Pubmed du 10/07/10

Pubmed du jour

2010-07-10 12:03:50

1. de Bildt A, Oosterling IJ, van Lang ND, Sytema S, Minderaa RB, van Engeland H, Roos S, Buitelaar JK, van der Gaag RJ, de Jonge MV. {{Standardized ADOS Scores: Measuring Severity of Autism Spectrum Disorders in a Dutch Sample}}. {J Autism Dev Disord} (Jul 9)

The validity of the calibrated severity scores on the ADOS as reported by Gotham et al. (J Autism Dev Disord 39: 693-705, 2009), was investigated in an independent sample of 1248 Dutch children with 1455 ADOS administrations (modules 1, 2 and 3). The greater comparability between ADOS administrations at different times, ages and in different modules, as reached by Gotham et al. with the calibrated severity measures, seems to be corroborated by the current study for module 1 and to a lesser extent for module 3. For module 2, the calibrated severity scores need to be further investigated within a sample that resembles Gotham’s sample in age and level of verbal functioning.

2. Freitag CM. {{[Empirically based early intervention programs for children with autistic disorders – a selective literature review.]}}. {Z Kinder Jugendpsychiatr Psychother} (Jul);38(4):247-256.

Autistic Disorders (AD) are characterized by impairments in social interaction and communication, as well as by stereotyped behaviors and interests. Early intervention programs in AD aim to improve several aspects of the child’s abilities: joint attention, play abilities, language development, and especially social interaction and communication. In this review article based on a selective literature search, the relatively best empirically based early intervention programs will be discussed with a focus on the proven efficacy of these interventions.

3. Noterdaeme MA, Hutzelmeyer-Nickels A. {{[Comorbidity in autism spectrum disorders – II. Genetic syndromes and neurological problems.]}}. {Z Kinder Jugendpsychiatr Psychother} (Jul);38(4):267-272.

Objective: Children with a pervasive developmental disorder show in addition to core symptoms a variety of genetic syndromes as well as neurological problems, which are relevant for the treatment and the course of the disorder. The objective of our study is to analyse the nature and the frequency of these co-morbid somatic disorders in relation to the level of intellectual functioning of the patients. Method: The sample consists of 601 patients with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum between 1997 and 2007. In addition to genetic syndromes, we also recorded a variety of neurological disorders. Results: 373 of the patients (62%) had at least one additional diagnosis and 121 (20%) had at least two additional diagnoses on Axis IV of the multi-axial classification scheme. Genetic syndromes were found in 6% of the patients (N = 37). Movement disorders (N = 214; 35.6%) and epilepsy (N = 98; 16.3%) were the most frequent neurological disorders. Children with mental retardation showed significantly more somatic diagnoses than children without mental retardation. Conclusions: Children with pervasive developmental disorders show a wide variety of co-morbid somatic problems, which are relevant for the treatment and the course of the disorder. Children with autism and mental retardation show more co-morbid conditions and are more impaired in their psychosocial adaptation than children with autism without mental retardation.

4. Noterdaeme MA, Wriedt E. {{[Comorbidity in autism spectrum disorders – I. Mental retardation and psychiatric comorbidity.]}}. {Z Kinder Jugendpsychiatr Psychother} (Jul);38(4):257-266.

Objective: Recent epidemiological surveys show a higher prevalence of autism spectrum disorders than was to be expected based on the first studies in this field. The objective of our study is to analyse the frequency of mental retardation and co-morbid psychiatric disorders and symptoms in a large clinical sample of patients with pervasive developmental disorders. Method: The sample consists of all patients (N = 601) with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum. For all patients the level of intellectual functioning was measured. In addition to psychiatric diagnoses, we also recorded intervention-relevant symptoms such as eating and sleeping problems, and auto-aggressive behavior on Axis I, as well as psychosocial impairments and level of psychosocial functioning on Axes V and VI. Results: 26% of the patients functioned on a normal intellectual level (N = 58). 54% of the patients (N = 325) had at least one additional psychiatric diagnosis, and 19% (N = 110) had two additional diagnoses. The most frequent diagnoses were externalizing disorders (N = 221). Internalizing disorders (N = 96), as well as other disorders (N = 114) were about equally frequent. Auto-aggressive behavior occurred more often among children with severe mental retardation than in children of normal intelligence. There was a significant association between the presence of (auto-)aggressive behavior as well as externalizing diagnoses and the level of psychosocial functioning. Conclusions: Children with pervasive developmental disorders show a wide variety of co-morbid problems, which are relevant for the treatment and the course of the disorder. The presence of externalizing behaviors is an additional burden on the development of these children.

5. Thanseem I, Nakamura K, Miyachi T, Toyota T, Yamada S, Tsujii M, Tsuchiya KJ, Anitha A, Iwayama Y, Yamada K, Hattori E, Matsuzaki H, Matsumoto K, Iwata Y, Suzuki K, Suda S, Kawai M, Sugihara GI, Takebayashi K, Takei N, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N. {{Further Evidence for the Role of MET in autism susceptibility}}. {Neurosci Res} (Jul 5)

MET receptor tyrosine kinase (MET)-mediated signaling has been implicated in multiple aspects of neocortical and cerebellar neuronal growth and maturation. A promoter functional SNP (rs1858830) that disrupts the transcription of MET has been reported to be strongly associated with autism spectrum disorders (ASD) in the Caucasian population. Here, we performed a trio association study of MET with ASD in Japanese subjects (n=126 trios). Based on the HapMap data on the Japanese population, 15 SNPs were chosen for the association study. One SNP located in intron 1, rs38841, showed a nominal association with autism (p=0.044; OR=1.61) when analyzed using the transmission disequilibrium test. To the best of our knowledge, this is the first replication study of the association of MET with autism, in any non-Caucasian population. Association of rs38841 with autism was further confirmed in 252 Caucasian trios from AGRE (p= 0.0006). An interesting observation is that all three SNPs of MET (rs1858830, rs38845 and rs38841) shown to be associated with autism in three independent studies including the present one, are located towards the 5’end of the gene at a span of 9.4kb. Our results provide further evidence for a possible role of MET in the pathogenesis of ASD.