chaudhry_17_ASD/ADHD/DD_discovery_cases-case1

  Chaudhry A , et al. 2017

 13.5 yrs.

 F

 ASD, ADHD, motor delay, and learning disability

 Case diagnosed with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) at 10 years of age. Birth/neonatal history: fetal ultrasound at 33 weeks gestation showed agenesis of the corpus callosum with cerebral ventriculomegaly (confirmed by fetal MRI at 34 weeks gestation); born at 40 weeks via vaginal delivery, uneventful postnatal course (discharged at 48 hr of life); hospitalized at 3 months of age for chest infection and was found to have positional plagiocephaly with the left occiput being more prominent than the right. Developmental milestones: developmental difficulties noted in early childhood mainly involving the motor domain; fine motor delay; difficulty catching smaller objects and inability to pedal or balance on one foot noted at 3.5 years. Language and communication evaluation: normal speech and language skills on formal testing, but language skills broke down in social language situations; delayed play skills and preference for solitary play and one-to-one adult interaction. Motor and musculoskeletal evaluation: mild difficulties with gross motor skills and fine motor skills at 4 years of age (age-appropriate visual motor integration but motor planning difficulties); long fingers, subluxation of 1st metacarpophalangeal joint, bilateral 5th finger clinodactyly, left-sided sandal gap, partial 2nd and 3rd toe syndactyly, mild lordosis, and thoracic scoliosis convex to the right side noted at 13.5 years of age. Behavioral/psychiatric evaluation: referred to psychiatry for assessment due to increasing aggressive and impulsive behavior, especially towards younger siblings. Ophthalmological evaluation: initiation eye examination was normal; repeat eye examination following the finding of ZEB1 gene deletion confirmed diagnosis of posterior polymorphous corneal dystrophy (PPCD). Additional medical history: recurrent urinary tract infections and bilateral vesicoureteric reflux observed in second to third years of life; small umbilical hernia noted at 5 years of age. Dysmorphic features: puffy eyelids, epicanthic folds, and bulbous nose noted at 3 months of age; high forehead, frontal bossing, hypertelorism, prominent eyes, droopy eyelids, and squared-shaped nose noted at 3.5 years; high forehead, frontal bossing, facial asymmetry, mild ptosis, hypertelorism, widely spaced teeth, prognathism, and low-set ears noted at 5 years; high forehead, frontal bossing, coarse facial features, prominent supraorbital ridges, deep set eyes, droopy eyelids, hypertelorism, flat nasal bridge, anteverted nostrils, malar hypoplasia, full lips, and prominent square shaped chin noted at 13.5 years of age. Growth parameters: height of 109.5 cm (97th %ile), weight of 23 kg (> 97th %ile), and head circumference of 51.5 cm (50th-98th %ile) at 5 years of age; height of 160 cm (50th-75th %ile) and head circumference of 55.4 cm (+1.5 SD) at 13.5 years of age. Family history: born to 22-year-old primigravida mother of French Canadian origin and 28-year old father of Italian descent (parents were healthy and non-consanguineous).

 Case diagnosed with learning disability at 10 years of age. Assessment at age of 5 years demonstrated that this case appeared to be functioning at least 1 year behind chronological age.

 30533471

 32583222

  2049752

 GRCh38

 Deletion

 Yes

  marshall_08_ASD_discovery_cases-MM1086-004

  Marshall CR , et al. 2008

 NA

 M

 ASD

 NA

 NA

 30927183

 31275574

  348392

 GRCh38

 Deletion

 Yes