Table 2 Summary and comparison of main developmental milestones and epilepsy data in males and females with IQSEC2 variants
From: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Developmental milestones and epilepsy | ||||
|---|---|---|---|---|
Males | Females | All | p value, test | |
Number of patients with IQSEC2 pathogenic variants | 22 | 20 | 42 | |
Mean/median age at the study in years | 10.2/10.7 | 13/11 | 11.6 / 11.0 | |
Motor milestones | ||||
Age at sitting unsupported in months: mean/median age (number) | 20.2/17.5 (n = 16) | 10.2/9.75 (n = 12) | 15.9 / 12.3 (n = 28) | p = 0.0015, Wilcoxon–Mann–Whitney test |
Age at walking unsupported in months: mean/median age (number) | 30.3/28.3 (n = 6) | 24.5/23 (n = 15) | ||
Unable to walk unsupported | 16 | 1 | 17 | p = 4.9E-5, Fisher's exact test |
Language development (age >3 years) | ||||
Age at first words in years: mean/median age (number) | NA (n = 2) | 1.2/1.05 (n = 8) | ||
Nonverbal patients | 20/22 | 4/19 | 24 | p = 6.2E-6, Fisher's exact test |
Speaks several words | 0 | 7 | 7 | |
Associates words | 2 | 3 | 5 | |
Builds sentences | 0 | 5 | 5 | |
Use of hands (number) | ||||
Purposeful use of hands | 10/21 | 14/17 | 24 | p = 0.043, Fisher's exact test |
Absent use of hands | 7/21 | 1/17 | 8 | p = 0.053, Fisher's exact test |
Hand stereotypies | 15/21 | 8/17 | 23 | p = 0.18, Fisher's exact test |
Severity of intellectual disability (number) | ||||
Mild | 0 | 2 | 2 | |
Mild–moderate | 0 | 1 | 1 | |
Moderate | 0 | 3 | 3 | |
Moderate–severe | 0 | 3 | 3 | |
Severe | 12 | 8 | 20 | |
Severe–profound | 2 | 0 | 2 | |
Profound | 8 | 0 | 8 | |
Behavior (number) | ||||
Behavioral disturbances | 16 | 13 | 29 | |
Autistic behaviors | 12 | 8 | 20 | |
Self-injurious behaviors | 4 | 4 | 8 | |
Epilepsy | ||||
Patients with epilepsy (number) | 21 | 14 | 35 | p = 0.04, Fisher's exact test |
Seizure onset: mean median age (number) | 23.9/23.5 (n = 20) | 66.4/36 (n = 13) | 40.6 / 34 (n = 33) | p = 0.1, Wilcoxon–Mann–Whitney test |
Seizure types (number) | ||||
Documented for: number | 19 | 13 | 32 | |
Atypical absences | 11 | 6 | 17 | p = 0.72, Fisher's exact test |
Generalized tonic–clonic seizures | 7 | 6 | 13 | p = 0.72, Fisher's exact test |
Tonic seizures | 8 | 4 | 12 | p = 0.71, Fisher's exact test |
Atonic seizures | 11 | 0 | 11 | p = 0.0006, Fisher's exact test |
Myoclonic seizures | 9 | 1 | 10 | p = 0.023, Fisher's exact test |
Infantile spasms | 8 | 1 | 9 | p = 0.049, Fisher's exact test |
Clonic | 2 | 2 | 4 | |
Dyscognitive | 1 | 3 | 4 | |
Resistance to AETs | 13/16 | 2/11 | p = 0.002, Fisher's exact test | |
