Table 1 15q13.2q13.3 microdeletions
Patient 1Patient 2Patient 3Patient 4Patient 5
Genetics
CohortCHBCHBCHBCHBCHB
Referring diagnosisPDD-NOSLanguage delayAutistic spectrumMental retardationDevelopmental language disorder
Deletion size1.69 Mb1.93 Mb1.70 Mb1.50 Mb1.63 Mb
Coordinates (hg18)28719136–3040567528719136–3064891828709202–3040567528719136–3029815528606757–30232544
OriginMaternalMaternalUnknown (adopted)Unknown (father not available)Unknown (father not available)
LCR involvedBP4–BP5BP4–BP5BP4–BP5BP4–BP5BP4–BP5
Age, gender8 years 11 months, male3 years 10 months, female10 years 9 months, male20 years 9 months, male5 years 11 months, male
Cognitive/behavioural development
Developmental delayYesYesYesYesYes
Mental retardationNoNoNoYesNo
ASDYes, PDD-NOSNoNoYes, PDD-NOSAutistic features
Attention problems/ADHDYesYesYes, ADHDYes, ADHDYes
TestingDAS: verbal = 97 (42nd centile); non-verbal  = 69 (2nd centile)WPPSI-III FSIQ = 91; ADOS score 3/25WISC-IV: verbal 93 (32nd centile); working memory 77 (6th centile); FSIQ = 86 (18th centile)Bayley FSIQ below 50WPPSI-III: verbal 72 (3rd centile); perceptual reasoning 75 (5th centile)
Receptive languageGenerally age appropriateSeverely impairedMildly impairedImpaired (follows simple commands)Below average
Expressive languageImpaired, but more NVLDSeverely impairedMildly impairedSeverely impairedBelow average
Written languageImpairedN/AAge appropriateImpairedDelayed
Repetitive behaviourYesNoNoYesYes; hand flapping
Poor eye contactYes; variableYesYesYesYes; variable
Social interactionsImpairedN/AImpairedImpairedImpaired
Self stimulatory behavioursYesNoNoYesNo
Self injurious behavioursYesUnknownUnknownYesNo
Behavioural issuesYesYesYesYesYes
Age at walking15 months20 months18 months24 months18 months
History of seizuresNoNoNoNoNo
EEGAbnormalNormalNormalMildly abnormalNot done
MRINot doneFocal cortical dysplasiaNot doneNormalNot done
  • ADHD, attention deficit hyperactivity disorder; ADOS, Autism Diagnostic Observational Schedule; ASD, autism spectrum disorder; Bayley, Bayley Scales of Infant Development; BP, breakpoint; CHB, Children’s Hospital Boston; DAS, Differential Ability Scale; EEG, electroencephalogram; FSIQ, Full Scale Intelligence Quotient; GARS, Gilliam Autism Rating Scale; LCR, low copy repeat; MRI, magnetic resonance imaging; N/A, not available; NVLD, non-verbal learning disability; PDD-NOS, pervasive developmental disorder not otherwise specified (based on DSM-IV criteria); WASI, Wechsler Abbreviated Scale of Intelligence; WISC-IV, Wechsler Intelligence Scale for Children-IV; WPPSI-III, Wechsler Preschool and Primary Scale of Intelligence-III.