Table 1 EEG, Genetic Testing and Neuropsychological results

Ambulatory EEG

3 years

Normal

Chromosome Analysis

3 years

Normal (46XX)

Microarray

3 years

Normal

Fragile X

3 years

Normal (29 and 32 CGG repeats)

MECP2 seq + del/dup

3 years

Normal

Trio WES

3 years

De novo missense variant in the KDM5C gene

(g.X-53239925 T > C; c.1516A > G; p.Met506Val; NM_004187.4)

Wechsler Preschool and Primary Scale of Intelligence - IV

2 years 8 months

Full Scale Intelligence Quotient (IQ) = 85 (Low Average range)

General Ability Index = 91 (Average range)

Vocabulary Acquisition Index = 75 (Borderline range)^a

Vineland 3

2 years 8 months

Adaptive Behavior Composite =70 (percentile rank = 2)

Communication Domain =72 (percentile rank =3)

• The communication domain is made up of two subdomains: Expressive and Receptive. The probands score was adequate for receptive and low for expressive domains. The probands receptive score is significantly higher than the expressive score.

Daily Living Skills Domain = 75 (percentile rank = 5))

Socialization Domain = 65 (percentile rank =1)

Motor Skills Domain = 55 (percentile rank < 1)

• The motor domain is made of two subdomains Gross and Fine Motor. The probands gross motor was moderately low and fine motor score was low. The gross motor was significantly higher than fine motor

Childhood Autism Rating Scales 2

2 years 8 months

Raw Score = 28.5 (Minimal to no symptoms of Autism Spectrum Disorder)