| Phenotype details |
birth 38w length 50.8 cm (+1.2 SD)birth 38w length 50.8 cm (+1.2 SD), weight 2.89 kg (-0.26 SD), OFC 33 cm (-0.31 SD); height 123.7 cm (+.82 SD), weight 22 kg (-0.06 SD), OFC 49.5 cm (-2.48 SD; Hypotonia, autism, severe ADHD with atypical reactions (crying) to medication High tolerance for pain (but not recurrent injuries) Staring spells when younger - had EEG that was negative. She doesn't have these as often and responds to stimuli.; MRI no abnormalities, incidental cystic change of the pineal gland noted, normal MRS (left basal ganglia); Motor: sitting up 5-6 months, standing with support 6-7 months and then stopped doing it, stopped progressing in gross motor area. Between 8-10 months, she refused to put her feet on the ground, some regression. Slow to progress to crawling, late to cross midline. Started PT around 10-11 months of age with Early Intervention. 12 months of age, private physical therapist. Crawling at 12-13 months of age. Walking at 18 months. Fine motor seemed behind around 1 year of age. Delayed pincer grasp. Language delayed in learning words and speaking sentences. Neurology eval at 15 months. Very social baby and child. Made good eye contact, smiles, responsive, loves being around people. Arm flapping. Low-average IQ.; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; Required SMOs for pronated ankles; no hearing loss, not formally evaluated, no concerns; normal vision; normal haematopoiesis, normal iImmune functioning; most hyperactive (driven by a motor) children I've seen |
