This study compares DSM-IV symptoms in children (ages 6 to 12 years) with pervasive developmental disorder (PDD), clinic controls, and community-based samples. Parents/teachers completed the Child Symptom Inventory-4 for four samples: PDD (N = 284/284) and non-PDD psychiatric clinic referrals (N = 189/181) and pupils in regular (N = 385/404) and special (N = 61/60) education classes. The PDD group received higher symptom severity ratings than the regular education group, but was similar to the non-PDD clinic sample. Screening prevalence rates were highest for ADHD, ODD, and generalized anxiety disorder. PDD subtypes exhibited differentially higher rates of psychiatric symptoms. The magnitude of rater and gender differences in symptom severity ratings was modest. Clinic-referred children with PDD exhibit a pattern of psychiatric symptoms highly similar to nonPDD clinic referrals. Although much additional research is needed on comorbidity, these symptoms have important treatment implications.

Preschoolers with PDD exhibit more severe DSM-IV psychiatric symptoms than children in regular and special early childhood programs, and to some extent nonPDD psychiatric referrals. The concept of comorbidity warrants further exploration, as does informant-specific syndromes as validators of diagnostic constructs.

Anxiety appears to be a clinically important concern in many children with PDD. Similarities in anxiety symptom presentation and their association with psychotic symptoms in both children with and without PDD support the possibility of: (1) psychiatric comorbidity in the former; (2) at least some overlap in causal mechanisms for anxiety and psychotic symptoms in both PDD and non-PDD children; and (3) a unique diagnostic entity comprised of PDD, anxiety, and psychotic symptoms. Lastly, clinicians should seriously consider dual diagnoses in children with PDD.

Findings support the notion that ADHD may be a clinically meaningful syndrome in children with PDD.

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Background: Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken. Methods and results: Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three subjects: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4). Conclusion: CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.Autism spectrum disorder (ASD) (Online Mendelian Inheritance in Man (OMIM) 209850) is a severe developmental disorder of the central nervous system characterised by impairments in three behavioural areas: (1) social interaction; (2) verbal and non-verbal communication; and (3) range of interests, activities and patterns of behaviour.

This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum disorders and 8 typically developing children were compared on (1)H-magnetic resonance spectroscopy data collected from hippocampus-amygdala and cerebellar regions. The autism spectrum disorder group had significantly lower N-acetyl-aspartate/creatine ratios bilaterally in the hippocampus-amygdala but not cerebellum, whereas myo-inositol/creatine was significantly increased in all measured regions. Choline/creatine was also significantly elevated in the left hippocampus-amygdala and cerebellar regions of children with autism spectrum disorder. Comparisons within the autism spectrum disorder group when clinically subdivided by history of speech delay revealed significant metabolic ratio differences. Magnetic resonance spectroscopy can provide important information regarding abnormal brain metabolism and clinical classification in autism spectrum disorders.

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