By S. Deutsch, et al.
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Additional info for Autism Spectrum Disorders - The Role of Genetics in Diagnosis, Trtmt
However, almost all of these symptoms were reported significantly less in children diagnosed with PDD-NOS than children with autism. The autism and the PDD-NOS shared a common clinical symptom profile on the first clinical admission. On the other hand, the children with ADHD had a distinct set of symptoms. The results suggest that PDD-NOS may be assumed as a quantitative partial subtype of autism, and it represents a less severe form that lies on a continuum of social-communication skills. 20 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment Preliminary PDD-NOS Symptom Screening Scale (PPSSS) Items Presence of the symptoms (percentages) PDDNOS (1) Overall Autism ADHD significan (2) (3) ce (p value) Source of significance 1.
This gene is expressed particularly in neurons and to a lesser extent in glial cells, and involved in neuronal maturation in the postnatal period. MECP2 is involved in the expression of the gene that codes for brain derived neurotrophic factor (BDNF), which is essential for neuronal maturation and plasticity. The pathophysiology of RS thus lies conceivably in a MECP2–mediated disturbance in the regulation of BDNF. , 2009). 38 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment RS is one of the better examples of an autism-related disorder with a proven genetic pathophysiology.
The research findings make it clear, however, that the pathophysiology of autism involves genes that code for proteins from the family of neurexins and neuroligins that play, in turn, a role in the development and functioning of synaptic and in particular glutamatergic and GABA-ergic networks (Lisé & El-Husseini, 2006; Buchsbaum, 2009). , 2003). 34 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment When the classic microscopic cytogenetic route is followed, structural chromosomal aberrations are found in 3% to 7% of patients with autism and developmental delay.
Autism Spectrum Disorders - The Role of Genetics in Diagnosis, Trtmt by S. Deutsch, et al.