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Table 2 Psychiatric and neurological assessment

From: Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications

Group Case# Psychiatric disorders, neurological symptoms Cognitive assessment Seizures (age of onset) Diagnosis of autism
Dup(15) autism AN14762 Regression in infancy. Hypotonia. Abnormal response to pain and heat Profound ID (DQ < 20) Infantile spasms Intractable epilepsy (10 m) Autism (ADOS-G)
AN06365 Severe regression at age of 15 months. Hypotonia Profound ID Intractable epilepsy (8 m) Autism (ADI-R)
(DQ = 22)
AN09402 Regression in infancy. Severe hypotonia Profound ID Intractable epilepsy (10 m) VNS PDD-NOS
(DQ < 20)
AN07740 Delay of motor skills. Moderate spastic quadriparesis. Abnormal response to pain and heat Severe ID Seizures (11 y) Autism (ADI-R)
(DQ = 31)
AN09470 Hyperactivity (—) No record Autism (ADI-R)
AN07993 (—) (—) Epilepsy (9 y) Autism (ADI-R)
AN05983 Abnormal gait Profound ID Intractable epilepsy (7 y). VNS. Callosotomy Autism (ADI-R)
(DQ < 20)
AN14829 Obsessive compulsive behavior Moderate ID Epilepsy (16 y) Autism (ADI-R)
(IQ = 36)
Idiopathic autism HSB4640 Self-stimulatory behavior (—) Epilepsy (8 y) Atypical autism (ADI-R)
AN01293 Hypotonia Moderate ID No record Autism (ADI-R)
AN02736 Hypotonia. Sleep disorder Moderate ID Epilepsy (2 y) Autism (ADI-R)
AN01570 (—) (—) Epilepsy (8 y) Autism (ADI-R)
IBR93-01 Hyperactivity. Aggression. Sleep disorder Moderate ID Seizure (23 y) Autism (ADI-R)
(IQ = 36)
AN08166 Bipolar disorder (—) Epilepsy Autism (ADI-R)
NP06-54 No record (—) No record Autism (ADI-R)
AN06420 Impulsivity. Aggression (—) No record Autism (ADI-R)
  1. Dup(15) chromosome 15q11.2-13.1 duplication syndrome, ID intellectual disability, DQ development quotient, ADOS-G Autism Diagnostic Observation Schedule–Generic, ADI-R Autism Diagnostic Interview-Revised, VNS vagus nerve stimulator