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Table 5 Comparison of results of clinical and neuropathological studies of idiopathic autism and dup(15) autism

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

Clinical and structural alterations Dup(15) autism Idiopathic autism
Autism prevalence and severity Clinical data 81 % of subjects met criteria for autism and 92 % for ASD [12, 14]. Autism diagnosed in 69 % of subjects [36] Mild 55 %; Moderate 30 %, Severe 15 % [84]
  Postmortem study Autism diagnosed in 89 % of children and young adults 100 %
Intellectual disability Clinical data 5/5 severe-moderate ID [85, 86] IQ < 70, 31 %; IQ 71–85, 23 %; IQ > 85, 46 % [84]
  Postmortem study Profound, ID in 67 %; severe & moderate ID in 33 % Moderate in 3 cases with tested IQ
Epilepsy Clinical data Epilepsy in 63 % [66] Epilepsy in 33 % [71]. Epileptiform activity in 31 % of autistic children without epilepsy [75]
  Postmortem study Epilepsy in 87 % including intractable epilepsy in 62 %. SUDEP in 87 % of cases Epilepsy in 50 % of subjects SUDEP in one case/eight (12 %)
Brain weight Postmortem study 1,215 g 1,611 g (1,376 g in control subjects)
Focal developmental defects [46] Heterotopias (alveus, CA4, DG) 89 % 10 % (p < 0.001)
DG dysplasia 89 % 10 % (p < 0.001)
Cerebral cortical dysplasia 0 % 50 % (p < 0.03)
Cerebellar heterotopias 56 % 60 % (ns)
Cerebellar flocculus dysplasia 75 % 50 % (ns)
Subependymal nodular dysplasia 22 % 10 % (ns)
Neuronal soma volume deficit (compared to control in Wegiel et al. [60] and current study) - In 14/16 (87 %) regions in 4 to 8 years old [60]
   11/25 (44 %) regions in 9 to 26 years old In 3/16 (19 %) regions in 11 to 23 years old [60]
   - In 4/16 (25 %) regions in 22 to 49 years old [60]