3 mmol/l (norm: ≤ 1.6 mmol/l), elevated LDH levels, normal CK level | Major deletion (20%) |
Negative | No | + | Mild truncal ataxia | Lactate level: 1.2 mmol/l (norm: ≤ 1.6 mmol/l) | Major deletion (85%) |
MS: bipolar disorder (3 relatives), suspected thyroid problems | Atopic dermatitis, CMV, hepatitis | + | Sensorineural hearing loss, mild myopathy, ptosis | Lactate level: 1.5 mmol/l (norm: ≤ 1.6 mmol/l), elevated LDH, norm CK level. High anti-CMV antibody titer after birth, elevated liver enzymes | Major deletion (85%) |
MS + FS: PD, AD, intellectual disability; FS: suspicion of ASD | No | + | Mild truncal ataxia, calf hypertrophy | Lactate level: 1.5 mmol/l (norm: ≤ 1.6 mmol/l). Elevated lactate/pyruvate ratio, normal CK and LDH level | Major deletion (90%) |
Negative | No | + | No | Lactate level: 1.2 mmol/l (norm: ≤ 1.6 mmol/l) | Multiple (> 20%) |