Skip to main content

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