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Page 10 of 21 Persico et al. Rare Dis Orphan Drugs J 2023;2:xx https://dx.doi.org/10.20517/rdodj.2023.08

Table 4. Demographic and clinical characteristics of the sample (n = 33)
Characteristics n Mean ± S.E.M. (range) or %
Age in yrs 33 11.87 ± 0.33 (3-37)
● 0-9 yrs 19 57.6%
● 10-18 yrs 9 27.3%
● ≥ 19 yrs 5 15.2%

Sex
● M 17 51.5%
● F 16 48.5%
● M : F ratio 1.06 : 1
Genetics features:
● chr 22q13.3 deletion 26 78.8%
● SHANK3 mutation 4 12.1%
● ● Ring chromosome 22 3 9.1%
● ● Mosaicism 2 6.1%

DSM-5 Diagnosis: 32 97.0%
● Global Developmental Delay (GDD) or Intellectual Disability (ID) 19 57.6%
● GDD or ID + Autism Spectrum Disorder 13 39.4%
IQ : †
● > 70 3 9.1%
● < 70 30 90.9%

‡
CGI-Severity score :
● Borderline ill 2 6.1%
● Mildly ill 1 3.0%
● Moderately ill 11 33.3%
● Markedly ill 14 42.4%
● Severely ill 5 15.2%
Behavioral regression history:
● Present 10 30.3%
● Absent 23 69.7%
Bipolar Disorder:
● Present 7 21.2%
● Absent 26 78.8%

Epilepsy:
● Frequent 1 3.0%
● Rare 5 15.2%
● Absent 27 81.8%
Developmental Coordination Disorder:
● Gross-motor skills 33 100.0%
● Fine-motor skills 30 90.9%
Expressive language (single words):
● Normal development (< 18 mo) 2 6.1%
● Developmental delay (> 18 mo) 11 33.3%
● Lost after normal development 1 3.0%
● Lost after developmental delay 3 9.1%
● Never acquired 16 48.5%
§
Mean VABS scores (Adaptive skills) :
● Communication 33 41.8 ± 3.1 (19-72)
● Daily living skills 33 49.0 ± 3.1 (21-81)
● Socialization 33 52.4 ± 2.8 (20-79)
● Motor skills 10 58.2 ± 3.1 (37-72)