Table 4.
A comprehensive summary of included studies in this systematic review.
| Reference | NRXN1 Isoform Effected |
Other Molecular Findings |
Parental Consanguinity |
Family History | Developmental Delay |
Intellectual Disability | Seizures | EEG | Motor Abnormalities (Movement, Speech) |
Sensory abnormalities (Hearing, Vision) |
Behavioral Abnormalities |
Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Calderoni et al. [79], 2020. Case 1 |
NR | NR | NR | NR | NR | Normal IQ (>70) | NR | NR | Verbal/non-verbal | none | none | n/a |
| Calderoni et al. [79], 2020. Case 2 |
NR | duplication at Xp22.33 | NR | NR | NR | Low IQ (<70) | NR | NR | none | none | none | n/a |
| Alfieri et al. [78], 2020. Case 1 | NR | None | NR | NR | NR | Below average on TDQ (30) | - | - | Hypotonia, no speech | none | Tantrums, aggression, self-injurious behavior | Trichotillomania, teeth grinding |
| Alfieri et al. [78], 2020. Case 2 | NR | None | NR | NR | NR | Below average TDQ (44) | - | - | Chewing difficulties only babbles | none | none | Smoking and medication exposure in utero |
| Alfieri et al. [78], 2020. Case 3 | NR | None | NR | NR | NR | Below average NVIQ (74) | + | - | Motor dysregulation | none | Attention problems | Multiple ear infections |
| Alfieri et al. [78], 2020. Case 4 | NR | None | NR | NR | NR | Below average FSIQ (50) | - | - | none | none | Paranoid ideation, aggressive behavior | allergies, sIgA deficiency, recurrent respiratory infections |
| Alfieri et al. [78], 2020. Case 5 | NR | None | NR | NR | NR | Below average NVIQ (72) | n/a | n/a | none | soliloquy | Shy, withdrawing, avoidant behavior | IUGR, sleep problems |
| Zarrei et al. [84], 2019 | NR | AK12724 | NR | NR | NR | NR | NR | NR | NR | NR | NR | NR |
| Cooke et al. [27], 2022 | Alpha, beta, theta | n/a | n/a | ASD, ADHD, anxiety, depression | yes | Below average to average | no | yes | Eye movements/gaze patterns | no | Repetitive and restrictive behaviors | n/a |
| Cosemans et al. [76], 2020 | beta | n/a | n/a | ASD, psychiatric problems, intellectual disability, IQ | yes | yes | no | no | Repetitive movements | no | Anxiety behaviors | n/a |
| Shehhi et. Al. [60], 2019 | Alpha and beta | n/a | n/a | Congenital heart disease, global development delay, epilepsy, intellectual disability, speech delay | yes | yes | Hallucinations, yes in some cases | yes | Gross motor delay | Sensorineural hearing loss | Speech and language delay, learning disability—32/34 had speech delay | n/a |
| Annunziata et al. [81], 2023 | n/a | Maternal inheritance in ⅘ subjects; incomplete penetrance | n/a | n/a | Developmental delay | Intellectual disability | n/a | Epileptiform discharge while sleeping or falling asleep | n/a | n/a | n/a | n/a |
| Williams et al. [83], 2019 | Alpha | Paternal inheritance of miR-873-5p variant; maternal inheritance of NRXN1 loss of function | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
| Leblond et al. [36], 2019 | alpha | none | yes | NR | NR | Intellectual disability | no | NR | NR | NR | NR | Congenital torticollis and dental carries |
| Uzunhan et al. [80], 2022 | NR | alpha | yes | no | NR | NR | No | NR | Yes | NR | Yes | Macrocephaly, frontal bossing, bitemporal narrowing, wide forehead, long face, thin upper lip |
| Cameli et al. [82], 2021 | NR | Other rare variants found unspecified | NR | Maternal history of mutation—no family history of ASD | Yes | NR | NR | Predominance of a slow background activity in the R temporal region | Yes, delayed with motor stereotypies (hand flapping); limited speech (four words) | Yes, manipulating materials for visual, acoustic, tactile stimulation | Yes—hyperactivity, short attention span | |
| Ishizuka et al. [77], 2020 | Alpha | NR | NR | Maternally inherited | NR | Yes, No | NR | NR | NR | NR | NR | [ODD (oppositional defiant disorder)], [Depression, ADHD] |
NR: not recorded.