| Phenotype details |
see paper; ..., maternal shingles, prenatal testing showed increased risk for Down syndrome, bilateral club feet identified on prenatal ultrasound; birth 39w; neonatal period normal; birth length 45.7cm (<P1, -3.0 SD), weight 2608g (P2, -2.0 SD); length 152cm (P8, -1.4 SD), weight 40.4kg (P10, -1.3 SD), OFC normal; global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; behavioral regression, some developmental regression with shoe tying; no microcephaly; ADHD, oppositional defiant disorder, anxiety; no autism; 6m-sit; 18m-walk; very early social smile; 6m-first words; 4y-focal seizure; 13y-mildly abnormal EEG in wakefulness through slow wave sleep due to diffuse excessive beta which is a non specific finding which may be seen in the setting of certain medications, such as benzodiazepines as this child is on. aEEG age 12y: This is an abnormal ambulatory EEG in the awake and asleep states due to abundant focal sharp waves occurring independently in the right great than left centrotemporal regions, increasing during sleep and reaching a spike wave index of 80%. In the correct clinical context this EEG is consistent with ESES (electrographic status epilepticus of sleep). rEEG age 12y : This is an abnormal routine EEG in the awake and drowsy states due to: 1) Frequent focal sharp-waves in the right centrotemporal region; 2) Rare focal sharp-waves in the left centrotemporal region. rEEG age 12y: A previous EEG report is abnormal in the awake and drowsy state due to frequent independent multifocal spike wave discharges, potentiated in drowsiness. 3 day EEG age 12y: This concludes 3 days of LTM monitoring, during which time no seizures or patient events were recorded. The EEG demonstrated frequency bilateral independent central/centro-temporal sharp and slow wave discharges with a high burden of epileptiform activity during sleep, potentially consistent with ESES in the appropriate clinical setting; 12y-MRI brain left middle cranial fossa encephalocele; delayed coordination for age, instability on heel to toe walk, and mildly impaired balance; inverted nipples; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; myopia, astigmatism; no nystagmus; normal cardiovascular system; normal spine morphology; Short stature, clubfoot, mildly poor balance, poor hand eye coordination, instablity on heel to toe walk |
