Table 1 Patient demographics
Sex at birth | Age (y) | Ethnicity | Family Hx | |||
|---|---|---|---|---|---|---|
Male | 6 | White | No | |||
Gene | Variant | Classification | Zygosity | Chr. Position | Mode of Inheritance | Inherited From? |
SCN2A | c.3399 G>C p.E1133D | Likely pathogenic | Heterozygous | Chr2:g.166211181G>C | AD | De Novo |
Medical diagnoses | Psychiatric diagnoses | Medications | ||||
Cortical vision impairment (CVI), partial symptomatic epilepsy with complex partial seizures, sleep apnea, periodic limb movement disorder | Autism spectrum disorder (ASD), intellectual disability, adjustment disorder with other symptoms, mixed receptive-expressive language disorder, disruptive behavior disorder | Diazepam, levetiracetam, melatonin, pediatric multivitamin, valproate | ||||
Developmental level* | ||||||
Cognitive: 14 month-level | ||||||
Receptive Communication: 10 month-level | ||||||
Expressive Communication: 7 month-level (no spoken language) | ||||||
Fine Motor: 14 month-level | ||||||
Aberrant Behavior Checklist-Community (ABC-C [2]) | ||||||
Irritability: 11 of 45 MSP | ||||||
Lethargy/Social withdrawal:12 of 48 MSP | ||||||
Stereotypic behavior: 14 of 21 MSP | ||||||
Hyperactivity/noncompliance: 23 of 48 MSP | ||||||
Inappropriate speech: 2 of 12 MSP | ||||||