Pubmed du 25/05/11

Pubmed du jour

2011-05-25 12:03:50

1. {{Mobile Social Network Services for Families with Children with Developmental Disabilities}}. {IEEE Trans Inf Technol Biomed};2011 (May 19)

As internet technologies evolve, their applications have changed various aspects of human life. Here we attempt to examine their potential impact on services for families with deve-lopmentally delayed children. Our research is thus designed to utilize wireless mobile communication technologies, location ser-vices and search technology in an effort to match families of spe-cific needs with potential care providers. Based on the investiga-tion conducted by our counselors, this paper describes a platform for smooth communication between professional communities and families with children with developmental disabilities. This research also looks into the impact of management of mobile social network services and training on the operation of these services. Interaction opportunities, care and support to families with children with developmental disabilities are introduced.

2. Arora M, Praharaj SK, Sarkhel S, Sinha VK. {{Asperger disorder in adults}}. {South Med J};2011 (Apr);104(4):264-268.

Asperger disorder was first described in 1944 by the Austrian pediatrician, Hans Asperger. It was introduced as a separate diagnostic category from autistic disorder in DSM-IV and ICD-10. The pattern of comorbidity in Asperger disorder is different from autistic disorder, with a higher level of psychosis, violent behavior, anxiety, and mood disorders. We present three cases of Asperger disorder diagnosed for the first time in adulthood, with psychosis being the predominant reason for the referral. In each case, the psychosis improved with antipsychotic treatment, although core autistic symptoms remained the same.

3. Bota RG, Preda A. {{The self and asperger syndrome}}. {South Med J};2011 (Apr);104(4):250-251.

4. Boyle CA, Boulet S, Schieve LA, Cohen RA, Blumberg SJ, Yeargin-Allsopp M, Visser S, Kogan MD. {{Trends in the Prevalence of Developmental Disabilities in US Children, 1997-2008}}. {Pediatrics};2011 (May 23)

Objective: To fill gaps in crucial data needed for health and educational planning, we determined the prevalence of developmental disabilities in US children and in selected populations for a recent 12-year period. Participants and Methods: We used data on children aged 3 to 17 years from the 1997-2008 National Health Interview Surveys, which are ongoing nationally representative samples of US households. Parent-reported diagnoses of the following were included: attention deficit hyperactivity disorder; intellectual disability; cerebral palsy; autism; seizures; stuttering or stammering; moderate to profound hearing loss; blindness; learning disorders; and/or other developmental delays. Results: Boys had a higher prevalence overall and for a number of select disabilities compared with girls. Hispanic children had the lowest prevalence for a number of disabilities compared with non-Hispanic white and black children. Low income and public health insurance were associated with a higher prevalence of many disabilities. Prevalence of any developmental disability increased from 12.84% to 15.04% over 12 years. Autism, attention deficit hyperactivity disorder, and other developmental delays increased, whereas hearing loss showed a significant decline. These trends were found in all of the sociodemographic subgroups, except for autism in non-Hispanic black children. Conclusions: Developmental disabilities are common and were reported in approximately 1 in 6 children in the United States in 2006-2008. The number of children with select developmental disabilities (autism, attention deficit hyperactivity disorder, and other developmental delays) has increased, requiring more health and education services. Additional study of the influence of risk-factor shifts, changes in acceptance, and benefits of early services is needed.

5. Durand CM, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, Sans N. {{SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism}}. {Mol Psychiatry};2011 (May 24)

Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia. At the synapse, Shank3/ProSAP2 is a scaffolding protein that connects glutamate receptors to the actin cytoskeleton via a chain of intermediary elements. Although genetic studies have repeatedly confirmed the association of SHANK3 mutations with susceptibility to psychiatric disorders, very little is known about the neuronal consequences of these mutations. Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. We show that Shank3 is located at the tip of actin filaments and enhances its polymerization. Shank3 also participates in growth cone motility in developing neurons. The truncating mutation (STOP) strongly affects the development and morphology of dendritic spines, reduces synaptic transmission in mature neurons and also inhibits the effect of Shank3 on growth cone motility. The de novo mutation in the ankyrin domain (Q321R) modifies the roles of Shank3 in spine induction and morphology, and actin accumulation in spines and affects growth cone motility. Finally, the two inherited mutations (R12C and R300C) have intermediate effects on spine density and synaptic transmission. Therefore, although inherited by healthy parents, the functional effects of these mutations strongly suggest that they could represent risk factors for ASD. Altogether, these data provide new insights into the synaptic alterations caused by SHANK3 mutations in humans and provide a robust cellular readout for the development of knowledge-based therapies.Molecular Psychiatry advance online publication, 24 May 2011; doi:10.1038/mp.2011.57.

6. Farran EK, Brosnan MJ. {{Perceptual grouping abilities in individuals with autism spectrum disorder; exploring patterns of ability in relation to grouping type and levels of development}}. {Autism Res};2011 (May 23)

This study further investigates findings of impairment in Gestalt, but not global processing in Autism Spectrum Disorder (ASD) [Brosnan, Scott, Fox, & Pye, 2004]. Nineteen males with ASD and nineteen typically developing (TD) males matched by nonverbal ability, took part in five Gestalt perceptual grouping tasks. Results showed that performance differed according to grouping type. The ASD group showed typical performance for grouping by proximity and by alignment, impairment on low difficulty trials for orientation and luminance similarity, and general impairment for grouping by shape similarity. Group differences were also observed developmentally; for the ASD group, with the exception of grouping by shape similarity, perceptual grouping performance was poorer at lower than higher levels of nonverbal ability. In contrast, no developmental progression was observed in the TD controls. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.