napoli_17_ASD_discovery_cases

  Napoli E , et al. 2017

 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy

 133

 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r

 Mean, 6.7 3.0 years

 84.96% Male

 327000

 0

 1

 1

 roberts_13_ASD/DD/ID_discovery_cases

  Roberts JL , et al. 2013

 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012

 215

 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)

 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.

 65.12% Male

 703000

 0

 1

 1

 rosenfeld_10_ASD_discovery_cases

  Rosenfeld JA , et al. 2010

 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

 1461

 ASD

 

 

 704979

 0

 2

 2

 stobbe_13_ASD_discovery_cases

  Stobbe G , et al. 2013

 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012

 36

 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.

 Range, 18-45 yrs. (mean 25.3 yrs.)

 77.78% Male

 342480

 0

 1

 1

 tropeano_16_ASD/NDD_replication_cases

  Tropeano M , et al. 2016

 Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)

 18857

 Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.

 N/A

 BBGRE cohort, 67% Male; Hospit

 799473

 3

 38

 41

 tropeano_16_ASD_discovery_cases

  Tropeano M , et al. 2016

 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)

 90

 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.

 Adult age (20 yrs.+)

 N/A

 88845

 0

 1

 1

 tropeano_16_ASD/NDD_replication_controls

 Population-based controls, including 11589 individuals whose microarray data analyzed at the Centre for Applied Genetics (TCAG, Toronto, Canada) and 1005 controls from Population Diagnostics (PDx, Melville, USA)

 12594

 Control

 N/A

 45.09% Male

 758511

 2

 9

 11