Table 2 Timescale of DGDP005’s medical evaluations as well as her clinical features

<5 years

Pediatrician

- Crawling, sitting, walking and attaining language milestones delayed

- Craniofacial anomalies including macrocephaly

- Problematic motor skills.

~10 years

Developmental pediatrician

- Special education implemented in curriculum

- Difficulty falling asleep and treatment with melatonin

- ADHD

- Hypertonia.

- Possible sensory motor difficulties.

14 years

Standford Binet Intelligence Scales-Fifth edition (SB5)

- Difficulty staying on the task and needed to be redirected from time to time

- Overall thinking and reasoning at ~13 percentile.

- Borderline nonverbal reasoning abilities

- Verbal reasoning at ~12 percentile

- Verbal and nonverbal problem solving at ~ 58 percentile

- Ability to gather information at ~ 18 percentile

- Numerical problem solving at ~7 percentile.

- Borderline visual display abilities

- Ability to maintain attention at ~13 percentile.

- Full scale quotient of 83 (95 % confidence interval 79–87) suggesting intellectual disability.

16 years

Individualized education program review team

- OHT

-ADHD

- Language disability in written language expression

- Disability in math calculation and reasoning

- Difficulties in fine graph motor functions with soft neurological signs.

- Continues to be a student with disability

18 years

Child neurology services

- Developmental encephalopathy

- Cognitive impairment

- OCD as well as ADHD

-Treatment with fluoxetine (aka Prozac10 mg) and Adderall (15 mg)

- More pronounced facial dysmorphisms including prominent forehead, low-set ears, narrow nose thin lips

22 years

Admitted to emergency

- Diagnosed with intraventricular hemorrhage with layering in the posterior fossa.

- Right anterior communicating artery aneurysm

- Developmental delay, OCD and ADHD